MONDO:0000044	hereditary hypophosphatemic rickets
MONDO:0000050	isolated congenital growth hormone deficiency
MONDO:0000107	auriculocondylar syndrome
MONDO:0000110	bifid nose
MONDO:0000133	immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000141	mosaic variegated aneuploidy syndrome
MONDO:0000171	muscular dystrophy-dystroglycanopathy, type A
MONDO:0000179	Neu-Laxova syndrome
MONDO:0000200	Zimmermann-Laband syndrome
MONDO:0000208	microcephaly, short stature, and impaired glucose metabolism 1
MONDO:0000211	striatal degeneration, autosomal dominant
MONDO:0000251	diarrheal disease secondary to altered bowel motility
MONDO:0000355	Ullrich congenital muscular dystrophy
MONDO:0000447	autosomal dominant polycystic liver disease
MONDO:0000453	short QT syndrome
MONDO:0000455	Cone/cone-rod dystrophy
MONDO:0000463	Ochoa syndrome
MONDO:0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000587	autoimmune disease of ear, nose and throat
MONDO:0000736	dyschromatosis universalis hereditaria
MONDO:0000774	autoimmune neuropathy
MONDO:0000845	fibrous dysplasia
MONDO:0000863	myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000902	agenesis of the corpus callosum with peripheral neuropathy
MONDO:0000903	myoclonus-dystonia syndrome
MONDO:0000908	arrhythmogenic right ventricular dysplasia 13
MONDO:0000909	Bartter disease type 4B
MONDO:0000910	retinitis pigmentosa 6
MONDO:0000912	autosomal recessive nonsyndromic deafness 5
MONDO:0000913	hereditary spherocytosis type 2
MONDO:0000914	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
MONDO:0001046	imperforate anus
MONDO:0001056	gastric cancer
MONDO:0001105	renal hypertension
MONDO:0001187	urinary bladder cancer
MONDO:0001250	keratomalacia
MONDO:0001347	facioscapulohumeral muscular dystrophy
MONDO:0001410	postmenopausal atrophic vaginitis
MONDO:0001444	Chagas disease
MONDO:0001586	mucopolysaccharidosis type 1
MONDO:0001595	choreatic disease
MONDO:0001881	toxic shock syndrome
MONDO:0001945	postencephalitic Parkinson disease
MONDO:0001956	capillary leak syndrome
MONDO:0002142	undifferentiated pleomorphic sarcoma
MONDO:0002303	central retinal vein occlusion
MONDO:0002413	glycogen storage disease I
MONDO:0002422	adamantinoma
MONDO:0002437	dehydration polycythemia
MONDO:0002441	Jervell and Lange-Nielsen syndrome
MONDO:0002457	Treacher-Collins syndrome
MONDO:0002474	primary hyperoxaluria
MONDO:0002546	schwannoma
MONDO:0002629	bone osteosarcoma
MONDO:0002697	ovarian gonadoblastoma
MONDO:0002728	rhabdoid tumor
MONDO:0002735	anal canal adenocarcinoma
MONDO:0002882	colon neuroendocrine neoplasm
MONDO:0002974	cervical cancer
MONDO:0003111	gastric neuroendocrine neoplasm
MONDO:0003345	hilar cholangiocarcinoma
MONDO:0003582	hereditary breast ovarian cancer syndrome
MONDO:0003646	rectum neuroendocrine neoplasm
MONDO:0004114	urinary bladder small cell neuroendocrine carcinoma
MONDO:0004132	anal canal squamous cell carcinoma
MONDO:0004241	Osgood-Schlatter disease
MONDO:0004573	ariboflavinosis
MONDO:0004691	Polycystic kidney disease, autosomal dominant
MONDO:0004933	hypoplastic left heart syndrome
MONDO:0004948	B-cell chronic lymphocytic leukemia
MONDO:0004952	Hodgkins lymphoma
MONDO:0004976	amyotrophic lateral sclerosis
MONDO:0005028	esophageal adenocarcinoma
MONDO:0005029	essential thrombocythemia
MONDO:0005033	ganglioneuroma
MONDO:0005044	hypertensive disorder
MONDO:0005048	Pancreatic insulin-producing neuroendocrine tumor
MONDO:0005055	Kaposi's sarcoma
MONDO:0005060	liposarcoma
MONDO:0005072	neuroblastoma
MONDO:0005081	preeclampsia
MONDO:0005090	schizophrenia
MONDO:0005091	severe acute respiratory syndrome
MONDO:0005100	systemic sclerosis
MONDO:0005103	well-differentiated liposarcoma
MONDO:0005116	Whipple disease
MONDO:0005124	leprosy
MONDO:0005136	malaria
MONDO:0005147	type 1 diabetes mellitus
MONDO:0005148	type 2 diabetes mellitus
MONDO:0005195	septic peritonitis
MONDO:0005197	thymus neoplasm
MONDO:0005272	refractory anemia
MONDO:0005298	osteoporosis
MONDO:0005313	necrotizing enterocolitis
MONDO:0005361	eosinophilic esophagitis
MONDO:0005388	primary biliary cholangitis
MONDO:0005459	human African trypanosomiasis
MONDO:0005486	tooth agenesis
MONDO:0005498	botulism
MONDO:0005502	dengue disease
MONDO:0005508	hereditary multiple osteochondromas
MONDO:0005512	malignant peritoneal mesothelioma
MONDO:0005514	nanophthalmia
MONDO:0005526	tetanus
MONDO:0005563	nut midline carcinoma
MONDO:0005575	colorectal cancer
MONDO:0005580	esophageal squamous cell carcinoma
MONDO:0005619	typhoid fever
MONDO:0005629	Acanthamoeba keratitis
MONDO:0005657	aspergillosis
MONDO:0005661	babesiosis
MONDO:0005683	brucellosis
MONDO:0005706	coccidioidomycosis
MONDO:0005711	congenital diaphragmatic hernia
MONDO:0005715	congenital toxoplasmosis
MONDO:0005724	cryptococcosis
MONDO:0005737	Ebola hemorrhagic fever
MONDO:0005761	filarial elephantiasis
MONDO:0005820	Lassa fever
MONDO:0005823	legionellosis
MONDO:0005825	leptospirosis
MONDO:0005828	listeriosis
MONDO:0005835	Lynch syndrome
MONDO:0005846	microsporidiosis
MONDO:0005854	mixed connective tissue disease
MONDO:0005919	placental insufficiency
MONDO:0005933	pulmonary blastoma
MONDO:0005979	thoracic outlet syndrome
MONDO:0006037	hydrolethalus syndrome
MONDO:0006065	lactose intolerance adult type
MONDO:0006248	hydatidiform mole
MONDO:0006277	lung lymphangioleiomyomatosis
MONDO:0006292	malignant mesothelioma
MONDO:0006363	peritoneal multicystic mesothelioma
MONDO:0006372	pituicytoma
MONDO:0006451	thymic carcinoma
MONDO:0006456	Thymoma
MONDO:0006468	Thyroid gland undifferentiated (anaplastic) carcinoma
MONDO:0006486	uveal melanoma
MONDO:0006558	pemphigoid gestationis
MONDO:0006583	necrobiosis lipoidica
MONDO:0006588	nonepidermolytic palmoplantar keratoderma
MONDO:0006602	porokeratosis
MONDO:0006614	subcorneal pustular dermatosis
MONDO:0006639	adrenal cortex carcinoma
MONDO:0006687	burning mouth syndrome
MONDO:0006761	fibromuscular dysplasia
MONDO:0006797	hypertensive retinopathy
MONDO:0006806	intermediate uveitis
MONDO:0006851	meconium aspiration syndrome
MONDO:0006906	pigmented villonodular synovitis
MONDO:0006908	pituitary apoplexy
MONDO:0006928	proliferative vitreoretinopathy
MONDO:0006941	rat-bite fever
MONDO:0006952	Retinopathy of prematurity
MONDO:0006976	somatostatinoma
MONDO:0007029	branchio-oto-renal syndrome
MONDO:0007030	autosomal dominant Aarskog syndrome
MONDO:0007032	prune belly syndrome
MONDO:0007033	abducens nerve palsy
MONDO:0007034	Adams-Oliver syndrome
MONDO:0007036	Achard syndrome
MONDO:0007037	achondroplasia
MONDO:0007038	Achoo syndrome
MONDO:0007039	neurofibromatosis type 2
MONDO:0007040	Sakati-Nyhan syndrome
MONDO:0007041	apert syndrome
MONDO:0007042	Saethre-Chotzen syndrome
MONDO:0007043	Pfeiffer syndrome
MONDO:0007044	acrodysostosis 1 with or without hormone resistance
MONDO:0007045	acrofacial dysostosis, Catania type
MONDO:0007046	hereditary papulotranslucent acrokeratoderma
MONDO:0007047	punctate palmoplantar keratoderma type III
MONDO:0007048	acrokeratosis verruciformis
MONDO:0007049	acroleukopathy, symmetric
MONDO:0007050	acromegaloid changes, cutis verticis gyrata, and corneal leukoma
MONDO:0007051	acromegaloid facial appearance syndrome
MONDO:0007052	growth hormone secreting pituitary adenoma 1
MONDO:0007053	restless legs syndrome 1
MONDO:0007054	acromial dimples
MONDO:0007055	acromicric dysplasia
MONDO:0007056	acroosteolysis
MONDO:0007057	acroosteolysis dominant type
MONDO:0007058	acropectorovertebral dysplasia
MONDO:0007059	acrorenal syndrome
MONDO:0007060	spermatogenic failure 6
MONDO:0007062	congenital absence/hypoplasia of fingers excluding thumb, unilateral
MONDO:0007064	adenosine deaminase deficiency
MONDO:0007066	adenosine triphosphatase deficiency, anemia due to
MONDO:0007067	pyruvate kinase hyperactivity
MONDO:0007068	adenylosuccinate lyase deficiency
MONDO:0007070	adiposis dolorosa
MONDO:0007071	adrenocortical hypofunction, chronic primary congenital
MONDO:0007072	ADULT syndrome
MONDO:0007073	hypoglossia-hypodactyly syndrome
MONDO:0007074	ainhum
MONDO:0007075	alacrima, congenital, autosomal dominant
MONDO:0007077	Tietz syndrome
MONDO:0007078	pseudohypoparathyroidism type 1A
MONDO:0007079	alcohol dependence
MONDO:0007080	glucocorticoid-remediable aldosteronism
MONDO:0007082	alopecia areata 1
MONDO:0007083	autosomal dominant palmoplantar keratoderma and congenital alopecia
MONDO:0007084	familial focal alopecia
MONDO:0007085	alopecia-epilepsy-pyorrhea-intellectual disability syndrome
MONDO:0007086	autosomal dominant Alport syndrome
MONDO:0007087	alternating hemiplegia of childhood 1
MONDO:0007088	Alzheimer disease type 1
MONDO:0007089	Alzheimer disease 2
MONDO:0007090	amastia, bilateral, with ureteral triplication and dysmorphism
MONDO:0007091	amelia and terminal transverse hemimelia
MONDO:0007092	amelogenesis imperfecta type 1B
MONDO:0007093	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
MONDO:0007094	amelogenesis imperfecta type 1A
MONDO:0007095	ameloonychohypohidrotic syndrome
MONDO:0007096	amenorrhea-galactorrhea syndrome
MONDO:0007097	Finnish type amyloidosis
MONDO:0007098	ACys amyloidosis
MONDO:0007099	familial visceral amyloidosis
MONDO:0007100	familial amyloid neuropathy
MONDO:0007102	amyotrophic dystonic paraplegia
MONDO:0007103	amyotrophic lateral sclerosis type 1
MONDO:0007104	amyotrophic lateral sclerosis-parkinsonism-dementia complex
MONDO:0007105	frontotemporal dementia and/or amyotrophic lateral sclerosis 1
MONDO:0007106	anal sphincter dysplasia
MONDO:0007107	anal sphincter myopathy, internal
MONDO:0007108	anal canal carcinoma
MONDO:0007109	congenital dyserythropoietic anemia type 3
MONDO:0007110	Diamond-Blackfan anemia 1
MONDO:0007111	aneurysm, intracranial berry type 1
MONDO:0007112	interventricular septum aneurysm
MONDO:0007113	Angelman syndrome
MONDO:0007114	angel-shaped phalango-epiphyseal dysplasia
MONDO:0007115	angioma serpiginosum, autosomal dominant
MONDO:0007116	hereditary neurocutaneous angioma
MONDO:0007118	isolated anhidrosis with normal sweat glands
MONDO:0007119	isolated aniridia
MONDO:0007120	aniridia-absent patella syndrome
MONDO:0007121	aniridia, microcornea, and spontaneously Reabsorbed cataract
MONDO:0007122	anisocoria
MONDO:0007123	ankyloblepharon filiforme adnatum-cleft palate syndrome
MONDO:0007124	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MONDO:0007125	ankyloglossia
MONDO:0007127	diffuse idiopathic skeletal hyperostosis
MONDO:0007128	annular erythema
MONDO:0007129	tooth agenesis, selective, 1
MONDO:0007130	congenital total pulmonary venous return anomaly
MONDO:0007131	anonychia with flexural pigmentation
MONDO:0007132	anonychia-ectrodactyly
MONDO:0007133	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
MONDO:0007134	Cooks syndrome
MONDO:0007135	nonsyndromic congenital nail disorder 6
MONDO:0007136	genetic anorectal anomalies
MONDO:0007137	isolated congenital anosmia
MONDO:0007138	anterior segment dysgenesis 1
MONDO:0007140	antiphospholipid syndrome
MONDO:0007142	Townes-Brocks syndrome
MONDO:0007143	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
MONDO:0007144	aortic arch interruption, facial palsy, and retinal coloboma
MONDO:0007145	aplasia cutis congenita
MONDO:0007147	obstructive sleep apnea syndrome
MONDO:0007151	arms, malformation of
MONDO:0007152	arrhythmogenic right ventricular dysplasia 1
MONDO:0007153	arteries, anomalies of
MONDO:0007154	arteriovenous malformations of the brain
MONDO:0007155	arteritis, familial granulomatous, with juvenile polyarthritis
MONDO:0007156	arthritis, sacroiliac
MONDO:0007157	arthrogryposis, distal, type 1A
MONDO:0007158	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
MONDO:0007159	arthrogryposis-like hand anomaly-sensorineural deafness syndrome
MONDO:0007160	Stickler syndrome type 1
MONDO:0007161	spermatogenic failure 2
MONDO:0007162	asymmetric short stature syndrome
MONDO:0007163	episodic ataxia type 2
MONDO:0007164	spastic ataxia 1
MONDO:0007165	spastic ataxia 7
MONDO:0007166	ataxia with fasciculations
MONDO:0007167	atelosteogenesis type I
MONDO:0007168	atelosteogenesis type III
MONDO:0007170	atresia of external auditory canal and conductive deafness
MONDO:0007171	atrial standstill 1
MONDO:0007172	atrial septal defect 1
MONDO:0007173	Atrial septal defect-atrioventricular conduction defects syndrome
MONDO:0007174	Lown-Ganong-Levine syndrome
MONDO:0007176	helicoid peripapillary chorioretinal degeneration
MONDO:0007177	auriculoosteodysplasia
MONDO:0007178	aurocephalosyndactyly
MONDO:0007179	autoimmune disease
MONDO:0007180	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
MONDO:0007181	axial osteomalacia
MONDO:0007182	Machado-Joseph disease
MONDO:0007183	azotemia, familial
MONDO:0007184	alopecia, androgenetic, 1
MONDO:0007185	Banki syndrome
MONDO:0007186	gastroesophageal reflux disease
MONDO:0007187	nevoid basal cell carcinoma syndrome
MONDO:0007188	primary basilar invagination
MONDO:0007191	Behcet disease
MONDO:0007193	primary biliary cholangitis 1
MONDO:0007194	familial bicuspid aortic valve
MONDO:0007195	bifid nose, autosomal dominant
MONDO:0007197	bladder diverticulum
MONDO:0007198	Ascher syndrome
MONDO:0007199	blepharochalasis, superior
MONDO:0007200	blepharonasofacial malformation syndrome
MONDO:0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome
MONDO:0007202	blepharoptosis-myopia-ectopia lentis syndrome
MONDO:0007203	blue rubber bleb nevus
MONDO:0007204	Cole-Carpenter syndrome 1
MONDO:0007205	diaphyseal medullary stenosis-bone malignancy syndrome
MONDO:0007206	bone pain, periodic
MONDO:0007207	Böök syndrome
MONDO:0007208	Boomerang dysplasia
MONDO:0007209	Weismann-Netter syndrome
MONDO:0007210	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
MONDO:0007211	brachydactyly-arterial hypertension syndrome
MONDO:0007212	brachydactyly-long thumb syndrome
MONDO:0007213	Ballard syndrome
MONDO:0007214	brachydactyly-preaxial hallux varus syndrome
MONDO:0007215	brachydactyly type A1
MONDO:0007216	brachydactyly type A2
MONDO:0007217	brachydactyly type A3
MONDO:0007218	brachydactyly type A4
MONDO:0007219	brachydactyly type A6
MONDO:0007220	brachydactyly type B1
MONDO:0007221	brachydactyly type C
MONDO:0007222	brachydactyly type D
MONDO:0007223	brachydactyly type E1
MONDO:0007224	brachydactyly, type E, with atrial septal defect, type 2
MONDO:0007225	fibular aplasia-ectrodactyly syndrome
MONDO:0007226	brachydactyly-nystagmus-cerebellar ataxia syndrome
MONDO:0007227	Sillence syndrome
MONDO:0007228	brachymesomelia-renal syndrome
MONDO:0007229	Brachymetatarsus 4
MONDO:0007230	Brachymorphism-onychodysplasia-dysphalangism syndrome
MONDO:0007231	brachytelephalangy-dysmorphism-Kallmann syndrome
MONDO:0007232	autosomal dominant brachyolmia
MONDO:0007233	second branchial cleft anomaly
MONDO:0007234	branchial myoclonus with spastic paraparesis and cerebellar ataxia
MONDO:0007235	branchiooculofacial syndrome
MONDO:0007236	branchiootorenal syndrome 1
MONDO:0007237	familial juvenile hypertrophy of the breast
MONDO:0007238	amastia
MONDO:0007239	epidermolytic hyperkeratosis
MONDO:0007240	progressive familial heart block, type 1A
MONDO:0007241	bundle branch block, familial isolated complete right
MONDO:0007243	Burkitt lymphoma
MONDO:0007244	Caffey disease
MONDO:0007245	neurofibromatosis type 6
MONDO:0007246	calcific aortic disease with immunologic abnormalities, familial
MONDO:0007247	basal ganglia calcification, idiopathic, childhood-onset
MONDO:0007248	hereditary painful callosities
MONDO:0007249	camptobrachydactyly
MONDO:0007250	camptodactyly of fingers
MONDO:0007251	campomelic dysplasia
MONDO:0007252	Gordon syndrome
MONDO:0007253	cancer, familial, with in vitro Radioresistance
MONDO:0007256	hepatocellular carcinoma
MONDO:0007257	candidiasis, familial, 1
MONDO:0007258	canine teeth, absence of upper permanent
MONDO:0007259	craniofaciofrontodigital syndrome
MONDO:0007260	Car factor deficiency
MONDO:0007261	Carabelli anomaly of maxillary molar teeth
MONDO:0007264	sudden cardiac arrest
MONDO:0007265	cardiofaciocutaneous syndrome 1
MONDO:0007266	hypertrophic cardiomyopathy 2
MONDO:0007267	hypertrophic cardiomyopathy 3
MONDO:0007268	hypertrophic cardiomyopathy 4
MONDO:0007269	dilated cardiomyopathy 1A
MONDO:0007270	cardiomyopathy, familial restrictive, 1
MONDO:0007271	familial cutaneous collagenoma
MONDO:0007272	hereditary hypercarotenemia and vitamin A deficiency
MONDO:0007273	paragangliomas 4
MONDO:0007274	carpal displacement
MONDO:0007276	cat-eye syndrome
MONDO:0007277	cataract-aberrant oral frenula-growth delay syndrome
MONDO:0007278	cataract 32 multiple types
MONDO:0007279	cataract 7
MONDO:0007280	cataract 8 multiple types
MONDO:0007281	cataract 4 multiple types
MONDO:0007282	cataract 29
MONDO:0007283	cataract 42
MONDO:0007284	cataract 20 multiple types
MONDO:0007285	cataract 1 multiple types
MONDO:0007286	cataract 30
MONDO:0007287	cataract 41
MONDO:0007288	cataract 6 multiple types
MONDO:0007289	cataract 13 with adult I phenotype
MONDO:0007290	cataract 5 multiple types
MONDO:0007292	celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0007293	leukocyte adhesion deficiency 1
MONDO:0007294	central core myopathy
MONDO:0007295	rolandic epilepsy
MONDO:0007296	spinocerebellar ataxia type 31
MONDO:0007297	ADan amyloidosis
MONDO:0007298	spinocerebellar ataxia type 29
MONDO:0007299	Sotos syndrome 1
MONDO:0007300	cerebral sarcoma
MONDO:0007301	cerebrocostomandibular syndrome
MONDO:0007302	cervical hypertrichosis with underlying kyphoscoliosis
MONDO:0007303	cervical rib disease
MONDO:0007304	cervical vertebral Bridge
MONDO:0007305	cervical vertebral dysplasia
MONDO:0007306	Klippel-Feil syndrome 1, autosomal dominant
MONDO:0007307	Charcot-Marie-Tooth disease type 1B
MONDO:0007308	Charcot-Marie-Tooth disease type 2A1
MONDO:0007309	Charcot-Marie-Tooth disease type 1A
MONDO:0007310	Charcot-Marie-Tooth disease, Guadalajara neuronal type
MONDO:0007311	Charcot-Marie-Tooth disease type 1E
MONDO:0007312	Charcot-Marie-Tooth disease with ptosis and parkinsonism
MONDO:0007313	cheilitis glandularis
MONDO:0007314	chemodectoma, intraabdominal, with cutaneous angiolipomas
MONDO:0007315	cherubism
MONDO:0007316	Chiari malformation type I
MONDO:0007318	Alagille syndrome
MONDO:0007319	chondrocalcinosis 2
MONDO:0007320	chondrocalcinosis due to apatite crystal deposition
MONDO:0007321	autosomal dominant chondrodysplasia punctata
MONDO:0007322	chondrodysplasia punctata, tibial-metacarpal type
MONDO:0007325	choreoathetosis, familial inverted
MONDO:0007327	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
MONDO:0007328	choroidal osteoma, bilateral
MONDO:0007329	cirrhosis, familial
MONDO:0007330	congenital pseudoarthrosis of clavicle
MONDO:0007332	split-hand/foot malformation with long bone deficiency 1
MONDO:0007333	van der Woude syndrome 1
MONDO:0007334	autosomal dominant popliteal pterygium syndrome
MONDO:0007335	orofacial cleft 1
MONDO:0007336	isolated cleft palate
MONDO:0007337	cleft palate-lateral synechia syndrome
MONDO:0007338	cleft soft palate
MONDO:0007339	blepharocheilodontic syndrome
MONDO:0007340	cleidocranial dysplasia
MONDO:0007341	cleidorhizomelic syndrome
MONDO:0007342	clubfoot
MONDO:0007343	isolated congenital digital clubbing
MONDO:0007344	cluster headache, familial
MONDO:0007345	aorta coarctation
MONDO:0007346	cochleosaccular degeneration-cataract syndrome
MONDO:0007349	familial cold autoinflammatory syndrome 1
MONDO:0007350	coloboma, ocular, autosomal dominant
MONDO:0007351	coloboma of macula
MONDO:0007352	renal coloboma syndrome
MONDO:0007353	coloboma of macula-brachydactyly type B syndrome
MONDO:0007354	coloboma of optic nerve
MONDO:0007355	uveal coloboma-cleft lip and palate-intellectual disability
MONDO:0007356	Lynch syndrome 1
MONDO:0007357	colonic varices without portal hypertension
MONDO:0007358	comedones, familial Dyskeratotic
MONDO:0007359	commissural lip pits
MONDO:0007360	branchiootic syndrome 2
MONDO:0007361	C1 inhibitor deficiency
MONDO:0007362	cone-rod dystrophy 2
MONDO:0007363	congenital contractural arachnodactyly
MONDO:0007364	arthrogryposis, distal, type 2E
MONDO:0007365	seizures, benign familial neonatal, 1
MONDO:0007366	seizures, benign familial neonatal, 2
MONDO:0007367	febrile seizures, familial, 1
MONDO:0007368	familial benign copper deficiency
MONDO:0007369	hereditary coproporphyria
MONDO:0007370	coracoclavicular joint, anomalous
MONDO:0007371	cornea guttata with anterior polar cataracts
MONDO:0007372	cornea plana 1, autosomal dominant
MONDO:0007373	corneal degeneration, ribbonlike, with deafness
MONDO:0007374	Schnyder corneal dystrophy
MONDO:0007375	epithelial basement membrane dystrophy
MONDO:0007376	fleck corneal dystrophy
MONDO:0007377	granular corneal dystrophy type I
MONDO:0007378	posterior polymorphous corneal dystrophy 1
MONDO:0007380	lattice corneal dystrophy type I
MONDO:0007381	epithelial recurrent erosion dystrophy
MONDO:0007382	Ramos-Arroyo syndrome
MONDO:0007383	Stern-Lubinsky-Durrie syndrome
MONDO:0007384	congenital trigeminal anesthesia
MONDO:0007385	idiopathic spontaneous coronary artery dissection
MONDO:0007387	Cornelia de Lange syndrome 1
MONDO:0007388	congenitally short costocoracoid ligament
MONDO:0007389	spondylocostal dysostosis 5
MONDO:0007390	coumarin resistance
MONDO:0007391	coxa vara
MONDO:0007392	coxoauricular syndrome
MONDO:0007393	cranioacrofacial syndrome
MONDO:0007395	craniofacial-deafness-hand syndrome
MONDO:0007396	dysostosis, Stanescu type
MONDO:0007397	craniometaphyseal dysplasia, autosomal dominant
MONDO:0007398	craniorhiny
MONDO:0007399	TWIST1-related craniosynostosis
MONDO:0007400	Jackson-Weiss syndrome
MONDO:0007401	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
MONDO:0007402	creatine phosphokinase, elevated serum
MONDO:0007403	inherited Creutzfeldt-Jakob disease
MONDO:0007404	Cri-du-chat syndrome
MONDO:0007405	Crouzon syndrome
MONDO:0007406	cryofibrinogenemia, familial primary
MONDO:0007407	Cryoglobulinemic vasculitis
MONDO:0007408	cryptotia, familial
MONDO:0007409	cryptomicrotia-brachydactyly-excess fingertip arch syndrome
MONDO:0007410	isolated cryptophthalmia
MONDO:0007411	cutis laxa, autosomal dominant 1
MONDO:0007412	Beare-Stevenson cutis gyrata syndrome
MONDO:0007414	Gorham-Stout disease
MONDO:0007415	mitochondrial complex III deficiency nuclear type 1
MONDO:0007416	Balkan nephropathy
MONDO:0007417	Darier disease
MONDO:0007418	Darwinian tubercle of pinna
MONDO:0007420	autosomal dominant deafness - onychodystrophy syndrome
MONDO:0007421	deafness-ear malformation-facial palsy syndrome
MONDO:0007422	keratoderma hereditarium mutilans
MONDO:0007423	deafness, mid-tone neural
MONDO:0007424	autosomal dominant nonsyndromic deafness 1
MONDO:0007425	deafness, sensorineural, with peripheral neuropathy and arterial disease
MONDO:0007426	deafness, unilateral
MONDO:0007427	deafness with anhidrotic ectodermal dysplasia
MONDO:0007428	deafness-craniofacial syndrome
MONDO:0007429	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
MONDO:0007430	dens evaginatus
MONDO:0007431	dens in dente and palatal invaginations
MONDO:0007433	dementia/parkinsonism with non-Alzheimer amyloid plaques
MONDO:0007434	primary failure of tooth eruption
MONDO:0007435	dentatorubral-pallidoluysian atrophy
MONDO:0007436	dentin dysplasia type I
MONDO:0007437	dentin dysplasia type II
MONDO:0007438	dentin dysplasia-sclerotic bones syndrome
MONDO:0007439	deoxyribose-5-phosphate aldolase deficiency
MONDO:0007440	major affective disorder 1
MONDO:0007441	dentinogenesis imperfecta type 2
MONDO:0007442	dentinogenesis imperfecta type 3
MONDO:0007443	congenital unilateral hypoplasia of depressor anguli oris
MONDO:0007444	dermal Ridges, patternless
MONDO:0007445	dermatopathia pigmentosa reticularis
MONDO:0007446	dermatosis papulosa nigra
MONDO:0007447	autosomal dominant vibratory urticaria
MONDO:0007448	familial dermatographia
MONDO:0007449	dermo-odonto dysplasia
MONDO:0007450	neurohypophyseal diabetes insipidus
MONDO:0007451	diabetes insipidus, nephrogenic, autosomal
MONDO:0007452	maturity-onset diabetes of the young type 1
MONDO:0007453	maturity-onset diabetes of the young type 2
MONDO:0007454	type 1 diabetes mellitus 2
MONDO:0007457	diastema, dental medial
MONDO:0007458	digitotalar dysmorphism; ulnar drift, hereditary
MONDO:0007459	dilution, pigmentary
MONDO:0007460	discrimination, Two-point, reduction 1N
MONDO:0007461	short stature-valvular heart disease-characteristic facies syndrome
MONDO:0007463	distal osteosclerosis
MONDO:0007465	distichiasis with congenital anomalies of the heart and peripheral vasculature
MONDO:0007469	double nail for fifth toe
MONDO:0007470	calvarial doughnut lesions-bone fragility syndrome
MONDO:0007471	Doyne honeycomb retinal dystrophy
MONDO:0007472	basal laminar drusen
MONDO:0007473	Duane retraction syndrome
MONDO:0007474	duodenal ulcer due to antral G-cell hyperfunction
MONDO:0007475	duodenal ulcer, hyperpepsinogenemic 1
MONDO:0007476	familial Dupuytren contracture
MONDO:0007477	3-M syndrome
MONDO:0007478	autosomal dominant Kenny-Caffey syndrome
MONDO:0007479	dwarfism, Levi type
MONDO:0007480	dwarfism with stiff joints and ocular abnormalities
MONDO:0007481	Leri-Weill dyschondrosteosis
MONDO:0007482	dyschondrosteosis-nephritis syndrome
MONDO:0007483	dyschromatosis symmetrica hereditaria
MONDO:0007485	dyskeratosis congenita, autosomal dominant 1
MONDO:0007486	hereditary benign intraepithelial dyskeratosis
MONDO:0007488	Lewy body dementia
MONDO:0007489	dysplasia epiphysealis hemimelica
MONDO:0007490	carpotarsal osteochondromatosis
MONDO:0007491	dystelephalangy
MONDO:0007492	early-onset generalized limb-onset dystonia
MONDO:0007493	torsion dystonia 4
MONDO:0007495	dystonia 5
MONDO:0007496	dystonia 12
MONDO:0007497	ear antitragus, tag at base of
MONDO:0007498	ear exostoses
MONDO:0007499	ear folding
MONDO:0007500	ear malformation
MONDO:0007501	preauricular fistulae, congenital
MONDO:0007502	ear pits, posterior helical
MONDO:0007503	ear without helix
MONDO:0007504	thickened earlobes-conductive deafness syndrome
MONDO:0007505	earring holes, natural
MONDO:0007507	absence of fingerprints-congenital milia syndrome
MONDO:0007508	Rapp-Hodgkin syndrome
MONDO:0007509	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
MONDO:0007510	Clouston syndrome
MONDO:0007511	ectodermal dysplasia, trichoodontoonychial type
MONDO:0007512	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
MONDO:0007513	ectodermal dysplasia with adrenal cyst
MONDO:0007514	ectopia lentis 1, isolated, autosomal dominant
MONDO:0007515	ectopia pupillae
MONDO:0007516	ectrodactyly and ectodermal dysplasia without cleft lip/palate
MONDO:0007517	ectrodactyly-cleft palate syndrome
MONDO:0007518	edema, familial idiopathic, prepubertal
MONDO:0007519	Edinburgh malformation syndrome
MONDO:0007520	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MONDO:0007522	Ehlers-Danlos syndrome, classic type
MONDO:0007523	Ehlers-Danlos syndrome, hypermobility type
MONDO:0007524	autosomal dominant Ehlers-Danlos syndrome, vascular type
MONDO:0007525	Ehlers-Danlos syndrome, arthrochalasis type
MONDO:0007526	Ehlers-Danlos syndrome progeroid type
MONDO:0007527	Ehlers-Danlos syndrome, periodontitis type
MONDO:0007528	Ehlers-Danlos syndrome, autosomal dominant, type unspecified
MONDO:0007529	elastosis perforans serpiginosa
MONDO:0007530	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
MONDO:0007531	electroencephalographic peculiarity: fronto-precentral beta wave groups
MONDO:0007533	elliptocytosis 2
MONDO:0007534	Beckwith-Wiedemann syndrome
MONDO:0007535	emphysema, hereditary pulmonary
MONDO:0007536	congenital lobar emphysema
MONDO:0007537	lateral meningocele syndrome
MONDO:0007538	amelogenesis imperfecta, type 3A
MONDO:0007539	encephalopathy, recurrent, of childhood
MONDO:0007540	multiple endocrine neoplasia type 1
MONDO:0007542	Camurati-Engelmann disease
MONDO:0007544	eosinophilia, familial
MONDO:0007545	Eosinophilopenia
MONDO:0007546	myeloproliferative disorder, chronic, with eosinophilia
MONDO:0007547	epidermoid cysts
MONDO:0007548	transient bullous dermolysis of the newborn
MONDO:0007549	generalized dominant dystrophic epidermolysis bullosa
MONDO:0007550	epidermolysis bullosa simplex Dowling-Meara type
MONDO:0007551	localized epidermolysis bullosa simplex
MONDO:0007552	pretibial dystrophic epidermolysis bullosa
MONDO:0007553	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase
MONDO:0007554	generalized epidermolysis bullosa simplex, non-Dowling-Meara type
MONDO:0007555	epidermolysis bullosa simplex Ogna type
MONDO:0007556	epidermolysis bullosa simplex with mottled pigmentation
MONDO:0007557	epidermolysis bullosa with congenital localized absence of skin and deformity of nails
MONDO:0007558	benign occipital epilepsy
MONDO:0007559	photoparoxysmal response 1
MONDO:0007560	reading seizures
MONDO:0007561	multiple epiphyseal dysplasia type 1
MONDO:0007562	multiple epiphyseal dysplasia, Beighton type
MONDO:0007564	pilomatrixoma
MONDO:0007565	familial cylindromatosis
MONDO:0007566	multiple self-healing squamous epithelioma
MONDO:0007568	aortic aneurysm, familial thoracic 4
MONDO:0007569	erythema nodosum, familial
MONDO:0007570	erythema palmare hereditarium
MONDO:0007571	primary erythermalgia
MONDO:0007572	primary familial polycythemia due to EPO receptor mutation
MONDO:0007573	acute erythroleukemia, familial
MONDO:0007574	spinocerebellar ataxia type 34
MONDO:0007576	esophageal cancer
MONDO:0007577	esophageal ring, lower
MONDO:0007581	exchondrosis of pinna, posterior
MONDO:0007583	exostoses of heel
MONDO:0007584	exostoses-anetodermia-brachydactyly type E syndrome
MONDO:0007585	exostoses, multiple, type 1
MONDO:0007586	exostoses, multiple, type 2
MONDO:0007587	external auditory canal atresia-vertical talus-hypertelorism syndrome
MONDO:0007588	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
MONDO:0007589	exudative vitreoretinopathy 1
MONDO:0007590	hemifacial hypertrophy
MONDO:0007592	familial recurrent peripheral facial palsy
MONDO:0007593	facial spasm
MONDO:0007594	factor 5 excess with spontaneous thrombosis
MONDO:0007595	factor VII and Factor VIII, combined deficiency of
MONDO:0007597	factor VIII and Factor IX, combined deficiency of
MONDO:0007598	factors VIII, IX and XI, combined deficiency of
MONDO:0007599	factor 9 and Factor XI, combined deficiency of
MONDO:0007600	primary Fanconi syndrome
MONDO:0007601	familial Mediterranean fever, autosomal dominant
MONDO:0007603	Felty syndrome
MONDO:0007604	femoral-facial syndrome
MONDO:0007605	fibrinolytic defect
MONDO:0007606	fibrodysplasia ossificans progressiva
MONDO:0007607	Birt-Hogg-Dube syndrome
MONDO:0007608	desmoid tumor
MONDO:0007609	fibromatosis, gingival, 1
MONDO:0007610	gingival fibromatosis-hypertrichosis syndrome
MONDO:0007612	gingival fibromatosis-progressive deafness syndrome
MONDO:0007615	laurin-Sandrow syndrome
MONDO:0007616	fibula, recurrent dislocation of head of
MONDO:0007617	Coffin-Siris syndrome 1
MONDO:0007618	Eng-Strom syndrome
MONDO:0007619	isolated congenital adermatoglyphia
MONDO:0007620	fish eye disease
MONDO:0007621	floating-Harbor syndrome
MONDO:0007622	flood factor deficiency
MONDO:0007623	flushing of ears and somnolence
MONDO:0007624	Flynn-Aird syndrome
MONDO:0007625	focal epithelial hyperplasia of the oral mucosa
MONDO:0007626	familial congenital palsy of trochlear nerve
MONDO:0007627	focal facial dermal dysplasia type I
MONDO:0007628	foveal hypoplasia 1
MONDO:0007630	North Carolina macular dystrophy
MONDO:0007631	chromosome 16p12.1 deletion syndrome, 520kb
MONDO:0007633	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness
MONDO:0007634	intellectual disability, FRA12A type
MONDO:0007635	Frasier syndrome
MONDO:0007636	frontorhiny
MONDO:0007637	corneal dystrophy, Fuchs endothelial, 1
MONDO:0007639	fundus albipunctatus
MONDO:0007640	Sorsby's fundus dystrophy
MONDO:0007642	isolated agenesis of gallbladder
MONDO:0007643	gamma-A-globulin, defect in assembly of
MONDO:0007644	IgAD1
MONDO:0007646	Gamstorp-Wohlfart syndrome
MONDO:0007647	gastric volvulus, intrathoracic
MONDO:0007648	hereditary diffuse gastric adenocarcinoma
MONDO:0007650	MALT lymphoma
MONDO:0007651	gastrocutaneous syndrome
MONDO:0007652	gastric mucosal hypertrophy
MONDO:0007653	genochondromatosis
MONDO:0007654	genu valgum, st. Helena familial
MONDO:0007655	fissured tongue
MONDO:0007656	Gerstmann-Straussler-Scheinker syndrome
MONDO:0007657	giant neutrophil leukocytes
MONDO:0007660	familial ossifying fibroma
MONDO:0007661	Tourette syndrome
MONDO:0007662	anterior segment dysgenesis 4
MONDO:0007663	glaucoma with elevated episcleral venous pressure
MONDO:0007664	glaucoma 1, open angle, A
MONDO:0007665	primary open angle glaucoma
MONDO:0007666	glaucoma-sleep apnea syndrome
MONDO:0007667	subependymoma
MONDO:0007668	globulin anomaly involving beta (2A)-globulin
MONDO:0007669	renal cysts and diabetes syndrome
MONDO:0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
MONDO:0007671	fibronectin glomerulopathy
MONDO:0007672	glomuvenous malformation
MONDO:0007673	Glucoglycinuria
MONDO:0007677	hyperglycinuria
MONDO:0007679	GMS syndrome
MONDO:0007680	multinodular goiter-cystic kidney-polydactyly syndrome
MONDO:0007681	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
MONDO:0007682	granddad syndrome
MONDO:0007683	Grant syndrome
MONDO:0007685	granulosis rubra nasi
MONDO:0007686	gray platelet syndrome
MONDO:0007687	graying of hair, precocious
MONDO:0007688	Myhre syndrome
MONDO:0007690	aromatase excess syndrome
MONDO:0007691	Guillain-Barre syndrome, familial
MONDO:0007693	hypertrichosis cubiti-short stature syndrome
MONDO:0007694	hairy nose tip
MONDO:0007695	hairy palms and soles
MONDO:0007696	Emery-Nelson syndrome
MONDO:0007698	hand-foot-genital syndrome
MONDO:0007699	Hashimoto thyroiditis
MONDO:0007700	hawkinsinuria
MONDO:0007701	progressive familial heart block type II
MONDO:0007702	heart-hand syndrome type 3
MONDO:0007705	Heinz body anemia
MONDO:0007706	cavernous hemangiomas of face-supraumbilical midline raphe syndrome
MONDO:0007707	hemangiomas of small intestine
MONDO:0007708	Kasabach-Merritt syndrome
MONDO:0007709	hematuria, benign familial
MONDO:0007710	facial hemiatrophy
MONDO:0007711	Bencze syndrome
MONDO:0007712	oculoauriculovertebral spectrum with radial defects
MONDO:0007713	clonic hemifacial spasm
MONDO:0007715	hemolytic poikilocytic anemia due to reduced ankyrin binding sites
MONDO:0007716	alpha thalassemia-intellectual disability syndrome type 1
MONDO:0007717	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain
MONDO:0007718	hepatic adenomas, familial
MONDO:0007719	diaphragmatic hernia, congenital 1
MONDO:0007720	hernia, double inguinal
MONDO:0007721	hiatus hernia
MONDO:0007722	heterochromia iridis
MONDO:0007723	Hirschsprung disease, susceptibility to, 1
MONDO:0007724	hirsutism-skeletal dysplasia-intellectual disability syndrome
MONDO:0007725	hereditary progressive mucinous histiocytosis
MONDO:0007726	hip dysplasia, Beukes type
MONDO:0007727	autosomal dominant familial periodic fever
MONDO:0007728	acne inversa, familial, 1
MONDO:0007729	developmental dysplasia of the hip 1
MONDO:0007732	Holt-Oram syndrome
MONDO:0007733	holoprosencephaly 3
MONDO:0007734	holoprosencephaly 4
MONDO:0007735	congenital Horner syndrome
MONDO:0007737	humeroradial synostosis
MONDO:0007738	spondyloepiphyseal dysplasia with congenital joint dislocations
MONDO:0007739	Huntington disease
MONDO:0007740	Wagner disease
MONDO:0007743	attention deficit-hyperactivity disorder
MONDO:0007744	cholesterol-ester transfer protein deficiency
MONDO:0007745	Gilbert syndrome
MONDO:0007746	orthostatic hypotensive disorder, Streeten type
MONDO:0007747	isolated hyperchlorhidrosis
MONDO:0007748	hypercalciuria, absorptive, 2
MONDO:0007750	hypercholesterolemia, familial, 1
MONDO:0007751	hypercholesterolemia, autosomal dominant, type B
MONDO:0007752	hyperheparinemia
MONDO:0007753	Frey syndrome
MONDO:0007754	hyperhidrosis palmaris ET plantaris
MONDO:0007755	hyperimmunoglobulin G1(A1) syndrome
MONDO:0007756	hyperkeratosis lenticularis perstans
MONDO:0007757	hyperkeratosis-hyperpigmentation syndrome
MONDO:0007758	epidermolytic palmoplantar keratoderma
MONDO:0007759	hyperlipidemia, familial combined, LPL related
MONDO:0007760	hyperlipoproteinemia, type II, and deafness
MONDO:0007761	hyperlipoproteinemia type IV
MONDO:0007762	hyperlipoproteinemia type V
MONDO:0007763	nonpapillary renal cell carcinoma
MONDO:0007764	autosomal dominant osteosclerosis, Worth type
MONDO:0007765	hyperostosis cranialis interna
MONDO:0007766	Morgagni-Stewart-Morel syndrome
MONDO:0007767	hyperparathyroidism 1
MONDO:0007768	hyperparathyroidism 2 with jaw tumors
MONDO:0007769	hyperpigmentation of eyelid
MONDO:0007770	hyperpigmentation of Fuldauer and Kuijpers
MONDO:0007771	hyperpigmentation with or without hypopigmentation, familial progressive
MONDO:0007772	pseudohypoaldosteronism type 2A
MONDO:0007773	hyperproglucagonemia
MONDO:0007774	hyperreflexia
MONDO:0007775	hypersecretion of adrenal androgens, familial
MONDO:0007776	hypersensitivity pneumonitis, familial
MONDO:0007777	hypertaurinuric cardiomyopathy
MONDO:0007779	autosomal dominant Opitz G/BBB syndrome
MONDO:0007780	hypertelorism, Teebi type
MONDO:0007781	essential hypertension, genetic
MONDO:0007782	hyperthermia, cutaneous, with headaches and nausea
MONDO:0007783	malignant hyperthermia, susceptibility to, 1
MONDO:0007784	selective pituitary resistance to thyroid hormone
MONDO:0007785	hyperthyroxinemia, dystransthyretinemic
MONDO:0007787	Ambras type hypertrichosis universalis congenita
MONDO:0007788	hypertriglyceridemia, familial
MONDO:0007789	hypertrophia musculorum vera
MONDO:0007790	Charcot-Marie-Tooth disease type 3
MONDO:0007791	familial hypocalciuric hypercalcemia 1
MONDO:0007792	familial hypocalciuric hypercalcemia 2
MONDO:0007793	hypochondroplasia
MONDO:0007794	hypogonadotropic hypogonadism 7 with or without anosmia
MONDO:0007795	mullerian duct anomalies-limb anomalies syndrome
MONDO:0007796	hypoparathyroidism, familial isolated 1
MONDO:0007797	hypoparathyroidism-deafness-renal disease syndrome
MONDO:0007799	hypophosphatemic bone disease
MONDO:0007800	chromosome 18p deletion syndrome
MONDO:0007802	hypospadias 3, autosomal
MONDO:0007803	multiple system atrophy
MONDO:0007804	Pallister-hall syndrome
MONDO:0007805	hypotrichosis 2
MONDO:0007806	hypotrichosis 4
MONDO:0007808	ichthyosis hystrix of Curth-Macklin
MONDO:0007809	ichthyosis hystrix gravior
MONDO:0007810	autosomal dominant ichthyosis vulgaris
MONDO:0007811	ichthyosis-cheek-eyebrow syndrome
MONDO:0007812	ichthyosis, lamellar, autosomal dominant
MONDO:0007813	ichthyosis bullosa of Siemens
MONDO:0007814	immune deficiency, familial variable
MONDO:0007816	immune suppression
MONDO:0007817	IgE responsiveness, atopic
MONDO:0007818	Hyper-IgE recurrent infection syndrome 1
MONDO:0007819	solitary median maxillary central incisor syndrome
MONDO:0007820	fused mandibular incisors
MONDO:0007824	incisors, lower central, absence of
MONDO:0007825	incisors, rotation of upper central
MONDO:0007826	incisors, shovel-shaped
MONDO:0007827	inclusion body myositis
MONDO:0007828	indifference to pain, congenital, autosomal dominant
MONDO:0007829	cholestasis, intrahepatic, of pregnancy, 1
MONDO:0007830	insensitivity to pain with hyperplastic Myelinopathy
MONDO:0007831	insect Stings, hypersensitivity to
MONDO:0007833	iris pigment layer, cleavage of
MONDO:0007834	islet cell adenomatosis
MONDO:0007835	intussusception
MONDO:0007836	IVIC syndrome
MONDO:0007837	Johnson neuroectodermal syndrome
MONDO:0007838	Jacobsen syndrome
MONDO:0007839	Aase-Smith syndrome
MONDO:0007840	internal carotid artery, spontaneous dissection of
MONDO:0007841	coxopodopatellar syndrome
MONDO:0007842	Ehlers-Danlos syndrome type 11
MONDO:0007843	Kabuki syndrome 1
MONDO:0007844	hypogonadotropic hypogonadism 2 with or without anosmia
MONDO:0007846	KBG syndrome
MONDO:0007847	keloid formation
MONDO:0007848	autosomal dominant keratitis
MONDO:0007849	keratitis fugax hereditaria
MONDO:0007850	autosomal dominant keratitis-ichthyosis-deafness syndrome
MONDO:0007851	keratoconus 1
MONDO:0007852	palmoplantar keratoderma-deafness syndrome
MONDO:0007853	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
MONDO:0007854	keratolytic winter erythema
MONDO:0007855	keratosis, familial actinic
MONDO:0007856	palmoplantar keratoderma-esophageal carcinoma syndrome
MONDO:0007857	keratosis palmaris et plantaris-clinodactyly syndrome
MONDO:0007858	palmoplantar keratoderma, punctate type 1A
MONDO:0007859	palmoplantar keratoderma i, striate, focal, or diffuse
MONDO:0007860	focal palmoplantar and gingival keratoderma
MONDO:0007861	isolated cloverleaf skull syndrome
MONDO:0007862	Waardenburg syndrome type 3
MONDO:0007863	Kleine-Levin syndrome
MONDO:0007864	angioosteohypertrophic syndrome
MONDO:0007865	knuckle pads
MONDO:0007866	Bart-Pumphrey syndrome
MONDO:0007867	nonsyndromic congenital nail disorder 2
MONDO:0007868	hyperekplexia 1
MONDO:0007869	Kyrle disease
MONDO:0007870	labia minora, incomplete adhesion of
MONDO:0007871	familial congenital nasolacrimal duct obstruction
MONDO:0007872	LADD syndrome
MONDO:0007873	lactic acidosis, chronic adult form
MONDO:0007874	trichorhinophalangeal syndrome type II
MONDO:0007875	Larsen syndrome
MONDO:0007876	laryngeal abductor paralysis
MONDO:0007877	laryngeal adductor paralysis
MONDO:0007878	congenital laryngomalacia
MONDO:0007879	larynx atresia
MONDO:0007880	congenital laryngeal web
MONDO:0007881	tooth agenesis, selective, 4
MONDO:0007882	lattice degeneration of retina leading to retinal detachment
MONDO:0007883	lazy leukocyte syndrome
MONDO:0007884	leg ulcers, familial, of juvenile onset
MONDO:0007885	Legg-Calve-Perthes disease
MONDO:0007886	uterine corpus leiomyoma
MONDO:0007887	leiomyoma of vulva and esophagus
MONDO:0007888	hereditary leiomyomatosis and renal cell cancer
MONDO:0007889	lentigines
MONDO:0007890	lentiginosis, centrofacial neurodysraphic
MONDO:0007891	familial generalized lentiginosis
MONDO:0007892	Lenz-Majewski hyperostotic dwarfism
MONDO:0007893	Noonan syndrome with multiple lentigines
MONDO:0007894	Leri pleonosteosis
MONDO:0007895	platyspondylic dysplasia, Torrance type
MONDO:0007896	acute monocytic leukemia
MONDO:0007898	leukocyte nuclear appendages, hereditary prevalence of
MONDO:0007899	lichen sclerosus et atrophicus
MONDO:0007900	nonsyndromic congenital nail disorder 3
MONDO:0007901	levator-medial rectus synkinesis
MONDO:0007902	lichen planus, familial
MONDO:0007903	Li-Fraumeni syndrome 1
MONDO:0007904	median nodule of the upper lip
MONDO:0007905	lip, hamartomatous
MONDO:0007906	familial partial lipodystrophy, Dunnigan type
MONDO:0007907	lipoma of the conjunctiva
MONDO:0007908	multiple symmetric lipomatosis
MONDO:0007909	familial multiple lipomatosis
MONDO:0007912	lithium transport
MONDO:0007914	lumbar stenosis, familial
MONDO:0007915	systemic lupus erythematosus
MONDO:0007916	primary intestinal lymphangiectasia
MONDO:0007917	lymphedema-cerebral arteriovenous anomaly syndrome
MONDO:0007918	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007919	lymphedema, hereditary, 1A
MONDO:0007920	Meige disease
MONDO:0007921	yellow nail syndrome
MONDO:0007922	lymphedema-distichiasis syndrome
MONDO:0007923	macrocephaly, benign familial
MONDO:0007924	Bannayan-Riley-Ruvalcaba syndrome
MONDO:0007925	chromosome 5q deletion syndrome
MONDO:0007927	congenital macroglossia
MONDO:0007930	Bernard-Soulier syndrome, type A2, autosomal dominant
MONDO:0007931	vitelliform macular dystrophy 2
MONDO:0007932	age related macular degeneration 2
MONDO:0007933	vitelliform macular dystrophy 1
MONDO:0007934	benign concentric annular macular dystrophy
MONDO:0007935	cystoid macular edema
MONDO:0007936	macular dystrophy, fenestrated sheen type
MONDO:0007937	renal hypomagnesemia 2
MONDO:0007938	46,XY sex reversal 4
MONDO:0007939	malignant hyperthermia, susceptibility to, 2
MONDO:0007940	malignant hyperthermia, susceptibility to, 3
MONDO:0007941	malocclusion due to protuberant upper front teeth
MONDO:0007943	Nager acrofacial dysostosis
MONDO:0007944	Treacher-Collins syndrome 1
MONDO:0007945	mannose 6-phosphate receptor recognition defect, Lebanese type
MONDO:0007946	jaw-winking syndrome
MONDO:0007947	Marfan syndrome
MONDO:0007948	marfanoid hypermobility syndrome
MONDO:0007949	Marshall syndrome
MONDO:0007950	mastocytosis
MONDO:0007951	masticatory muscles, hypertrophy of
MONDO:0007952	maxillofacial dysostosis
MONDO:0007953	Binder syndrome
MONDO:0007955	Meckel diverticulum
MONDO:0007956	Pai syndrome
MONDO:0007957	mediosternal depigmentation line
MONDO:0007958	familial medullary thyroid carcinoma
MONDO:0007959	medulloblastoma
MONDO:0007961	megalencephaly, autosomal dominant
MONDO:0007962	Megalodactyly
MONDO:0007963	melanoma, cutaneous malignant, susceptibility to, 1
MONDO:0007964	dysplastic nevus syndrome
MONDO:0007965	melanoma, malignant familial intraocular
MONDO:0007967	melanoma and neural system tumor syndrome
MONDO:0007969	Melkersson-Rosenthal syndrome
MONDO:0007970	melorheostosis
MONDO:0007971	delayed membranous cranial ossification
MONDO:0007972	Meniere disease
MONDO:0007973	mental and growth retardation with amblyopia
MONDO:0007974	intellectual disability, autosomal dominant 1
MONDO:0007975	meralgia paraesthetica, familial
MONDO:0007976	mesomelic dwarfism of hypoplastic tibia and radius type
MONDO:0007977	mesomelic dysplasia, Kantaputra type
MONDO:0007979	metachondromatosis
MONDO:0007981	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A
MONDO:0007982	metaphyseal chondrodysplasia, Jansen type
MONDO:0007983	Schmid metaphyseal chondrodysplasia
MONDO:0007984	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
MONDO:0007985	metatarsus varus, type 1
MONDO:0007986	metatropic dysplasia
MONDO:0007987	Kniest dysplasia
MONDO:0007988	autosomal dominant primary microcephaly
MONDO:0007989	congenital microcoria
MONDO:0007990	multiple benign circumferential skin creases on limbs
MONDO:0007991	microcephaly-deafness-intellectual disability syndrome
MONDO:0007992	microcornea-glaucoma-absent frontal sinuses syndrome
MONDO:0007993	microgastria-limb reduction defect syndrome
MONDO:0007994	micromelic bone dysplasia with cloverleaf skull
MONDO:0007995	microphthalmia, isolated, with cataract 1
MONDO:0007996	microphthalmia, isolated, with corectopia
MONDO:0007997	microspherophakia with hernia
MONDO:0007998	microspherophakia-metaphyseal dysplasia syndrome
MONDO:0007999	holoprosencephaly 2
MONDO:0008001	milia, multiple eruptive
MONDO:0008002	mirror movements 1
MONDO:0008003	autosomal dominant progressive external ophthalmoplegia
MONDO:0008005	cardiospondylocarpofacial syndrome
MONDO:0008006	Mobius syndrome
MONDO:0008007	tooth ankylosis
MONDO:0008008	MOMO syndrome
MONDO:0008009	monilethrix
MONDO:0008012	Monophalangy of great toe
MONDO:0008013	chromosome 9p deletion syndrome
MONDO:0008014	nondisjunction
MONDO:0008015	motion sickness
MONDO:0008016	trismus-pseudocamptodactyly syndrome
MONDO:0008017	hereditary mucoepithelial dysplasia
MONDO:0008018	Muir-Torre syndrome
MONDO:0008019	mullerian aplasia and hyperandrogenism
MONDO:0008020	multiple exostoses with spastic tetraparesis
MONDO:0008021	Cowden syndrome 1
MONDO:0008022	muscle cramps, familial
MONDO:0008023	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
MONDO:0008024	neuronopathy, distal hereditary motor, type 7A
MONDO:0008025	neuronopathy, distal hereditary motor, type 2A
MONDO:0008026	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MONDO:0008027	muscular atrophy, malignant neurogenic
MONDO:0008028	muscular dystrophy, Barnes type
MONDO:0008029	Bethlem myopathy
MONDO:0008030	facioscapulohumeral muscular dystrophy 1
MONDO:0008031	facioscapulohumeral muscular dystrophy 2
MONDO:0008034	muscular dystrophy, pseudohypertrophic, with Internalized capillaries
MONDO:0008035	muscular hypoplasia, congenital universal, of Krabbe
MONDO:0008036	myasthenia, limb-girdle, autoimmune
MONDO:0008037	myelinated optic nerve fibers
MONDO:0008038	ataxia-pancytopenia syndrome
MONDO:0008039	tropical spastic paraparesis
MONDO:0008040	transient myeloproliferative syndrome
MONDO:0008041	myoclonic epilepsy, Hartung type
MONDO:0008043	myoclonus-cerebellar ataxia-deafness syndrome
MONDO:0008044	myoclonic dystonia 11
MONDO:0008045	spinal muscular atrophy-progressive myoclonic epilepsy syndrome
MONDO:0008046	autosomal dominant myoglobinuria
MONDO:0008047	episodic ataxia type 1
MONDO:0008048	autosomal dominant centronuclear myopathy
MONDO:0008049	myopathy, distal, infantile-onset
MONDO:0008050	MYH7-related skeletal myopathy
MONDO:0008051	tubular aggregate myopathy
MONDO:0008052	myopathy with storage of glycoproteins and Glycosaminoglycans
MONDO:0008053	myopia 2, autosomal dominant
MONDO:0008054	juvenile dermatomyositis
MONDO:0008055	myotonia congenita, autosomal dominant
MONDO:0008056	myotonic dystrophy type 1
MONDO:0008057	Carney complex, type 1
MONDO:0008058	cylindrical spirals myopathy
MONDO:0008059	Naegeli-Franceschetti-Jadassohn syndrome
MONDO:0008060	nonsyndromic congenital nail disorder 1
MONDO:0008061	nail-patella syndrome
MONDO:0008062	narcolepsy 1
MONDO:0008063	nasal alar collapse, bilateral
MONDO:0008064	nasal bones, absence of
MONDO:0008065	nasal groove, familial transverse
MONDO:0008066	nasal hyperpigmentation, familial transverse
MONDO:0008067	nasopharyngeal carcinoma, susceptibility to, 2
MONDO:0008069	necrotizing encephalomyelopathy, subacute, of Leigh, adult
MONDO:0008070	nemaline myopathy 3
MONDO:0008071	autosomal dominant progressive nephropathy with hypertension
MONDO:0008072	IgA nephropathy, susceptibility to, 1
MONDO:0008073	familial juvenile hyperuricemic nephropathy type 1
MONDO:0008076	amyotrophic neuralgia
MONDO:0008078	neurofibromatosis, familial spinal
MONDO:0008079	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
MONDO:0008080	neurofibromatosis, type III, mixed central and peripheral
MONDO:0008081	neurofibromatosis, type IV, of Riccardi
MONDO:0008082	multiple endocrine neoplasia type 2B
MONDO:0008083	neuronal ceroid lipofuscinosis 4B
MONDO:0008084	neuropathy, congenital, with arthrogryposis multiplex
MONDO:0008086	neuropathy, hereditary sensory and autonomic, type 1A
MONDO:0008087	hereditary neuropathy with liability to pressure palsies
MONDO:0008088	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
MONDO:0008089	neutropenia, chronic familial
MONDO:0008090	cyclic hematopoiesis
MONDO:0008092	hereditary neutrophilia
MONDO:0008093	nevus, epidermal
MONDO:0008094	familial multiple nevi flammei
MONDO:0008095	nevus anemicus
MONDO:0008096	nevus flammeus of nape of neck
MONDO:0008097	linear nevus sebaceus syndrome
MONDO:0008098	mesomelic dwarfism, Nievergelt type
MONDO:0008099	congenital stationary night blindness autosomal dominant 2
MONDO:0008100	nipples inverted
MONDO:0008101	familial supernumerary nipples
MONDO:0008102	sick sinus syndrome 2, autosomal dominant
MONDO:0008103	noduli Cutanei, multiple, with urinary tract abnormalities
MONDO:0008104	Noonan syndrome 1
MONDO:0008105	nose, anomalous shape of
MONDO:0008106	nystagmus 2, congenital, autosomal dominant
MONDO:0008107	nystagmus, hereditary vertical
MONDO:0008108	oculocerebrocutaneous syndrome
MONDO:0008109	ocular cicatricial pemphigoid
MONDO:0008111	oculodentodigital dysplasia
MONDO:0008113	Schilbach-Rott syndrome
MONDO:0008114	obsessive-compulsive disorder
MONDO:0008115	Feingold syndrome type 1
MONDO:0008116	oculopharyngeal muscular dystrophy
MONDO:0008118	odontomatosis-aortae esophagus stenosis syndrome
MONDO:0008119	spinocerebellar ataxia type 1
MONDO:0008120	spinocerebellar ataxia type 7
MONDO:0008121	onychogryposis, pedal, with keratosis plantaris and coarse hair
MONDO:0008123	autosomal dominant omodysplasia
MONDO:0008124	omphalocele, autosomal
MONDO:0008125	nonsyndromic congenital nail disorder 5
MONDO:0008127	ophthalmomandibulomelic dysplasia
MONDO:0008128	ophthalmoplegia, familial static
MONDO:0008129	ophthalmoplegia, familial total, with iris transillumination
MONDO:0008130	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
MONDO:0008131	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
MONDO:0008132	optic atrophy with demyelinating disease of CNS
MONDO:0008133	optic atrophy 3
MONDO:0008134	autosomal dominant optic atrophy, classic form
MONDO:0008135	optic atrophy 13 with retinal and foveal abnormalities
MONDO:0008136	isolated optic nerve hypoplasia
MONDO:0008137	orofaciodigital syndrome X
MONDO:0008138	syndromic orbital border hypoplasia
MONDO:0008139	OSLAM syndrome
MONDO:0008140	ossified ear cartilages
MONDO:0008141	ossicular malformations, familial
MONDO:0008142	Thiemann disease, familial form
MONDO:0008145	Ollier disease
MONDO:0008146	osteogenesis imperfecta type 1
MONDO:0008147	osteogenesis imperfecta type 2
MONDO:0008148	osteogenesis imperfecta type 4
MONDO:0008149	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
MONDO:0008150	osteoglophonic dwarfism
MONDO:0008151	gnathodiaphyseal dysplasia
MONDO:0008152	multicentric carpo-tarsal osteolysis with or without nephropathy
MONDO:0008153	progressive osseous heteroplasia
MONDO:0008154	osteomas of mandible
MONDO:0008155	osteomesopyknosis
MONDO:0008156	autosomal dominant osteopetrosis 2
MONDO:0008157	Buschke-Ollendorff syndrome
MONDO:0008158	dacryocystitis-osteopoikilosis syndrome
MONDO:0008160	osteosclerosis with ichthyosis and fractures
MONDO:0008161	otodental syndrome
MONDO:0008163	otofaciocervical syndrome
MONDO:0008164	otosclerosis 1
MONDO:0008165	southeast Asian ovalocytosis
MONDO:0008166	ovalocytosis, hereditary hemolytic, with defective erythropoiesis
MONDO:0008167	dermoid cyst of ovary
MONDO:0008168	ovarian fibroma
MONDO:0008169	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
MONDO:0008170	ovarian cancer
MONDO:0008172	hypertrophic osteoarthropathy, primary, autosomal dominant
MONDO:0008173	pachyonychia congenita 1
MONDO:0008174	pachyonychia congenita 2
MONDO:0008175	pacman dysplasia
MONDO:0008176	Paget disease of bone 3
MONDO:0008177	extramammary Paget disease
MONDO:0008178	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MONDO:0008179	paroxysmal extreme pain disorder
MONDO:0008180	congenital velopharyngeal incompetence
MONDO:0008181	palmaris longus muscle, absence of
MONDO:0008182	nasopalpebral lipoma-coloboma syndrome
MONDO:0008183	annular pancreas
MONDO:0008184	pancreas, dorsal, agenesis of
MONDO:0008185	hereditary chronic pancreatitis
MONDO:0008186	pancytopenia and occlusive vascular disease
MONDO:0008187	panic disorder 1
MONDO:0008188	papillomatosis, confluent and reticulated
MONDO:0008189	papillomatosis, florid, of nipple
MONDO:0008192	paragangliomas 1
MONDO:0008193	paralysis agitans, juvenile, of Hunt
MONDO:0008194	Paramolar tubercle of bolk
MONDO:0008195	paramyotonia congenita of Von Eulenburg
MONDO:0008196	parastremmatic dwarfism
MONDO:0008197	parietal foramina 1
MONDO:0008198	parietal foramina with cleidocranial dysplasia
MONDO:0008199	late-onset Parkinson disease
MONDO:0008200	autosomal dominant Parkinson disease 1
MONDO:0008201	Perry syndrome
MONDO:0008202	Parotidomegaly, hereditary bilateral
MONDO:0008203	Passovoy factor defect
MONDO:0008205	patella aplasia/hypoplasia
MONDO:0008206	benign paroxysmal tonic upgaze of childhood with ataxia
MONDO:0008207	chondromalacia patellae
MONDO:0008208	patella, familial recurrent dislocation of
MONDO:0008209	Char syndrome
MONDO:0008210	patterned macular dystrophy 1
MONDO:0008211	pseudoleprechaunism syndrome, Patterson type
MONDO:0008212	Pechet factor deficiency
MONDO:0008213	pectus excavatum
MONDO:0008214	Pelger-Huet anomaly
MONDO:0008215	adult-onset autosomal dominant demyelinating leukodystrophy
MONDO:0008216	pelvic lipomatosis with crossed renal ectopia
MONDO:0008217	pelvis-shoulder dysplasia
MONDO:0008218	Hailey-Hailey disease
MONDO:0008219	pemphigus vulgaris
MONDO:0008221	prolidase deficiency
MONDO:0008222	Andersen-Tawil syndrome
MONDO:0008223	Hypokalemic periodic paralysis
MONDO:0008224	hyperkalemic periodic paralysis
MONDO:0008225	normokalemic periodic paralysis
MONDO:0008226	periodontitis, aggressive 1
MONDO:0008227	peripheral dysostosis
MONDO:0008228	pernicious anemia
MONDO:0008229	peroneal nerve, accessory deep
MONDO:0008231	Peyronie disease
MONDO:0008232	phagocytosis, plasma-related defect 1N
MONDO:0008233	phaeochromocytoma
MONDO:0008234	multiple endocrine neoplasia type 2A
MONDO:0008235	pheochromocytoma-islet cell tumor syndrome
MONDO:0008236	phlebectasia of lips
MONDO:0008237	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
MONDO:0008240	6-phosphogluconolactonase deficiency
MONDO:0008242	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
MONDO:0008243	Pick disease
MONDO:0008244	piebaldism
MONDO:0008245	piebald trait-neurologic defects syndrome
MONDO:0008246	pigmented paravenous retinochoroidal atrophy
MONDO:0008247	robin sequence-oligodactyly syndrome
MONDO:0008248	pigmented purpuric eruption
MONDO:0008249	pilonidal sinus
MONDO:0008250	isolated growth hormone deficiency type II
MONDO:0008251	familial pityriasis rubra pilaris
MONDO:0008253	platelet aggregation, spontaneous
MONDO:0008254	platelet disorder, undefined
MONDO:0008255	platelet factor 3 deficiency
MONDO:0008257	platelet responsiveness to adrenaline, depressed
MONDO:0008258	platelet signal processing defect
MONDO:0008259	familial spontaneous pneumothorax
MONDO:0008260	Kindler syndrome
MONDO:0008261	hereditary sclerosing poikiloderma, Weary type
MONDO:0008262	Poland syndrome
MONDO:0008263	polycystic kidney disease 1
MONDO:0008265	polycystic liver disease 1
MONDO:0008266	polydactyly, postaxial, type A1
MONDO:0008267	orofaciodigital syndrome V
MONDO:0008268	polydactyly-myopia syndrome
MONDO:0008269	polydactyly of a biphalangeal thumb
MONDO:0008270	polydactyly of a triphalangeal thumb
MONDO:0008271	polydactyly of an index finger
MONDO:0008272	polysyndactyly 4
MONDO:0008273	actinic prurigo
MONDO:0008275	familial expansile osteolysis
MONDO:0008276	generalized juvenile polyposis/juvenile polyposis coli
MONDO:0008278	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
MONDO:0008280	Peutz-Jeghers syndrome
MONDO:0008281	polyposis, intestinal, scattered and discrete
MONDO:0008282	polyposis, intestinal, with multiple exostoses
MONDO:0008283	Cronkhite-Canada syndrome
MONDO:0008284	polyposis of gastric fundus without polyposis coli
MONDO:0008285	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MONDO:0008286	crossed polysyndactyly
MONDO:0008287	Greig cephalopolysyndactyly syndrome
MONDO:0008288	popliteal cyst
MONDO:0008289	brain small vessel disease 1 with or without ocular anomalies
MONDO:0008290	porokeratosis 1, Mibelli type
MONDO:0008291	porokeratosis plantaris palmaris et disseminata
MONDO:0008292	punctate palmoplantar keratoderma type 2
MONDO:0008293	porokeratosis 3, disseminated superficial actinic type
MONDO:0008294	acute intermittent porphyria
MONDO:0008295	sporadic porphyria cutanea tarda
MONDO:0008296	familial porphyria cutanea tarda
MONDO:0008297	variegate porphyria
MONDO:0008298	postaxial tetramelic oligodactyly
MONDO:0008299	posterior column ataxia
MONDO:0008300	Prader-Willi syndrome
MONDO:0008301	Guttmacher syndrome
MONDO:0008302	centra precocious puberty 1
MONDO:0008303	familial male-limited precocious puberty
MONDO:0008304	premature chromatid separation trait
MONDO:0008305	Currarino triad
MONDO:0008306	ABri amyloidosis
MONDO:0008307	presenile dementia, Kraepelin type
MONDO:0008308	priapism, familial idiopathic
MONDO:0008309	primary release disorder of platelets
MONDO:0008310	Hutchinson-Gilford progeria syndrome
MONDO:0008311	progeria-short stature-pigmented nevi syndrome
MONDO:0008312	autosomal dominant prognathism
MONDO:0008313	pelvic organ prolapse, susceptibility to
MONDO:0008314	pronation-supination of the forearm, impairment of
MONDO:0008316	thrombophilia due to protein C deficiency, autosomal dominant
MONDO:0008318	Proteus syndrome
MONDO:0008319	protoporphyria, erythropoietic, 1
MONDO:0008320	Protrusio acetabuli
MONDO:0008321	pruritus, hereditary localized
MONDO:0008322	pseudoachondroplasia
MONDO:0008323	Liddle syndrome
MONDO:0008324	pseudoarthrogryposis
MONDO:0008325	Pseudoatrophoderma colli
MONDO:0008326	pseudocholinesterase, increase in plasma level of
MONDO:0008327	exfoliation syndrome
MONDO:0008328	glaucoma 1, open angle, P
MONDO:0008329	autosomal dominant pseudohypoaldosteronism type 1
MONDO:0008332	pseudo-von Willebrand disease
MONDO:0008333	pseudoxanthoma elasticum, forme fruste
MONDO:0008334	psoriasis 1, susceptibility to
MONDO:0008335	short stature-craniofacial anomalies-genital hypoplasia syndrome
MONDO:0008336	pterygium colli, isolated
MONDO:0008337	familial pterygium of the conjunctiva
MONDO:0008338	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
MONDO:0008339	antecubital pterygium syndrome
MONDO:0008340	congenital ptosis
MONDO:0008341	ptosis-strabismus-ectopic pupils syndrome
MONDO:0008342	pubic bone dysplasia
MONDO:0008343	pulmonary atresia with ventricular septal defect
MONDO:0008344	pulmonary edema of mountaineers, susceptibility to
MONDO:0008345	idiopathic pulmonary fibrosis
MONDO:0008346	pulmonary hemosiderosis
MONDO:0008347	idiopathic and/or familial pulmonary arterial hypertension
MONDO:0008348	pulmonary nodular lymphoid hyperplasia
MONDO:0008349	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities
MONDO:0008350	pulmonic stenosis and deafness
MONDO:0008352	pupillary membrane, persistence of
MONDO:0008353	pruritic urticarial papules and plaques of pregnancy
MONDO:0008354	purpura simplex
MONDO:0008355	pyloric stenosis, infantile hypertrophic, 1
MONDO:0008356	radial heads, posterior dislocation of
MONDO:0008357	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
MONDO:0008358	radial ray hypoplasia-choanal atresia syndrome
MONDO:0008359	radio-renal syndrome
MONDO:0008361	radius, aplasia of, with cleft lip/palate
MONDO:0008362	ragweed sensitivity
MONDO:0008363	raindrop hypopigmentation
MONDO:0008364	Raynaud disease
MONDO:0008365	recombinant 8 syndrome
MONDO:0008366	red cell permeability defect
MONDO:0008367	red cell phospholipid defect with hemolysis
MONDO:0008368	autosomal dominant distal renal tubular acidosis
MONDO:0008369	proximal renal tubular acidosis
MONDO:0008370	reticular dystrophy of retinal pigment epithelium
MONDO:0008372	retinal aplasia
MONDO:0008373	retinal arterial tortuosity
MONDO:0008374	retinal cone dystrophy type 1
MONDO:0008375	retinal detachment
MONDO:0008376	retinal venous beading
MONDO:0008377	retinitis pigmentosa 1
MONDO:0008378	retinitis pigmentosa 9
MONDO:0008379	retinitis pigmentosa 10
MONDO:0008380	retinoblastoma
MONDO:0008381	dominant pericentral pigmentary retinopathy
MONDO:0008382	retinoschisis, autosomal dominant
MONDO:0008383	rheumatoid arthritis
MONDO:0008384	rheumatoid nodulosis
MONDO:0008385	rhiny
MONDO:0008386	Axenfeld-Rieger syndrome type 1
MONDO:0008387	ring dermoid of cornea
MONDO:0008388	ringed hair disease
MONDO:0008389	autosomal dominant Robinow syndrome
MONDO:0008390	Rombo syndrome
MONDO:0008391	Robinow-Sorauf syndrome
MONDO:0008392	Roussy-Levy syndrome
MONDO:0008393	Rubinstein-Taybi syndrome due to CREBBP mutations
MONDO:0008394	Silver-Russell syndrome
MONDO:0008395	Ruvalcaba syndrome
MONDO:0008396	oculodental syndrome, Rutherfurd type
MONDO:0008397	aplasia of lacrimal and salivary glands
MONDO:0008400	salivary duct calculi
MONDO:0008401	pleomorphic adenoma
MONDO:0008402	cleft palate-large ears-small head syndrome
MONDO:0008403	scalp defects-postaxial polydactyly syndrome
MONDO:0008404	scalp-ear-nipple syndrome
MONDO:0008406	autosomal recessive Emery-Dreifuss muscular dystrophy
MONDO:0008407	neurogenic scapuloperoneal syndrome, Kaeser type
MONDO:0008408	scapuloperoneal spinal muscular atrophy, autosomal dominant
MONDO:0008409	MYH7-related late-onset scapuloperoneal muscular dystrophy
MONDO:0008410	Scheuermann disease
MONDO:0008411	ulnar-mammary syndrome
MONDO:0008414	schizophrenia 1
MONDO:0008416	palmoplantar keratoderma-sclerodactyly syndrome
MONDO:0008417	sclerocornea, autosomal dominant
MONDO:0008418	scleroderma, familial progressive
MONDO:0008420	seborrheic keratosis
MONDO:0008421	flat face-microstomia-ear anomaly syndrome
MONDO:0008422	autosomal dominant sideroblastic anemia
MONDO:0008423	sinus node disease and myopia
MONDO:0008424	sella turcica, bridged
MONDO:0008425	omphalocele syndrome, Shprintzen-Goldberg type
MONDO:0008426	Shprintzen-Goldberg syndrome
MONDO:0008428	septooptic dysplasia
MONDO:0008430	skeletal dysplasia with delayed epiphyseal and carpal bone ossification
MONDO:0008431	slipped femoral capital epiphyses
MONDO:0008433	small cell lung carcinoma
MONDO:0008434	Smith-Magenis syndrome
MONDO:0008436	Sneddon syndrome
MONDO:0008437	hereditary spastic paraplegia 3A
MONDO:0008438	hereditary spastic paraplegia 4
MONDO:0008439	spastic paraplegia-epilepsy-intellectual disability syndrome
MONDO:0008440	spastic paraplegia-nephritis-deafness syndrome
MONDO:0008441	spastic paraplegia with associated extrapyramidal signs
MONDO:0008442	spastic paraplegia-neuropathy-poikiloderma syndrome
MONDO:0008443	spastic paraplegia-precocious puberty syndrome
MONDO:0008444	spastic paraplegia, optic atrophy, and dementia
MONDO:0008445	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
MONDO:0008447	hereditary spherocytosis type 1
MONDO:0008448	spheroid body myopathy
MONDO:0008450	spinal arachnoiditis
MONDO:0008451	neuronopathy, distal hereditary motor, type 1
MONDO:0008452	spinal muscular atrophy, facioscapulohumeral type
MONDO:0008453	adult-onset proximal spinal muscular atrophy, autosomal dominant
MONDO:0008454	spinal intradural arachnoid cysts
MONDO:0008455	spinal muscular atrophy, segmental
MONDO:0008456	spinocerebellar ataxia with rigidity and peripheral neuropathy
MONDO:0008457	spinocerebellar ataxia type 6
MONDO:0008458	spinocerebellar ataxia type 2
MONDO:0008459	spinocerebellar atrophy with pupillary paralysis
MONDO:0008460	splenogonadal fusion-limb defects-micrognathia syndrome
MONDO:0008461	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
MONDO:0008462	split lower lip
MONDO:0008463	split-hand and split-foot with hypodontia
MONDO:0008464	split hand-foot malformation 1
MONDO:0008465	Patterson-Stevenson-Fontaine syndrome
MONDO:0008466	Karsch-Neugebauer syndrome
MONDO:0008467	Czeizel-Losonci syndrome
MONDO:0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008470	spondyloepiphyseal dysplasia with punctate corneal dystrophy
MONDO:0008471	spondyloepiphyseal dysplasia congenita
MONDO:0008472	spondyloepiphyseal dysplasia, MacDermot type
MONDO:0008473	spondyloepimetaphyseal dysplasia, Maroteaux type
MONDO:0008474	spondyloepiphyseal dysplasia tarda, autosomal dominant
MONDO:0008475	spondylolisthesis
MONDO:0008476	spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008477	spondylometaphyseal dysplasia, Kozlowski type
MONDO:0008478	spondylometaphyseal dysplasia, Schmidt type
MONDO:0008479	spondylometaphyseal dysplasia, 'corner fracture' type
MONDO:0008481	spondylosis, cervical
MONDO:0008482	Sprengel deformity
MONDO:0008483	stuttering, familial persistent, 1
MONDO:0008484	stapes ankylosis with broad thumbs and toes
MONDO:0008485	sebocystomatosis
MONDO:0008486	steatocystoma multiplex-natal teeth syndrome
MONDO:0008487	polycystic ovary syndrome
MONDO:0008488	holoprosencephaly-radial heart renal anomalies syndrome
MONDO:0008489	sternum, premature obliteration of sutures of
MONDO:0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant
MONDO:0008491	stiff-person syndrome
MONDO:0008492	stiff skin syndrome
MONDO:0008493	overhydrated hereditary stomatocytosis
MONDO:0008494	cryohydrocytosis
MONDO:0008495	platelet storage pool deficiency
MONDO:0008496	storm syndrome
MONDO:0008497	Stormorken syndrome
MONDO:0008498	strabismus, susceptibility to
MONDO:0008499	short stature-wormian bones-dextrocardia syndrome
MONDO:0008500	striae distensae, familial
MONDO:0008501	Sturge-Weber syndrome
MONDO:0008502	sulfhemoglobinemia, congenital
MONDO:0008503	Worster-Drought syndrome
MONDO:0008504	supravalvular aortic stenosis
MONDO:0008506	symphalangism of toes
MONDO:0008508	symphalangism, C. S. Lewis type
MONDO:0008509	distal symphalangism
MONDO:0008510	symphalangism with multiple anomalies of hands and feet
MONDO:0008511	proximal symphalangism
MONDO:0008512	syndactyly type 1
MONDO:0008513	synpolydactyly type 1
MONDO:0008514	syndactyly type 3
MONDO:0008515	syndactyly type 4
MONDO:0008516	syndactyly type 5
MONDO:0008517	syndactyly-polydactyly-ear lobe syndrome
MONDO:0008518	calcaneonavicular coalition
MONDO:0008519	multiple synostoses syndrome 1
MONDO:0008520	brachydactyly-elbow wrist dysplasia syndrome
MONDO:0008521	tarsal-carpal coalition syndrome
MONDO:0008522	synovial chondromatosis, familial, with dwarfism
MONDO:0008523	Blau syndrome
MONDO:0008524	syringomas, multiple
MONDO:0008525	syringomyelia, isolated
MONDO:0008526	talonavicular coalition
MONDO:0008527	tarsal coalition
MONDO:0008530	teeth, odd shapes of
MONDO:0008532	teeth present at birth
MONDO:0008533	teeth, supernumerary
MONDO:0008534	generalized essential telangiectasia
MONDO:0008535	telangiectasia, hereditary hemorrhagic, type 1
MONDO:0008537	telecanthus
MONDO:0008538	temporal arteritis
MONDO:0008540	extensor tendons of finger anomalies
MONDO:0008541	spermatic cord torsion
MONDO:0008542	tetralogy of fallot
MONDO:0008543	tetralogy of fallot and glaucoma
MONDO:0008544	tetramelic monodactyly
MONDO:0008545	thalassemia, beta+, silent allele
MONDO:0008546	thanatophoric dysplasia type 1
MONDO:0008547	thanatophoric dysplasia type 2
MONDO:0008549	thoracic dysostosis, isolated
MONDO:0008551	thoracolaryngopelvic dysplasia
MONDO:0008552	platelet-type bleeding disorder 16
MONDO:0008553	platelet-type bleeding disorder 17
MONDO:0008554	thrombocythemia 1
MONDO:0008555	thrombocytopenia 2
MONDO:0008556	thrombocytopenia, cyclic
MONDO:0008557	Paris-Trousseau thrombocytopenia
MONDO:0008558	autoimmune thrombocytopenic purpura
MONDO:0008559	thrombophilia due to thrombin defect
MONDO:0008560	thrombophilia due to activated protein C resistance
MONDO:0008561	thumb deformity
MONDO:0008562	thumb deformity-alopecia-pigmentation anomaly syndrome
MONDO:0008563	thumb stiffness-brachydactyly-intellectual disability syndrome
MONDO:0008564	DiGeorge syndrome
MONDO:0008566	thyroid cancer, nonmedullary, 2
MONDO:0008567	thyroid cancer, nonmedullary, 1
MONDO:0008568	thyroid hormone plasma membrane transport defect
MONDO:0008569	thyroid hormone resistance, generalized, autosomal dominant
MONDO:0008570	thyrotoxic periodic paralysis, susceptibility to, 1
MONDO:0008571	Blount disease, infantile
MONDO:0008572	tibia, hypoplasia or aplasia of, with polydactyly
MONDO:0008573	tibial torsion, bilateral medial
MONDO:0008576	toe, fifth, number of phalanges 1N
MONDO:0008577	toe, misshapen
MONDO:0008578	toe, rotated fifth
MONDO:0008579	toes, relative length of first and second
MONDO:0008580	toes, space between first and second
MONDO:0008581	malposition of teeth with or without hypodontia/oligodontia
MONDO:0008582	tooth and nail syndrome
MONDO:0008583	inherited torticollis
MONDO:0008584	torus palatinus and torus mandibularis
MONDO:0008585	HELLP syndrome
MONDO:0008586	esophageal atresia/tracheoesophageal fistula
MONDO:0008587	tracheobronchopathia osteochondroplastica
MONDO:0008588	hereditary geniospasm
MONDO:0008589	tremor of intention, ataxia, and lipofuscinosis
MONDO:0008590	tremor, hereditary essential, 1
MONDO:0008591	tremor-nystagmus-duodenal ulcer syndrome
MONDO:0008592	tricho-dento-osseous syndrome
MONDO:0008593	trichomegaly
MONDO:0008594	familial multiple discoid fibromas
MONDO:0008595	trichoepitheliomas, multiple desmoplastic
MONDO:0008596	trichorhinophalangeal syndrome type I
MONDO:0008597	trichorhinophalangeal syndrome, type III
MONDO:0008598	trichodysplasia-xeroderma syndrome
MONDO:0008599	trigeminal neuralgia
MONDO:0008600	trigger thumb
MONDO:0008601	triglyceride storage disease, type 1
MONDO:0008602	triglyceride storage disease, type 2
MONDO:0008603	trigonocephaly 1
MONDO:0008604	triphalangeal thumb with double phalanges
MONDO:0008605	triphalangeal thumb, Nonopposable
MONDO:0008606	Say-field-Coldwell syndrome
MONDO:0008607	triphalangeal thumbs-brachyectrodactyly syndrome
MONDO:0008608	Down syndrome
MONDO:0008609	Tristichiasis
MONDO:0008610	blue color blindness
MONDO:0008611	humerus trochlea aplasia
MONDO:0008612	tuberous sclerosis 1
MONDO:0008613	Tuftsin deficiency
MONDO:0008615	tune deafness
MONDO:0008617	inflammatory bowel disease 11
MONDO:0008618	mesomelic dwarfism, Reinhardt-Pfeiffer type
MONDO:0008619	ulna metaphyseal dysplasia syndrome
MONDO:0008620	upper limb mesomelic dysplasia
MONDO:0008621	uncombable hair syndrome
MONDO:0008622	tricho-retino-dento-digital syndrome
MONDO:0008623	Undritz anomaly
MONDO:0008624	Upington disease
MONDO:0008626	ureter, bifid or double
MONDO:0008627	ureter cancer
MONDO:0008628	ureterocele
MONDO:0008629	urolithiasis, uric acid, autosomal dominant
MONDO:0008630	urinary bladder, atony of
MONDO:0008632	urticaria, aquagenic
MONDO:0008633	Muckle-Wells syndrome
MONDO:0008634	urticaria, familial localized heat
MONDO:0008635	uterine anomalies
MONDO:0008636	double uterus-hemivagina-renal agenesis syndrome
MONDO:0008637	bifid uvula
MONDO:0008638	varicose disease
MONDO:0008640	vasculitis, lymphocytic, nodular
MONDO:0008641	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MONDO:0008642	VACTERL/vater association
MONDO:0008644	velocardiofacial syndrome
MONDO:0008645	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
MONDO:0008647	hypertrophic cardiomyopathy 1
MONDO:0008648	ventricular tachycardia, familial
MONDO:0008649	venular insufficiency, systemic
MONDO:0008650	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
MONDO:0008651	vertebral hypoplasia with lumbar kyphosis
MONDO:0008652	congenital vertical talus
MONDO:0008653	vesicoureteral reflux 1
MONDO:0008654	nystagmus 4, congenital, autosomal dominant
MONDO:0008655	vestibulocochlear dysfunction, progressive
MONDO:0008656	benign paroxysmal positional nystagmus
MONDO:0008659	transcobalamin I deficiency
MONDO:0008660	autosomal dominant hypophosphatemic rickets
MONDO:0008661	vitiligo
MONDO:0008662	autosomal dominant vitreoretinochoroidopathy
MONDO:0008663	snowflake vitreoretinal degeneration
MONDO:0008665	ptosis-vocal cord paralysis syndrome
MONDO:0008666	volvulus of midgut
MONDO:0008667	von Hippel-Lindau disease
MONDO:0008668	von Willebrand disease 1
MONDO:0008669	vulvovaginitis, allergic seminal
MONDO:0008670	Waardenburg syndrome type 1
MONDO:0008671	Waardenburg syndrome type 2A
MONDO:0008672	Watson syndrome
MONDO:0008673	acrofacial dysostosis, Weyers type
MONDO:0008674	WHIM syndrome
MONDO:0008675	freeman-Sheldon syndrome
MONDO:0008676	white sponge nevus 1
MONDO:0008678	Williams syndrome
MONDO:0008679	Wilms tumor 1
MONDO:0008680	Wilms tumor 2
MONDO:0008681	WAGR syndrome
MONDO:0008682	Denys-Drash syndrome
MONDO:0008683	Wilms tumor 3
MONDO:0008684	Wolf-Hirschhorn syndrome
MONDO:0008685	Wolff-Parkinson-white syndrome
MONDO:0008686	isolated familial woolly hair disorder
MONDO:0008687	Woronets trait
MONDO:0008688	WT limb-blood syndrome
MONDO:0008689	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
MONDO:0008690	xeroderma pigmentosum, autosomal dominant, mild
MONDO:0008691	zinc, elevated plasma
MONDO:0008692	abetalipoproteinemia
MONDO:0008693	ablepharon macrostomia syndrome
MONDO:0008694	pseudoprogeria syndrome
MONDO:0008695	chorea-acanthocytosis
MONDO:0008696	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
MONDO:0008698	achalasia
MONDO:0008699	achalasia microcephaly syndrome
MONDO:0008700	acheiropody
MONDO:0008701	achondrogenesis type IA
MONDO:0008702	achondrogenesis type II
MONDO:0008703	acromesomelic dysplasia, Grebe type
MONDO:0008704	short-limb skeletal dysplasia with severe combined immunodeficiency
MONDO:0008705	lysosomal acid phosphatase deficiency
MONDO:0008706	Ackerman syndrome
MONDO:0008707	acro-renal-mandibular syndrome
MONDO:0008708	acrocallosal syndrome
MONDO:0008709	acrocephalopolydactyly
MONDO:0008710	RAB23-related Carpenter syndrome
MONDO:0008711	Goodman syndrome
MONDO:0008712	acrocraniofacial dysostosis
MONDO:0008713	acrodermatitis enteropathica
MONDO:0008714	acrofacial dysostosis Rodriguez type
MONDO:0008715	acrofrontofacionasal dysostosis
MONDO:0008716	acrogeria
MONDO:0008717	acromesomelic dysplasia, Hunter-Thompson type
MONDO:0008719	acrorenal syndrome, autosomal recessive
MONDO:0008720	congenital isolated adrenocorticotropic hormone deficiency
MONDO:0008721	medium chain acyl-CoA dehydrogenase deficiency
MONDO:0008722	short chain acyl-CoA dehydrogenase deficiency
MONDO:0008723	very long chain acyl-CoA dehydrogenase deficiency
MONDO:0008724	adducted thumbs-arthrogryposis syndrome, Christian type
MONDO:0008725	congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO:0008726	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MONDO:0008727	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
MONDO:0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MONDO:0008729	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
MONDO:0008730	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
MONDO:0008731	familial adrenal hypoplasia with absent pituitary luteinizing hormone
MONDO:0008732	adrenal hypoplasia, cytomegalic type
MONDO:0008733	familial glucocorticoid deficiency
MONDO:0008734	adrenocortical carcinoma, hereditary
MONDO:0008735	adrenocortical unresponsiveness to ACTH with postreceptor defect
MONDO:0008736	peroxisome biogenesis disorder 2B
MONDO:0008737	congenital afibrinogenemia
MONDO:0008738	aganglionosis, total intestinal
MONDO:0008739	agenesis of cerebral white matter
MONDO:0008740	agnathia-otocephaly complex
MONDO:0008741	PAGOD syndrome
MONDO:0008742	autosomal dominant severe congenital neutropenia
MONDO:0008743	Stimmler syndrome
MONDO:0008744	alar cartilages hypoplasia-coloboma-telecanthus syndrome
MONDO:0008745	oculocutaneous albinism type 1A
MONDO:0008746	oculocutaneous albinism type 2
MONDO:0008747	oculocutaneous albinism type 3
MONDO:0008748	Hermansky-Pudlak syndrome 1
MONDO:0008749	pseudohypoparathyroidism type 2
MONDO:0008750	microcephaly-albinism-digital anomalies syndrome
MONDO:0008751	corticosterone methyloxidase type 1 deficiency
MONDO:0008752	Alexander disease
MONDO:0008753	alkaptonuria
MONDO:0008754	alopecia - contractures - dwarfism - intellectual disability syndrome
MONDO:0008755	Moynahan syndrome
MONDO:0008756	alopecia - intellectual disability syndrome
MONDO:0008757	alopecia universalis congenita
MONDO:0008758	mitochondrial DNA depletion syndrome 4a
MONDO:0008759	oxoglutaricaciduria
MONDO:0008760	beta-ketothiolase deficiency
MONDO:0008762	autosomal recessive Alport syndrome
MONDO:0008763	Alstrom syndrome
MONDO:0008764	Leber congenital amaurosis 1
MONDO:0008765	Leber congenital amaurosis 2
MONDO:0008766	amaurosis-hypertrichosis syndrome
MONDO:0008767	neuronal ceroid lipofuscinosis 3
MONDO:0008768	neuronal ceroid lipofuscinosis 4A
MONDO:0008769	neuronal ceroid lipofuscinosis 2
MONDO:0008770	amelogenesis imperfecta type 1C
MONDO:0008771	amelogenesis imperfecta type 1G
MONDO:0008772	amelogenesis imperfecta type 2A1
MONDO:0008773	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
MONDO:0008774	2-aminoadipic 2-oxoadipic aciduria
MONDO:0008775	Amobarbital, deficient N-hydroxylation of
MONDO:0008776	amyloidosis of gingiva and conjunctiva, with intellectual disability
MONDO:0008777	gelatinous drop-like corneal dystrophy
MONDO:0008778	amyloidosis, cutaneous bullous
MONDO:0008780	amyotrophic lateral sclerosis type 2, juvenile
MONDO:0008781	juvenile amyotrophic lateral sclerosis with dementia
MONDO:0008782	amyotrophic lateral sclerosis with polyglucosan bodies
MONDO:0008783	Tangier disease
MONDO:0008785	sideroblastic anemia 2
MONDO:0008786	pyridoxine-responsive sideroblastic anemia
MONDO:0008787	microcytic anemia with liver iron overload
MONDO:0008788	IRIDA syndrome
MONDO:0008789	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane
MONDO:0008790	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
MONDO:0008791	isolated anencephaly/exencephaly
MONDO:0008792	familial angiolipomatosis
MONDO:0008793	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
MONDO:0008794	anhidrosis, familial generalized, with abnormal or absent sweat glands
MONDO:0008795	aniridia-cerebellar ataxia-intellectual disability syndrome
MONDO:0008796	aniridia-renal agenesis-psychomotor retardation syndrome
MONDO:0008797	anodontia
MONDO:0008798	nonsyndromic congenital nail disorder 4
MONDO:0008799	anophthalmia/microphthalmia-esophageal atresia syndrome
MONDO:0008800	microphthalmia with limb anomalies
MONDO:0008801	anosmia for isobutyric acid
MONDO:0008802	antithrombin, familial hemorrhagic diathesis due to
MONDO:0008803	Antley-Bixler syndrome
MONDO:0008806	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
MONDO:0008807	apnea, central sleep
MONDO:0008808	aplasia cutis congenita-intestinal lymphangiectasia syndrome
MONDO:0008809	polyneuropathy-hand defect syndrome
MONDO:0008810	familial apolipoprotein C-II deficiency
MONDO:0008811	XK aprosencephaly
MONDO:0008812	AREDYLD syndrome
MONDO:0008814	hyperargininemia
MONDO:0008815	argininosuccinic aciduria
MONDO:0008816	Chiari malformation type II
MONDO:0008817	arterial calcification, generalized, of infancy, 1
MONDO:0008818	arterial tortuosity syndrome
MONDO:0008819	arteriosclerosis, severe juvenile
MONDO:0008821	arthrogryposis, distal, with intellectual disability and characteristic facies
MONDO:0008822	arthrogryposis, renal dysfunction, and cholestasis 1
MONDO:0008823	arthrogryposis multiplex congenita 2, neurogenic type
MONDO:0008825	arthrogryposis multiplex congenita-whistling face syndrome
MONDO:0008826	arthrogryposis-hyperkeratosis syndrome, lethal form
MONDO:0008827	progressive pseudorheumatoid arthropathy of childhood
MONDO:0008828	camptodactyly-arthropathy-coxa vara-pericarditis syndrome
MONDO:0008829	chylous ascites
MONDO:0008830	aspartylglucosaminuria
MONDO:0008831	asphyxiating thoracic dystrophy 1
MONDO:0008832	right atrial isomerism
MONDO:0008833	renal-hepatic-pancreatic dysplasia 1
MONDO:0008834	asthma, nasal polyps, and aspirin intolerance
MONDO:0008835	asthma, short stature, and elevated IgA
MONDO:0008836	ataxia with myoclonic epilepsy and presenile dementia
MONDO:0008837	ataxia, deafness, and cardiomyopathy
MONDO:0008838	ataxia - deafness - intellectual disability syndrome
MONDO:0008839	ataxia-microcephaly-cataract syndrome
MONDO:0008840	ataxia telangiectasia
MONDO:0008841	ataxia-telangiectasia with generalized skin pigmentation and early death
MONDO:0008842	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
MONDO:0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
MONDO:0008844	Athrombia, essential
MONDO:0008845	atonic-astatic syndrome of Foerster
MONDO:0008846	atransferrinemia
MONDO:0008847	atrichia with papular lesions
MONDO:0008848	atrioventricular dissociation
MONDO:0008849	atrophoderma vermiculata
MONDO:0008850	Cooper-Jabs syndrome
MONDO:0008852	congenital central hypoventilation syndrome
MONDO:0008853	Barber-Say syndrome
MONDO:0008854	Bardet-Biedl syndrome 1
MONDO:0008855	MHC class II deficiency
MONDO:0008856	immunodeficiency 27A
MONDO:0008857	Beemer-Ertbruggen syndrome
MONDO:0008858	Behr syndrome
MONDO:0008859	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
MONDO:0008860	beta-aminoisobutyric acid, urinary excretion of
MONDO:0008861	3-methylcrotonyl-CoA carboxylase 1 deficiency
MONDO:0008862	3-methylcrotonyl-CoA carboxylase 2 deficiency
MONDO:0008864	Biemond syndrome type 2
MONDO:0008865	Bietti crystalline corneoretinal dystrophy
MONDO:0008866	bifid nose, autosomal recessive
MONDO:0008867	biliary atresia
MONDO:0008868	biliary malformation with renal tubular insufficiency
MONDO:0008869	Seckel syndrome 1
MONDO:0008870	bird headed-dwarfism, Montreal type
MONDO:0008871	microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008872	microcephalic osteodysplastic primordial dwarfism type II
MONDO:0008873	microcephalic osteodysplastic primordial dwarfism, type 3
MONDO:0008874	Bangstad syndrome
MONDO:0008875	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MONDO:0008876	Bloom syndrome
MONDO:0008877	blue diaper syndrome
MONDO:0008878	bone dysplasia, lethal Holmgren type
MONDO:0008879	Bowen-Conradi syndrome
MONDO:0008880	Bowen syndrome of multiple malformations
MONDO:0008881	kyphomelic dysplasia
MONDO:0008882	congenital bowing of long bones
MONDO:0008883	brachydactyly, type A2, with microcephaly
MONDO:0008884	oculoosteocutaneous syndrome
MONDO:0008885	Elsahy-Waters syndrome
MONDO:0008886	Sabinas brittle hair syndrome
MONDO:0008887	bronchiectasis with or without elevated sweat chloride 1
MONDO:0008889	thromboangiitis obliterans
MONDO:0008890	progressive bulbar palsy
MONDO:0008891	riboflavin transporter deficiency
MONDO:0008892	progressive familial intrahepatic cholestasis type 1
MONDO:0008893	C syndrome
MONDO:0008894	cataract-hypertrichosis-intellectual disability syndrome
MONDO:0008895	hereditary arterial and articular multiple calcification syndrome
MONDO:0008896	campomelia, Cumming type
MONDO:0008898	camptodactyly syndrome, Guadalajara type 1
MONDO:0008899	camptodactyly syndrome, Guadalajara type 2
MONDO:0008900	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
MONDO:0008901	Tel Hashomer camptodactyly syndrome
MONDO:0008903	lung cancer
MONDO:0008904	camptomelic syndrome, long-limb type
MONDO:0008905	predisposition to invasive fungal disease due to CARD9 deficiency
MONDO:0008907	PMM2-CDG
MONDO:0008908	MGAT2-CDG
MONDO:0008909	congenital disorder of glycosylation, type i/IIx
MONDO:0008910	carboxypeptidase N deficiency
MONDO:0008911	cardiac lipidosis, familial
MONDO:0008912	cardiac septal defects with coarctation of the aorta
MONDO:0008913	cardiac valvular defect, developmental
MONDO:0008914	cardioauditory syndrome of Sanchez Cascos
MONDO:0008915	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
MONDO:0008916	cardiomyopathy associated with myopathy and sudden death
MONDO:0008917	heart defects-limb shortening syndrome
MONDO:0008918	carnitine-acylcarnitine translocase deficiency
MONDO:0008919	systemic primary carnitine deficiency disease
MONDO:0008920	carnitine deficiency, myopathic
MONDO:0008921	carnosinemia
MONDO:0008922	Sengers syndrome
MONDO:0008923	autosomal recessive palmoplantar keratoderma and congenital alopecia
MONDO:0008924	congenital cataract-ichthyosis syndrome
MONDO:0008925	cataract 46 juvenile-onset
MONDO:0008926	COFS syndrome
MONDO:0008927	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
MONDO:0008928	cataract-ataxia-deafness syndrome
MONDO:0008929	cataract-intellectual disability-hypogonadism syndrome
MONDO:0008930	celiac disease, susceptibility to, 1
MONDO:0008931	Cenani-Lenz syndactyly syndrome
MONDO:0008932	premature centromere division
MONDO:0008933	cephalin lipidosis
MONDO:0008934	cerebellar ataxia-ectodermal dysplasia syndrome
MONDO:0008935	cerebellar ataxia-hypogonadism syndrome
MONDO:0008936	cerebellar ataxia and neurosensory deafness
MONDO:0008937	cerebellar ataxia, benign, with thermoanalgesia
MONDO:0008938	early-onset cerebellar ataxia with retained tendon reflexes
MONDO:0008939	isolated cerebellar hypoplasia/agenesis
MONDO:0008940	endosteal sclerosis-cerebellar hypoplasia syndrome
MONDO:0008941	hepatic fibrosis-renal cysts-intellectual disability syndrome
MONDO:0008943	autosomal recessive spinocerebellar ataxia 2
MONDO:0008944	Joubert syndrome 1
MONDO:0008946	cerebral angiopathy, dysphoric
MONDO:0008947	bilateral striopallidodentate calcinosis
MONDO:0008948	cerebrotendinous xanthomatosis
MONDO:0008950	cerebral sclerosis similar to Pelizaeus-Merzbacher disease
MONDO:0008951	cerebrocortical degeneration of infancy
MONDO:0008952	cerebrofaciothoracic dysplasia
MONDO:0008953	peroxisome biogenesis disorder 1A (Zellweger)
MONDO:0008954	peroxisome biogenesis disorder 2A (Zellweger)
MONDO:0008955	cerebrooculofacioskeletal syndrome 1
MONDO:0008956	congenital neuronal ceroid lipofuscinosis
MONDO:0008957	cervical vertebrae, agenesis of
MONDO:0008958	Klippel-Feil syndrome 2, autosomal recessive
MONDO:0008959	CHAND syndrome
MONDO:0008960	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
MONDO:0008961	Charcot-Marie-Tooth disease type 4A
MONDO:0008962	Griscelli syndrome type 1
MONDO:0008963	Chediak-Higashi syndrome
MONDO:0008964	congenital secretory chloride diarrhea 1
MONDO:0008965	CHARGE syndrome
MONDO:0008966	Aagenaes syndrome
MONDO:0008967	congenital bile acid synthesis defect 4
MONDO:0008968	cholestasis with gallstone, ataxia, and visual disturbance
MONDO:0008969	cholesterol pneumonia
MONDO:0008970	chondrodysplasia Blomstrand type
MONDO:0008971	chondrodysplasia calcificans Metaphysealis
MONDO:0008972	rhizomelic chondrodysplasia punctata type 1
MONDO:0008974	Greenberg dysplasia
MONDO:0008975	otospondylomegaepiphyseal dysplasia
MONDO:0008976	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
MONDO:0008977	chondrosarcoma
MONDO:0008978	chordoma
MONDO:0008979	chorea, benign familial
MONDO:0008980	ataxia-hypogonadism-choroidal dystrophy syndrome
MONDO:0008981	infantile choroidocerebral calcification syndrome
MONDO:0008982	central areolar choroidal dystrophy
MONDO:0008983	chromosomal instability with tissue-specific radiosensitivity
MONDO:0008984	ciliary discoordination due to random ciliary orientation
MONDO:0008985	ciliary dyskinesia with transposition of ciliary microtubules
MONDO:0008986	circumvallate placenta syndrome
MONDO:0008988	citrullinemia type I
MONDO:0008989	citrulline transport defect
MONDO:0008990	cleft larynx, posterior
MONDO:0008991	Verloove Vanhorick-Brubakk syndrome
MONDO:0008992	Juberg-Hayward syndrome
MONDO:0008993	cleft palate-stapes fixation-oligodontia syndrome
MONDO:0008994	cleidocranial dysplasia, recessive form
MONDO:0008995	Yunis-Varon syndrome
MONDO:0008996	COACH syndrome 1
MONDO:0008998	Cockayne syndrome type 3
MONDO:0008999	Cohen syndrome
MONDO:0009000	familial reactive perforating collagenosis
MONDO:0009001	macular coloboma-cleft palate-hallux valgus syndrome
MONDO:0009002	coloboma, ocular, autosomal recessive
MONDO:0009003	achromatopsia 2
MONDO:0009005	complement component C1r/C1s deficiency
MONDO:0009006	complement component 2 deficiency
MONDO:0009007	Jalili syndrome
MONDO:0009008	heart defect - tongue hamartoma - polysyndactyly syndrome
MONDO:0009009	hypoplasminogenemia
MONDO:0009011	constriction rings syndrome
MONDO:0009012	multiple pterygium-malignant hyperthermia syndrome
MONDO:0009013	convulsive disorder, familial, with prenatal or early onset
MONDO:0009014	cornea plana 2
MONDO:0009015	corneal dystrophy-perceptive deafness syndrome
MONDO:0009016	band keratopathy
MONDO:0009017	corneal degeneration, band-shaped spheroid
MONDO:0009018	central cloudy dystrophy of François
MONDO:0009019	congenital hereditary endothelial dystrophy of cornea
MONDO:0009020	macular corneal dystrophy
MONDO:0009021	Toriello-Carey syndrome
MONDO:0009022	corpus callosum, agenesis of
MONDO:0009024	cortical blindness-intellectual disability-polydactyly syndrome
MONDO:0009025	apparent mineralocorticoid excess
MONDO:0009026	Costello syndrome
MONDO:0009027	cramps, familial adolescent
MONDO:0009028	Crane-Heise syndrome
MONDO:0009029	cranial nerves, congenital paresis of
MONDO:0009030	cranial nerves, recurrent paresis of
MONDO:0009031	craniodiaphyseal dysplasia
MONDO:0009032	cranioectodermal dysplasia
MONDO:0009033	temtamy syndrome
MONDO:0009034	craniofacial dyssynostosis
MONDO:0009035	craniometaphyseal dysplasia, autosomal recessive
MONDO:0009036	cardiocranial syndrome, Pfeiffer type
MONDO:0009037	craniosynostosis with anomalies of the cranial base and digits
MONDO:0009038	craniosynostosis-fibular aplasia syndrome
MONDO:0009039	Baller-Gerold syndrome
MONDO:0009040	craniosynostosis-intellectual disability syndrome of 51N and Gettig
MONDO:0009041	craniosynostosis-intellectual disability-clefting syndrome
MONDO:0009042	craniotelencephalic dysplasia
MONDO:0009044	Crigler-Najjar syndrome
MONDO:0009045	cataract-nephropathy-encephalopathy syndrome
MONDO:0009046	Fraser syndrome
MONDO:0009047	cryptorchidism
MONDO:0009048	curved nail of fourth toe
MONDO:0009049	Cushing syndrome due to macronodular adrenal hyperplasia
MONDO:0009050	Cushing disease due to pituitary adenoma
MONDO:0009051	cutaneous photosensitivity-lethal colitis syndrome
MONDO:0009052	cutis laxa, autosomal recessive, type 1A
MONDO:0009053	ALDH18A1-related de Barsy syndrome
MONDO:0009054	autosomal recessive cutis laxa type 2, classic type
MONDO:0009055	cutis marmorata telangiectatica congenita
MONDO:0009056	cutis verticis gyrata and intellectual disability
MONDO:0009057	cyanosis and hepatic disease
MONDO:0009058	cystathioninuria
MONDO:0009059	cysteine Peptiduria
MONDO:0009060	cystic disease of lung
MONDO:0009061	cystic fibrosis
MONDO:0009062	cystic fibrosis-gastritis-megaloblastic anemia syndrome
MONDO:0009063	ventriculomegaly-cystic kidney disease
MONDO:0009064	ocular cystinosis
MONDO:0009066	juvenile nephropathic cystinosis
MONDO:0009067	cystinuria
MONDO:0009068	cytochrome-c oxidase deficiency disease
MONDO:0009069	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
MONDO:0009070	D-glyceric aciduria
MONDO:0009071	hereditary renal hypouricemia
MONDO:0009072	Dandy-Walker syndrome
MONDO:0009073	Ritscher-Schinzel syndrome 1
MONDO:0009074	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
MONDO:0009075	Dandy-Walker malformation-postaxial polydactyly syndrome
MONDO:0009076	autosomal recessive nonsyndromic deafness 1A
MONDO:0009077	deafness, congenital, and familial myoclonic epilepsy
MONDO:0009079	DOORS syndrome
MONDO:0009080	split hand-foot malformation 1 with sensorineural hearing loss
MONDO:0009081	deafness, congenital, with total albinism
MONDO:0009082	high myopia-sensorineural deafness syndrome
MONDO:0009083	conductive deafness-malformed external ear syndrome
MONDO:0009084	conductive deafness-ptosis-skeletal anomalies syndrome
MONDO:0009085	deafness-vitiligo-achalasia syndrome
MONDO:0009086	deafness-small bowel diverticulosis-neuropathy syndrome
MONDO:0009087	deafness, neural, congenital moderate
MONDO:0009088	deafness, neural, with atypical atopic dermatitis
MONDO:0009089	deafness-oligodontia syndrome
MONDO:0009090	deafness, sensorineural, autosomal-mitochondrial type
MONDO:0009091	non-acquired combined pituitary hormone deficiency with spine abnormalities
MONDO:0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
MONDO:0009093	dermatoleukodystrophy
MONDO:0009094	dermochondrocorneal dystrophy
MONDO:0009095	dermatoosteolysis, Kirghizian type
MONDO:0009096	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
MONDO:0009097	persistent hyperplastic primary vitreous, autosomal recessive
MONDO:0009098	dextrocardia with unusual facies and microphthalmia
MONDO:0009099	nephrogenic diabetes insipidus-intracranial calcification syndrome
MONDO:0009100	IDDM 1
MONDO:0009101	Wolfram syndrome 1
MONDO:0009102	diaminopentanuria
MONDO:0009103	diaphragmatic hernia 2
MONDO:0009104	Donnai-Barrow syndrome
MONDO:0009105	trichohepatoenteric syndrome
MONDO:0009106	diastematomyelia
MONDO:0009107	diastrophic dysplasia
MONDO:0009108	hyperdibasic aminoaciduria type 1
MONDO:0009109	lysinuric protein intolerance
MONDO:0009110	dicarboxylic aminoaciduria
MONDO:0009111	dihydropyrimidinuria
MONDO:0009112	rhizomelic chondrodysplasia punctata type 2
MONDO:0009113	hemolytic anemia due to diphosphoglycerate mutase deficiency
MONDO:0009114	congenital sucrase-isomaltase deficiency
MONDO:0009115	congenital lactase deficiency
MONDO:0009118	disseminated sclerosis with narcolepsy
MONDO:0009119	diverticulosis, small-intestinal
MONDO:0009120	diverticulosis of bowel, hernia, and retinal detachment
MONDO:0009121	von Voss-Cherstvoy syndrome
MONDO:0009122	Dohle bodies and leukemia
MONDO:0009123	dopamine beta-hydroxylase deficiency
MONDO:0009124	Dubowitz syndrome
MONDO:0009126	duodenal atresia
MONDO:0009127	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
MONDO:0009128	dwarfism, intellectual disability, and eye abnormality
MONDO:0009129	dwarfism, proportionate, with hip dislocation
MONDO:0009130	Dyggve-Melchior-Clausen disease
MONDO:0009131	Riley-Day syndrome
MONDO:0009132	dysautonomia-like disorder
MONDO:0009133	cerebellar ataxia, intellectual disability, and dysequilibrium
MONDO:0009134	congenital dyserythropoietic anemia type 2
MONDO:0009135	anemia, congenital dyserythropoietic, type 1a
MONDO:0009136	dyskeratosis congenita, autosomal recessive 1
MONDO:0009137	dysmyelination with jaundice
MONDO:0009138	dysosteosclerosis
MONDO:0009139	dyssegmental dysplasia, Rolland-Desbuquois type
MONDO:0009140	Silverman-Handmaker type dyssegmental dysplasia
MONDO:0009141	torsion dystonia 2
MONDO:0009142	dystonia with Ringbinden
MONDO:0009143	Meier-Gorlin syndrome 1
MONDO:0009144	Ebstein anomaly
MONDO:0009145	SchC6pf-Schulz-Passarge syndrome
MONDO:0009146	ectodermal dysplasia-sensorineural deafness syndrome
MONDO:0009147	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
MONDO:0009148	Rosselli-Gulienetti syndrome
MONDO:0009149	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
MONDO:0009150	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
MONDO:0009151	cleft lip/palate-ectodermal dysplasia syndrome
MONDO:0009152	ectopia lentis 2, isolated, autosomal recessive
MONDO:0009153	ectopia lentis et pupillae
MONDO:0009154	hypothyroidism, congenital, nongoitrous, 5
MONDO:0009155	EEM syndrome
MONDO:0009156	ectrodactyly-polydactyly syndrome
MONDO:0009157	split hand-foot malformation 6
MONDO:0009158	Ehlers-Danlos syndrome, fibronectinemic type
MONDO:0009159	Ehlers-Danlos syndrome, cardiac valvular type
MONDO:0009161	Ehlers-Danlos syndrome, dermatosparaxis type
MONDO:0009162	Ellis-van Creveld syndrome
MONDO:0009163	encephalomalacia, multilocular
MONDO:0009164	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
MONDO:0009165	Aicardi-Goutieres syndrome 1
MONDO:0009166	pontocerebellar hypoplasia type 4
MONDO:0009167	Bonnemann-Meinecke-Reich syndrome
MONDO:0009168	Fowler syndrome
MONDO:0009169	endocardial fibroelastosis
MONDO:0009170	endocardial fibroelastosis and coarctation of abdominal aorta
MONDO:0009172	enterocolitis
MONDO:0009173	congenital enteropathy due to enteropeptidase deficiency
MONDO:0009174	protein-losing enteropathy
MONDO:0009175	eosinophilic fasciitis
MONDO:0009176	epidermodysplasia verruciformis
MONDO:0009177	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
MONDO:0009178	epidermolysis bullosa dystrophica Neurotrophica
MONDO:0009179	recessive dystrophic epidermolysis bullosa
MONDO:0009180	junctional epidermolysis bullosa, non-Herlitz type
MONDO:0009181	epidermolysis bullosa simplex with muscular dystrophy
MONDO:0009182	junctional epidermolysis bullosa Herlitz type
MONDO:0009183	junctional epidermolysis bullosa with pyloric atresia
MONDO:0009184	epidermolysis bullosa with diaphragmatic hernia
MONDO:0009185	amelocerebrohypohidrotic syndrome
MONDO:0009186	epilepsy, photogenic, with spastic diplegia and intellectual disability
MONDO:0009187	celiac disease-epilepsy-cerebral calcification syndrome
MONDO:0009188	epilepsy-telangiectasia syndrome
MONDO:0009189	multiple epiphyseal dysplasia type 4
MONDO:0009190	epiphyseal dysplasia of femoral head, myopia, and deafness
MONDO:0009191	Lowry-Wood syndrome
MONDO:0009192	Wolcott-Rallison syndrome
MONDO:0009194	immunodeficiency 32B
MONDO:0009195	erythema of acral regions
MONDO:0009196	ermine phenotype
MONDO:0009197	transient erythroblastopenia of childhood
MONDO:0009198	congenital lethal erythroderma
MONDO:0009199	ethanolaminosis
MONDO:0009200	eyebrow duplication-syndactyly syndrome
MONDO:0009201	facial abnormalities, kyphoscoliosis, and intellectual disability
MONDO:0009202	Thakker-Donnai syndrome
MONDO:0009203	focal facial dermal dysplasia type III
MONDO:0009204	lethal faciocardiomelic dysplasia
MONDO:0009205	faciocardiorenal syndrome
MONDO:0009206	factor V and factor VIII, combined deficiency of, type 1
MONDO:0009207	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor
MONDO:0009208	faciothoracogenital syndrome
MONDO:0009209	autosomal recessive faciodigitogenital syndrome
MONDO:0009210	congenital factor V deficiency
MONDO:0009211	congenital factor VII deficiency
MONDO:0009212	congenital factor X deficiency
MONDO:0009213	Fanconi anemia complementation group C
MONDO:0009214	Fanconi anemia complementation group D2
MONDO:0009215	Fanconi anemia complementation group A
MONDO:0009216	glycogen storage disease due to GLUT2 deficiency
MONDO:0009217	Fanconi-like syndrome
MONDO:0009218	Farber lipogranulomatosis
MONDO:0009219	fascial dystrophy, congenital
MONDO:0009220	visceral steatosis, congenital
MONDO:0009221	femur-fibula-ulna complex
MONDO:0009222	Gollop-Wolfgang complex
MONDO:0009223	hypogonadotropic hypogonadism 23 with or without anosmia
MONDO:0009224	fetal iodine syndrome
MONDO:0009225	fever, familial lifelong persistent
MONDO:0009226	fibrochondrogenesis 1
MONDO:0009227	myofibromatosis, infantile, 1
MONDO:0009228	gingival fibromatosis-facial dysmorphism syndrome
MONDO:0009229	hyaline fibromatosis syndrome
MONDO:0009230	fibrosclerosis, multifocal
MONDO:0009231	fibular hypoplasia and complex brachydactyly
MONDO:0009232	Fuhrmann syndrome
MONDO:0009233	Fibulo-ulnar hypoplasia-renal anomalies syndrome
MONDO:0009234	congenital high-molecular-weight kininogen deficiency
MONDO:0009235	familial benign flecked retina
MONDO:0009236	Kandori fleck retina
MONDO:0009237	focal epithelial hyperplasia
MONDO:0009238	hereditary folate malabsorption
MONDO:0009239	hypogonadotropic hypogonadism 24 without anosmia
MONDO:0009240	formiminoglutamic aciduria
MONDO:0009241	fountain syndrome
MONDO:0009242	brittle cornea syndrome
MONDO:0009243	Fraser-like syndrome
MONDO:0009244	Freesia Flowers, inability to smell
MONDO:0009246	Friedreich ataxia and congenital glaucoma
MONDO:0009247	frontofacionasal dysplasia
MONDO:0009248	fructose and galactose intolerance
MONDO:0009249	hereditary fructose intolerance
MONDO:0009251	fructose-1,6-bisphosphatase deficiency
MONDO:0009252	essential fructosuria
MONDO:0009253	Fryns syndrome
MONDO:0009254	fucosidosis
MONDO:0009255	galactokinase deficiency
MONDO:0009256	galactorrhea
MONDO:0009257	galactose epimerase deficiency
MONDO:0009258	classic galactosemia
MONDO:0009259	gamma-glutamylcysteine synthetase deficiency
MONDO:0009260	GM1 gangliosidosis type 1
MONDO:0009261	GM1 gangliosidosis type 2
MONDO:0009262	GM1 gangliosidosis type 3
MONDO:0009263	gapo syndrome
MONDO:0009264	gastroschisis
MONDO:0009265	Gaucher disease type I
MONDO:0009266	Gaucher disease type II
MONDO:0009267	Gaucher disease type III
MONDO:0009268	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
MONDO:0009269	geleophysic dysplasia 1
MONDO:0009270	genito-palato-cardiac syndrome
MONDO:0009271	geroderma osteodysplastica
MONDO:0009272	German syndrome
MONDO:0009273	hydatidiform mole, recurrent, 1
MONDO:0009274	ghosal hematodiaphyseal dysplasia
MONDO:0009275	neonatal hemochromatosis
MONDO:0009276	Bernard-Soulier syndrome
MONDO:0009277	glaucoma 3A
MONDO:0009278	hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO:0009279	triple-A syndrome
MONDO:0009280	monosodium glutamate sensitivity
MONDO:0009281	glutaryl-CoA dehydrogenase deficiency
MONDO:0009282	multiple acyl-CoA dehydrogenase deficiency
MONDO:0009283	glutaric acidemia type 3
MONDO:0009284	glutathione synthetase deficiency without 5-oxoprolinuria
MONDO:0009285	gamma-glutamyl transpeptidase deficiency
MONDO:0009286	gluteal muscles, absence of
MONDO:0009287	glycogen storage disease due to glucose-6-phosphatase deficiency type IA
MONDO:0009288	glycogen storage disease Ib
MONDO:0009290	glycogen storage disease II
MONDO:0009291	glycogen storage disease III
MONDO:0009292	glycogen storage disease due to glycogen branching enzyme deficiency
MONDO:0009293	glycogen storage disease V
MONDO:0009294	glycogen storage disease VI
MONDO:0009295	glycogen storage disease VII
MONDO:0009296	glycoprotein storage disease
MONDO:0009297	familial renal glucosuria
MONDO:0009298	GOMBO syndrome
MONDO:0009299	46 XX gonadal dysgenesis
MONDO:0009300	Perrault syndrome 1
MONDO:0009301	46,XY sex reversal 7
MONDO:0009302	XY type gonadal dysgenesis-associated anomalies syndrome
MONDO:0009303	anti-glomerular basement membrane disease
MONDO:0009305	granulocytopenia with immunoglobulin abnormality
MONDO:0009306	combined immunodeficiency with skin granulomas
MONDO:0009307	granulomatous disease with defect in neutrophil chemotaxis
MONDO:0009308	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MONDO:0009309	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
MONDO:0009310	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
MONDO:0009311	grouped pigmentation of the retina
MONDO:0009312	lipodystrophy due to peptidic growth factors deficiency
MONDO:0009313	Grubben-de Cock-Borghgraef syndrome
MONDO:0009315	congenital factor XII deficiency
MONDO:0009316	hair defect-photosensitivity-intellectual disability syndrome
MONDO:0009318	Hallermann-Streiff syndrome
MONDO:0009319	pantothenate kinase-associated neurodegeneration
MONDO:0009320	Hall-Riggs syndrome
MONDO:0009321	hallux varus-preaxial polysyndactyly syndrome
MONDO:0009323	Halothane hepatitis
MONDO:0009324	Hartnup disease
MONDO:0009326	congenital heart block
MONDO:0009327	heart, malformation of
MONDO:0009328	hemangiomatosis, cutaneous, with associated features
MONDO:0009329	pulmonary venoocclusive disease 2
MONDO:0009330	hemangiopericytoma, malignant
MONDO:0009331	isolated hemihyperplasia
MONDO:0009333	mullerian derivatives-lymphangiectasia-polydactyly syndrome
MONDO:0009334	hemolytic anemia with thermal sensitivity of red cells
MONDO:0009335	hemolytic uremic syndrome, atypical, susceptibility to, 1
MONDO:0009336	hemosiderosis, pulmonary, with deficiency of gamma-a globulin
MONDO:0009337	Hennekam lymphangiectasia-lymphedema syndrome 1
MONDO:0009338	hepatic veno-occlusive disease-immunodeficiency syndrome
MONDO:0009339	congenital bile acid synthesis defect 2
MONDO:0009340	non-spherocytic hemolytic anemia due to hexokinase deficiency
MONDO:0009341	Mowat-Wilson syndrome
MONDO:0009342	Hirschsprung disease-deafness-polydactyly syndrome
MONDO:0009343	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
MONDO:0009344	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
MONDO:0009345	histidinemia
MONDO:0009346	histidinuria due to a renal tubular defect
MONDO:0009347	familial lipochrome histiocytosis
MONDO:0009348	classic Hodgkin lymphoma
MONDO:0009349	holoprosencephaly 1
MONDO:0009350	Holzgreve-Wagner-Rehder syndrome
MONDO:0009351	homocarnosinosis
MONDO:0009352	classic homocystinuria
MONDO:0009353	homocystinuria due to methylene tetrahydrofolate reductase deficiency
MONDO:0009354	methylcobalamin deficiency type cblE
MONDO:0009355	Hooft disease
MONDO:0009356	autosomal recessive humeroradial synostosis
MONDO:0009357	humeroradial synostosis with craniofacial anomalies
MONDO:0009358	Hutterite cerebroosteonephrodysplasia syndrome
MONDO:0009359	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
MONDO:0009360	hydrocephalus, nonsyndromic, autosomal recessive 1
MONDO:0009361	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
MONDO:0009362	growth delay-hydrocephaly-lung hypoplasia syndrome
MONDO:0009363	hydrocephaly-tall stature-joint laxity syndrome
MONDO:0009364	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MONDO:0009365	hydrolethalus syndrome 1
MONDO:0009366	normal pressure hydrocephalus
MONDO:0009367	McKusick-Kaufman syndrome
MONDO:0009368	urofacial syndrome type 1
MONDO:0009369	non-immune hydrops fetalis
MONDO:0009370	L-2-hydroxyglutaric aciduria
MONDO:0009371	3-hydroxyisobutyric aciduria
MONDO:0009372	encephalopathy due to hydroxykynureninuria
MONDO:0009373	seizures-intellectual disability due to hydroxylysinuria syndrome
MONDO:0009374	hydroxyprolinemia
MONDO:0009375	hymen, imperforate
MONDO:0009376	carbamoyl phosphate synthetase I deficiency disease
MONDO:0009377	hyperammonemia due to N-acetylglutamate synthase deficiency
MONDO:0009378	hyper-beta-alaninemia
MONDO:0009379	Rotor syndrome
MONDO:0009380	Dubin-Johnson syndrome
MONDO:0009381	hyperbilirubinemia, conjugated, type 3
MONDO:0009382	hyperbilirubinemia, shunt, primary
MONDO:0009383	transient familial neonatal hyperbilirubinemia
MONDO:0009384	Leydig cell hypoplasia, type 1
MONDO:0009385	hyperleucine-Isoleucinemia
MONDO:0009386	hyperlexia
MONDO:0009387	familial lipoprotein lipase deficiency
MONDO:0009388	hyperlysinemia
MONDO:0009389	hyperlysinemia due to defect in lysine transport into mitochondria
MONDO:0009390	hyperlysinuria with hyperammonemia
MONDO:0009391	hypermetabolism due to defect in mitochondria
MONDO:0009392	hyperopia, high
MONDO:0009393	ornithine translocase deficiency
MONDO:0009394	juvenile Paget disease
MONDO:0009395	hyperostosis corticalis generalisata
MONDO:0009396	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
MONDO:0009397	neonatal severe primary hyperparathyroidism
MONDO:0009398	hyperphosphatasia with intellectual disability syndrome 1
MONDO:0009399	hyperphosphatemia, polyuria, and seizures
MONDO:0009400	hyperprolinemia type 1
MONDO:0009401	hyperprolinemia type 2
MONDO:0009402	acrofrontofacionasal dysostosis 2
MONDO:0009403	hypertelorism and tetralogy of fallot
MONDO:0009404	hypertelorism, microtia, facial clefting syndrome
MONDO:0009405	cervical hypertrichosis-peripheral neuropathy syndrome
MONDO:0009406	hypertrichotic osteochondrodysplasia Cantu type
MONDO:0009407	hypertrophic neuropathy and cataract
MONDO:0009408	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
MONDO:0009409	hypervitaminosis a, susceptibility to
MONDO:0009410	Addison disease
MONDO:0009411	autoimmune polyendocrine syndrome type 1
MONDO:0009412	scurvy
MONDO:0009413	immunodeficiency, common variable, 2
MONDO:0009414	glycogen storage disease due to hepatic glycogen synthase deficiency
MONDO:0009415	hypoglycemia, leucine-induced
MONDO:0009416	hypoinsulinemic hypoglycemia and body hemihypertrophy
MONDO:0009417	hypergonadotropic hypogonadism-cataract syndrome
MONDO:0009418	hypogonadism with low-grade mental deficiency and microcephaly
MONDO:0009419	Woodhouse-Sakati syndrome
MONDO:0009420	primary hypergonadotropic hypogonadism-partial alopecia syndrome
MONDO:0009421	hypogonadism, male
MONDO:0009422	hypohidrosis with abnormal palmar dermal Ridges
MONDO:0009423	hypokalemic alkalosis, familial, with specific renal tubulopathy
MONDO:0009424	Bartter disease type 2
MONDO:0009425	hypomandibular faciocranial dysostosis
MONDO:0009426	hypoparathyroidism-retardation-dysmorphism syndrome
MONDO:0009429	hypophosphatemia, renal, with intracerebral calcifications
MONDO:0009430	hypophosphatemic rickets, autosomal recessive, 1
MONDO:0009431	hereditary hypophosphatemic rickets with hypercalciuria
MONDO:0009433	hypoplastic left heart syndrome 1
MONDO:0009434	hypoproteinemia, hypercatabolic
MONDO:0009435	hypospadias-intellectual disability, Goldblatt type syndrome
MONDO:0009436	congenital hypothalamic hamartoma syndrome
MONDO:0009437	Bamforth-Lazarus syndrome
MONDO:0009438	hypouricemia, hypercalcinuria, and decreased bone density
MONDO:0009439	autosomal recessive congenital ichthyosis 2
MONDO:0009440	ichthyosiform erythroderma, corneal involvement, and deafness
MONDO:0009441	autosomal recessive congenital ichthyosis 1
MONDO:0009443	autosomal recessive congenital ichthyosis 4B
MONDO:0009444	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
MONDO:0009445	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
MONDO:0009446	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
MONDO:0009447	ichthyosis, split hairs, and amino aciduria
MONDO:0009448	iminoglycinuria
MONDO:0009449	ciliary dyskinesia with defective radial spokes
MONDO:0009450	ciliary dyskinesia with excessively long cilia
MONDO:0009451	Nezelof syndrome
MONDO:0009452	Vici syndrome
MONDO:0009453	immune deficiency disease
MONDO:0009454	immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO:0009455	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes
MONDO:0009456	Immunoerythromyeloid hypoplasia
MONDO:0009457	immunoglobulin d level in plasma, low
MONDO:0009458	Schimke immuno-osseous dysplasia
MONDO:0009459	channelopathy-associated congenital insensitivity to pain, autosomal recessive
MONDO:0009460	indolylacroyl glycinuria with intellectual disability
MONDO:0009461	male infertility due to large-headed multiflagellar polyploid spermatozoa
MONDO:0009462	inosine phosphorylase deficiency, immune defect due to
MONDO:0009463	internal carotid arteries, hypoplasia of
MONDO:0009464	immunodeficiency with defective T-cell response to interleukin 1
MONDO:0009465	multiple intestinal atresia
MONDO:0009466	neuronal intestinal pseudoobstruction
MONDO:0009467	natal teeth-intestinal pseudoobstruction-patent ductus syndrome
MONDO:0009468	pseudotumor cerebri
MONDO:0009469	benign recurrent intrahepatic cholestasis type 1
MONDO:0009470	Baraitser-Winter syndrome 1
MONDO:0009471	intrinsic factor and r binder, combined congenital deficiency of
MONDO:0009472	acetylation, slow
MONDO:0009473	isotretinoin-like syndrome
MONDO:0009474	isovaleric acid, inability to smell
MONDO:0009475	isovaleric acidemia
MONDO:0009476	atresia of small intestine
MONDO:0009477	Stromme syndrome
MONDO:0009478	combined immunodeficiency due to DOCK8 deficiency
MONDO:0009479	Johanson-Blizzard syndrome
MONDO:0009480	Joubert syndrome with oculorenal defect
MONDO:0009481	Jumping Frenchmen of Maine
MONDO:0009482	hypogonadotropic hypogonadism 3 with or without anosmia
MONDO:0009483	kapur-Toriello syndrome
MONDO:0009484	primary ciliary dyskinesia 1
MONDO:0009485	oculocerebrofacial syndrome, Kaufman type
MONDO:0009486	autosomal recessive Kenny-Caffey syndrome
MONDO:0009488	keratoconus posticus circumscriptus
MONDO:0009489	hereditary palmoplantar keratoderma, Gamborg-Nielsen type
MONDO:0009490	Papillon-Lefevre disease
MONDO:0009491	Haim-Munk syndrome
MONDO:0009492	succinyl-CoA:3-ketoacid CoA transferase deficiency
MONDO:0009493	Richards-Rundle syndrome
MONDO:0009495	Keutel syndrome
MONDO:0009496	Kniest-like dysplasia with pursed lips and ectopia lentis
MONDO:0009497	Kifafa seizure disorder
MONDO:0009498	lethal Kniest-like dysplasia
MONDO:0009499	Krabbe disease
MONDO:0009501	metabolic myopathy due to lactate transporter defect
MONDO:0009502	pyruvate dehydrogenase E2 deficiency
MONDO:0009503	pyruvate dehydrogenase E3-binding protein deficiency
MONDO:0009504	mitochondrial DNA depletion syndrome 9
MONDO:0009505	lactic aciduria due to D-lactic acid
MONDO:0009507	Lambert syndrome
MONDO:0009508	Lambotte syndrome
MONDO:0009509	Landau-Kleffner syndrome
MONDO:0009511	Larsen-like syndrome, B3GAT3 type
MONDO:0009512	lethal Larsen-like syndrome
MONDO:0009513	laryngo-onycho-cutaneous syndrome
MONDO:0009514	Laurence-Moon syndrome
MONDO:0009515	Norum disease
MONDO:0009516	absence deformity of leg-cataract syndrome
MONDO:0009517	Donohue syndrome
MONDO:0009519	letterer-Siwe disease
MONDO:0009520	3-hydroxy-3-methylglutaric aciduria
MONDO:0009521	leukemia, acute myelocytic, with polyposis coli and colon cancer
MONDO:0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
MONDO:0009523	Lichtenstein syndrome
MONDO:0009524	intellectual disability-spasticity-ectrodactyly syndrome
MONDO:0009525	split hand-foot malformation 3
MONDO:0009526	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
MONDO:0009527	lipase deficiency, combined
MONDO:0009528	chylomicron retention disease
MONDO:0009529	pyruvate dehydrogenase E3 deficiency
MONDO:0009530	lipoid proteinosis
MONDO:0009532	Miller-Dieker lissencephaly syndrome
MONDO:0009533	Dahlberg-Borer-Newcomer syndrome
MONDO:0009534	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
MONDO:0009536	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
MONDO:0009537	lymphoid interstitial pneumonia
MONDO:0009538	lymphoid system deterioration, progressive
MONDO:0009539	lymphoblastic leukemia, acute, with lymphomatous features
MONDO:0009540	chronic mucocutaneous candidiasis due to lymphokine deficiency
MONDO:0009541	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
MONDO:0009542	lysine malabsorption syndrome
MONDO:0009543	prominent glabella-microcephaly-hypogenitalism syndrome
MONDO:0009544	macrocephaly/megalencephaly syndrome, autosomal recessive
MONDO:0009545	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
MONDO:0009546	macrosomia adiposa congenita
MONDO:0009547	macrosomia-microphthalmia-cleft palate syndrome
MONDO:0009548	renal hypomagnesemia 5 with ocular involvement
MONDO:0009549	severe early-childhood-onset retinal dystrophy
MONDO:0009550	renal hypomagnesemia 3
MONDO:0009551	magnesium, elevated red cell
MONDO:0009552	mal de Meleda
MONDO:0009554	3MC syndrome 3
MONDO:0009556	malonic aciduria
MONDO:0009557	mandibuloacral dysplasia with type A lipodystrophy
MONDO:0009558	Treacher Collins syndrome 3
MONDO:0009559	mandibulofacial dysostosis with mental deficiency
MONDO:0009560	oculotrichoanal syndrome
MONDO:0009561	alpha-mannosidosis
MONDO:0009562	beta-mannosidosis
MONDO:0009563	maple syrup urine disease
MONDO:0009564	Marden-Walker syndrome
MONDO:0009565	microcephaly-glomerulonephritis-marfanoid habitus syndrome
MONDO:0009566	marfanoid habitus-autosomal recessive intellectual disability syndrome
MONDO:0009567	Marinesco-Sjogren syndrome
MONDO:0009568	mast syndrome
MONDO:0009569	Hennekam-Beemer syndrome
MONDO:0009570	McDonough syndrome
MONDO:0009571	Meckel syndrome, type 1
MONDO:0009572	autosomal recessive familial Mediterranean fever
MONDO:0009573	megaepiphyseal dwarfism
MONDO:0009574	megalencephaly with dysmyelination
MONDO:0009575	thiamine-responsive megaloblastic anemia syndrome
MONDO:0009576	megalocornea
MONDO:0009577	megalocornea-intellectual disability syndrome
MONDO:0009578	neurocutaneous melanocytosis
MONDO:0009579	Frank-Ter Haar syndrome
MONDO:0009580	intellectual disability, autosomal recessive 1
MONDO:0009581	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
MONDO:0009582	Mietens syndrome
MONDO:0009583	blepharophimosis - intellectual disability syndrome, Ohdo type
MONDO:0009584	intellectual disability, Buenos-Aires type
MONDO:0009585	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
MONDO:0009586	mesangial sclerosis, diffuse renal, with ocular abnormalities
MONDO:0009587	mesoaxial hexadactyly and cardiac malformation
MONDO:0009588	Langer mesomelic dysplasia
MONDO:0009589	mesomelic dwarfism-cleft palate-camptodactyly syndrome
MONDO:0009590	metachromatic leukodystrophy due to saposin b deficiency
MONDO:0009591	metachromatic leukodystrophy, juvenile form
MONDO:0009592	metaphyseal acroscyphodysplasia
MONDO:0009593	spondylometaphyseal dysplasia, Sedaghatian type
MONDO:0009594	metaphyseal chondrodysplasia, Kaitila type
MONDO:0009595	cartilage-hair hypoplasia
MONDO:0009596	metaphyseal chondrodysplasia, Pena type
MONDO:0009597	metaphyseal chondrodysplasia, Spahr type
MONDO:0009598	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
MONDO:0009599	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MONDO:0009600	metaphyseal dysplasia, anetoderma, and optic atrophy
MONDO:0009601	metaphyseal dysplasia without hypotrichosis
MONDO:0009602	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
MONDO:0009603	3-hydroxyisobutyryl-CoA hydrolase deficiency
MONDO:0009604	methemoglobin reductase deficiency
MONDO:0009605	methemoglobinemia type 4
MONDO:0009606	methemoglobinemia due to deficiency of methemoglobin reductase
MONDO:0009607	methionine adenosyltransferase deficiency
MONDO:0009608	methionine malabsorption syndrome
MONDO:0009609	methylcobalamin deficiency type cblG
MONDO:0009610	3-methylglutaconic aciduria type 1
MONDO:0009611	3-methylglutaconic aciduria type 4
MONDO:0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO:0009613	vitamin B12-responsive methylmalonic acidemia type cblA
MONDO:0009614	vitamin B12-responsive methylmalonic acidemia type cblB
MONDO:0009615	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MONDO:0009616	microcephalic primordial dwarfism, Toriello type
MONDO:0009617	microcephaly 1, primary, autosomal recessive
MONDO:0009618	microcephaly-cardiomyopathy syndrome
MONDO:0009619	microcephaly-micromelia syndrome
MONDO:0009620	Say-Barber-Miller syndrome
MONDO:0009621	microcephaly-cervical spine fusion anomalies syndrome
MONDO:0009622	Jawad syndrome
MONDO:0009623	Nijmegen breakage syndrome
MONDO:0009624	microcephaly and chorioretinopathy 1
MONDO:0009625	diencephalic-mesencephalic junction dysplasia syndrome 1
MONDO:0009626	pseudo-TORCH syndrome
MONDO:0009627	Galloway-Mowat syndrome
MONDO:0009628	microcolon
MONDO:0009629	Desbuquois dysplasia 1
MONDO:0009630	microphthalmia, isolated, with coloboma 4
MONDO:0009631	isolated microphthalmia 1
MONDO:0009632	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies
MONDO:0009633	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
MONDO:0009634	microtia with meatal atresia and conductive deafness
MONDO:0009635	microvillus inclusion disease
MONDO:0009636	mitochondrial DNA depletion syndrome 3
MONDO:0009638	mitochondrial myopathy with a defect in mitochondrial-protein transport
MONDO:0009642	orofaciodigital syndrome type II
MONDO:0009643	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MONDO:0009644	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
MONDO:0009645	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
MONDO:0009646	Monosomy 7 myelodysplasia and leukemia syndrome 1
MONDO:0009647	Morquio syndrome C
MONDO:0009648	peripheral motor neuropathy-dysautonomia syndrome
MONDO:0009649	moyamoya disease 1
MONDO:0009650	mucolipidosis type II
MONDO:0009652	mucolipidosis type III gamma
MONDO:0009653	mucolipidosis type IV
MONDO:0009654	mucopolysaccharidoses, unclassified types
MONDO:0009655	Sanfilippo syndrome type A
MONDO:0009656	Sanfilippo syndrome type B
MONDO:0009657	Sanfilippo syndrome type C
MONDO:0009658	Sanfilippo syndrome type D
MONDO:0009659	mucopolysaccharidosis type 4A
MONDO:0009660	mucopolysaccharidosis type 4B
MONDO:0009661	mucopolysaccharidosis type 6
MONDO:0009662	mucopolysaccharidosis type 7
MONDO:0009663	mucus inspissation of respiratory tract
MONDO:0009664	mulibrey nanism
MONDO:0009665	biotinidase deficiency
MONDO:0009666	holocarboxylase synthetase deficiency
MONDO:0009667	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MONDO:0009668	lethal multiple pterygium syndrome
MONDO:0009669	spinal muscular atrophy, type 1
MONDO:0009670	lethal congenital contracture syndrome 1
MONDO:0009671	intellectual disability-myopathy-short stature-endocrine defect syndrome
MONDO:0009672	spinal muscular atrophy, type III
MONDO:0009673	spinal muscular atrophy, type II
MONDO:0009674	muscular dystrophy, adult-onset, with leukoencephalopathy
MONDO:0009675	autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0009676	autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0009677	autosomal recessive limb-girdle muscular dystrophy type 2C
MONDO:0009678	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
MONDO:0009679	arthrogryposis due to muscular dystrophy
MONDO:0009680	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
MONDO:0009681	Ullrich congenital muscular dystrophy 1
MONDO:0009682	muscular dystrophy, congenital, with rapid progression
MONDO:0009683	autosomal recessive limb-girdle muscular dystrophy type 2H
MONDO:0009684	muscular hypertonia, lethal
MONDO:0009685	Miyoshi myopathy
MONDO:0009686	musk, inability to smell
MONDO:0009687	myasthenia, congenital, refractory to acetylcholinesterase inhibitors
MONDO:0009688	myasthenia gravis
MONDO:0009689	congenital myasthenic syndrome 6
MONDO:0009690	congenital myasthenic syndrome 10
MONDO:0009691	mycosis fungoides
MONDO:0009692	primary myelofibrosis
MONDO:0009693	plasma cell myeloma
MONDO:0009694	myeloperoxidase deficiency
MONDO:0009695	myeloproliferative disease, autosomal recessive
MONDO:0009696	juvenile myoclonic epilepsy
MONDO:0009697	Lafora disease
MONDO:0009698	Unverricht-Lundborg syndrome
MONDO:0009699	action myoclonus-renal failure syndrome
MONDO:0009700	Carey-Fineman-Ziter syndrome
MONDO:0009701	myopathy, granulovacuolar lobular, with electrical myotonia
MONDO:0009702	myopathy due to malate-aspartate shuttle defect
MONDO:0009703	myopathy with abnormal lipid metabolism
MONDO:0009704	carnitine palmitoyl transferase II deficiency, myopathic form
MONDO:0009705	Carnitine palmitoyltransferase 1A deficiency
MONDO:0009706	hereditary myopathy with lactic acidosis due to ISCU deficiency
MONDO:0009707	myopathy with giant abnormal mitochondria
MONDO:0009708	myopathy, myosin storage, autosomal recessive
MONDO:0009709	myopathy, centronuclear, 2
MONDO:0009710	myotonia congenita
MONDO:0009711	congenital fiber-type disproportion myopathy
MONDO:0009712	congenital multicore myopathy with external ophthalmoplegia
MONDO:0009713	myopia 18, autosomal recessive
MONDO:0009714	myosclerosis
MONDO:0009715	myotonia congenita, autosomal recessive
MONDO:0009716	Richieri Costa-da Silva syndrome
MONDO:0009717	Schwartz-Jampel syndrome
MONDO:0009718	myxedema
MONDO:0009719	familial atrial myxoma
MONDO:0009720	Keipert syndrome
MONDO:0009721	Nathalie syndrome
MONDO:0009722	Bailey-Bloch congenital myopathy
MONDO:0009723	Leigh syndrome
MONDO:0009724	nail-patella-like renal disease
MONDO:0009725	nemaline myopathy 2
MONDO:0009727	atelosteogenesis type II
MONDO:0009728	nephronophthisis 1
MONDO:0009729	nephropathy - deafness - hyperparathyroidism syndrome
MONDO:0009731	nephrosis-deafness-urinary tract-digital malformations syndrome
MONDO:0009732	congenital nephrotic syndrome, Finnish type
MONDO:0009733	nephrotic syndrome, type 4
MONDO:0009734	hyperinsulinemic hypoglycemia, familial, 1
MONDO:0009735	Netherton syndrome
MONDO:0009736	Neu-Laxova syndrome 1
MONDO:0009737	galactosialidosis
MONDO:0009738	sialidosis type 2
MONDO:0009740	neurofaciodigitorenal syndrome
MONDO:0009742	neuroectodermal melanolysosomal disease
MONDO:0009743	neurologic disease, infantile multisystem, with osseous fragility
MONDO:0009744	neuronal ceroid lipofuscinosis 1
MONDO:0009745	neuronal ceroid lipofuscinosis 5
MONDO:0009746	hereditary sensory and autonomic neuropathy type 4
MONDO:0009747	Navajo neurohepatopathy
MONDO:0009748	hereditary sensory and autonomic neuropathy with spastic paraplegia
MONDO:0009749	giant axonal neuropathy 1
MONDO:0009751	neuropathy, hereditary sensory, atypical
MONDO:0009752	neuropathy, painful
MONDO:0009754	neutropenia, lethal congenital, with eosinophilia
MONDO:0009755	neutrophil actin dysfunction
MONDO:0009756	Niemann-Pick disease type A
MONDO:0009757	Niemann-Pick disease, type C1
MONDO:0009758	congenital stationary night blindness 1B
MONDO:0009759	mosaic variegated aneuploidy syndrome 1
MONDO:0009760	Norman-Roberts syndrome
MONDO:0009761	cystic hygroma
MONDO:0009762	nystagmus, congenital, autosomal recessive
MONDO:0009763	obesity-hypoventilation syndrome
MONDO:0009764	ocular motor apraxia, Cogan type
MONDO:0009765	ocular myopathy with curare sensitivity
MONDO:0009766	oculocerebral hypopigmentation syndrome of Preus
MONDO:0009767	oculocerebral hypopigmentation syndrome, Cross type
MONDO:0009768	oculodentodigital dysplasia, autosomal recessive
MONDO:0009769	oculo-palato-cerebral syndrome
MONDO:0009770	3MC syndrome 1
MONDO:0009771	oculotrichodysplasia
MONDO:0009772	oculorenocerebellar syndrome
MONDO:0009773	odonto-onycho-dermal dysplasia
MONDO:0009774	cloacal exstrophy
MONDO:0009775	Oguchi disease-1
MONDO:0009776	spermatogenic failure 1
MONDO:0009777	Oliver syndrome
MONDO:0009778	olivopontocerebellar atrophy II, autosomal recessive
MONDO:0009779	autosomal recessive omodysplasia
MONDO:0009780	lethal omphalocele-cleft palate syndrome
MONDO:0009781	Onychotrichodysplasia and neutropenia
MONDO:0009782	ophthalmoplegia totalis with ptosis and miosis
MONDO:0009783	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
MONDO:0009784	ophthalmoplegic neuromuscular disorder with abnormal mitochondria
MONDO:0009785	opsismodysplasia
MONDO:0009786	optic atrophy 6
MONDO:0009787	3-methylglutaconic aciduria type 3
MONDO:0009788	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
MONDO:0009790	Opticocochleodentate degeneration
MONDO:0009791	oral sensibility, disturbance of
MONDO:0009792	ichthyosis-oral and digital anomalies syndrome
MONDO:0009793	orofaciodigital syndrome III
MONDO:0009794	orofaciodigital syndrome IV
MONDO:0009795	orofaciodigital syndrome IX
MONDO:0009796	ornithine aminotransferase deficiency
MONDO:0009797	orotic aciduria
MONDO:0009798	intellectual disability-cataracts-calcified pinnae-myopathy syndrome
MONDO:0009799	pachydermoperiostosis
MONDO:0009800	Blount disease, adolescent
MONDO:0009801	familial osteodysplasia, Anderson type
MONDO:0009802	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
MONDO:0009803	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
MONDO:0009804	osteogenesis imperfecta type 3
MONDO:0009805	osteogenesis imperfecta type 9
MONDO:0009806	Bruck syndrome 1
MONDO:0009808	osteoid osteoma
MONDO:0009809	multicentric osteolysis, nodulosis, and arthropathy
MONDO:0009810	autosomal recessive distal osteolysis syndrome
MONDO:0009811	osteoma of middle ear
MONDO:0009812	osteomalacia, sclerosing, with cerebral calcification
MONDO:0009813	chronic recurrent multifocal osteomyelitis
MONDO:0009814	osteopenia-intellectual disability-sparse hair syndrome
MONDO:0009815	autosomal recessive osteopetrosis 1
MONDO:0009816	autosomal recessive osteopetrosis 2
MONDO:0009817	autosomal recessive osteopetrosis 5
MONDO:0009818	autosomal recessive osteopetrosis 3
MONDO:0009820	osteoporosis-pseudoglioma syndrome
MONDO:0009821	lethal osteosclerotic bone dysplasia
MONDO:0009822	otoonychoperoneal syndrome
MONDO:0009823	primary hyperoxaluria type 1
MONDO:0009824	primary hyperoxaluria type 2
MONDO:0009825	5-oxoprolinase deficiency
MONDO:0009826	PA polymorphism of alpha-2-globulin
MONDO:0009828	palant cleft palate syndrome
MONDO:0009830	parkinsonian-pyramidal syndrome
MONDO:0009833	Shwachman-Diamond syndrome
MONDO:0009835	subacute sclerosing panencephalitis
MONDO:0009836	pancreatitis, sclerosing cholangitis, and sicca complex
MONDO:0009837	choroid plexus papilloma
MONDO:0009838	Parana hard-skin syndrome
MONDO:0009839	progressive supranuclear palsy-parkinsonism syndrome
MONDO:0009841	PEHO syndrome
MONDO:0009842	Pelger-Huet-like anomaly and episodic fever with abdominal pain
MONDO:0009843	hypomyelinating leukodystrophy 3
MONDO:0009844	pellagra-like syndrome
MONDO:0009845	pelviscapular dysplasia
MONDO:0009846	pentosuria
MONDO:0009847	pericardial effusion, chronic
MONDO:0009848	dissecting cellulitis of the scalp
MONDO:0009849	hyperimmunoglobulinemia D with periodic fever
MONDO:0009850	periodontitis, chronic, adult
MONDO:0009851	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
MONDO:0009852	congenital intrinsic factor deficiency
MONDO:0009854	peroneus tertius muscle, absence of
MONDO:0009855	d-bifunctional protein deficiency
MONDO:0009856	Peters plus syndrome
MONDO:0009857	persistent Mullerian duct syndrome
MONDO:0009858	Pfeiffer-Palm-Teller syndrome
MONDO:0009859	PHAVER syndrome
MONDO:0009860	phenformin 4-hydroxylation
MONDO:0009861	phenylketonuria
MONDO:0009862	dihydropteridine reductase deficiency
MONDO:0009863	BH4-deficient hyperphenylalaninemia A
MONDO:0009864	phosphoenolpyruvate carboxykinase deficiency, mitochondrial
MONDO:0009865	glycogen storage disease due to phosphoglycerate mutase deficiency
MONDO:0009866	phosphoenolpyruvate carboxykinase deficiency, cytosolic
MONDO:0009867	lethal congenital glycogen storage disease of heart
MONDO:0009868	glycogen storage disease IXb
MONDO:0009869	isolated Pierre-Robin syndrome
MONDO:0009870	pili torti
MONDO:0009871	pili torti-developmental delay-neurological abnormalities syndrome
MONDO:0009872	Bjornstad syndrome
MONDO:0009873	pilodental dysplasia-refractive errors syndrome
MONDO:0009874	Rabson-Mendenhall syndrome
MONDO:0009875	achromatopsia 3
MONDO:0009876	isolated growth hormone deficiency type IA
MONDO:0009877	Laron syndrome
MONDO:0009878	pituitary hormone deficiency, combined, 2
MONDO:0009879	short stature due to growth hormone qualitative anomaly
MONDO:0009880	short stature-pituitary and cerebellar defects-small sella turcica syndrome
MONDO:0009881	pituitary dwarfism with large sella turcica
MONDO:0009882	plasma clot retraction factor, deficiency of
MONDO:0009883	alpha-2-plasmin inhibitor deficiency
MONDO:0009884	platelet prostacyclin receptor defect
MONDO:0009885	Scott syndrome
MONDO:0009886	pleoconial myopathy with salt craving
MONDO:0009887	desquamative interstitial pneumonia
MONDO:0009888	polycystic kidney, cataract, and congenital blindness
MONDO:0009889	autosomal recessive polycystic kidney disease
MONDO:0009890	Gillessen-Kaesbach-Nishimura syndrome
MONDO:0009891	acquired polycythemia vera
MONDO:0009892	Chuvash polycythemia
MONDO:0009893	polydactyly, postaxial, type A5
MONDO:0009894	short-rib thoracic dysplasia 6 with or without polydactyly
MONDO:0009895	postaxial polydactyly-dental and vertebral anomalies syndrome
MONDO:0009896	polymyoclonus, infantile
MONDO:0009897	adult polyglucosan body disease
MONDO:0009898	polysaccharide, storage of unusual
MONDO:0009899	polyhydramnios, chronic idiopathic
MONDO:0009900	polysyndactyly-cardiac malformation syndrome
MONDO:0009901	Bartsocas-Papas syndrome
MONDO:0009902	cutaneous porphyria
MONDO:0009903	postaxial acrofacial dysostosis
MONDO:0009904	Gitelman syndrome
MONDO:0009905	urban-Rogers-Meyer syndrome
MONDO:0009906	prenatal bowing
MONDO:0009907	Prepapillary vascular loops
MONDO:0009908	pterin-4 alpha-carbinolamine dehydratase 1 deficiency
MONDO:0009909	progesterone resistance
MONDO:0009910	Wiedemann-Rautenstrauch syndrome
MONDO:0009911	prolactin deficiency, isolated
MONDO:0009912	prolactin deficiency with obesity and enlarged testes
MONDO:0009913	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness
MONDO:0009914	pseudodiastrophic dysplasia
MONDO:0009915	46,XX disorder of sex development-skeletal anomalies syndrome
MONDO:0009916	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0009917	autosomal recessive pseudohypoaldosteronism type 1
MONDO:0009918	fundus dystrophy, pseudoinflammatory, recessive form
MONDO:0009919	peroxisomal acyl-CoA oxidase deficiency
MONDO:0009920	Acrootoocular syndrome
MONDO:0009921	holoprosencephaly-postaxial polydactyly syndrome
MONDO:0009922	Pseudouridinuria and mental defect
MONDO:0009923	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
MONDO:0009924	vitamin D-dependent rickets, type 1
MONDO:0009925	autosomal recessive inherited pseudoxanthoma elasticum
MONDO:0009926	autosomal recessive multiple pterygium syndrome
MONDO:0009927	3MC syndrome 2
MONDO:0009928	pulmonary alveolar microlithiasis
MONDO:0009929	neonatal acute respiratory distress due to SP-B deficiency
MONDO:0009930	pulmonary arteriovenous malformation
MONDO:0009931	pulmonary atresia-intact ventricular septum syndrome
MONDO:0009932	pulmonary bullae causing pneumothorax
MONDO:0009933	congenital pulmonary lymphangiectasia
MONDO:0009934	alveolar capillary dysplasia with misalignment of pulmonary veins
MONDO:0009935	pulmonary hypertension, primary, autosomal recessive
MONDO:0009936	familial primary pulmonary hypoplasia
MONDO:0009938	pulmonic stenosis
MONDO:0009940	pycnodysostosis
MONDO:0009941	Pygmy
MONDO:0009942	pyknoachondrogenesis
MONDO:0009943	Pyle disease
MONDO:0009944	pyloric atresia
MONDO:0009945	pyridoxine-dependent epilepsy
MONDO:0009946	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
MONDO:0009947	glutathione synthetase deficiency with 5-oxoprolinuria
MONDO:0009948	pyropoikilocytosis, hereditary
MONDO:0009949	pyruvate carboxylase deficiency disease
MONDO:0009950	pyruvate kinase deficiency of red cells
MONDO:0009951	radiculoneuropathy, fatal neonatal
MONDO:0009952	radioulnar synostosis-developmental delay-hypotonia syndrome
MONDO:0009953	leukocyte adhesion deficiency type II
MONDO:0009954	Ramon syndrome
MONDO:0009955	rapadilino syndrome
MONDO:0009956	red skin pigment anomaly of new guinea
MONDO:0009957	Reese retinal dysplasia
MONDO:0009958	adult Refsum disease
MONDO:0009959	peroxisome biogenesis disorder type 3B
MONDO:0009960	inflammatory bowel disease 1
MONDO:0009961	renal and mullerian duct hypoplasia
MONDO:0009962	Senior-Loken syndrome 1
MONDO:0009963	Ulbright-Hodes syndrome
MONDO:0009964	short-rib thoracic dysplasia 9 with or without polydactyly
MONDO:0009965	Perlman syndrome
MONDO:0009966	NPHP3-related Meckel-like syndrome
MONDO:0009967	renal tubular acidosis 3
MONDO:0009968	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
MONDO:0009969	renal-genital-middle ear anomalies
MONDO:0009970	renal tubular dysgenesis of genetic origin
MONDO:0009971	newborn respiratory distress syndrome
MONDO:0009972	respiratory underresponsiveness to hypoxia and hypercapnia
MONDO:0009973	reticular dysgenesis
MONDO:0009974	familial hemophagocytic lymphohistiocytosis type 1
MONDO:0009975	reticulum cell sarcoma
MONDO:0009976	retinal degeneration and epilepsy
MONDO:0009977	Knobloch syndrome
MONDO:0009978	retinal degeneration-nanophthalmos-glaucoma syndrome
MONDO:0009979	reticular dystrophy of the retinal pigment epithelium
MONDO:0009980	retinal telangiectasia and hypogammaglobulinemia
MONDO:0009982	retinitis pigmentosa inversa with deafness
MONDO:0009983	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
MONDO:0009984	late-adult onset retinitis pigmentosa
MONDO:0009985	retinohepatoendocrinologic syndrome
MONDO:0009986	retinopathy, pigmentary, and intellectual disability
MONDO:0009987	autosomal recessive pericentral pigmentary retinopathy
MONDO:0009988	retinoschisis of fovea
MONDO:0009990	Revesz syndrome
MONDO:0009992	myoglobinuria, acute recurrent, autosomal recessive
MONDO:0009993	embryonal rhabdomyosarcoma
MONDO:0009994	alveolar rhabdomyosarcoma
MONDO:0009996	rhizomelic syndrome, Urbach type
MONDO:0009997	Roberts syndrome
MONDO:0009998	Richieri Costa-Pereira syndrome
MONDO:0009999	autosomal recessive Robinow syndrome
MONDO:0010001	ectodermal dysplasia-blindness syndrome
MONDO:0010002	Rothmund-Thomson syndrome
MONDO:0010003	Rowley-Rosenberg syndrome
MONDO:0010004	EEC syndrome
MONDO:0010005	saccharopinuria
MONDO:0010006	Sandhoff disease
MONDO:0010007	microbrachycephaly-ptosis-cleft lip syndrome
MONDO:0010008	sarcosinemia
MONDO:0010010	Schinzel-Giedion syndrome
MONDO:0010011	schizencephaly
MONDO:0010012	autoimmune polyendocrinopathy type 2
MONDO:0010013	schneckenbecken dysplasia
MONDO:0010014	craniometadiaphyseal dysplasia, wormian bone type
MONDO:0010015	anterior segment dysgenesis 7
MONDO:0010016	sclerosteosis 1
MONDO:0010017	sea-blue histiocyte syndrome
MONDO:0010018	second metatarsal-metacarpal syndrome
MONDO:0010019	secretory component deficiency
MONDO:0010020	congenital generalized lipodystrophy type 2
MONDO:0010021	seizures, benign familial neonatal, autosomal recessive
MONDO:0010022	senile plaque formation
MONDO:0010023	combined immunodeficiency due to ZAP70 deficiency
MONDO:0010024	Beemer-Langer syndrome
MONDO:0010025	short stature-obesity syndrome
MONDO:0010026	SHORT syndrome
MONDO:0010027	free sialic acid storage disease, infantile form
MONDO:0010028	sialuria
MONDO:0010029	situs inversus
MONDO:0010030	Sjogren syndrome
MONDO:0010031	Sjogren-Larsson syndrome
MONDO:0010032	Sjogren-Larsson-like ichthyosis without CNS or eye involvement
MONDO:0010034	anosmia for butyl mercaptan
MONDO:0010035	Smith-Lemli-Opitz syndrome
MONDO:0010036	congenital secretory sodium diarrhea 3
MONDO:0010037	sodium-potassium-ATPase activity of red cell
MONDO:0010038	growth delay due to insulin-like growth factor I resistance
MONDO:0010039	congenital heart defect-round face-developmental delay syndrome
MONDO:0010040	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
MONDO:0010041	Charlevoix-Saguenay spastic ataxia
MONDO:0010042	spastic diplegia and intellectual disability
MONDO:0010043	hereditary spastic paraplegia 17
MONDO:0010044	hereditary spastic paraplegia 15
MONDO:0010046	hereditary spastic paraplegia 23
MONDO:0010047	hereditary spastic paraplegia 5A
MONDO:0010049	spastic paraplegia-glaucoma-intellectual disability syndrome
MONDO:0010050	spastic pseudosclerosis
MONDO:0010051	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
MONDO:0010052	spermatogenic failure 4
MONDO:0010053	hereditary spherocytosis type 3
MONDO:0010054	spinal muscular atrophy with intellectual disability
MONDO:0010055	spinal muscular atrophy with microcephaly and mental subnormality
MONDO:0010056	spinal muscular atrophy, type IV
MONDO:0010057	spinal muscular atrophy, Ryukyuan type
MONDO:0010058	scapuloperoneal spinal muscular atrophy, autosomal recessive
MONDO:0010060	infantile onset spinocerebellar ataxia
MONDO:0010061	autosomal recessive cerebellar ataxia-blindness-deafness syndrome
MONDO:0010062	spinocerebellar ataxia-dysmorphism syndrome
MONDO:0010063	corneal-cerebellar syndrome
MONDO:0010064	spastic ataxia-corneal dystrophy syndrome
MONDO:0010065	spinocerebellar degeneration with slow eye movements
MONDO:0010066	familial isolated congenital asplenia
MONDO:0010067	splenoportal vascular anomalies
MONDO:0010068	spondyloepimetaphyseal dysplasia, sponastrime type
MONDO:0010069	spondylocostal dysostosis-anal and genitourinary malformations syndrome
MONDO:0010070	brachyolmia type 1, Hobaek type
MONDO:0010072	spondyloepiphyseal dysplasia tarda, autosomal recessive
MONDO:0010073	spondyloepiphyseal dysplasia tarda, Kohn type
MONDO:0010074	brachyolmia type 1, toledo type
MONDO:0010075	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MONDO:0010076	spondyloepimetaphyseal dysplasia, Irapa type
MONDO:0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MONDO:0010078	spondyloperipheral dysplasia-short ulna syndrome
MONDO:0010079	Canavan disease
MONDO:0010080	familial infantile bilateral striatal necrosis
MONDO:0010081	subaortic stenosis, membranous
MONDO:0010082	subaortic stenosis-short stature syndrome
MONDO:0010083	succinic semialdehyde dehydrogenase deficiency
MONDO:0010084	sucrosuria, hiatus hernia and intellectual disability
MONDO:0010087	Sugarman brachydactyly
MONDO:0010088	mucosulfatidosis
MONDO:0010089	isolated sulfite oxidase deficiency
MONDO:0010090	Summitt syndrome
MONDO:0010091	Cold-induced sweating syndrome 1
MONDO:0010092	Filippi syndrome
MONDO:0010093	syndesmodysplasic dwarfism
MONDO:0010094	spondylocarpotarsal synostosis syndrome
MONDO:0010095	ataxia-tapetoretinal degeneration syndrome
MONDO:0010096	tardive dyskinesia
MONDO:0010097	Tatsumi factor deficiency
MONDO:0010098	taurodontism
MONDO:0010099	Tay-Sachs disease AB variant
MONDO:0010100	Tay-Sachs disease
MONDO:0010101	Teebi-Shaltout syndrome
MONDO:0010102	taurodontia-absent teeth-sparse hair syndrome
MONDO:0010103	teeth, fused
MONDO:0010104	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
MONDO:0010105	teratoma, pineal
MONDO:0010106	testes, rudimentary
MONDO:0010107	testicular regression syndrome
MONDO:0010108	testicular germ cell tumor
MONDO:0010109	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
MONDO:0010110	tetraamelia-multiple malformations syndrome
MONDO:0010111	odontotrichomelic syndrome
MONDO:0010114	thanatophoric dysplasia, Glasgow variant
MONDO:0010115	thoracic dysplasia-hydrocephalus syndrome
MONDO:0010116	thoracomelic dysplasia
MONDO:0010117	3M syndrome 1
MONDO:0010118	Threoninemia
MONDO:0010120	thrombocytopenia 3
MONDO:0010121	thrombocytopenia-absent radius syndrome
MONDO:0010122	congenital thrombotic thrombocytopenic purpura
MONDO:0010123	absent thumb-short stature-immunodeficiency syndrome
MONDO:0010124	thumb, distal hyperextensibility of
MONDO:0010125	upper limb defect-eye and ear abnormalities syndrome
MONDO:0010126	thymic aplasia with fetal death
MONDO:0010127	thymoma, familial
MONDO:0010128	thyrocerebrorenal syndrome
MONDO:0010129	thymic-renal-anal-lung dysplasia
MONDO:0010130	dihydropyrimidine dehydrogenase deficiency
MONDO:0010131	thyroid hormone resistance, generalized, autosomal recessive
MONDO:0010132	familial thyroid dyshormonogenesis
MONDO:0010133	thyroid dyshormonogenesis 2A
MONDO:0010134	Pendred syndrome
MONDO:0010135	thyroid dyshormonogenesis 3
MONDO:0010136	thyroid dyshormonogenesis 4
MONDO:0010137	thyroid dyshormonogenesis 5
MONDO:0010138	thyrotoxicosis
MONDO:0010139	isolated thyroid-stimulating hormone deficiency
MONDO:0010140	isolated thyrotropin-releasing hormone deficiency
MONDO:0010141	tiglic acidemia
MONDO:0010142	hypothyroidism due to TSH receptor mutations
MONDO:0010143	lethal restrictive dermopathy
MONDO:0010144	tibial hemimelia
MONDO:0010145	tibia, absence of, with congenital deafness
MONDO:0010146	Kerion celsi
MONDO:0010147	tongue, pigmented fungiform papillae of
MONDO:0010148	Mounier-Kuhn syndrome
MONDO:0010149	transcobalamin II deficiency
MONDO:0010150	head and neck squamous cell carcinoma
MONDO:0010151	tricarboxylic acid cycle, defect of
MONDO:0010152	trichomegaly-retina pigmentary degeneration-dwarfism syndrome
MONDO:0010153	trichoodontoonychial dysplasia
MONDO:0010154	trigonocephaly-bifid nose-acral anomalies syndrome
MONDO:0010155	Dorfman-Chanarin disease
MONDO:0010156	Troyer syndrome
MONDO:0010157	Tryptophanuria with dwarfism
MONDO:0010158	T-substance anomaly
MONDO:0010159	mismatch repair cancer syndrome 1
MONDO:0010160	tyrosinemia type II
MONDO:0010161	tyrosinemia type I
MONDO:0010162	tyrosinemia type III
MONDO:0010163	Tyrosinosis
MONDO:0010164	phocomelia, Schinzel type
MONDO:0010165	ulna hypoplasia-intellectual disability syndrome
MONDO:0010166	ulnar agenesis and endocardial fibroelastosis
MONDO:0010167	urocanic aciduria
MONDO:0010168	Usher syndrome type 1
MONDO:0010169	Usher syndrome type 2A
MONDO:0010170	Usher syndrome type 3A
MONDO:0010171	Usher syndrome type 1C
MONDO:0010172	VACTERL with hydrocephalus
MONDO:0010173	Mayer-Rokitansky-Kuster-Hauser syndrome type 1
MONDO:0010174	Valinemia
MONDO:0010175	van Bogaert-Hozay syndrome
MONDO:0010176	orofaciodigital syndrome type 6
MONDO:0010177	vascular hyalinosis
MONDO:0010178	congenital bilateral aplasia of vas deferens from CFTR mutation
MONDO:0010179	isolated right ventricular hypoplasia
MONDO:0010180	autosomal recessive spondylocostal dysostosis
MONDO:0010181	oculogastrointestinal muscular dystrophy
MONDO:0010182	hypercarotenemia and vitamin A deficiency, autosomal recessive
MONDO:0010183	methylmalonic aciduria and homocystinuria type cblF
MONDO:0010184	methylmalonic aciduria and homocystinuria type cblC
MONDO:0010185	methylmalonic aciduria and homocystinuria type cblD
MONDO:0010186	vitamin D-dependent rickets, type 2A
MONDO:0010187	vitamin K-dependent clotting factors, combined deficiency of, type 1
MONDO:0010188	familial isolated deficiency of vitamin E
MONDO:0010189	vitiligo, progressive, with intellectual disability and urethral duplication
MONDO:0010190	pontocerebellar hypoplasia type 2A
MONDO:0010191	von Willebrand disease 3
MONDO:0010192	Waardenburg syndrome type 4A
MONDO:0010193	Weaver syndrome
MONDO:0010194	Weill-Marchesani syndrome 1
MONDO:0010196	Werner syndrome
MONDO:0010197	whistling face syndrome, recessive form
MONDO:0010198	Wernicke-Korsakoff syndrome
MONDO:0010199	white forelock with malformations
MONDO:0010200	Wilson disease
MONDO:0010201	Winchester syndrome
MONDO:0010203	intellectual disability, Wolff type
MONDO:0010204	lysosomal acid lipase deficiency
MONDO:0010206	hypotrichosis 8
MONDO:0010207	woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
MONDO:0010208	wrinkly skin syndrome
MONDO:0010209	xanthinuria type I
MONDO:0010210	xeroderma pigmentosum group A
MONDO:0010211	xeroderma pigmentosum group C
MONDO:0010212	xeroderma pigmentosum group D
MONDO:0010213	xeroderma pigmentosum group E
MONDO:0010214	xeroderma pigmentosum variant type
MONDO:0010215	xeroderma pigmentosum group F
MONDO:0010216	xeroderma pigmentosum group G
MONDO:0010217	de Sanctis-Cacchione syndrome
MONDO:0010218	46,XX sex reversal 2
MONDO:0010219	xylosidase deficiency
MONDO:0010220	Young syndrome
MONDO:0010221	CHIME syndrome
MONDO:0010222	X-linked Opitz G/BBB syndrome
MONDO:0010224	corpus callosum agenesis-abnormal genitalia syndrome
MONDO:0010225	Dent disease type 1
MONDO:0010226	46,XY sex reversal 2
MONDO:0010227	retinitis pigmentosa 3
MONDO:0010228	deafness, X-linked 3
MONDO:0010229	alopecia, congenital
MONDO:0010230	intellectual disability, X-linked 23
MONDO:0010231	intellectual disability, X-linked 20
MONDO:0010232	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
MONDO:0010233	heterotopia, periventricular, X-linked dominant
MONDO:0010235	X-linked intellectual disability-psychosis-macroorchidism syndrome
MONDO:0010236	intellectual disability, X-linked 14
MONDO:0010237	X-linked intellectual disability-plagiocephaly syndrome
MONDO:0010238	deafness, X-linked 4
MONDO:0010239	lissencephaly type 1 due to doublecortin gene mutation
MONDO:0010241	congenital stationary night blindness 2A
MONDO:0010242	fetal akinesia syndrome, X-linked
MONDO:0010243	X-linked immunoneurologic disorder
MONDO:0010244	CGF1
MONDO:0010245	X-linked cone-rod dystrophy 2
MONDO:0010246	developmental and epileptic encephalopathy, 9
MONDO:0010247	X-linked cerebral adrenoleukodystrophy
MONDO:0010248	X-linked spondyloepimetaphyseal dysplasia
MONDO:0010250	intellectual disability, X-linked 49
MONDO:0010251	intellectual disability, X-linked 50
MONDO:0010252	intellectual disability, X-linked, with panhypopituitarism
MONDO:0010256	intellectual disability, X-linked 21
MONDO:0010257	prostate cancer, hereditary, X-linked 1
MONDO:0010258	MEHMO syndrome
MONDO:0010259	retinitis pigmentosa 24
MONDO:0010260	arthrogryposis, congenital, lower limb, X-linked
MONDO:0010261	microphthalmia, syndromic 2
MONDO:0010263	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
MONDO:0010264	X-linked adrenal hypoplasia congenita
MONDO:0010265	Simpson-Golabi-Behmel syndrome type 2
MONDO:0010266	intellectual disability, X-linked 58
MONDO:0010267	episodic muscle weakness, X-linked
MONDO:0010268	X-linked lissencephaly with abnormal genitalia
MONDO:0010269	Coats disease
MONDO:0010270	syndromic X-linked intellectual disability 7
MONDO:0010271	X-linked myotubular myopathy-abnormal genitalia syndrome
MONDO:0010274	testicular germ cell tumor 1
MONDO:0010275	spondyloepimetaphyseal dysplasia, Bieganski type
MONDO:0010277	syndromic X-linked intellectual disability Shashi type
MONDO:0010278	Christianson syndrome
MONDO:0010279	terminal osseous dysplasia-pigmentary defects syndrome
MONDO:0010280	ptosis, hereditary congenital 2
MONDO:0010281	Danon disease
MONDO:0010283	syndromic X-linked intellectual disability Lubs type
MONDO:0010284	Armfield syndrome
MONDO:0010285	syndromic X-linked intellectual disability Abidi type
MONDO:0010286	syndromic X-linked intellectual disability Siderius type
MONDO:0010287	hereditary spastic paraplegia 16
MONDO:0010288	adrenomyodystrophy
MONDO:0010289	intellectual disability, X-linked 72
MONDO:0010290	goiter, multinodular 2
MONDO:0010292	Uruguay Faciocardiomusculoskeletal syndrome
MONDO:0010294	X-linked severe congenital neutropenia
MONDO:0010296	immunodeficiency 61
MONDO:0010297	FG syndrome 2
MONDO:0010298	Lesch-Nyhan syndrome
MONDO:0010299	hypoxanthine guanine phosphoribosyltransferase partial deficiency
MONDO:0010300	intellectual disability, X-linked 53
MONDO:0010302	Ito hypomelanosis
MONDO:0010305	creatine transporter deficiency
MONDO:0010306	X-linked intellectual disability, Cabezas type
MONDO:0010307	intellectual disability, X-linked 73
MONDO:0010308	thrombocytopenia, X-linked, with or without dyserythropoietic anemia
MONDO:0010310	osteopathia striata with cranial sclerosis
MONDO:0010311	Becker muscular dystrophy
MONDO:0010313	intellectual disability, X-linked 63
MONDO:0010314	polymicrogyria, bilateral perisylvian, X-linked
MONDO:0010315	T-B+ severe combined immunodeficiency due to gamma chain deficiency
MONDO:0010317	intellectual disability, X-linked, with or without seizures, arx-related
MONDO:0010318	FG syndrome 4
MONDO:0010319	syndromic X-linked intellectual disability Hedera type
MONDO:0010320	retinitis pigmentosa 23
MONDO:0010322	intellectual disability, X-linked 2
MONDO:0010323	Atkin-Flaitz syndrome
MONDO:0010324	intellectual disability, X-linked 81
MONDO:0010325	X-linked intellectual disability, Stocco dos Santos type
MONDO:0010326	intellectual disability, X-linked 46
MONDO:0010327	HSD10 mitochondrial disease
MONDO:0010328	alpha-thalassemia-myelodysplastic syndrome
MONDO:0010329	intellectual disability, X-linked 77
MONDO:0010330	primary ciliary dyskinesia-retinitis pigmentosa syndrome
MONDO:0010332	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
MONDO:0010333	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
MONDO:0010334	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
MONDO:0010335	X-linked cone-rod dystrophy 3
MONDO:0010336	orofaciodigital syndrome VIII
MONDO:0010337	X-linked intellectual disability-cerebellar hypoplasia syndrome
MONDO:0010338	X-linked distal spinal muscular atrophy type 3
MONDO:0010339	X-linked epilepsy-learning disabilities-behavior disorders syndrome
MONDO:0010340	Asperger syndrome, X-linked, susceptibility to, 1
MONDO:0010343	Asperger syndrome, X-linked, susceptibility to, 2
MONDO:0010344	intellectual disability, X-linked 45
MONDO:0010347	intellectual disability, X-linked 84
MONDO:0010349	ovarian dysgenesis 2
MONDO:0010350	premature ovarian failure 2A
MONDO:0010351	Fanconi anemia complementation group B
MONDO:0010352	intellectual disability, X-linked 82
MONDO:0010353	deafness-intellectual disability, Martin-Probst type syndrome
MONDO:0010354	Allan-Herndon-Dudley syndrome
MONDO:0010355	syndromic X-linked intellectual disability Claes-Jensen type
MONDO:0010356	nephrogenic syndrome of inappropriate antidiuresis
MONDO:0010358	hypophosphatemic rickets, X-linked recessive
MONDO:0010359	Dent disease type 2
MONDO:0010361	intellectual disability, X-linked 30
MONDO:0010362	glycogen storage disease IXd
MONDO:0010363	intellectual disability, X-linked 91
MONDO:0010364	X-linked intellectual disability-retinitis pigmentosa syndrome
MONDO:0010365	myopathy, congenital, with fiber-type disproportion, X-linked
MONDO:0010367	SHOX-related short stature
MONDO:0010369	nystagmus 5, congenital, X-linked
MONDO:0010370	Cornelia de Lange syndrome 2
MONDO:0010371	Aland island eye disease
MONDO:0010373	premature ovarian failure 2B
MONDO:0010375	developmental and epileptic encephalopathy, 8
MONDO:0010378	X-linked hereditary sensory and autonomic neuropathy with deafness
MONDO:0010379	Brunner syndrome
MONDO:0010380	cataract, ataxia, short stature, and intellectual disability
MONDO:0010381	Tn polyagglutination syndrome
MONDO:0010382	fragile X-associated tremor/ataxia syndrome
MONDO:0010383	fragile X syndrome
MONDO:0010384	hypospadias 1, X-linked
MONDO:0010385	X-linked lymphoproliferative disease due to XIAP deficiency
MONDO:0010386	immunodeficiency 33
MONDO:0010388	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
MONDO:0010389	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
MONDO:0010390	ocular albinism with late-onset sensorineural deafness
MONDO:0010391	angioma serpiginosum, X-linked
MONDO:0010392	glycogen storage disease due to phosphoglycerate kinase 1 deficiency
MONDO:0010393	intellectual disability, X-linked 93
MONDO:0010395	phosphoribosylpyrophosphate synthetase superactivity
MONDO:0010396	developmental and epileptic encephalopathy, 2
MONDO:0010397	severe neonatal-onset encephalopathy with microcephaly
MONDO:0010398	syndromic X-linked intellectual disability 14
MONDO:0010399	chromosome Xp21 deletion syndrome
MONDO:0010400	X-linked scapuloperoneal muscular dystrophy
MONDO:0010401	X-linked myopathy with postural muscle atrophy
MONDO:0010402	syndromic X-linked intellectual disability 94
MONDO:0010403	albinism-deafness syndrome
MONDO:0010404	X-linked non progressive cerebellar ataxia
MONDO:0010406	chromosome Xp11.22 duplication syndrome
MONDO:0010407	intellectual disability, X-linked syndromic, Turner type
MONDO:0010408	syndactyly-telecanthus-anogenital and renal malformations syndrome
MONDO:0010409	syndromic X-linked intellectual disability Shrimpton type
MONDO:0010412	X-linked intellectual disability-craniofacioskeletal syndrome
MONDO:0010413	intellectual disability, X-linked 95
MONDO:0010414	myopathy, reducing body, X-linked, early-onset, severe
MONDO:0010415	myopathy, reducing body, X-linked, childhood-onset
MONDO:0010416	deafness, cataract, retinitis pigmentosa, and sperm abnormalities
MONDO:0010417	syndromic X-linked intellectual disability Najm type
MONDO:0010418	hereditary spastic paraplegia 34
MONDO:0010420	X-linked erythropoietic protoporphyria
MONDO:0010421	Bruton-type agammaglobulinemia
MONDO:0010423	hypospadias 2, X-linked
MONDO:0010424	surfactant metabolism dysfunction, pulmonary, 4
MONDO:0010425	Lisch epithelial corneal dystrophy
MONDO:0010426	X-linked endothelial corneal dystrophy
MONDO:0010427	syndromic X-linked intellectual disability Raymond type
MONDO:0010428	chromosome Xp11.23-p11.22 duplication syndrome
MONDO:0010429	intellectual disability, X-linked 96
MONDO:0010430	intellectual disability, X-linked 97
MONDO:0010431	Joubert syndrome 10
MONDO:0010432	thrombophilia, X-linked, due to factor 9 defect
MONDO:0010434	synovial sarcoma
MONDO:0010435	nystagmus 6, congenital, X-linked
MONDO:0010437	severe X-linked mitochondrial encephalomyopathy
MONDO:0010438	paroxysmal nocturnal hemoglobinuria 1
MONDO:0010441	CK syndrome
MONDO:0010442	46,XX sex reversal 3
MONDO:0010443	macular degeneration, X-linked atrophic
MONDO:0010444	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
MONDO:0010446	X-linked cone dysfunction syndrome with myopia
MONDO:0010447	intellectual disability, X-linked 19
MONDO:0010448	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
MONDO:0010450	intellectual disability, X-linked 89
MONDO:0010451	intellectual disability, X-linked 41
MONDO:0010452	intellectual disability, X-linked 90
MONDO:0010453	intellectual disability, X-linked 92
MONDO:0010454	intellectual disability, XMEN-linked 88
MONDO:0010455	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MONDO:0010456	renal cell carcinoma, Xp11-associated
MONDO:0010457	Ogden syndrome
MONDO:0010459	amyotrophic lateral sclerosis type 15
MONDO:0010460	syndromic X-linked intellectual disability 17
MONDO:0010461	syndromic X-linked intellectual disability Nascimento type
MONDO:0010462	syndromic X-linked intellectual disability Chudley-Schwartz type
MONDO:0010463	X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MONDO:0010464	X-linked cerebral-cerebellar-coloboma syndrome syndrome
MONDO:0010465	Kabuki syndrome 2
MONDO:0010466	multiple congenital anomalies-hypotonia-seizures syndrome 2
MONDO:0010467	Xq27.3q28 duplication syndrome
MONDO:0010471	Cornelia de Lange syndrome 5
MONDO:0010472	developmental and epileptic encephalopathy, 36
MONDO:0010473	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
MONDO:0010474	linear skin defects with multiple congenital anomalies 2
MONDO:0010475	X-linked central congenital hypothyroidism with late-onset testicular enlargement
MONDO:0010476	neurodegeneration with brain iron accumulation 5
MONDO:0010477	blepharophimosis - intellectual disability syndrome, MKB type
MONDO:0010478	SLC35A2-CDG
MONDO:0010479	Charcot-Marie-Tooth disease X-linked dominant 6
MONDO:0010480	anemia, nonspherocytic hemolytic, due to G6PD deficiency
MONDO:0010482	X-linked parkinsonism-spasticity syndrome
MONDO:0010483	X-linked intellectual disability, Cantagrel type
MONDO:0010484	deafness, X-linked 6
MONDO:0010485	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
MONDO:0010486	Olmsted syndrome, X-linked
MONDO:0010487	intellectual disability, X-linked 99
MONDO:0010488	intellectual disability, X-linked 100
MONDO:0010489	intellectual disability, X-linked 101
MONDO:0010490	SSR4-CDG
MONDO:0010491	X-linked acrogigantism due to Xq26 microduplication
MONDO:0010492	pituitary adenoma, growth hormone-secreting, 2
MONDO:0010493	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
MONDO:0010494	linear skin defects with multiple congenital anomalies 3
MONDO:0010495	trichothiodystrophy 5, nonphotosensitive
MONDO:0010496	X-linked intellectual disability-short stature-overweight syndrome
MONDO:0010497	intellectual disability, X-linked 102
MONDO:0010498	MEND syndrome
MONDO:0010499	Ritscher-Schinzel syndrome 2
MONDO:0010500	intellectual disability, X-linked, syndromic 33
MONDO:0010501	syndromic X-linked intellectual disability 34
MONDO:0010502	intellectual disability, X-linked 99, syndromic, female-restricted
MONDO:0010503	Bartter disease type 5
MONDO:0010504	immunodeficiency 47
MONDO:0010505	intellectual disability-balding-patella luxation-acromicria syndrome
MONDO:0010506	intellectual disability, X-linked 61
MONDO:0010507	Xq25 microduplication syndrome
MONDO:0010508	intellectual disability, X-linked 103
MONDO:0010509	intellectual disability, X-linked 104
MONDO:0010510	intellectual disability, X-linked 105
MONDO:0010511	vas deferens, congenital bilateral aplasia of, X-linked
MONDO:0010512	intellectual disability, X-linked, syndromic, bain type
MONDO:0010514	combined immunodeficiency due to moesin deficiency
MONDO:0010515	Meester-Loeys syndrome
MONDO:0010516	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
MONDO:0010517	ciliary dyskinesia, primary, 36, X-linked
MONDO:0010518	Wiskott-Aldrich syndrome
MONDO:0010519	alpha thalassemia-X-linked intellectual disability syndrome
MONDO:0010520	X-linked Alport syndrome
MONDO:0010521	amelogenesis imperfecta type 1E
MONDO:0010522	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
MONDO:0010523	X-linked reticulate pigmentary disorder
MONDO:0010524	X-linked sideroblastic anemia with ataxia
MONDO:0010525	neural tube defects, X-linked
MONDO:0010526	Fabry disease
MONDO:0010527	microphthalmia-ankyloblepharon-intellectual disability syndrome
MONDO:0010528	anosmia
MONDO:0010529	X-linked spinocerebellar ataxia type 3
MONDO:0010531	contractures-ectodermal dysplasia-cleft lip/palate syndrome
MONDO:0010532	infantile-onset X-linked spinal muscular atrophy
MONDO:0010533	Arts syndrome
MONDO:0010534	X-linked spinocerebellar ataxia type 4
MONDO:0010535	Bazex-Dupre-Christol syndrome
MONDO:0010537	Borjeson-Forssman-Lehmann syndrome
MONDO:0010538	Mononen-Karnes-Senac syndrome
MONDO:0010539	X-linked mandibulofacial dysostosis
MONDO:0010540	bullous dystrophy, macular type
MONDO:0010541	X-linked calvarial hyperostosis
MONDO:0010542	dilated cardiomyopathy 3B
MONDO:0010543	Barth syndrome
MONDO:0010544	cataract 40
MONDO:0010545	Nance-Horan syndrome
MONDO:0010546	central incisors, absence of
MONDO:0010547	X-linked progressive cerebellar ataxia
MONDO:0010548	spinocerebellar ataxia, X-linked 2
MONDO:0010549	Charcot-Marie-Tooth disease X-linked dominant 1
MONDO:0010550	Charcot-Marie-Tooth disease X-linked recessive 2
MONDO:0010551	Charcot-Marie-Tooth disease X-linked recessive 3
MONDO:0010552	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
MONDO:0010553	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined
MONDO:0010554	Abruzzo-Erickson syndrome
MONDO:0010555	X-linked chondrodysplasia punctata 1
MONDO:0010557	choroideremia
MONDO:0010558	choroideremia-deafness-obesity syndrome
MONDO:0010559	MASA syndrome
MONDO:0010560	cleft palate with or without ankyloglossia, X-linked
MONDO:0010561	Coffin-Lowry syndrome
MONDO:0010562	colonic atresia
MONDO:0010563	blue cone monochromacy
MONDO:0010564	red-green color blindness
MONDO:0010565	red color blindness
MONDO:0010566	X-linked cone-rod dystrophy 1
MONDO:0010567	cone dystrophy, X-linked, with tapetal-like sheen
MONDO:0010568	Aicardi syndrome
MONDO:0010569	X-linked complicated corpus callosum dysgenesis
MONDO:0010570	craniofrontonasal syndrome
MONDO:0010571	otopalatodigital syndrome type 2
MONDO:0010572	occipital horn syndrome
MONDO:0010573	cutis verticis gyrata, thyroid aplasia, and intellectual disability
MONDO:0010574	syndromic X-linked intellectual disability 5
MONDO:0010575	deafness-hypogonadism syndrome
MONDO:0010576	X-linked mixed deafness with perilymphatic gusher
MONDO:0010577	deafness, X-linked 1
MONDO:0010578	deafness dystonia syndrome
MONDO:0010579	X-linked corneal dermoid
MONDO:0010580	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
MONDO:0010581	diabetes insipidus, nephrogenic, X-linked
MONDO:0010583	Dyggve-Melchior-Clausen syndrome, X-linked
MONDO:0010584	dyskeratosis congenita, X-linked
MONDO:0010585	X-linked hypohidrotic ectodermal dysplasia
MONDO:0010586	X-linked Ehlers-Danlos syndrome
MONDO:0010587	epidermodysplasia verruciformis, X-linked
MONDO:0010588	exudative vitreoretinopathy 2, X-linked
MONDO:0010589	Aarskog-Scott syndrome, X-linked
MONDO:0010590	FG syndrome 1
MONDO:0010591	fingerprint body myopathy
MONDO:0010592	focal dermal hypoplasia
MONDO:0010594	inherited genitourinary tract anomalies
MONDO:0010596	membranoproliferative glomerulonephritis, X-linked
MONDO:0010598	glycogen storage disease IXa
MONDO:0010599	granulomas, congenital cerebral
MONDO:0010600	granulomatous disease, chronic, X-linked
MONDO:0010602	hemophilia A
MONDO:0010603	hemophilia A with vascular abnormality
MONDO:0010604	hemophilia B
MONDO:0010605	hemopoietic proliferation
MONDO:0010606	hernia, anterior diaphragmatic
MONDO:0010607	heterotaxy, visceral, 1, X-linked
MONDO:0010608	Hhhh syndrome
MONDO:0010610	holoprosencephaly-hypokinesia-congenital contractures syndrome
MONDO:0010611	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
MONDO:0010612	hydrocephaly-cerebellar agenesis syndrome
MONDO:0010613	inborn glycerol kinase deficiency
MONDO:0010614	X-linked congenital generalized hypertrichosis
MONDO:0010615	isolated growth hormone deficiency type III
MONDO:0010617	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
MONDO:0010618	familial isolated hypoparathyroidism due to agenesis of parathyroid gland
MONDO:0010619	X-linked dominant hypophosphatemic rickets
MONDO:0010620	hypouricemia, familial renal, due to tubular hypersecretion
MONDO:0010621	CHILD syndrome
MONDO:0010622	recessive X-linked ichthyosis
MONDO:0010623	ichthyosis and male hypogonadism
MONDO:0010625	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
MONDO:0010626	hyper-IgM syndrome type 1
MONDO:0010627	X-Linked Lymphoproliferative Syndrome
MONDO:0010628	immunoglobulin M, level of
MONDO:0010629	impacted teeth, multiple
MONDO:0010631	incontinentia pigmenti
MONDO:0010632	developmental and epileptic encephalopathy, 1
MONDO:0010633	iris hypoplasia with glaucoma
MONDO:0010634	jaundice, familial obstructive, of infancy
MONDO:0010635	hypogonadotropic hypogonadism 1 with or without anosmia
MONDO:0010636	Kallmann syndrome with spastic paraplegia
MONDO:0010637	keratosis follicularis spinulosa decalvans, X-linked
MONDO:0010638	keratosis follicularis-dwarfism-cerebral atrophy syndrome
MONDO:0010639	laryngeal abductor paralysis-intellectual disability syndrome
MONDO:0010640	Leber optic atrophy, susceptibility to
MONDO:0010641	X-linked diffuse leiomyomatosis-Alport syndrome
MONDO:0010642	Lesch-Nyhan phenotype with normal HGPRT
MONDO:0010644	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
MONDO:0010645	oculocerebrorenal syndrome
MONDO:0010646	macular dystrophy, X-linked
MONDO:0010647	spermatogenic failure, X-linked, 2
MONDO:0010648	major affective disorder 2
MONDO:0010649	isolated congenital megalocornea
MONDO:0010650	Melnick-Needles syndrome
MONDO:0010651	Menkes disease
MONDO:0010652	X-linked intellectual disability-seizures-psoriasis syndrome
MONDO:0010653	Renpenning syndrome
MONDO:0010654	Partington syndrome
MONDO:0010655	X-linked intellectual disability with marfanoid habitus
MONDO:0010656	intellectual disability, X-linked 1
MONDO:0010657	methylmalonic acidemia with homocystinuria, type cblX
MONDO:0010658	syndromic X-linked intellectual disability 12
MONDO:0010659	FRAXE intellectual disability
MONDO:0010660	intellectual disability, X-linked 9
MONDO:0010661	severe X-linked intellectual disability, Gustavson type
MONDO:0010662	paraplegia-intellectual disability-hyperkeratosis syndrome
MONDO:0010663	X-linked intellectual disability-hypotonic face syndrome
MONDO:0010664	syndromic X-linked intellectual disability Snyder type
MONDO:0010665	Wilson-Turner syndrome
MONDO:0010667	Prieto syndrome
MONDO:0010668	skeletal dysplasia-intellectual disability syndrome
MONDO:0010669	syndactyly type 8
MONDO:0010670	X-linked intellectual disability-spastic quadriparesis syndrome
MONDO:0010671	microphthalmia, syndromic 1
MONDO:0010672	linear skin defects with multiple congenital anomalies
MONDO:0010673	modifier, X-linked, for Neurofunctional defects
MONDO:0010674	mucopolysaccharidosis type 2
MONDO:0010675	muscular dystrophy, cardiac type
MONDO:0010676	muscular dystrophy, Hemizygous lethal type
MONDO:0010677	muscular dystrophy, Mabry type
MONDO:0010678	muscular dystrophy, progressive Pectorodorsal
MONDO:0010679	Duchenne muscular dystrophy
MONDO:0010680	X-linked Emery-Dreifuss muscular dystrophy
MONDO:0010681	myelolymphatic insufficiency
MONDO:0010682	myoclonic epilepsy, progressive, X-linked
MONDO:0010683	X-linked centronuclear myopathy
MONDO:0010684	X-linked myopathy with excessive autophagy
MONDO:0010685	myopia 1, X-linked
MONDO:0010686	N syndrome
MONDO:0010687	nephrolithiasis, X-linked recessive, with renal failure
MONDO:0010688	hereditary sensory neuropathy X-linked
MONDO:0010689	Charcot-Marie-Tooth disease X-linked recessive 4
MONDO:0010690	congenital stationary night blindness 1A
MONDO:0010691	Norrie disease
MONDO:0010693	nystagmus 1, congenital, X-linked
MONDO:0010694	nystagmus, myoclonic
MONDO:0010695	occipital hair, white lock of
MONDO:0010696	omphalocele, X-linked
MONDO:0010697	ophthalmoplegia, external, and myopia
MONDO:0010698	optic atrophy 2
MONDO:0010699	Charcot-Marie-Tooth disease X-linked recessive 5
MONDO:0010700	optic atrophy--spastic paraplegia syndrome
MONDO:0010702	orofaciodigital syndrome I
MONDO:0010703	ornithine carbamoyltransferase deficiency
MONDO:0010704	otopalatodigital syndrome type 1
MONDO:0010706	premature ovarian failure 1
MONDO:0010707	Paine syndrome
MONDO:0010708	Pallister-W syndrome
MONDO:0010709	early-onset parkinsonism-intellectual disability syndrome
MONDO:0010710	Pierre Robin syndrome-faciodigital anomaly syndrome
MONDO:0010711	TARP syndrome
MONDO:0010712	panhypopituitarism, X-linked
MONDO:0010713	properdin deficiency, X-linked
MONDO:0010714	Pelizaeus-Merzbacher disease
MONDO:0010716	X-linked lethal multiple pterygium syndrome
MONDO:0010717	pyruvate dehydrogenase E1-alpha deficiency
MONDO:0010718	absent radius-anogenital anomalies syndrome
MONDO:0010719	radiation sensitivity of natural killer activity
MONDO:0010720	partial androgen insensitivity syndrome
MONDO:0010721	reticuloendotheliosis, X-linked
MONDO:0010722	X-linked retinal dysplasia
MONDO:0010723	retinitis pigmentosa 2
MONDO:0010725	X-linked retinoschisis
MONDO:0010726	Rett syndrome
MONDO:0010727	Russell-silver syndrome, X-linked
MONDO:0010728	SCARF syndrome
MONDO:0010729	X-linked intellectual disability, Schimke type
MONDO:0010730	combined immunodeficiency, X-linked
MONDO:0010731	Simpson-Golabi-Behmel syndrome
MONDO:0010732	spastic paraparesis-deafness syndrome
MONDO:0010733	hereditary spastic paraplegia 2
MONDO:0010734	spatial visualization, aptitude for
MONDO:0010735	Kennedy disease
MONDO:0010736	split hand-foot malformation 2
MONDO:0010737	spondyloepiphyseal dysplasia tarda, X-linked
MONDO:0010738	spondylometaphyseal dysplasia, Golden type
MONDO:0010740	taurodontism, microdontia, and dens invaginatus
MONDO:0010741	tooth agenesis, selective, X-linked, 1
MONDO:0010742	pentalogy of Cantrell
MONDO:0010743	thrombocytopenia 1
MONDO:0010744	thrombocytopenia with elevated serum IgA and renal disease
MONDO:0010745	beta-thalassemia-X-linked thrombocytopenia syndrome
MONDO:0010746	thumbs, congenital Clasped
MONDO:0010747	X-linked dystonia-parkinsonism
MONDO:0010748	torticollis-keloids-cryptorchidism-renal dysplasia syndrome
MONDO:0010749	trigonocephaly-short stature-developmental delay syndrome
MONDO:0010750	ulnar hypoplasia-split foot syndrome
MONDO:0010751	unique green phenomenon
MONDO:0010752	VACTERL association, X-linked, with or without hydrocephalus
MONDO:0010753	cardiac valvular dysplasia, X-linked
MONDO:0010754	van den Bosch syndrome
MONDO:0010755	vesicoureteral reflux, X-linked
MONDO:0010756	Von Willebrand disease, X-linked form
MONDO:0010757	widow's peak syndrome
MONDO:0010758	Wieacker-Wolff syndrome
MONDO:0010759	Wildervanck syndrome
MONDO:0010761	retinitis pigmentosa Y-linked
MONDO:0010764	deafness, Y-linked 1
MONDO:0010765	46,XY complete gonadal dysgenesis
MONDO:0010767	spermatogenic failure, Y-linked, 2
MONDO:0010769	hairy ears, Y-linked
MONDO:0010771	histiocytoid cardiomyopathy
MONDO:0010772	Leber optic atrophy and dystonia
MONDO:0010773	myopathy and diabetes mellitus
MONDO:0010774	striatonigral degeneration, infantile, mitochondrial
MONDO:0010778	cyclic vomiting syndrome
MONDO:0010780	mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MONDO:0010784	chloramphenicol toxicity
MONDO:0010785	maternally-inherited diabetes and deafness
MONDO:0010787	Kearns-Sayre syndrome
MONDO:0010788	Leber hereditary optic neuropathy
MONDO:0010789	MELAS syndrome
MONDO:0010790	MERRF syndrome
MONDO:0010791	myoglobinuria, recurrent
MONDO:0010792	lethal infantile mitochondrial myopathy
MONDO:0010794	NARP syndrome
MONDO:0010795	oncocytic neoplasm
MONDO:0010797	Pearson syndrome
MONDO:0010798	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
MONDO:0010799	aminoglycoside-induced deafness
MONDO:0010800	Wolfram syndrome, mitochondrial form
MONDO:0010801	spondylocamptodactyly syndrome
MONDO:0010802	pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MONDO:0010803	Eiken syndrome
MONDO:0010805	bladder exstrophy
MONDO:0010806	retinitis pigmentosa 13
MONDO:0010807	autosomal recessive nonsyndromic deafness 2
MONDO:0010808	fatal familial insomnia
MONDO:0010809	familial chronic myelocytic leukemia-like syndrome
MONDO:0010810	vitamin D hydroxylation-deficient rickets, type 1B
MONDO:0010811	benign prostatic hyperplasia
MONDO:0010812	macrocytosis, familial
MONDO:0010813	pancreatic beta cell agenesis with neonatal diabetes mellitus
MONDO:0010814	chondrodysplasia-pseudohermaphroditism syndrome
MONDO:0010815	spondyloepiphyseal dysplasia tarda with characteristic facies
MONDO:0010816	Qazi Markouizos syndrome
MONDO:0010817	autosomal dominant nonsyndromic deafness 2A
MONDO:0010818	retinitis pigmentosa 12
MONDO:0010819	Stargardt disease 3
MONDO:0010820	autosomal recessive juvenile Parkinson disease 2
MONDO:0010821	familial developmental dysphasia
MONDO:0010822	Warburg micro syndrome 1
MONDO:0010823	rhizomelic chondrodysplasia punctata type 3
MONDO:0010824	disorder of sex development-intellectual disability syndrome
MONDO:0010825	atrioventricular defect-blepharophimosis-radial and anal defect syndrome
MONDO:0010826	childhood absence epilepsy
MONDO:0010827	retinitis pigmentosa 14
MONDO:0010828	retinitis pigmentosa 11
MONDO:0010829	CARASIL syndrome
MONDO:0010830	neuronal ceroid lipofuscinosis 8
MONDO:0010831	familial caudal dysgenesis
MONDO:0010832	Bardet-Biedl syndrome 3
MONDO:0010833	Hirschsprung disease, susceptibility to, 2
MONDO:0010834	hirschsprung disease, susceptibility to, 5
MONDO:0010835	pterygium colli-intellectual disability-digital anomalies syndrome
MONDO:0010836	nanophthalmos 1
MONDO:0010838	gonadal agenesis
MONDO:0010839	autosomal dominant congenital benign spinal muscular atrophy
MONDO:0010840	pachygyria-intellectual disability-epilepsy syndrome
MONDO:0010841	Waardenburg syndrome type 2B
MONDO:0010842	multiple cutaneous and mucosal venous malformations
MONDO:0010843	dyslexia, susceptibility to, 2
MONDO:0010844	epiphyseal dysplasia, multiple, 2
MONDO:0010846	exostoses, multiple, type III
MONDO:0010847	spinocerebellar ataxia type 4
MONDO:0010848	spinocerebellar ataxia type 5
MONDO:0010849	palmoplantar keratoderma, Bothnian type
MONDO:0010850	Tessier number 4 facial cleft
MONDO:0010851	Lowry-MacLean syndrome
MONDO:0010852	chromosome 8Q12.1-q21.2 deletion syndrome
MONDO:0010853	Helicobacter pylori infection, susceptibility to
MONDO:0010854	Toriello-Lacassie-Droste syndrome
MONDO:0010855	short tarsus-absence of lower eyelashes syndrome
MONDO:0010856	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MONDO:0010857	semantic dementia
MONDO:0010858	macrocephaly-spastic paraplegia-dysmorphism syndrome
MONDO:0010859	atrioventricular septal defect 3
MONDO:0010860	autosomal recessive nonsyndromic deafness 3
MONDO:0010865	pseudoaminopterin syndrome
MONDO:0010866	infantile osteopetrosis with neuroaxonal dysplasia
MONDO:0010867	PARC syndrome
MONDO:0010868	rippling muscle disease 1
MONDO:0010869	motor neuron disease with dementia and ophthalmoplegia
MONDO:0010870	tibial muscular dystrophy
MONDO:0010871	succinic acidemia
MONDO:0010872	parotid salivary glands, polycystic dysgenetic disease of
MONDO:0010873	band heterotopia of brain
MONDO:0010874	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
MONDO:0010875	pachydermodactyly, familial
MONDO:0010876	recessive aplasia cutis congenita of limbs
MONDO:0010877	Charcot-Marie-Tooth disease type 5
MONDO:0010878	hereditary spastic paraplegia 6
MONDO:0010879	CODAS syndrome
MONDO:0010880	telangiectasia, hereditary hemorrhagic, type 2
MONDO:0010881	mesomelia-synostoses syndrome
MONDO:0010882	aphalangy-syndactyly-microcephaly syndrome
MONDO:0010883	pectus excavatum-macrocephaly-dysplastic nails syndrome
MONDO:0010884	muscular dystrophy, scapulohumeral
MONDO:0010885	angiokeratoma corporis diffusum with arteriovenous fistulas
MONDO:0010886	2q37 microdeletion syndrome
MONDO:0010887	isolated anterior cervical hypertrichosis
MONDO:0010888	endometriosis of uterus
MONDO:0010889	arterial dissection-lentiginosis syndrome
MONDO:0010890	acrocardiofacial syndrome
MONDO:0010891	lethal hemolytic anemia-genital anomalies syndrome
MONDO:0010893	malignant hyperthermia, susceptibility to, 4
MONDO:0010894	maturity-onset diabetes of the young type 3
MONDO:0010895	ABCD syndrome
MONDO:0010896	pigment dispersion syndrome
MONDO:0010897	schizophrenia 3
MONDO:0010898	Autosomal dominant epilepsy with auditory features
MONDO:0010899	autosomal dominant nocturnal frontal lobe epilepsy 1
MONDO:0010900	intrauterine growth retardation with increased mitomycin c sensitivity
MONDO:0010901	HEC syndrome
MONDO:0010902	spondyloepiphyseal dysplasia, Reardon type
MONDO:0010903	craniosynostosis, Adelaide type
MONDO:0010904	setting-Sun phenomenon, familial benign
MONDO:0010905	cone-rod dystrophy 1
MONDO:0010906	orofacial cleft 11
MONDO:0010907	familial hypertryptophanemia
MONDO:0010908	loose anagen syndrome
MONDO:0010909	UV-sensitive syndrome 1
MONDO:0010910	enuresis, nocturnal, 1
MONDO:0010911	prolactin-producing pituitary gland adenoma
MONDO:0010912	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
MONDO:0010913	Caroli disease
MONDO:0010914	carnitine palmitoyl transferase II deficiency, severe infantile form
MONDO:0010915	autosomal dominant nonsyndromic deafness 4A
MONDO:0010916	polycystic kidney disease 3 with or without polycystic liver disease
MONDO:0010917	chondrocalcinosis 1
MONDO:0010918	EIG1
MONDO:0010919	varicella, severe recurrent
MONDO:0010920	microtia
MONDO:0010921	nasal dermoid cyst
MONDO:0010922	Satoyoshi syndrome
MONDO:0010923	proximal myopathy with focal depletion of mitochondria
MONDO:0010925	velo-facial-skeletal syndrome
MONDO:0010926	familial hypocalciuric hypercalcemia 3
MONDO:0010927	orofacial cleft 3
MONDO:0010928	dwarfism, familial, with muscle spasms
MONDO:0010929	craniosynostosis 4
MONDO:0010930	anophthalmia plus syndrome
MONDO:0010931	vitamin D-dependent rickets, type 2B
MONDO:0010932	progressive bifocal chorioretinal atrophy
MONDO:0010933	autosomal recessive nonsyndromic deafness 4
MONDO:0010936	frontotemporal dementia and/or amyotrophic lateral sclerosis 7
MONDO:0010938	T-B+ severe combined immunodeficiency due to JAK3 deficiency
MONDO:0010939	low phospholipid associated cholelithiasis
MONDO:0010940	inherited susceptibility to asthma
MONDO:0010941	nocturnal enuresis, 2
MONDO:0010943	schizophrenia 4
MONDO:0010945	retinitis pigmentosa 17
MONDO:0010946	hypertrophic cardiomyopathy 6
MONDO:0010947	Budd-Chiari syndrome
MONDO:0010948	cataract 10 multiple types
MONDO:0010949	Charcot-Marie-Tooth disease type 2B
MONDO:0010951	dilated cardiomyopathy 1B
MONDO:0010952	hereditary hyperferritinemia with congenital cataracts
MONDO:0010953	Fanconi anemia complementation group E
MONDO:0010954	Wiskott-Aldrich syndrome, autosomal dominant form
MONDO:0010955	ectodermal dysplasia with intellectual disability and syndactyly
MONDO:0010956	enamel hypoplasia, cataracts, and aqueductal stenosis
MONDO:0010957	agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations
MONDO:0010958	cardiac arrhythmia, ankyrin-B-related
MONDO:0010959	van den Ende-Gupta syndrome
MONDO:0010961	obesity due to prohormone convertase I deficiency
MONDO:0010962	diffuse nonepidermolytic palmoplantar keratoderma
MONDO:0010963	autosomal dominant nonsyndromic deafness 6
MONDO:0010964	epiphyseal dysplasia, multiple, 3
MONDO:0010965	autosomal recessive nonsyndromic deafness 6
MONDO:0010966	achondrogenesis type IB
MONDO:0010967	autosomal recessive nonsyndromic deafness 7
MONDO:0010968	glaucoma 3, primary infantile, B
MONDO:0010969	cone-rod dystrophy 5
MONDO:0010970	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
MONDO:0010971	infundibulopelvic stenosis-multicystic kidney syndrome
MONDO:0010972	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
MONDO:0010973	autosomal dominant nonsyndromic deafness 5
MONDO:0010974	nephrotic syndrome, type 2
MONDO:0010975	arrhythmogenic right ventricular dysplasia 2
MONDO:0010976	KRT14-related epidermolysis bullosa simplex
MONDO:0010977	Brody myopathy
MONDO:0010978	portal vein, cavernous transformation of
MONDO:0010979	Timothy syndrome
MONDO:0010980	midline malformations, multiple, with limb abnormalities and hypopituitarism
MONDO:0010981	absent tibia-polydactyly-arachnoid cyst syndrome
MONDO:0010982	ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin
MONDO:0010983	dystonia 9
MONDO:0010984	Usher syndrome type 1D
MONDO:0010985	epilepsy, familial adult myoclonic, 1
MONDO:0010986	autosomal recessive nonsyndromic deafness 9
MONDO:0010987	autosomal recessive nonsyndromic deafness 8
MONDO:0010988	aplasia cutis-myopia syndrome
MONDO:0010989	Mayer-Rokitansky-Küster-Hauser syndrome type 2
MONDO:0010991	laterality defects, autosomal dominant
MONDO:0010992	Ayme-Gripp syndrome
MONDO:0010993	Harrod syndrome
MONDO:0010995	Charcot-Marie-Tooth disease type 1C
MONDO:0010997	supranuclear palsy, progressive, 1
MONDO:0010998	ALG3-CDG
MONDO:0010999	fallot complex-intellectual disability-growth delay syndrome
MONDO:0011001	Brugada syndrome 1
MONDO:0011002	neuropathy, hereditary motor and sensory, type 6A
MONDO:0011003	dilated cardiomyopathy 1E
MONDO:0011004	lissencephaly type 3-metacarpal bone dysplasia syndrome
MONDO:0011005	trisomy 18-like syndrome
MONDO:0011006	hereditary spastic paraplegia 9A
MONDO:0011007	diaphragmatic defect-limb deficiency-skull defect syndrome
MONDO:0011008	cleft lip/palate-intestinal malrotation-cardiopathy syndrome
MONDO:0011009	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
MONDO:0011010	Matthew-Wood syndrome
MONDO:0011011	skeletal dysplasia-epilepsy-short stature syndrome
MONDO:0011012	African iron overload
MONDO:0011013	autosomal dominant hypocalcemia 1
MONDO:0011014	Pleuropulmonary blastoma
MONDO:0011015	cataract 24
MONDO:0011017	Naxos disease
MONDO:0011018	brachyolmia-amelogenesis imperfecta syndrome
MONDO:0011019	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
MONDO:0011020	osteoporosis-oculocutaneous hypopigmentation syndrome
MONDO:0011021	neuronal intestinal dysplasia, type B
MONDO:0011022	Potocki-Shaffer syndrome
MONDO:0011023	hereditary mixed polyposis syndrome
MONDO:0011024	dermatitis herpetiformis, familial
MONDO:0011025	Cayman type cerebellar ataxia
MONDO:0011026	autosomal recessive congenital ichthyosis 4A
MONDO:0011028	autosomal recessive limb-girdle muscular dystrophy type 2F
MONDO:0011031	autosomal dominant nonsyndromic deafness 10
MONDO:0011032	autosomal dominant nonsyndromic deafness 11
MONDO:0011034	odontomicronychial dysplasia
MONDO:0011035	neurofibromatosis-Noonan syndrome
MONDO:0011036	porencephaly-cerebellar hypoplasia-internal malformations syndrome
MONDO:0011037	renal dysplasia, cystic, susceptibility to
MONDO:0011038	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MONDO:0011039	atrophia maculosa varioliformis cutis, familial
MONDO:0011040	spinal dysplasia, Anhalt type
MONDO:0011041	ectodermal dysplasia with natal teeth, Turnpenny type
MONDO:0011042	Martinez-Frias syndrome
MONDO:0011043	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
MONDO:0011044	ectrodactyly of lower limbs, congenital heart defect, and micrognathia
MONDO:0011045	MMEP syndrome
MONDO:0011046	short stature, Brussels type
MONDO:0011047	deafness-epiphyseal dysplasia-short stature syndrome
MONDO:0011048	epilepsy-microcephaly-skeletal dysplasia syndrome
MONDO:0011049	fine-Lubinsky syndrome
MONDO:0011050	microcephaly-cardiac defect-lung malsegmentation syndrome
MONDO:0011051	lethal short-limb skeletal dysplasia, Al Gazali type
MONDO:0011052	amelia cleft lip palate hydrocephalus iris coloboma
MONDO:0011053	intellectual disability-sparse hair-brachydactyly syndrome
MONDO:0011054	autosomal recessive amelia
MONDO:0011055	distal monosomy 10p
MONDO:0011056	Wilms tumor 4
MONDO:0011058	autosomal dominant nonsyndromic deafness 9
MONDO:0011059	holoprosencephaly-craniosynostosis syndrome
MONDO:0011060	early-onset non-syndromic cataract
MONDO:0011061	chorea, remitting, with nystagmus and cataract
MONDO:0011062	aprosencephaly cerebellar dysgenesis
MONDO:0011063	hidrotic ectodermal dysplasia, Christianson-Fourie type
MONDO:0011064	lethal chondrodysplasia, Seller type
MONDO:0011065	Hunter-McAlpine craniosynostosis
MONDO:0011066	Charcot-Marie-Tooth disease type 4B1
MONDO:0011067	autosomal recessive nonsyndromic deafness 12
MONDO:0011069	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
MONDO:0011070	van Maldergem syndrome 1
MONDO:0011073	diabetes mellitus, transient neonatal, 1
MONDO:0011074	autosomal dominant nonsyndromic deafness 7
MONDO:0011075	retinitis pigmentosa 18
MONDO:0011076	myofibrillar myopathy 1
MONDO:0011077	microcephaly, corpus callosum dysgenesis, and cleft lip/palate
MONDO:0011078	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
MONDO:0011079	rhizomelic dysplasia, Patterson-Lowry type
MONDO:0011080	progressive deafness with stapes fixation
MONDO:0011081	dislocation of the hip-dysmorphism syndrome
MONDO:0011082	oculoauriculofrontonasal syndrome
MONDO:0011083	trichodental syndrome
MONDO:0011085	Charcot-Marie-Tooth disease type 4D
MONDO:0011086	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
MONDO:0011088	congenital myasthenic syndrome 1A
MONDO:0011089	patent ductus venosus
MONDO:0011091	Charcot-Marie-Tooth disease type 2D
MONDO:0011092	ribbing disease
MONDO:0011093	mucopolysaccharidosis type 9
MONDO:0011094	dilated cardiomyopathy 1C
MONDO:0011095	dilated cardiomyopathy 1D
MONDO:0011096	autosomal agammaglobulinemia
MONDO:0011097	Axenfeld-Rieger syndrome type 2
MONDO:0011098	prostate cancer, hereditary, 1
MONDO:0011099	human HOXA1 syndromes
MONDO:0011101	peroxisome biogenesis disorder 1B
MONDO:0011102	autosomal dominant nonsyndromic deafness 12
MONDO:0011103	autosomal dominant nonsyndromic deafness 3A
MONDO:0011104	cataract 3 multiple types
MONDO:0011105	alacrima, congenital, autosomal recessive
MONDO:0011106	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MONDO:0011107	congenital hypotrichosis with juvenile macular dystrophy
MONDO:0011108	Stüve-Wiedemann syndrome
MONDO:0011109	multiple epiphyseal dysplasia, Lowry type
MONDO:0011110	dyssegmental dysplasia-glaucoma syndrome
MONDO:0011112	Wilms tumor 5
MONDO:0011113	Charcot-Marie-Tooth disease type 4C
MONDO:0011114	familial multiple trichoepithelioma
MONDO:0011115	spastic paraplegia and Evans syndrome
MONDO:0011116	lung agenesis-heart defect-thumb anomalies syndrome
MONDO:0011117	iris pigment epithelium anomalies
MONDO:0011120	neural tube defects, folate-sensitive
MONDO:0011121	paragangliomas 2
MONDO:0011123	type 1 diabetes mellitus 15
MONDO:0011124	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
MONDO:0011125	trichothiodystrophy 1, photosensitive
MONDO:0011128	Sheldon-hall syndrome
MONDO:0011129	glaucoma type 1C
MONDO:0011130	sebaceous gland hyperplasia, familial presenile
MONDO:0011131	tricho-oculo-dermo-vertebral syndrome
MONDO:0011132	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
MONDO:0011133	deaf blind hypopigmentation syndrome, Yemenite type
MONDO:0011134	curry-Jones syndrome
MONDO:0011135	superior transverse scapular ligament, calcification of, familial
MONDO:0011136	Quebec platelet disorder
MONDO:0011137	retinitis pigmentosa 19
MONDO:0011139	preaxial hallucal polydactyly
MONDO:0011141	folate level in erythrocytes
MONDO:0011142	Ehlers-Danlos syndrome, musculocontractural type
MONDO:0011143	cone-rod dystrophy 6
MONDO:0011144	neuronal ceroid lipofuscinosis 6
MONDO:0011145	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
MONDO:0011146	tetrasomy 12p
MONDO:0011147	chromosome 18q deletion syndrome
MONDO:0011148	Spondylospinal thoracic dysostosis
MONDO:0011149	premature aging syndrome, Okamoto type
MONDO:0011150	acroosteolysis-keloid-like lesions-premature aging syndrome
MONDO:0011151	exudative vitreoretinopathy 4
MONDO:0011152	PHGDH deficiency
MONDO:0011153	hyperinsulinemic hypoglycemia, familial, 2
MONDO:0011154	acrofacial dysostosis, Palagonia type
MONDO:0011155	vacuolar Neuromyopathy
MONDO:0011156	progressive familial intrahepatic cholestasis type 2
MONDO:0011157	Gomez-Lopez-Hernandez syndrome
MONDO:0011158	autoimmune lymphoproliferative syndrome type 1
MONDO:0011159	autosomal dominant nonsyndromic deafness 13
MONDO:0011160	autosomal recessive nonsyndromic deafness 15
MONDO:0011162	cataract 14 multiple types
MONDO:0011163	malignant hyperthermia, susceptibility to, 5
MONDO:0011165	glomerulopathy with fibronectin deposits 2
MONDO:0011166	lymphedema-atrial septal defects-facial changes syndrome
MONDO:0011167	type 1 diabetes mellitus 6
MONDO:0011168	type 1 diabetes mellitus 10
MONDO:0011169	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
MONDO:0011170	autosomal recessive limb-girdle muscular dystrophy type 2G
MONDO:0011171	odonto-tricho-ungual-digito-palmar syndrome
MONDO:0011172	otofacioosseous-gonadal syndrome
MONDO:0011173	thrombocythemia 2
MONDO:0011174	hyperzincemia with functional zinc depletion
MONDO:0011175	Friedreich ataxia 2
MONDO:0011176	intestinal hypomagnesemia 1
MONDO:0011177	ectodermal dysplasia 4, hair/nail type
MONDO:0011178	infantile convulsions and choreoathetosis
MONDO:0011179	leishmaniasis, tegumentary, susceptibility to
MONDO:0011180	broad terminal phalanges, familial
MONDO:0011181	fibrosis of extraocular muscles, congenital, 2
MONDO:0011183	Paget disease of bone 2, early-onset
MONDO:0011184	childhood apraxia of speech
MONDO:0011185	Thiel-Behnke corneal dystrophy
MONDO:0011186	Usher syndrome type 1F
MONDO:0011187	polydactyly, postaxial, type A2
MONDO:0011188	arrhythmogenic right ventricular dysplasia 3
MONDO:0011189	arrhythmogenic right ventricular dysplasia 4
MONDO:0011190	nephronophthisis 2
MONDO:0011191	capillary infantile hemangioma
MONDO:0011192	autosomal recessive nonsyndromic deafness 18A
MONDO:0011193	cone dystrophy 3
MONDO:0011194	Alzheimer disease 5
MONDO:0011195	Usher syndrome type 1E
MONDO:0011196	amyotrophic lateral sclerosis type 5
MONDO:0011197	hereditary thermosensitive neuropathy
MONDO:0011198	spondyloepimetaphyseal dysplasia, Missouri type
MONDO:0011199	nephropathy, progressive tubulointerstitial, with cholestatic liver disease
MONDO:0011200	torsion dystonia 7
MONDO:0011201	tremor, hereditary essential, 2
MONDO:0011202	RHYNS syndrome
MONDO:0011203	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
MONDO:0011205	medium chain 3-ketoacyl-Coa thiolase deficiency
MONDO:0011206	ventriculomegaly with defects of the radius and kidney
MONDO:0011207	xanthomatosis, susceptibility to
MONDO:0011208	malignant atrophic papulosis
MONDO:0011209	progeroid facial appearance with hand anomalies
MONDO:0011211	axial spondylometaphyseal dysplasia
MONDO:0011213	Pierpont syndrome
MONDO:0011214	progressive familial intrahepatic cholestasis type 3
MONDO:0011215	osteocraniostenosis
MONDO:0011216	hemochromatosis type 2A
MONDO:0011217	desmosterolosis
MONDO:0011218	autosomal recessive congenital ichthyosis 11
MONDO:0011219	Fried's tooth and nail syndrome
MONDO:0011221	Weyers ulnar ray/oligodactyly syndrome
MONDO:0011223	amyotrophic lateral sclerosis type 4
MONDO:0011224	monomelic amyotrophy
MONDO:0011225	severe combined immunodeficiency due to DCLRE1C deficiency
MONDO:0011226	autosomal dominant nonsyndromic deafness 15
MONDO:0011227	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
MONDO:0011229	ethylmalonic encephalopathy
MONDO:0011230	ossification of the posterior longitudinal ligament of the spine
MONDO:0011231	febrile seizures, familial, 2
MONDO:0011232	migraine, familial hemiplegic, 2
MONDO:0011233	Axenfeld-Rieger syndrome type 3
MONDO:0011234	auriculocondylar syndrome 1
MONDO:0011235	pelvic dysplasia-arthrogryposis of lower limbs syndrome
MONDO:0011236	hyperinsulinism due to glucokinase deficiency
MONDO:0011239	colobomatous macrophthalmia-microcornea syndrome
MONDO:0011240	megalencephaly-capillary malformation-polymicrogyria syndrome
MONDO:0011242	Bartter disease type 4a
MONDO:0011243	grange syndrome
MONDO:0011244	Marshall-Smith syndrome
MONDO:0011245	ichthyosis, hystrix-like, with deafness
MONDO:0011246	megaconial type congenital muscular dystrophy
MONDO:0011248	distal monosomy 13q
MONDO:0011249	torsion dystonia with onset in infancy
MONDO:0011252	spondyloepimetaphyseal dysplasia, Shohat type
MONDO:0011255	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
MONDO:0011257	MPI-CDG
MONDO:0011258	branchiootic syndrome 1
MONDO:0011261	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
MONDO:0011262	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
MONDO:0011263	skeletal dysplasia and progressive central nervous system degeneration, lethal
MONDO:0011264	torsion dystonia 6
MONDO:0011266	myotonic dystrophy type 2
MONDO:0011268	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
MONDO:0011269	psoriasis 2
MONDO:0011271	rigid spine muscular dystrophy 1
MONDO:0011272	retinitis pigmentosa 25
MONDO:0011273	H syndrome
MONDO:0011274	Muenke syndrome
MONDO:0011275	acromesomelic dysplasia, Maroteaux type
MONDO:0011279	autosomal recessive nonsyndromic deafness 17
MONDO:0011281	congenital myasthenic syndrome 5
MONDO:0011283	mitochondrial DNA depletion syndrome 1
MONDO:0011285	age related macular degeneration 1
MONDO:0011286	autosomal recessive nonsyndromic deafness 13
MONDO:0011287	craniosynostosis-anal anomalies-porokeratosis syndrome
MONDO:0011291	congenital disorder of glycosylation type 1C
MONDO:0011292	dermatitis, atopic
MONDO:0011296	Meckel syndrome, type 2
MONDO:0011297	autosomal dominant nocturnal frontal lobe epilepsy 2
MONDO:0011299	Huntington disease-like 1
MONDO:0011300	myopia 3, autosomal dominant
MONDO:0011301	pseudohypoparathyroidism type 1B
MONDO:0011303	focal segmental glomerulosclerosis 1
MONDO:0011304	cerebral cavernous malformation 2
MONDO:0011305	cerebral cavernous malformation 3
MONDO:0011308	gracile syndrome
MONDO:0011309	familial gestational hyperthyroidism
MONDO:0011311	glaucoma 1, open angle, F
MONDO:0011313	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
MONDO:0011320	radioulnar synostosis-microcephaly-scoliosis syndrome
MONDO:0011323	arhinia, choanal atresia, and microphthalmia
MONDO:0011325	Fanconi anemia complementation group F
MONDO:0011326	citrullinemia, type II, adult-onset
MONDO:0011327	neuronal intranuclear inclusion disease
MONDO:0011329	cerebral palsy, spastic quadriplegic, 1
MONDO:0011330	spinocerebellar ataxia type 10
MONDO:0011332	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
MONDO:0011334	limb-mammary syndrome
MONDO:0011335	spondyloepimetaphyseal dysplasia with multiple dislocations
MONDO:0011336	familial hemophagocytic lymphohistiocytosis 4
MONDO:0011337	familial hemophagocytic lymphohistiocytosis 2
MONDO:0011338	Omenn syndrome
MONDO:0011339	hereditary spastic paraplegia 8
MONDO:0011340	congenital tracheal stenosis
MONDO:0011342	SLC35A1-CDG
MONDO:0011346	xanthinuria type II
MONDO:0011350	autosomal dominant nonsyndromic deafness 17
MONDO:0011351	autosomal recessive nonsyndromic deafness 21
MONDO:0011352	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
MONDO:0011355	cone-rod dystrophy 7
MONDO:0011359	acromelic frontonasal dysostosis
MONDO:0011360	autosomal recessive nonsyndromic deafness 14
MONDO:0011361	prostate cancer/brain cancer susceptibility
MONDO:0011362	myopathy, myofibrillar, 9, with early respiratory failure
MONDO:0011364	autosomal recessive nonsyndromic deafness 16
MONDO:0011365	blepharophimosis - intellectual disability syndrome, SBBYS type
MONDO:0011369	hypercholesterolemia, autosomal dominant, 3
MONDO:0011370	Stargardt disease 4
MONDO:0011374	hypercholesterolemia, familial, 4
MONDO:0011376	ventricular fibrillation, paroxysmal familial, type 1
MONDO:0011377	long QT syndrome 3
MONDO:0011379	medullary cystic kidney disease 2
MONDO:0011380	leukoencephalopathy with vanishing white matter
MONDO:0011381	dominant beta-thalassemia
MONDO:0011382	sickle cell anemia
MONDO:0011383	autoimmune lymphoproliferative syndrome type 2A
MONDO:0011389	autosomal dominant nonsyndromic deafness 16
MONDO:0011390	focal segmental glomerulosclerosis 2
MONDO:0011392	autosomal recessive nonsyndromic deafness 20
MONDO:0011393	hypoalphalipoproteinemia, primary, 1
MONDO:0011395	cone-rod dystrophy 3
MONDO:0011396	keratoderma hereditarium mutilans with ichthyosis
MONDO:0011397	autosomal dominant cerebellar ataxia, deafness and narcolepsy
MONDO:0011398	dystrophic epidermolysis bullosa pruriginosa
MONDO:0011399	alpha thalassemia
MONDO:0011400	dilated cardiomyopathy 1G
MONDO:0011402	congenital cataracts-facial dysmorphism-neuropathy syndrome
MONDO:0011403	left ventricular noncompaction 1
MONDO:0011405	poikiloderma with neutropenia
MONDO:0011407	facial paresis, hereditary congenital, 2
MONDO:0011408	hereditary spastic paraplegia 10
MONDO:0011411	Chudley-McCullough syndrome
MONDO:0011412	familial encephalopathy with neuroserpin inclusion bodies
MONDO:0011413	cataract 9 multiple types
MONDO:0011414	Peters anomaly
MONDO:0011415	Leber congenital amaurosis 3
MONDO:0011416	generalized epilepsy with febrile seizures plus, type 1
MONDO:0011417	hemochromatosis type 3
MONDO:0011420	short stature due to partial GHR deficiency
MONDO:0011421	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011422	autosomal recessive proximal renal tubular acidosis
MONDO:0011423	autosomal recessive limb-girdle muscular dystrophy type 2E
MONDO:0011424	Carney triad
MONDO:0011426	aceruloplasminemia
MONDO:0011428	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MONDO:0011429	juvenile idiopathic arthritis
MONDO:0011430	pulverulent cataract
MONDO:0011431	MASS syndrome
MONDO:0011432	blepharophimosis - intellectual disability syndrome, Verloes type
MONDO:0011435	microcephaly 2, primary, autosomal recessive, with or without cortical malformations
MONDO:0011436	autosomal recessive distal spinal muscular atrophy 1
MONDO:0011437	microcephaly 4, primary, autosomal recessive
MONDO:0011439	spinocerebellar ataxia type 12
MONDO:0011442	advanced sleep phase syndrome 1
MONDO:0011443	febrile seizures, familial, 4
MONDO:0011444	Duane retraction syndrome 2
MONDO:0011445	hereditary spastic paraplegia 11
MONDO:0011448	PPARG-related familial partial lipodystrophy
MONDO:0011449	Salla disease
MONDO:0011450	breast-ovarian cancer, familial, susceptibility to, 1
MONDO:0011451	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MONDO:0011452	hypotrichosis 7
MONDO:0011454	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
MONDO:0011456	nephronophthisis 3
MONDO:0011458	Leber congenital amaurosis 4
MONDO:0011459	arrhythmogenic right ventricular dysplasia 5
MONDO:0011460	arrhythmogenic right ventricular dysplasia 6
MONDO:0011461	generalized epilepsy with febrile seizures plus, type 2
MONDO:0011462	pyogenic arthritis-pyoderma gangrenosum-acne syndrome
MONDO:0011464	spinocerebellar ataxia type 11
MONDO:0011466	distal myopathy, Welander type
MONDO:0011468	hereditary motor and sensory neuropathy, Okinawa type
MONDO:0011469	congenital amegakaryocytic thrombocytopenia
MONDO:0011471	inflammatory bowel disease 3
MONDO:0011472	epidermolysis bullosa simplex due to plakophilin deficiency
MONDO:0011473	Leber congenital amaurosis 5
MONDO:0011474	progressive familial heart block type IB
MONDO:0011475	Charcot-Marie-Tooth disease type 4B2
MONDO:0011476	MHC class I deficiency
MONDO:0011477	tooth agenesis, selective, 3
MONDO:0011479	postural orthostatic tachycardia syndrome
MONDO:0011480	autosomal dominant nonsyndromic deafness 20
MONDO:0011481	craniosynostosis 2
MONDO:0011482	dilated cardiomyopathy 1I
MONDO:0011484	catecholaminergic polymorphic ventricular tachycardia 1
MONDO:0011485	autosomal recessive congenital ichthyosis 5
MONDO:0011486	congenital muscular dystrophy 1B
MONDO:0011487	Huntington disease-like 3
MONDO:0011488	microcephaly 3, primary, autosomal recessive
MONDO:0011489	hereditary spastic paraplegia 12
MONDO:0011490	diffuse panbronchiolitis
MONDO:0011491	epilepsy, idiopathic generalized, susceptibility to, 7
MONDO:0011493	Stickler syndrome type 2
MONDO:0011496	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
MONDO:0011497	hereditary North American Indian childhood cirrhosis
MONDO:0011499	Okamoto syndrome
MONDO:0011500	Becker nevus syndrome
MONDO:0011501	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
MONDO:0011502	Wolfram syndrome 2
MONDO:0011503	cortisone reductase deficiency 1
MONDO:0011504	NDE1-related microhydranencephaly
MONDO:0011505	familial hypobetalipoproteinemia 2
MONDO:0011506	familial infantile myoclonic epilepsy
MONDO:0011508	lymphoma, non-Hodgkin, familial
MONDO:0011510	Bohring-Opitz syndrome
MONDO:0011512	Brooke-Spiegler syndrome
MONDO:0011513	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
MONDO:0011514	tricuspid atresia
MONDO:0011517	pseudohyperaldosteronism type 2
MONDO:0011518	Wiedemann-Steiner syndrome
MONDO:0011519	autosomal dominant nonsyndromic deafness 23
MONDO:0011522	hereditary spastic paraplegia 14
MONDO:0011523	Bardet-Biedl syndrome 6
MONDO:0011527	Charcot-Marie-Tooth disease type 4E
MONDO:0011528	hyper-IgM syndrome type 2
MONDO:0011529	spinocerebellar ataxia type 13
MONDO:0011530	mesomelic dysplasia, Savarirayan type
MONDO:0011531	Noonan syndrome 2
MONDO:0011532	hereditary spastic paraplegia 13
MONDO:0011533	temtamy preaxial brachydactyly syndrome
MONDO:0011534	Charcot-Marie-Tooth disease type 4G
MONDO:0011535	split hand-foot malformation 4
MONDO:0011537	macrocephaly-autism syndrome
MONDO:0011538	frontoocular syndrome
MONDO:0011539	nemaline myopathy 5
MONDO:0011540	spinocerebellar ataxia type 14
MONDO:0011541	dilated cardiomyopathy 1J
MONDO:0011544	paragangliomas 3
MONDO:0011545	autosomal dominant nocturnal frontal lobe epilepsy 3
MONDO:0011546	heterotaxy, visceral, 2, autosomal
MONDO:0011547	cataract 31 multiple types
MONDO:0011548	cerebral palsy, ataxic, autosomal recessive
MONDO:0011549	hypotrichosis 1
MONDO:0011551	TH-deficient dopa-responsive dystonia
MONDO:0011552	schizophrenia 10
MONDO:0011553	autosomal recessive nonsyndromic deafness 26
MONDO:0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
MONDO:0011556	basal cell carcinoma, susceptibility to, 1
MONDO:0011558	Usher syndrome type 2C
MONDO:0011559	benign recurrent intrahepatic cholestasis type 2
MONDO:0011562	autosomal dominant Parkinson disease 4
MONDO:0011564	cone-rod dystrophy 8
MONDO:0011565	metabolic syndrome X
MONDO:0011566	abdominal obesity-metabolic syndrome quantitative trait locus 2
MONDO:0011568	autosomal dominant nonsyndromic deafness 25
MONDO:0011569	Charcot-Marie-Tooth disease type 2B1
MONDO:0011570	Charcot-Marie-Tooth disease type 2B2
MONDO:0011571	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
MONDO:0011575	cerebrooculonasal syndrome
MONDO:0011576	familial hyperaldosteronism type II
MONDO:0011577	myopathy, proximal, and ophthalmoplegia
MONDO:0011578	familial papillary thyroid carcinoma with renal papillary neoplasia
MONDO:0011579	late-onset retinal degeneration
MONDO:0011581	arrhythmogenic cardiomyopathy with woolly hair and keratoderma
MONDO:0011582	multiple mitochondrial dysfunctions syndrome 1
MONDO:0011583	cerebral amyloid angiopathy, APP-related
MONDO:0011584	Fanconi anemia complementation group D1
MONDO:0011585	autosomal recessive distal spinal muscular atrophy 2
MONDO:0011588	platelet-type bleeding disorder 12
MONDO:0011592	exudative vitreoretinopathy 3
MONDO:0011593	seizures, benign familial infantile, 2
MONDO:0011595	nonsyndromic congenital nail disorder 7
MONDO:0011599	birdshot chorioretinopathy
MONDO:0011600	congenital myasthenic syndrome 4A
MONDO:0011601	neonatal intrahepatic cholestasis due to citrin deficiency
MONDO:0011602	autosomal recessive nonsyndromic deafness 27
MONDO:0011603	GNE myopathy
MONDO:0011604	spondylo-ocular syndrome
MONDO:0011605	generalized basaloid follicular hamartoma syndrome
MONDO:0011610	dimethylglycine dehydrogenase deficiency
MONDO:0011612	glycine encephalopathy
MONDO:0011613	autosomal recessive early-onset Parkinson disease 6
MONDO:0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MONDO:0011621	acropectoral syndrome
MONDO:0011624	transaldolase deficiency
MONDO:0011625	autosomal dominant nonsyndromic deafness 18
MONDO:0011628	propionic acidemia
MONDO:0011629	MOGS-CDG
MONDO:0011630	retinitis pigmentosa 28
MONDO:0011631	hemochromatosis type 4
MONDO:0011632	amyotrophic lateral sclerosis type 21
MONDO:0011633	Charcot-Marie-Tooth disease axonal type 2C
MONDO:0011637	Sener syndrome
MONDO:0011638	neuroferritinopathy
MONDO:0011639	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
MONDO:0011640	genitopatellar syndrome
MONDO:0011646	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
MONDO:0011650	atrioventricular septal defect, susceptibility to, 2
MONDO:0011651	intellectual disability, short stature, facial anomalies, and joint dislocations
MONDO:0011652	Phelan-McDermid syndrome
MONDO:0011653	thyroid cancer, nonmedullary, 3
MONDO:0011654	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism
MONDO:0011655	alveolar soft part sarcoma
MONDO:0011656	paget disease of bone 4
MONDO:0011657	autosomal dominant nonsyndromic deafness 24
MONDO:0011658	autosomal recessive early-onset Parkinson disease 7
MONDO:0011660	autosomal dominant nonsyndromic deafness 22
MONDO:0011663	juvenile primary lateral sclerosis
MONDO:0011664	immunodeficiency due to CD25 deficiency
MONDO:0011667	maturity-onset diabetes of the young type 4
MONDO:0011668	maturity-onset diabetes of the young type 6
MONDO:0011669	hypotonia-cystinuria syndrome
MONDO:0011670	Ehlers-Danlos syndrome due to tenascin-X deficiency
MONDO:0011671	Huntington disease-like 2
MONDO:0011672	persistent polyclonal B-cell lymphocytosis
MONDO:0011673	autosomal dominant nonsyndromic deafness 30
MONDO:0011674	Charcot-Marie-Tooth disease dominant intermediate B
MONDO:0011675	Charcot-Marie-Tooth disease dominant intermediate A
MONDO:0011676	PHACE syndrome
MONDO:0011678	homozygous 11P15-p14 deletion syndrome
MONDO:0011680	autosomal recessive congenital ichthyosis 3
MONDO:0011681	episodic ataxia type 4
MONDO:0011682	episodic ataxia type 3
MONDO:0011683	oculocutaneous albinism type 4
MONDO:0011684	vitiligo-associated multiple autoimmune disease susceptibility 1
MONDO:0011686	DNA ligase IV deficiency
MONDO:0011687	Charcot-Marie-Tooth disease axonal type 2F
MONDO:0011688	muscular dystrophy-dystroglycanopathy type B5
MONDO:0011690	Camurati-Engelmann disease, type 2
MONDO:0011691	amyotrophic lateral sclerosis type 3
MONDO:0011694	spinocerebellar ataxia type 15/16
MONDO:0011698	glycine N-methyltransferase deficiency
MONDO:0011702	dilated cardiomyopathy 1L
MONDO:0011703	spongiform encephalopathy with neuropsychiatric features
MONDO:0011706	Kufor-Rakeb syndrome
MONDO:0011707	familial dyskinesia and facial myokymia
MONDO:0011708	autosomal dominant nonsyndromic deafness 36
MONDO:0011710	specific language impairment 1
MONDO:0011711	specific language impairment 2
MONDO:0011712	van der Woude syndrome 2
MONDO:0011713	melanoma-pancreatic cancer syndrome
MONDO:0011714	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
MONDO:0011715	Seckel syndrome 2
MONDO:0011717	hyperinsulinism-hyperammonemia syndrome
MONDO:0011718	primary ciliary dyskinesia 2
MONDO:0011719	gastrointestinal stromal tumor
MONDO:0011720	spermatogenic failure 3
MONDO:0011721	distal myopathy with anterior tibial onset
MONDO:0011722	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
MONDO:0011724	encephalopathy due to GLUT1 deficiency
MONDO:0011725	Crigler-Najjar syndrome type 2
MONDO:0011728	blepharospasm
MONDO:0011730	fumaric aciduria
MONDO:0011731	glucose-galactose malabsorption
MONDO:0011732	familial digital arthropathy-brachydactyly
MONDO:0011733	parasomnia, sleep bruxism type
MONDO:0011734	Cardioneuromyopathy with hyaline masses and nemaline rods
MONDO:0011735	hyper-IgM syndrome type 3
MONDO:0011736	Cree intellectual disability syndrome
MONDO:0011738	bilateral frontoparietal polymicrogyria
MONDO:0011740	Carney-Stratakis syndrome
MONDO:0011743	Alzheimer disease 4
MONDO:0011744	primary intraosseous venous malformation
MONDO:0011746	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
MONDO:0011748	Usher syndrome type 1G
MONDO:0011749	oculocutaneous albinism type 1B
MONDO:0011751	COPD, severe early onset
MONDO:0011752	nephronophthisis 4
MONDO:0011755	senior-loken syndrome 3
MONDO:0011756	Senior-Loken syndrome 4
MONDO:0011757	brachydactyly type A1B
MONDO:0011758	Hurler syndrome
MONDO:0011759	Hurler-Scheie syndrome
MONDO:0011760	Scheie syndrome
MONDO:0011761	autosomal dominant nonsyndromic deafness 21
MONDO:0011762	autosomal recessive nonsyndromic deafness 22
MONDO:0011764	autosomal dominant Parkinson disease 8
MONDO:0011765	multiple epiphyseal dysplasia type 5
MONDO:0011766	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
MONDO:0011767	autosomal recessive nonsyndromic deafness 31
MONDO:0011771	distal spinal muscular atrophy type 3
MONDO:0011772	B4GALT1-CDG
MONDO:0011774	autosomal recessive nonsyndromic deafness 30
MONDO:0011775	nasopharyngeal carcinoma, susceptibility to, 1
MONDO:0011776	CINCA syndrome
MONDO:0011778	multiple epiphyseal dysplasia, Al-Gazali type
MONDO:0011781	spinocerebellar ataxia type 17
MONDO:0011783	ALG12-CDG
MONDO:0011784	Moyamoya disease 2
MONDO:0011785	hereditary spastic paraplegia 19
MONDO:0011787	autosomal recessive limb-girdle muscular dystrophy type 2I
MONDO:0011788	cloverleaf skull-multiple congenital anomalies syndrome
MONDO:0011789	familial meningioma
MONDO:0011790	Amish lethal microcephaly
MONDO:0011792	thyroid dyshormonogenesis 6
MONDO:0011795	anonychia-microcephaly syndrome
MONDO:0011797	infantile-onset ascending hereditary spastic paralysis
MONDO:0011798	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
MONDO:0011799	autosomal recessive nonsyndromic deafness 33
MONDO:0011801	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
MONDO:0011803	hereditary spastic paraplegia 7
MONDO:0011804	autoimmune lymphoproliferative syndrome type 2B
MONDO:0011806	osteofibrous dysplasia
MONDO:0011810	horizontal gaze palsy with progressive scoliosis
MONDO:0011811	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
MONDO:0011812	Duane-radial ray syndrome
MONDO:0011814	Smith-McCort dysplasia 1
MONDO:0011816	lathosterolosis
MONDO:0011818	isolated focal cortical dysplasia type II
MONDO:0011819	spinocerebellar ataxia type 19/22
MONDO:0011821	Meckel syndrome, type 3
MONDO:0011822	Bartter disease type 3
MONDO:0011823	developmental malformations-deafness-dystonia syndrome
MONDO:0011826	glucocorticoid deficiency 2
MONDO:0011828	intellectual disability, autosomal recessive 2
MONDO:0011829	coenzyme Q10 deficiency, primary, 1
MONDO:0011830	lissencephaly due to LIS1 mutation
MONDO:0011831	arrhythmogenic right ventricular dysplasia 8
MONDO:0011832	autosomal dominant nonsyndromic deafness 44
MONDO:0011833	spinocerebellar ataxia type 21
MONDO:0011834	spinocerebellar ataxia type 18
MONDO:0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MONDO:0011837	vitamin K-dependent clotting factors, combined deficiency of, type 2
MONDO:0011838	Bothnia retinal dystrophy
MONDO:0011839	Newfoundland cone-rod dystrophy
MONDO:0011840	dilated cardiomyopathy 1M
MONDO:0011841	biotin-responsive basal ganglia disease
MONDO:0011842	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
MONDO:0011843	hypertrophic cardiomyopathy 25
MONDO:0011844	myoclonic dystonia 15
MONDO:0011846	bulimia nervosa, susceptibility to, 1
MONDO:0011849	psoriatic arthritis
MONDO:0011851	migraine with or without aura, susceptibility to, 6
MONDO:0011852	nonsyndromic congenital nail disorder 8
MONDO:0011853	Camptosynpolydactyly, complex
MONDO:0011855	granular corneal dystrophy type II
MONDO:0011857	atrial fibrillation, familial, 3
MONDO:0011858	spastic paraplegia, ataxia, and intellectual disability
MONDO:0011861	breath-holding Spells
MONDO:0011862	hereditary spastic paraplegia 24
MONDO:0011864	immunodeficiency, common variable, 1
MONDO:0011866	pontocerebellar hypoplasia type 1A
MONDO:0011867	microphthalmia with cyst, bilateral facial clefts, and limb anomalies
MONDO:0011868	lethal congenital contracture syndrome 2
MONDO:0011870	annular epidermolytic ichthyosis
MONDO:0011871	Niemann-Pick disease type B
MONDO:0011872	Griscelli syndrome type 2
MONDO:0011873	Niemann-Pick disease, type C2
MONDO:0011874	neonatal ichthyosis-sclerosing cholangitis syndrome
MONDO:0011875	epilepsy, idiopathic generalized, susceptibility to, 11
MONDO:0011876	juvenile absence epilepsy
MONDO:0011877	autosomal dominant osteopetrosis 1
MONDO:0011879	neuronopathy, distal hereditary motor, type 7B
MONDO:0011880	candidiasis, familial, 3
MONDO:0011881	keratosis palmoplantaris striata 3
MONDO:0011882	skin fragility-woolly hair-palmoplantar keratoderma syndrome
MONDO:0011885	tubulointerstitial nephritis and uveitis syndrome
MONDO:0011886	torsion dystonia 13
MONDO:0011887	cataract, congenital, with mental impairment and dentate gyrus atrophy
MONDO:0011888	immunodeficiency 67
MONDO:0011889	Charcot-Marie-Tooth disease type 2I
MONDO:0011890	Charcot-Marie-Tooth disease type 1D
MONDO:0011891	febrile seizures, familial, 8
MONDO:0011892	epilepsy, idiopathic generalized, susceptibility to, 9
MONDO:0011893	autosomal dominant nonsyndromic deafness 52
MONDO:0011894	Charcot-Marie-Tooth disease type 2E
MONDO:0011895	idiopathic hypereosinophilic syndrome
MONDO:0011896	Parkinson disease 11, autosomal dominant, susceptibility to
MONDO:0011897	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
MONDO:0011898	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
MONDO:0011899	Noonan syndrome-like disorder with loose anagen hair
MONDO:0011901	Charcot-Marie-Tooth disease axonal type 2H
MONDO:0011902	Charcot-Marie-Tooth disease type 1F
MONDO:0011903	Charcot-Marie-Tooth disease type 2J
MONDO:0011904	seizures, benign familial infantile, 3
MONDO:0011906	congenital bile acid synthesis defect 1
MONDO:0011907	acrocapitofemoral dysplasia
MONDO:0011908	juvenile myelomonocytic leukemia
MONDO:0011909	Charcot-Marie-Tooth disease dominant intermediate D
MONDO:0011911	craniolenticulosutural dysplasia
MONDO:0011912	autosomal recessive nonsyndromic deafness 37
MONDO:0011913	Alzheimer disease 3
MONDO:0011914	hypotrichosis-lymphedema-telangiectasia syndrome
MONDO:0011915	mitral valve prolapse, myxomatous 2
MONDO:0011916	Charcot-Marie-Tooth disease axonal type 2K
MONDO:0011917	focal segmental glomerulosclerosis 3, susceptibility to
MONDO:0011920	autosomal dominant nonsyndromic deafness 48
MONDO:0011921	aural atresia, congenital
MONDO:0011922	nonimmune chronic idiopathic neutropenia of adults
MONDO:0011925	congenital merosin-deficient muscular dystrophy 1A
MONDO:0011927	tufted angioma
MONDO:0011928	caudal duplication
MONDO:0011929	chromosome 1p36 deletion syndrome
MONDO:0011930	epilepsy, familial adult myoclonic, 2
MONDO:0011932	hypotrichosis 6
MONDO:0011933	ALG2-CDG
MONDO:0011934	dermatofibrosarcoma protuberans
MONDO:0011935	retinitis pigmentosa 30
MONDO:0011936	microphthalmia with brain and digit anomalies
MONDO:0011937	peeling skin syndrome 4
MONDO:0011938	atrial septal defect 2
MONDO:0011939	Spondyloenchondrodysplasia with immune dysregulation
MONDO:0011945	Gaucher disease perinatal lethal
MONDO:0011946	diaphanospondylodysostosis
MONDO:0011948	pontocerebellar hypoplasia type 3
MONDO:0011949	Thai symphalangism syndrome
MONDO:0011950	infantile-onset autosomal recessive nonprogressive cerebellar ataxia
MONDO:0011951	amyotrophic lateral sclerosis type 6
MONDO:0011953	familial acute necrotizing encephalopathy
MONDO:0011957	retinal macular dystrophy type 2
MONDO:0011959	sweet syndrome
MONDO:0011961	hereditary sensory and autonomic neuropathy type 1B
MONDO:0011962	endometrial cancer
MONDO:0011963	Joubert syndrome 2
MONDO:0011964	DPAGT1-CDG
MONDO:0011965	familial temporal lobe epilepsy 2
MONDO:0011966	periventricular heterotopia with microcephaly, autosomal recessive
MONDO:0011968	autosomal recessive limb-girdle muscular dystrophy type 2D
MONDO:0011969	ALG8-CDG
MONDO:0011970	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
MONDO:0011971	hyper-IgM syndrome type 5
MONDO:0011972	ovarian hyperstimulation syndrome
MONDO:0011973	zinc deficiency, transient neonatal
MONDO:0011974	retinitis pigmentosa 7
MONDO:0011975	paternal uniparental disomy of chromosome 14
MONDO:0011976	lipodystrophy-intellectual disability-deafness syndrome
MONDO:0011977	8q22.1 microdeletion syndrome
MONDO:0011979	adult-onset foveomacular vitelliform dystrophy
MONDO:0011984	synpolydactyly type 2
MONDO:0011985	hyper-IgM syndrome type 4
MONDO:0011986	tropical pancreatitis
MONDO:0011987	cone-rod dystrophy 13
MONDO:0011988	neutrophil immunodeficiency syndrome
MONDO:0011989	leishmaniasis
MONDO:0011990	seizures, benign familial neonatal, 3
MONDO:0011991	autosomal recessive nonsyndromic deafness 38
MONDO:0011992	hereditary spastic paraplegia 25
MONDO:0011994	autosomal dominant nonsyndromic deafness 41
MONDO:0011995	cataract - congenital heart disease - neural tube defect syndrome
MONDO:0011996	chronic myelogenous leukemia, BCR-ABL1 positive
MONDO:0011997	Hermansky-Pudlak syndrome 2
MONDO:0011998	autosomal dominant slowed nerve conduction velocity
MONDO:0011999	otosclerosis 3
MONDO:0012001	mandibulofacial dysostosis with ptosis, autosomal dominant
MONDO:0012002	autosomal recessive nonsyndromic deafness 40
MONDO:0012003	autosomal recessive nonsyndromic deafness 39
MONDO:0012004	parathyroid gland carcinoma
MONDO:0012005	growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
MONDO:0012006	craniosynostosis with ocular abnormalities and hallucal defects
MONDO:0012008	Lelis syndrome
MONDO:0012011	coronary artery disease, autosomal dominant, 1
MONDO:0012012	Charcot-Marie-Tooth disease dominant intermediate C
MONDO:0012013	glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
MONDO:0012014	Charcot-Marie-Tooth disease recessive intermediate A
MONDO:0012015	nystagmus 3, congenital, autosomal dominant
MONDO:0012016	capillary malformation-arteriovenous malformation syndrome
MONDO:0012017	Parkes Weber syndrome
MONDO:0012018	myopathy, myosin storage, autosomal dominant
MONDO:0012019	spondyloepiphyseal dysplasia, Kimberley type
MONDO:0012020	chromosome 22q11.2 microduplication syndrome
MONDO:0012021	myopia 17, autosomal dominant
MONDO:0012023	autosomal dominant nonsyndromic deafness 49
MONDO:0012024	retinitis pigmentosa 26
MONDO:0012025	branchiootic syndrome 3
MONDO:0012029	microcephaly 6, primary, autosomal recessive
MONDO:0012030	autosomal dominant nonsyndromic deafness 43
MONDO:0012031	platelet-type bleeding disorder 10
MONDO:0012032	Braddock syndrome
MONDO:0012033	bradyopsia
MONDO:0012034	autosomal dominant limb-girdle muscular dystrophy type 1F
MONDO:0012035	craniosynostosis-intracranial calcifications syndrome
MONDO:0012037	intellectual disability, autosomal recessive 3
MONDO:0012041	MUTYH-related attenuated familial adenomatous polyposis
MONDO:0012043	Reis-Bucklers corneal dystrophy
MONDO:0012044	corneal dystrophy, lattice type 3A
MONDO:0012045	myopia 5, autosomal dominant
MONDO:0012046	congenital corneal opacities, cornea guttata, and corectopia
MONDO:0012052	ALG1-CDG
MONDO:0012053	aneurysm, intracranial berry, 2
MONDO:0012055	Larsen-like osseous dysplasia-short stature syndrome
MONDO:0012056	Leber congenital amaurosis 9
MONDO:0012060	autosomal recessive nonsyndromic deafness 35
MONDO:0012062	dilated cardiomyopathy 1O
MONDO:0012063	ulnar/fibula ray defect-brachydactyly syndrome
MONDO:0012064	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
MONDO:0012066	atrial fibrillation, familial, 1
MONDO:0012071	congenital generalized lipodystrophy type 1
MONDO:0012072	familial partial lipodystrophy, Kobberling type
MONDO:0012073	ribose-5-P isomerase deficiency
MONDO:0012074	mandibuloacral dysplasia with type B lipodystrophy
MONDO:0012075	oligodontia-cancer predisposition syndrome
MONDO:0012076	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
MONDO:0012077	amyotrophic lateral sclerosis type 8
MONDO:0012078	Joubert syndrome 3
MONDO:0012079	asperger syndrome, susceptibility to, 2
MONDO:0012080	neuronopathy, distal hereditary motor, type 2B
MONDO:0012081	15q11q13 microduplication syndrome
MONDO:0012082	asperger syndrome, susceptibility to, 1
MONDO:0012083	autosomal dominant nonsyndromic deafness 28
MONDO:0012084	aromatic L-amino acid decarboxylase deficiency
MONDO:0012085	primary ciliary dyskinesia 3
MONDO:0012086	autosomal dominant nonsyndromic deafness 31
MONDO:0012088	primary ciliary dyskinesia 5
MONDO:0012089	ichthyosis prematurity syndrome
MONDO:0012090	autosomal dominant nonsyndromic deafness 47
MONDO:0012091	autosomal recessive nonsyndromic deafness 32
MONDO:0012092	hereditary sensory and autonomic neuropathy type 5
MONDO:0012095	intellectual disability-brachydactyly-Pierre Robin syndrome
MONDO:0012096	Charcot-Marie-Tooth disease axonal type 2L
MONDO:0012097	spondylocostal dysostosis 2, autosomal recessive
MONDO:0012098	spinocerebellar ataxia type 20
MONDO:0012099	AICA-ribosiduria
MONDO:0012103	spinocerebellar ataxia type 25
MONDO:0012104	acquired partial lipodystrophy
MONDO:0012105	granulomatosis with polyangiitis
MONDO:0012106	microcephaly 5, primary, autosomal recessive
MONDO:0012107	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
MONDO:0012108	spondyloepimetaphyseal dysplasia, matrilin-3 type
MONDO:0012110	growth delay due to insulin-like growth factor type 1 deficiency
MONDO:0012111	hypertrophic cardiomyopathy 8
MONDO:0012112	hypertrophic cardiomyopathy 10
MONDO:0012113	epilepsy, idiopathic generalized, susceptibility to, 3
MONDO:0012114	Ehlers-Danlos syndrome, Beasley-Cohen type
MONDO:0012116	spinocerebellar ataxia type 8
MONDO:0012117	ALG9-CDG
MONDO:0012118	COG7-CDG
MONDO:0012120	pyruvate dehydrogenase phosphatase deficiency
MONDO:0012123	congenital disorder of glycosylation type 1E
MONDO:0012124	sudden infant death-dysgenesis of the testes syndrome
MONDO:0012125	hypomyelinating leukodystrophy 2
MONDO:0012126	familial avascular necrosis of femoral head
MONDO:0012127	autosomal recessive limb-girdle muscular dystrophy type 2J
MONDO:0012128	dextro-looped transposition of the great arteries 1
MONDO:0012129	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
MONDO:0012130	myofibrillar myopathy 2
MONDO:0012136	carnitine palmitoyl transferase II deficiency, neonatal form
MONDO:0012137	Carney complex - trismus - pseudocamptodactyly syndrome
MONDO:0012138	muscular dystrophy-dystroglycanopathy type B6
MONDO:0012139	macular dystrophy, retinal, 3
MONDO:0012141	orofacial cleft 6, susceptibility to
MONDO:0012142	orofacial cleft 5
MONDO:0012143	hereditary cryohydrocytosis with reduced stomatin
MONDO:0012144	Waardenburg syndrome type 2D
MONDO:0012145	macular degeneration, age-related, 3
MONDO:0012146	familial hemophagocytic lymphohistiocytosis 3
MONDO:0012154	myopia 6
MONDO:0012155	choanal atresia
MONDO:0012156	myasthenic syndrome, congenital, 1B, fast-channel
MONDO:0012157	congenital myasthenic syndrome 4C
MONDO:0012160	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MONDO:0012161	susceptibility to respiratory infections associated with CD8alpha chain mutation
MONDO:0012162	patterned macular dystrophy 2
MONDO:0012163	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
MONDO:0012164	Meacham syndrome
MONDO:0012165	BNAR syndrome
MONDO:0012166	autosomal dominant sensory ataxia 1
MONDO:0012168	dyslexia, susceptibility to, 8
MONDO:0012169	premature ovarian failure 3
MONDO:0012170	autosomal recessive nonsyndromic deafness 36
MONDO:0012171	marfanoid habitus with situs inversus
MONDO:0012172	mitochondrial trifunctional protein deficiency
MONDO:0012173	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0012174	peripheral cone dystrophy
MONDO:0012176	Emanuel syndrome
MONDO:0012177	posterior column ataxia-retinitis pigmentosa syndrome
MONDO:0012178	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature
MONDO:0012179	narcolepsy 3
MONDO:0012180	arrhythmogenic right ventricular dysplasia 9
MONDO:0012181	hereditary spastic paraplegia 27
MONDO:0012183	melanoma, cutaneous malignant, susceptibility to, 3
MONDO:0012184	Pierson syndrome
MONDO:0012185	spondylometaphyseal dysplasia, A4 type
MONDO:0012186	Fanconi anemia complementation group I
MONDO:0012187	Fanconi anemia complementation group J
MONDO:0012188	neuronal ceroid lipofuscinosis 9
MONDO:0012190	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome
MONDO:0012191	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
MONDO:0012192	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
MONDO:0012193	autosomal dominant limb-girdle muscular dystrophy type 1G
MONDO:0012194	aneurysm, intracranial berry, 3
MONDO:0012195	arthrogryposis-severe scoliosis syndrome
MONDO:0012196	autosomal dominant auditory neuropathy 1
MONDO:0012197	idiopathic aplastic anemia
MONDO:0012198	PCWH syndrome
MONDO:0012199	posterior polymorphous corneal dystrophy 2
MONDO:0012200	posterior polymorphous corneal dystrophy 3
MONDO:0012203	familial hyperthyroidism due to mutations in TSH receptor
MONDO:0012204	familial pseudohyperkalemia
MONDO:0012205	autosomal dominant striatal neurodegeneration type 1
MONDO:0012206	Czech dysplasia, metatarsal type
MONDO:0012208	congenital reticular ichthyosiform erythroderma
MONDO:0012209	branchiogenic deafness syndrome
MONDO:0012211	MPDU1-CDG
MONDO:0012212	Loeys-Dietz syndrome 1
MONDO:0012213	hereditary spastic paraplegia 26
MONDO:0012214	glucocorticoid deficiency 3
MONDO:0012215	myofibrillar myopathy 3
MONDO:0012216	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
MONDO:0012217	Bruck syndrome 2
MONDO:0012218	dandy-walker malformation with occipital cephalocele, autosomal dominant
MONDO:0012219	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
MONDO:0012220	Griscelli syndrome type 3
MONDO:0012221	alpha-N-acetylgalactosaminidase deficiency type 1
MONDO:0012222	alpha-N-acetylgalactosaminidase deficiency type 2
MONDO:0012224	febrile seizures, familial, 6
MONDO:0012225	Senior-Loken syndrome 5
MONDO:0012226	febrile seizures, familial, 5
MONDO:0012227	myopia 7
MONDO:0012228	myopia 8
MONDO:0012229	myopia 9
MONDO:0012230	myopia 10
MONDO:0012231	Charcot-Marie-Tooth disease type 2A2
MONDO:0012233	Li-Fraumeni syndrome 2
MONDO:0012235	autosomal recessive spinocerebellar ataxia 7
MONDO:0012237	nemaline myopathy 6
MONDO:0012238	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
MONDO:0012239	nemaline myopathy 1
MONDO:0012240	nemaline myopathy 4
MONDO:0012241	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
MONDO:0012242	syncope, familial vasovagal
MONDO:0012245	developmental and epileptic encephalopathy, 3
MONDO:0012246	spinocerebellar ataxia type 26
MONDO:0012247	spinocerebellar ataxia type 27
MONDO:0012248	autosomal recessive limb-girdle muscular dystrophy type 2K
MONDO:0012249	colorectal cancer, hereditary nonpolyposis, type 2
MONDO:0012250	Charcot-Marie-Tooth disease type 4H
MONDO:0012251	MEDNIK syndrome
MONDO:0012252	rhabdoid tumor predisposition syndrome 1
MONDO:0012253	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
MONDO:0012254	multiple epiphyseal dysplasia, with miniepiphyses
MONDO:0012256	hereditary spastic paraplegia 28
MONDO:0012258	epidermolysis bullosa simplex with circinate migratory erythema
MONDO:0012260	cataract 35
MONDO:0012262	fibrosis of extraocular muscles, congenital, 3c
MONDO:0012266	preeclampsia/eclampsia 4
MONDO:0012269	chromosome 3q29 microdeletion syndrome
MONDO:0012270	Tukel syndrome
MONDO:0012271	mesoaxial synostotic syndactyly with phalangeal reduction
MONDO:0012272	intellectual disability, keratoconus, febrile seizures, and sinoatrial block
MONDO:0012273	autosomal recessive nonsyndromic deafness 48
MONDO:0012274	acromesomelic dysplasia, Demirhan type
MONDO:0012275	fetal valproate syndrome
MONDO:0012276	generalized epilepsy-paroxysmal dyskinesia syndrome
MONDO:0012277	myofibrillar myopathy 4
MONDO:0012278	supranuclear palsy, progressive, 2
MONDO:0012279	congenital muscular dystrophy merosin-positive
MONDO:0012280	Goldberg-Shprintzen megacolon syndrome
MONDO:0012282	Al-Gazali syndrome
MONDO:0012286	myopathy, autophagic vacuolar, infantile-onset
MONDO:0012287	Stickler syndrome, type I, nonsyndromic ocular
MONDO:0012289	myofibrillar myopathy 5
MONDO:0012290	CEDNIK syndrome
MONDO:0012291	immunoglobulin A deficiency 2
MONDO:0012293	autosomal recessive nonsyndromic deafness 23
MONDO:0012295	complement component 5 deficiency
MONDO:0012297	SPOAN syndrome
MONDO:0012299	nanophthalmos 2
MONDO:0012301	mitochondrial DNA depletion syndrome, myopathic form
MONDO:0012302	parietal foramina 3
MONDO:0012307	familial scaphocephaly syndrome, McGillivray type
MONDO:0012308	Joubert syndrome with renal defect
MONDO:0012309	parietal foramina 2
MONDO:0012310	fibrosis of extraocular muscles, congenital, with synergistic divergence
MONDO:0012311	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
MONDO:0012312	short QT syndrome type 1
MONDO:0012313	short QT syndrome type 2
MONDO:0012314	short QT syndrome type 3
MONDO:0012315	distal 10q deletion syndrome
MONDO:0012316	Majeed syndrome
MONDO:0012320	migraine, familial hemiplegic, 3
MONDO:0012321	Alzheimer disease 10
MONDO:0012322	holoprosencephaly 5
MONDO:0012323	lethal acantholytic epidermolysis bullosa
MONDO:0012324	Frias syndrome
MONDO:0012326	autosomal recessive nonsyndromic deafness 42
MONDO:0012327	autosomal recessive nonsyndromic deafness 46
MONDO:0012328	trichilemmal cyst
MONDO:0012329	short stature and Facioauriculothoracic malformations
MONDO:0012330	talo-patello-scaphoid osteolysis
MONDO:0012332	short stature-delayed bone age due to thyroid hormone metabolism deficiency
MONDO:0012333	autosomal recessive nonsyndromic deafness 53
MONDO:0012334	hereditary spastic paraplegia 29
MONDO:0012335	obesity due to pro-opiomelanocortin deficiency
MONDO:0012336	cataract 22 multiple types
MONDO:0012342	7q11.23 microduplication syndrome
MONDO:0012345	acral peeling skin syndrome
MONDO:0012346	generalized epilepsy with febrile seizures plus, type 4
MONDO:0012347	hamartoma, Precalcaneal congenital fibrolipomatous
MONDO:0012348	maturity-onset diabetes of the young type 8
MONDO:0012349	spondylocostal dysostosis 3, autosomal recessive
MONDO:0012350	complement factor H deficiency
MONDO:0012353	erythrocytosis, familial, 3
MONDO:0012354	platelet-type bleeding disorder 8
MONDO:0012355	autosomal recessive nonsyndromic deafness 28
MONDO:0012356	glomerulocystic kidney disease with hyperuricemia and isosthenuria
MONDO:0012357	glaucoma 1, open angle, G
MONDO:0012359	combined immunodeficiency due to partial RAG1 deficiency
MONDO:0012362	dilated cardiomyopathy 1P
MONDO:0012363	retinitis pigmentosa 32
MONDO:0012367	retinitis pigmentosa 31
MONDO:0012368	aminoacylase 1 deficiency
MONDO:0012370	autosomal recessive nonsyndromic deafness 51
MONDO:0012371	Noonan syndrome 3
MONDO:0012373	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
MONDO:0012374	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
MONDO:0012375	autosomal recessive nonsyndromic deafness 47
MONDO:0012376	autosomal recessive nonsyndromic deafness 55
MONDO:0012380	autosomal dominant nonsyndromic deafness 53
MONDO:0012381	hyperinsulinism due to INSR deficiency
MONDO:0012382	hyperinsulinemic hypoglycemia, familial, 4
MONDO:0012383	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
MONDO:0012387	osteosclerosis-ichthyosis-premature ovarian failure syndrome
MONDO:0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant
MONDO:0012392	2-methylbutyryl-CoA dehydrogenase deficiency
MONDO:0012393	congenital brain dysgenesis due to glutamine synthetase deficiency
MONDO:0012394	multiple synostoses syndrome 2
MONDO:0012395	cataract 18
MONDO:0012396	exercise-induced hyperinsulinism
MONDO:0012397	brachydactyly, coloboma, and anterior segment dysgenesis
MONDO:0012398	retinal cone dystrophy 3A
MONDO:0012399	complex cortical dysplasia with other brain malformations 7
MONDO:0012400	cortical dysplasia-focal epilepsy syndrome
MONDO:0012401	congenital stromal corneal dystrophy
MONDO:0012405	polyposis syndrome, hereditary mixed, 2
MONDO:0012407	pyridoxal phosphate-responsive seizures
MONDO:0012408	microphthalmia, isolated, with coloboma 3
MONDO:0012409	isolated microphthalmia 2
MONDO:0012410	Finnish upper limb-onset distal myopathy
MONDO:0012411	giant axonal neuropathy 2
MONDO:0012412	complement component 7 deficiency
MONDO:0012413	syndromic microphthalmia type 5
MONDO:0012414	neuronal ceroid lipofuscinosis 10
MONDO:0012415	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
MONDO:0012417	heart-hand syndrome, Slovenian type
MONDO:0012418	autosomal recessive nonsyndromic deafness 62
MONDO:0012420	autosomal recessive nonsyndromic deafness 49
MONDO:0012421	autosomal recessive nonsyndromic deafness 44
MONDO:0012423	MORM syndrome
MONDO:0012425	corneal dystrophy, fuchs endothelial, 2
MONDO:0012426	immunodeficiency 25
MONDO:0012427	Loeys-Dietz syndrome 2
MONDO:0012429	Aicardi-Goutieres syndrome 2
MONDO:0012430	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
MONDO:0012431	diaphragmatic hernia 3
MONDO:0012432	Joubert syndrome 5
MONDO:0012433	Senior-Loken syndrome 6
MONDO:0012434	arrhythmogenic right ventricular dysplasia 10
MONDO:0012435	3-methylglutaconic aciduria type 5
MONDO:0012436	neonatal diabetes mellitus with congenital hypothyroidism
MONDO:0012437	cataract 21 multiple types
MONDO:0012438	pontocerebellar hypoplasia type 5
MONDO:0012439	Alagille syndrome due to a NOTCH2 point mutation
MONDO:0012442	autosomal recessive nonsyndromic deafness 66
MONDO:0012444	neurodegeneration with brain iron accumulation 2B
MONDO:0012445	autosomal recessive nonsyndromic deafness 59
MONDO:0012446	seborrhea-like dermatitis with psoriasiform elements
MONDO:0012448	hereditary spastic paraplegia 33
MONDO:0012449	spinocerebellar ataxia type 23
MONDO:0012450	spinocerebellar ataxia type 28
MONDO:0012451	esophagitis, eosinophilic, 1
MONDO:0012452	autosomal recessive nonsyndromic deafness 65
MONDO:0012453	hereditary spastic paraplegia 31
MONDO:0012454	alcohol sensitivity, acute
MONDO:0012455	Kleefstra syndrome
MONDO:0012456	congenital primary aphakia
MONDO:0012460	autosomal recessive nonsyndromic deafness 67
MONDO:0012462	autosomal recessive frontotemporal pachygyria
MONDO:0012463	retinitis pigmentosa 35
MONDO:0012464	cone-rod dystrophy 10
MONDO:0012465	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
MONDO:0012466	Parkinson disease 13, autosomal dominant, susceptibility to
MONDO:0012467	cold-induced sweating syndrome 2
MONDO:0012468	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
MONDO:0012471	Aicardi-Goutieres syndrome 3
MONDO:0012472	Aicardi-Goutieres syndrome 4
MONDO:0012473	right pulmonary artery, anomalous origin of, familial
MONDO:0012474	autosomal dominant nocturnal frontal lobe epilepsy 4
MONDO:0012475	cone dystrophy with supernormal rod response
MONDO:0012476	hereditary spastic paraplegia 30
MONDO:0012477	retinitis pigmentosa 33
MONDO:0012479	congenital malabsorptive diarrhea 4
MONDO:0012480	diabetes mellitus, transient neonatal, 2
MONDO:0012481	mevalonic aciduria
MONDO:0012483	cone-rod dystrophy 11
MONDO:0012484	prosopagnosia, hereditary
MONDO:0012485	autosomal recessive nonsyndromic deafness 68
MONDO:0012486	preauricular tag, isolated, autosomal dominant, 1
MONDO:0012487	alopecia-intellectual disability syndrome 2
MONDO:0012489	cataract 23
MONDO:0012490	cone-rod synaptic disorder, congenital nonprogressive
MONDO:0012494	testicular microlithiasis
MONDO:0012495	spondyloepimetaphyseal dysplasia, Genevieve type
MONDO:0012496	Koolen de Vries syndrome
MONDO:0012497	congenital stationary night blindness autosomal dominant 3
MONDO:0012498	congenital stationary night blindness autosomal dominant 1
MONDO:0012500	chilblain lupus 1
MONDO:0012502	normophosphatemic familial tumoral calcinosis
MONDO:0012503	thiopurine S-methyltransferase deficiency
MONDO:0012504	camptodactyly-tall stature-scoliosis-hearing loss syndrome
MONDO:0012505	pigmented nodular adrenocortical disease, primary, 2
MONDO:0012506	arrhythmogenic right ventricular dysplasia 11
MONDO:0012507	retinal cone dystrophy 4
MONDO:0012508	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
MONDO:0012509	pigmented nodular adrenocortical disease, primary, 1
MONDO:0012510	combined oxidative phosphorylation defect type 2
MONDO:0012511	preterm premature rupture of the membranes
MONDO:0012512	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MONDO:0012513	maturity-onset diabetes of the young type 7
MONDO:0012514	hypomyelinating leukodystrophy 5
MONDO:0012515	glaucoma 1, open angle, M
MONDO:0012516	mandibulofacial dysostosis-microcephaly syndrome
MONDO:0012517	atypical Gaucher disease due to saposin C deficiency
MONDO:0012518	congenital myasthenic syndrome 12
MONDO:0012519	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
MONDO:0012520	insulin-resistance syndrome type A
MONDO:0012521	herpes simplex encephalitis
MONDO:0012522	diabetes mellitus, transient neonatal, 3
MONDO:0012523	retinitis pigmentosa 36
MONDO:0012524	corticosterone methyloxidase type 2 deficiency
MONDO:0012525	Leber congenital amaurosis 12
MONDO:0012526	hereditary angioedema type 3
MONDO:0012527	cataract 11 multiple types
MONDO:0012528	hypogonadotropic hypogonadism 4 with or without anosmia
MONDO:0012529	Diamond-Blackfan anemia 3
MONDO:0012530	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
MONDO:0012531	xeroderma pigmentosum group B
MONDO:0012532	hereditary hemorrhagic telangiectasia type 4
MONDO:0012534	combined oxidative phosphorylation defect type 4
MONDO:0012535	holoprosencephaly, recurrent infections, and monocytosis
MONDO:0012536	osteogenesis imperfecta type 7
MONDO:0012538	nemaline myopathy 7
MONDO:0012539	Joubert syndrome 6
MONDO:0012540	age related macular degeneration 4
MONDO:0012541	deafness with labyrinthine aplasia, microtia, and microdontia
MONDO:0012543	optic atrophy 5
MONDO:0012544	brachydactyly-syndactyly syndrome
MONDO:0012545	neutral lipid storage myopathy
MONDO:0012546	nephrotic syndrome, type 3
MONDO:0012547	Noonan syndrome 4
MONDO:0012548	Kostmann syndrome
MONDO:0012549	autosomal recessive ataxia, Beauce type
MONDO:0012551	alopecia areata 2
MONDO:0012552	multiple endocrine neoplasia type 4
MONDO:0012553	cerebrooculofacioskeletal syndrome 2
MONDO:0012554	cerebrooculofacioskeletal syndrome 4
MONDO:0012555	Cornelia de Lange syndrome 3
MONDO:0012556	DK1-CDG
MONDO:0012557	cardiomyopathy-hypotonia-lactic acidosis syndrome
MONDO:0012558	epiphyseal dysplasia, Baumann type
MONDO:0012559	primary immunodeficiency syndrome due to p14 deficiency
MONDO:0012561	congenital anomalies of kidney and urinary tract 1
MONDO:0012562	holoprosencephaly 7
MONDO:0012563	holoprosencephaly 9
MONDO:0012565	Fanconi anemia complementation group N
MONDO:0012569	mitral valve prolapse, myxomatous 3
MONDO:0012570	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
MONDO:0012571	primary ciliary dyskinesia 6
MONDO:0012573	vesicoureteral reflux 2
MONDO:0012574	Potocki-Lupski syndrome
MONDO:0012575	branchiootorenal syndrome 2
MONDO:0012579	autoimmune pulmonary alveolar proteinosis
MONDO:0012580	hereditary pulmonary alveolar proteinosis
MONDO:0012581	osteogenesis imperfecta type 8
MONDO:0012582	interstitial lung disease due to ABCA3 deficiency
MONDO:0012586	coronary artery disease, autosomal dominant 2
MONDO:0012588	neuronal ceroid lipofuscinosis 7
MONDO:0012589	Pitt-Hopkins syndrome
MONDO:0012590	XFE progeroid syndrome
MONDO:0012591	osteogenesis imperfecta type 5
MONDO:0012592	osteogenesis imperfecta type 11
MONDO:0012593	brain-lung-thyroid syndrome
MONDO:0012594	complement factor I deficiency
MONDO:0012596	PSAT deficiency
MONDO:0012602	autosomal recessive nonsyndromic deafness 24
MONDO:0012603	episodic kinesigenic dyskinesia 2
MONDO:0012604	isolated microphthalmia 3
MONDO:0012605	isolated microphthalmia 5
MONDO:0012608	autosomal recessive lower motor neuron disease with childhood onset
MONDO:0012611	polyhydramnios, megalencephaly, and symptomatic epilepsy
MONDO:0012612	intellectual disability, autosomal recessive 12
MONDO:0012613	intellectual disability, autosomal recessive 5
MONDO:0012614	intellectual disability, autosomal recessive 6
MONDO:0012615	intellectual disability, autosomal recessive 7
MONDO:0012617	intellectual disability, autosomal recessive 9
MONDO:0012618	intellectual disability, autosomal recessive 10
MONDO:0012619	intellectual disability, autosomal recessive 11
MONDO:0012621	deafness-infertility syndrome
MONDO:0012622	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
MONDO:0012623	intellectual disability, autosomal recessive 4
MONDO:0012624	acyl-CoA dehydrogenase 9 deficiency
MONDO:0012625	retinitis pigmentosa 37
MONDO:0012626	Meckel syndrome, type 4
MONDO:0012629	paroxysmal nonkinesigenic dyskinesia 2
MONDO:0012634	craniofacial dysplasia - osteopenia syndrome
MONDO:0012635	COG8-CDG
MONDO:0012637	COG1-CDG
MONDO:0012638	microphthalmia-brain atrophy syndrome
MONDO:0012639	hereditary spastic paraplegia 18
MONDO:0012640	Charcot-Marie-Tooth disease type 4J
MONDO:0012643	hereditary spastic paraplegia 32
MONDO:0012644	asphyxiating thoracic dystrophy 2
MONDO:0012648	isobutyryl-CoA dehydrogenase deficiency
MONDO:0012650	Cernunnos-XLF deficiency
MONDO:0012651	spastic ataxia 2
MONDO:0012652	autosomal recessive limb-girdle muscular dystrophy type 2L
MONDO:0012654	atrial septal defect 4
MONDO:0012655	myoclonic epilepsy, juvenile, susceptibility to, 4
MONDO:0012656	lethal congenital contracture syndrome 3
MONDO:0012657	Mungan syndrome
MONDO:0012658	brachydactyly type B2
MONDO:0012662	Usher syndrome type 2D
MONDO:0012664	spastic ataxia 3
MONDO:0012665	cataract 33
MONDO:0012667	dilated cardiomyopathy 1W
MONDO:0012668	Tented eyebrows
MONDO:0012669	Legius syndrome
MONDO:0012670	autosomal recessive nonsyndromic deafness 63
MONDO:0012672	cholelithiasis
MONDO:0012675	corticosteroid-binding globulin deficiency
MONDO:0012676	autosomal recessive osteopetrosis 4
MONDO:0012677	atrial fibrillation, familial, 4
MONDO:0012678	atrial fibrillation, familial, 5
MONDO:0012679	autosomal recessive osteopetrosis 6
MONDO:0012680	nephronophthisis 7
MONDO:0012682	susceptibility to infection due to TYK2 deficiency
MONDO:0012683	pontocerebellar hypoplasia type 6
MONDO:0012684	arrhythmogenic right ventricular dysplasia 12
MONDO:0012687	familial cavitary optic disc anomaly
MONDO:0012688	cataract 17 multiple types
MONDO:0012689	premature ovarian failure 5
MONDO:0012690	Noonan syndrome 5
MONDO:0012691	LEOPARD syndrome 2
MONDO:0012692	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
MONDO:0012693	glycogen storage disease due to muscle and heart glycogen synthase deficiency
MONDO:0012694	Joubert syndrome 7
MONDO:0012695	Meckel syndrome, type 5
MONDO:0012696	otosclerosis 4
MONDO:0012697	otosclerosis 7
MONDO:0012698	Waardenburg syndrome type 2E
MONDO:0012699	autosomal recessive limb-girdle muscular dystrophy type 2M
MONDO:0012700	renal tubular acidosis, distal, 4, with hemolytic anemia
MONDO:0012701	cataract 12 multiple types
MONDO:0012703	lissencephaly due to TUBA1A mutation
MONDO:0012704	dilated cardiomyopathy 1X
MONDO:0012705	familial temporal lobe epilepsy 3
MONDO:0012706	familial temporal lobe epilepsy 4
MONDO:0012707	familial febrile seizures 9
MONDO:0012708	primary lateral sclerosis, adult, 1
MONDO:0012709	microphthalmia, isolated, with coloboma 5
MONDO:0012712	dystonia with cerebellar atrophy
MONDO:0012713	spondylometaphyseal dysplasia, East African type
MONDO:0012714	early-onset myopathy with fatal cardiomyopathy
MONDO:0012716	spondyloepiphyseal dysplasia, Cantu type
MONDO:0012717	renal hypomagnesemia 4
MONDO:0012718	hypotonia with lactic acidemia and hyperammonemia
MONDO:0012719	encephalopathy due to prosaposin deficiency
MONDO:0012720	Krabbe disease, atypical, due to saposin A deficiency
MONDO:0012721	progressive myoclonic epilepsy type 3
MONDO:0012723	Leber congenital amaurosis 10
MONDO:0012724	familial cold autoinflammatory syndrome 2
MONDO:0012725	lipoprotein glomerulopathy
MONDO:0012726	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
MONDO:0012727	mucocutaneous lymph node syndrome
MONDO:0012728	Brugada syndrome 2
MONDO:0012729	erythrocytosis, familial, 4
MONDO:0012730	aortic aneurysm, familial thoracic 6
MONDO:0012731	elliptocytosis 1
MONDO:0012732	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
MONDO:0012733	autosomal recessive bestrophinopathy
MONDO:0012734	SERKAL syndrome
MONDO:0012735	Temple-Baraitser syndrome
MONDO:0012736	long QT syndrome 9
MONDO:0012737	long QT syndrome 10
MONDO:0012738	long QT syndrome 11
MONDO:0012739	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
MONDO:0012740	chromosome 22q11.2 deletion syndrome, distal
MONDO:0012742	Brugada syndrome 3
MONDO:0012743	Brugada syndrome 4
MONDO:0012744	dilated cardiomyopathy 1Y
MONDO:0012745	dilated cardiomyopathy 1Z
MONDO:0012746	dilated cardiomyopathy 2A
MONDO:0012747	glycogen storage disease due to aldolase A deficiency
MONDO:0012748	primary ciliary dyskinesia 7
MONDO:0012750	lethal arthrogryposis-anterior horn cell disease syndrome
MONDO:0012753	amyotrophic lateral sclerosis type 9
MONDO:0012755	episodic ataxia type 7
MONDO:0012756	proximal 16p11.2 microdeletion syndrome
MONDO:0012757	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MONDO:0012759	camptodactyly syndrome, Guadalajara type 3
MONDO:0012761	chromosome 3q29 microduplication syndrome
MONDO:0012762	catecholaminergic polymorphic ventricular tachycardia 2
MONDO:0012764	RIDDLE syndrome
MONDO:0012765	lymphedema, hereditary, 1B
MONDO:0012766	hereditary spastic paraplegia 37
MONDO:0012767	age related macular degeneration 11
MONDO:0012772	Stevenson-Carey syndrome
MONDO:0012773	Hunter-Macdonald syndrome
MONDO:0012774	chromosome 15q13.3 microdeletion syndrome
MONDO:0012775	thrombocytopenia 4
MONDO:0012783	RFT1-CDG
MONDO:0012784	autosomal recessive ataxia due to ubiquinone deficiency
MONDO:0012786	juvenile cataract-microcornea-renal glucosuria syndrome
MONDO:0012787	hereditary spastic paraplegia 39
MONDO:0012789	dystonia 16
MONDO:0012790	amyotrophic lateral sclerosis type 10
MONDO:0012791	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MONDO:0012792	mitochondrial DNA depletion syndrome 8a
MONDO:0012793	hypouricemia, renal, 2
MONDO:0012794	ANE syndrome
MONDO:0012795	hypophosphatemic rickets and hyperparathyroidism
MONDO:0012796	retinitis pigmentosa 41
MONDO:0012797	otosclerosis 8
MONDO:0012798	deafness, unilateral, with delayed endolymphatic hydrops
MONDO:0012799	hypertrophic cardiomyopathy 11
MONDO:0012802	oculoauricular syndrome
MONDO:0012803	diarrhea-vomiting due to trehalase deficiency
MONDO:0012804	hypertrophic cardiomyopathy 12
MONDO:0012805	childhood onset GLUT1 deficiency syndrome 2
MONDO:0012806	ectodermal dysplasia and immunodeficiency 2
MONDO:0012807	epidermolysis bullosa simplex with pyloric atresia
MONDO:0012808	dilated cardiomyopathy 1AA
MONDO:0012809	histiocytoma, Angiomatoid fibrous
MONDO:0012812	developmental and epileptic encephalopathy, 4
MONDO:0012813	retinitis pigmentosa 29
MONDO:0012814	diastasis recti and weakness of the linea alba
MONDO:0012816	atrial fibrillation, familial, 6
MONDO:0012817	Ewing sarcoma
MONDO:0012818	maturity-onset diabetes of the young type 9
MONDO:0012819	diabetic ketoacidosis
MONDO:0012824	hypomyelinating leukodystrophy 4
MONDO:0012825	extraskeletal myxoid chondrosarcoma
MONDO:0012828	atrial fibrillation, familial, 7
MONDO:0012830	chromosome 10q23 deletion syndrome
MONDO:0012831	inflammatory bowel disease 13
MONDO:0012833	Crouzon syndrome-acanthosis nigricans syndrome
MONDO:0012839	pyogenic bacterial infections due to MyD88 deficiency
MONDO:0012843	epilepsy, childhood absence, susceptibility to, 5
MONDO:0012845	inflammatory bowel disease 19
MONDO:0012847	autosomal recessive congenital ichthyosis 6
MONDO:0012848	Meckel syndrome, type 6
MONDO:0012849	Joubert syndrome 9
MONDO:0012850	hypophosphatemic nephrolithiasis/osteoporosis 1
MONDO:0012851	hypophosphatemic nephrolithiasis/osteoporosis 2
MONDO:0012853	Fontaine progeroid syndrome
MONDO:0012854	bilateral microtia-deafness-cleft palate syndrome
MONDO:0012855	Joubert syndrome 8
MONDO:0012856	Birk-Barel syndrome
MONDO:0012858	primary CD59 deficiency
MONDO:0012859	autosomal recessive osteopetrosis 7
MONDO:0012860	thrombophilia due to protein C deficiency, autosomal recessive
MONDO:0012861	premature ovarian failure 6
MONDO:0012864	chromosome 2q32-q33 deletion syndrome
MONDO:0012866	hereditary spastic paraplegia 35
MONDO:0012867	hereditary spastic paraplegia 38
MONDO:0012868	thrombophilia due to protein S deficiency, autosomal dominant
MONDO:0012869	intellectual disability, autosomal dominant 22
MONDO:0012871	Jervell and Lange-Nielsen syndrome 2
MONDO:0012872	thrombophilia, familial, due to decreased release of tissue plasminogen activator
MONDO:0012873	Ehlers-Danlos syndrome, spondylocheirodysplastic type
MONDO:0012874	porokeratosis 6, disseminated superficial actinic type
MONDO:0012875	inflammatory bowel disease 21
MONDO:0012876	heparin cofactor 2 deficiency
MONDO:0012878	Cowden syndrome 2
MONDO:0012880	hypogonadotropic hypogonadism 5 with or without anosmia
MONDO:0012883	acute promyelocytic leukemia
MONDO:0012885	SRD5A3-CDG
MONDO:0012890	pontocerebellar hypoplasia type 2B
MONDO:0012891	pontocerebellar hypoplasia type 2C
MONDO:0012892	connective tissue disorder due to lysyl hydroxylase-3 deficiency
MONDO:0012895	torsion dystonia 17
MONDO:0012897	congenital factor XI deficiency
MONDO:0012900	cardiomyopathy, familial restrictive, 3
MONDO:0012901	inherited prekallikrein deficiency
MONDO:0012902	autosomal dominant nonsyndromic deafness 27
MONDO:0012903	autosomal recessive nonsyndromic deafness 45
MONDO:0012904	epilepsy, progressive myoclonic, 1B
MONDO:0012905	hypomyelinating leukodystrophy 6
MONDO:0012906	primary ciliary dyskinesia 9
MONDO:0012907	blindness - scoliosis - arachnodactyly syndrome
MONDO:0012908	complement component 6 deficiency
MONDO:0012909	skeletal defects, genital hypoplasia, and intellectual disability
MONDO:0012911	pseudohypoparathyroidism type 1C
MONDO:0012912	pseudopseudohypoparathyroidism
MONDO:0012914	chromosome 1q21.1 deletion syndrome
MONDO:0012915	chromosome 1q21.1 duplication syndrome
MONDO:0012916	chromosome 2p16.1-p15 deletion syndrome
MONDO:0012918	primary ciliary dyskinesia 10
MONDO:0012919	type 1 diabetes mellitus 20
MONDO:0012923	congenital generalized lipodystrophy type 3
MONDO:0012924	Diamond-Blackfan anemia 4
MONDO:0012925	Diamond-Blackfan anemia 5
MONDO:0012926	amelogenesis imperfecta hypomaturation type 2A2
MONDO:0012927	chromosome 1q41-q42 deletion syndrome
MONDO:0012928	hereditary spastic paraplegia 42
MONDO:0012929	Compton-North congenital myopathy
MONDO:0012930	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MONDO:0012931	focal segmental glomerulosclerosis 4, susceptibility to
MONDO:0012933	breast-ovarian cancer, familial, susceptibility to, 2
MONDO:0012937	Diamond-Blackfan anemia 6
MONDO:0012938	Diamond-Blackfan anemia 7
MONDO:0012939	Diamond-Blackfan anemia 8
MONDO:0012941	inflammatory bowel disease 25
MONDO:0012943	retinitis pigmentosa 46
MONDO:0012944	chromosome 17P13.3, telomeric, duplication syndrome
MONDO:0012945	amyotrophic lateral sclerosis type 11
MONDO:0012946	intellectual disability, autosomal dominant 3
MONDO:0012947	intellectual disability, autosomal dominant 4
MONDO:0012948	chromosome 6pter-p24 deletion syndrome
MONDO:0012960	intellectual disability, autosomal dominant 5
MONDO:0012964	chromosome 15q26-qter deletion syndrome
MONDO:0012967	hemolytic anemia due to adenylate kinase deficiency
MONDO:0012974	autosomal dominant nonsyndromic deafness 59
MONDO:0012975	autosomal dominant nonsyndromic deafness 3B
MONDO:0012976	autosomal dominant nonsyndromic deafness 2B
MONDO:0012977	autosomal recessive nonsyndromic deafness 1B
MONDO:0012978	primary ciliary dyskinesia 11
MONDO:0012979	primary ciliary dyskinesia 12
MONDO:0012980	endocrine-cerebro-osteodysplasia syndrome
MONDO:0012981	hereditary spherocytosis type 4
MONDO:0012982	episodic ataxia type 6
MONDO:0012983	cone-rod dystrophy 12
MONDO:0012984	PHARC syndrome
MONDO:0012985	hereditary spherocytosis type 5
MONDO:0012986	bilateral parasagittal parieto-occipital polymicrogyria
MONDO:0012987	agammaglobulinemia 6, autosomal recessive
MONDO:0012988	hypogonadotropic hypogonadism 6 with or without anosmia
MONDO:0012989	microcephaly 7, primary, autosomal recessive
MONDO:0012990	Leber congenital amaurosis 13
MONDO:0012991	Kahrizi syndrome
MONDO:0012992	pancreatic insufficiency-anemia-hyperostosis syndrome
MONDO:0012994	dopa-responsive dystonia due to sepiapterin reductase deficiency
MONDO:0012995	myopia 15, autosomal dominant
MONDO:0012996	AGAT deficiency
MONDO:0012997	cholestasis-pigmentary retinopathy-cleft palate syndrome
MONDO:0012998	faciocardiomelic syndrome
MONDO:0012999	guanidinoacetate methyltransferase deficiency
MONDO:0013000	porphyria due to ALA dehydratase deficiency
MONDO:0013002	cone-rod dystrophy 9
MONDO:0013003	isolated congenital hypoglossia/aglossia
MONDO:0013005	EAST syndrome
MONDO:0013006	isolated growth hormone deficiency type IB
MONDO:0013007	combined immunodeficiency due to ORAI1 deficiency
MONDO:0013008	combined immunodeficiency due to STIM1 deficiency
MONDO:0013010	autosomal recessive nonsyndromic deafness 71
MONDO:0013011	atrial septal defect 5
MONDO:0013013	question mark ears, isolated
MONDO:0013014	spondyloepimetaphyseal dysplasia, aggrecan type
MONDO:0013015	Brugada syndrome 5
MONDO:0013016	leukocyte adhesion deficiency 3
MONDO:0013017	hypotrichosis 5
MONDO:0013018	keratosis follicularis spinulosa decalvans, autosomal dominant
MONDO:0013021	sterile multifocal osteomyelitis with periostitis and pustulosis
MONDO:0013024	chronic thromboembolic pulmonary hypertension
MONDO:0013025	chromosome 6q24-q25 deletion syndrome
MONDO:0013026	subepithelial mucinous corneal dystrophy
MONDO:0013027	posterior amorphous corneal dystrophy
MONDO:0013028	adenosine monophosphate deaminase deficiency
MONDO:0013030	dilated cardiomyopathy 1BB
MONDO:0013033	cerebral palsy, spastic quadriplegic, 2
MONDO:0013034	keratosis palmoplantaris striata 2
MONDO:0013035	orofaciodigital syndrome XI
MONDO:0013036	Zechi-Ceide syndrome
MONDO:0013037	Giacheti syndrome
MONDO:0013038	CLOVES syndrome
MONDO:0013039	3M syndrome 2
MONDO:0013040	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
MONDO:0013041	atypical hemolytic-uremic syndrome with I factor anomaly
MONDO:0013042	atypical hemolytic-uremic syndrome with B factor anomaly
MONDO:0013043	atypical hemolytic-uremic syndrome with C3 anomaly
MONDO:0013044	atypical hemolytic-uremic syndrome with thrombomodulin anomaly
MONDO:0013046	glycogen storage disease due to muscle beta-enolase deficiency
MONDO:0013047	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
MONDO:0013048	hereditary spastic paraplegia 50
MONDO:0013049	DPM3-CDG
MONDO:0013050	lethal polymalformative syndrome, Boissel type
MONDO:0013051	autosomal recessive cutis laxa type 2B
MONDO:0013052	retinitis pigmentosa 42
MONDO:0013053	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
MONDO:0013054	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
MONDO:0013055	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features
MONDO:0013056	developmental and epileptic encephalopathy, 39
MONDO:0013058	cystic leukoencephalopathy without megalencephaly
MONDO:0013059	Aicardi-Goutieres syndrome 5
MONDO:0013060	autosomal recessive Parkinson disease 14
MONDO:0013061	myofibrillar myopathy 6
MONDO:0013062	long QT syndrome 12
MONDO:0013063	ventricular fibrillation, paroxysmal familial, 2
MONDO:0013064	multiple synostoses syndrome 3
MONDO:0013065	premature ovarian failure 7
MONDO:0013066	46,XY sex reversal 3
MONDO:0013069	autosomal recessive optic atrophy, OPA7 type
MONDO:0013070	spermatogenic failure 7
MONDO:0013071	Emery-Dreifuss muscular dystrophy 4, autosomal dominant
MONDO:0013072	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
MONDO:0013073	palmoplantar keratoderma, nonepidermolytic, focal 1
MONDO:0013074	encephalocraniocutaneous lipomatosis
MONDO:0013075	herpes simplex encephalitis, susceptibility to, 2
MONDO:0013077	Santos syndrome
MONDO:0013081	lymphoproliferative syndrome 1
MONDO:0013082	Hirschsprung disease-ganglioneuroblastoma syndrome
MONDO:0013087	bronchiectasis with or without elevated sweat chloride 2
MONDO:0013088	follicular lymphoma, susceptibility to, 1
MONDO:0013090	chromosome 19q13.11 deletion syndrome
MONDO:0013091	glycogen storage disease IXc
MONDO:0013099	combined pituitary hormone deficiencies, genetic form
MONDO:0013103	epilepsy, idiopathic generalized, susceptibility to, 10
MONDO:0013108	leukemia, acute lymphocytic, susceptibility to, 1
MONDO:0013110	neurodegenerative syndrome due to cerebral folate transport deficiency
MONDO:0013111	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
MONDO:0013112	bronchiectasis with or without elevated sweat chloride 3
MONDO:0013113	metaphyseal anadysplasia 2
MONDO:0013114	autosomal dominant nonsyndromic deafness 50
MONDO:0013115	RIN2 syndrome
MONDO:0013116	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
MONDO:0013117	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
MONDO:0013118	Nijmegen breakage syndrome-like disorder
MONDO:0013119	autosomal recessive nonsyndromic deafness 77
MONDO:0013120	46,XY sex reversal 5
MONDO:0013122	glaucoma 3, primary congenital, D
MONDO:0013123	atrial septal defect 6
MONDO:0013125	CLAPO syndrome
MONDO:0013127	asphyxiating thoracic dystrophy 3
MONDO:0013128	familial juvenile hyperuricemic nephropathy type 2
MONDO:0013129	cone dystrophy 4
MONDO:0013130	isolated microphthalmia 4
MONDO:0013131	polycystic kidney disease 2
MONDO:0013132	hereditary spastic paraplegia 36
MONDO:0013134	glaucoma 1, open angle, O
MONDO:0013135	familial hemophagocytic lymphohistiocytosis 5
MONDO:0013136	hereditary hypotrichosis with recurrent skin vesicles
MONDO:0013137	choroidal dystrophy, central areolar 2
MONDO:0013139	neutropenia, severe congenital, 2, autosomal dominant
MONDO:0013140	candidiasis, familial, 4
MONDO:0013141	autosomal dominant macrothrombocytopenia TUBB1-related
MONDO:0013142	neuropathy, hereditary sensory and autonomic, type 2B
MONDO:0013143	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
MONDO:0013144	antithrombin III deficiency
MONDO:0013145	Brugada syndrome 6
MONDO:0013146	Brugada syndrome 7
MONDO:0013147	dilated cardiomyopathy 1CC
MONDO:0013148	Brugada syndrome 8
MONDO:0013149	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
MONDO:0013150	parkinsonism-dystonia, infantile
MONDO:0013151	choroidal dystrophy, central areolar, 3
MONDO:0013153	inflammatory bowel disease 28
MONDO:0013154	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
MONDO:0013155	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
MONDO:0013156	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
MONDO:0013157	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
MONDO:0013158	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
MONDO:0013159	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
MONDO:0013160	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MONDO:0013161	autosomal recessive limb-girdle muscular dystrophy type 2O
MONDO:0013162	autosomal recessive limb-girdle muscular dystrophy type 2N
MONDO:0013163	nephronophthisis-like nephropathy 1
MONDO:0013164	beta-ureidopropionase deficiency
MONDO:0013165	hereditary spastic paraplegia 45
MONDO:0013166	GABA aminotransferase deficiency
MONDO:0013168	dilated cardiomyopathy 1DD
MONDO:0013169	chromosome 5p13 duplication syndrome
MONDO:0013170	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MONDO:0013171	purine nucleoside phosphorylase deficiency
MONDO:0013172	polymicrogyria with optic nerve hypoplasia
MONDO:0013173	intellectual disability, autosomal recessive 13
MONDO:0013174	primary ciliary dyskinesia 13
MONDO:0013175	retinitis pigmentosa 50
MONDO:0013176	ichthyosis-short stature-brachydactyly-microspherophakia syndrome
MONDO:0013177	congenital muscular dystrophy due to integrin alpha-7 deficiency
MONDO:0013178	congenital muscular dystrophy due to LMNA mutation
MONDO:0013179	hereditary spastic paraplegia 44
MONDO:0013181	amelogenesis imperfecta hypomaturation type 2A3
MONDO:0013182	chromosome 17p13.3 duplication syndrome
MONDO:0013183	congenital stationary night blindness 1C
MONDO:0013184	congenital diarrhea 5 with tufting enteropathy
MONDO:0013186	Noonan syndrome 6
MONDO:0013187	factor XIII, A subunit, deficiency of
MONDO:0013188	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
MONDO:0013189	trichotillomania
MONDO:0013190	factor XIII, b subunit, deficiency of
MONDO:0013191	focal segmental glomerulosclerosis 5
MONDO:0013193	thyrotoxic periodic paralysis, susceptibility to, 2
MONDO:0013194	Pseudopili annulati
MONDO:0013195	hypertrophic cardiomyopathy 13
MONDO:0013196	colorectal cancer, hereditary nonpolyposis, type 8
MONDO:0013197	hypertrophic cardiomyopathy 14
MONDO:0013198	dilated cardiomyopathy 1EE
MONDO:0013199	tuberous sclerosis 2
MONDO:0013200	hypertrophic cardiomyopathy 15
MONDO:0013201	Waardenburg syndrome type 4B
MONDO:0013202	Waardenburg syndrome type 4C
MONDO:0013203	corneal dystrophy, Fuchs endothelial, 3
MONDO:0013204	corneal dystrophy, Fuchs endothelial, 4
MONDO:0013206	corneal dystrophy, Fuchs endothelial, 6
MONDO:0013208	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
MONDO:0013210	autosomal recessive nonsyndromic deafness 25
MONDO:0013211	dilated cardiomyopathy 1FF
MONDO:0013212	Charcot-Marie-Tooth disease axonal type 2N
MONDO:0013214	bile acid malabsorption, primary
MONDO:0013215	autosomal recessive nonsyndromic deafness 79
MONDO:0013216	Diamond-Blackfan anemia 9
MONDO:0013217	Diamond-Blackfan anemia 10
MONDO:0013218	exudative vitreoretinopathy 5
MONDO:0013219	hypophosphatemic rickets, autosomal recessive, 2
MONDO:0013220	hemochromatosis type 2B
MONDO:0013222	Miyoshi muscular dystrophy 3
MONDO:0013223	autosomal recessive spondylometaphyseal dysplasia, Megarbane type
MONDO:0013224	rhabdoid tumor predisposition syndrome 2
MONDO:0013225	congenital generalized lipodystrophy type 4
MONDO:0013226	combined immunodeficiency with faciooculoskeletal anomalies
MONDO:0013227	congenital plasminogen activator inhibitor type 1 deficiency
MONDO:0013228	spondylo-megaepiphyseal-metaphyseal dysplasia
MONDO:0013231	Leber congenital amaurosis 14
MONDO:0013232	brachydactylous dwarfism, Mseleni type
MONDO:0013233	spondyloepimetaphyseal dysplasia, Handigodu type
MONDO:0013234	hypokalemic periodic paralysis, type 2
MONDO:0013238	chromosome 17q23.1-q23.2 deletion syndrome
MONDO:0013239	hereditary spastic paraplegia 41
MONDO:0013240	maturity-onset diabetes of the young type 10
MONDO:0013241	spinocerebellar ataxia type 30
MONDO:0013242	maturity-onset diabetes of the young type 11
MONDO:0013243	neuronopathy, distal hereditary motor, type 2C
MONDO:0013244	brachydactyly type E2
MONDO:0013245	syndromic multisystem autoimmune disease due to ITCH deficiency
MONDO:0013246	fatty liver disease, nonalcoholic, susceptibility to, 2
MONDO:0013247	Fanconi renotubular syndrome 2
MONDO:0013248	Fanconi anemia complementation group O
MONDO:0013249	autosomal recessive nonsyndromic deafness 84A
MONDO:0013250	autosomal recessive nonsyndromic deafness 85
MONDO:0013252	Warsaw breakage syndrome
MONDO:0013253	breast-ovarian cancer, familial, susceptibility to, 3
MONDO:0013254	microcephaly, seizures, and developmental delay
MONDO:0013255	arthrogryposis, renal dysfunction, and cholestasis 2
MONDO:0013256	chromosome 15q24 deletion syndrome
MONDO:0013259	Oguchi disease-2
MONDO:0013260	esophagitis, eosinophilic, 2
MONDO:0013261	dilated cardiomyopathy 1R
MONDO:0013262	dilated cardiomyopathy 1S
MONDO:0013263	retinitis pigmentosa 54
MONDO:0013264	amyotrophic lateral sclerosis type 12
MONDO:0013266	intellectual disability, autosomal dominant 20
MONDO:0013267	distal 16p11.2 microdeletion syndrome
MONDO:0013268	frontonasal dysplasia with alopecia and genital anomaly
MONDO:0013269	autosomal recessive nonsyndromic deafness 91
MONDO:0013270	Rett syndrome, congenital variant
MONDO:0013271	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
MONDO:0013272	chromosome 14q11-q22 deletion syndrome
MONDO:0013273	chromosome 16p13.3 duplication syndrome
MONDO:0013274	retinitis pigmentosa 51
MONDO:0013275	hemolytic anemia due to glucophosphate isomerase deficiency
MONDO:0013276	Reynolds syndrome
MONDO:0013277	developmental and epileptic encephalopathy, 5
MONDO:0013278	lymphedema, hereditary, 1C
MONDO:0013279	long QT syndrome 13
MONDO:0013280	myxoid liposarcoma
MONDO:0013281	COG4-CDG
MONDO:0013282	alpha 1-antitrypsin deficiency
MONDO:0013283	immunodeficiency, common variable, 3
MONDO:0013284	immunodeficiency, common variable, 4
MONDO:0013285	immunodeficiency, common variable, 5
MONDO:0013286	immunodeficiency, common variable, 6
MONDO:0013287	agammaglobulinemia 2, autosomal recessive
MONDO:0013288	agammaglobulinemia 3, autosomal recessive
MONDO:0013289	agammaglobulinemia 4, autosomal recessive
MONDO:0013290	agammaglobulinemia 5, autosomal dominant
MONDO:0013291	glycogen storage disease XV
MONDO:0013292	chromosome 4q21 deletion syndrome
MONDO:0013293	isolated microphthalmia 6
MONDO:0013297	autosomal dominant limb-girdle muscular dystrophy type 1H
MONDO:0013298	chromosome 17q21.31 duplication syndrome
MONDO:0013299	chromosome 6q11-q14 deletion syndrome
MONDO:0013301	aromatase deficiency
MONDO:0013302	nephronophthisis 11
MONDO:0013304	von Willebrand disease 2
MONDO:0013305	autosomal dominant nonsyndromic deafness 51
MONDO:0013306	combined oxidative phosphorylation defect type 7
MONDO:0013307	myopathy, lactic acidosis, and sideroblastic anemia 2
MONDO:0013308	CBL-related disorder
MONDO:0013310	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
MONDO:0013312	retinitis pigmentosa 55
MONDO:0013313	ectodermal dysplasia-cutaneous syndactyly syndrome
MONDO:0013314	retinitis pigmentosa 56
MONDO:0013315	retinitis pigmentosa 57
MONDO:0013316	occult macular dystrophy
MONDO:0013319	chromosome 4Q32.1-q32.2 triplication syndrome
MONDO:0013320	chromosome 16p12.2-p11.2 deletion syndrome
MONDO:0013321	forsythe-wakeling syndrome
MONDO:0013322	epilepsy, familial adult myoclonic, 3
MONDO:0013323	cranioectodermal dysplasia 2
MONDO:0013324	lymphedema-posterior choanal atresia syndrome
MONDO:0013325	COG5-CDG
MONDO:0013326	Senior-Loken syndrome 7
MONDO:0013327	primary hyperoxaluria type 3
MONDO:0013328	retinitis pigmentosa 58
MONDO:0013329	familial clubfoot due to 17q23.1q23.2 microduplication
MONDO:0013330	agenesis of the corpus callosum and congenital lymphedema
MONDO:0013331	factor 5 and Factor VIII, combined deficiency of, 2
MONDO:0013332	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
MONDO:0013333	odontoid hypoplasia
MONDO:0013334	cocoon syndrome
MONDO:0013336	chromosome 19p13.13 deletion syndrome
MONDO:0013337	neuropathy, hereditary sensory and autonomic, type 1C
MONDO:0013338	Charcot-Marie-Tooth disease recessive intermediate B
MONDO:0013339	dilated cardiomyopathy 1GG
MONDO:0013340	Parkinson disease 5, autosomal dominant, susceptibility to
MONDO:0013341	methylmalonic acidemia due to transcobalamin receptor defect
MONDO:0013342	hereditary spastic paraplegia 48
MONDO:0013343	C1Q deficiency
MONDO:0013345	d-2-hydroxyglutaric aciduria 2
MONDO:0013348	cone-rod dystrophy 15
MONDO:0013349	ALG11-CDG
MONDO:0013350	mitochondrial DNA depletion syndrome 4b
MONDO:0013351	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
MONDO:0013352	intellectual disability-severe speech delay-mild dysmorphism syndrome
MONDO:0013353	intellectual disability, anterior maxillary protrusion, and strabismus
MONDO:0013354	spastic ataxia 4
MONDO:0013355	congenital dyserythropoietic anemia type 4
MONDO:0013356	vesicoureteral reflux 3
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb
MONDO:0013358	Seckel syndrome 4
MONDO:0013359	familial hyperaldosteronism type III
MONDO:0013360	brachyolmia, Maroteaux type
MONDO:0013361	congenital prothrombin deficiency
MONDO:0013362	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
MONDO:0013363	chromosome 2q31.1 duplication syndrome
MONDO:0013364	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
MONDO:0013365	autosomal recessive nonsyndromic deafness 83
MONDO:0013366	spondylocostal dysostosis 4, autosomal recessive
MONDO:0013367	long QT syndrome 2
MONDO:0013368	mammary-digital-nail syndrome
MONDO:0013369	hypertrophic cardiomyopathy 7
MONDO:0013370	long QT syndrome 6
MONDO:0013371	dilated cardiomyopathy 1U
MONDO:0013372	long QT syndrome 5
MONDO:0013373	dilated cardiomyopathy 1V
MONDO:0013375	Klippel-Feil syndrome 3, autosomal dominant
MONDO:0013376	microphthalmia, isolated, with coloboma 6
MONDO:0013377	isolated microphthalmia 7
MONDO:0013378	orofacial cleft 10
MONDO:0013379	Noonan syndrome 7
MONDO:0013380	LEOPARD syndrome 3
MONDO:0013381	neuropathy, hereditary sensory, type 1D
MONDO:0013382	progressive demyelinating neuropathy with bilateral striatal necrosis
MONDO:0013383	Hirschsprung disease, susceptibility to, 3
MONDO:0013384	Hirschsprung disease, susceptibility to, 4
MONDO:0013385	Treacher Collins syndrome 2
MONDO:0013386	autosomal recessive nonsyndromic deafness 74
MONDO:0013387	developmental and epileptic encephalopathy, 7
MONDO:0013388	developmental and epileptic encephalopathy, 11
MONDO:0013389	developmental and epileptic encephalopathy, 12
MONDO:0013390	autosomal recessive limb-girdle muscular dystrophy type 2Q
MONDO:0013391	sterol carrier protein 2 deficiency
MONDO:0013392	autosomal recessive spinocerebellar ataxia 10
MONDO:0013393	distal 7q11.23 microdeletion syndrome
MONDO:0013394	porencephaly-microcephaly-bilateral congenital cataract syndrome
MONDO:0013395	retinitis pigmentosa 4
MONDO:0013396	chromosome 1p32-p31 deletion syndrome
MONDO:0013397	acne inversa, familial, 2
MONDO:0013398	acne inversa, familial, 3
MONDO:0013400	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
MONDO:0013401	hereditary spastic paraplegia 51
MONDO:0013402	retinitis pigmentosa 27
MONDO:0013403	heterotaxy, visceral, 4, autosomal
MONDO:0013404	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
MONDO:0013405	retinitis pigmentosa 49
MONDO:0013406	age related macular degeneration 6
MONDO:0013407	retinitis pigmentosa 47
MONDO:0013408	FADD-related immunodeficiency
MONDO:0013410	46,XY sex reversal 6
MONDO:0013411	cataract 16 multiple types
MONDO:0013412	hypertrophic cardiomyopathy 9
MONDO:0013413	retinitis pigmentosa 45
MONDO:0013414	retinitis pigmentosa 44
MONDO:0013415	chromosome 17p13.1 deletion syndrome
MONDO:0013417	complement component 3 deficiency
MONDO:0013418	aortic aneurysm, familial thoracic 7
MONDO:0013419	complement component C1s deficiency
MONDO:0013421	type II complement component 8 deficiency
MONDO:0013422	type I complement component 8 deficiency
MONDO:0013423	immunodeficiency due to MASP-2 deficiency
MONDO:0013424	3p- syndrome
MONDO:0013425	retinitis pigmentosa 20
MONDO:0013426	aneurysm-osteoarthritis syndrome
MONDO:0013427	immunodeficiency 31B
MONDO:0013428	Meier-Gorlin syndrome 2
MONDO:0013429	retinitis pigmentosa 40
MONDO:0013430	Meier-Gorlin syndrome 3
MONDO:0013431	Meier-Gorlin syndrome 4
MONDO:0013432	Meier-Gorlin syndrome 5
MONDO:0013433	primary sclerosing cholangitis
MONDO:0013434	primary ciliary dyskinesia 14
MONDO:0013435	primary ciliary dyskinesia 15
MONDO:0013436	retinitis pigmentosa 39
MONDO:0013437	retinitis pigmentosa 43
MONDO:0013438	pontocerebellar hypoplasia type 2D
MONDO:0013439	congenital bile acid synthesis defect 3
MONDO:0013440	autosomal recessive limb-girdle muscular dystrophy type 2P
MONDO:0013441	asphyxiating thoracic dystrophy 4
MONDO:0013442	nephronophthisis 12
MONDO:0013443	Seckel syndrome 5
MONDO:0013444	nephronophthisis 9
MONDO:0013445	complement component 9 deficiency
MONDO:0013446	Leber congenital amaurosis 6
MONDO:0013447	retinitis pigmentosa 48
MONDO:0013449	Leber congenital amaurosis 7
MONDO:0013450	congenital stationary night blindness 1D
MONDO:0013452	multisystemic smooth muscle dysfunction syndrome
MONDO:0013453	Leber congenital amaurosis 8
MONDO:0013454	Leber congenital amaurosis 11
MONDO:0013455	hypertrophic cardiomyopathy 16
MONDO:0013456	constitutional megaloblastic anemia with severe neurologic disease
MONDO:0013457	Leber congenital amaurosis 15
MONDO:0013458	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
MONDO:0013459	osteogenesis imperfecta type 10
MONDO:0013460	osteogenesis imperfecta type 12
MONDO:0013463	dextro-looped transposition of the great arteries 3
MONDO:0013464	episodic ataxia type 5
MONDO:0013465	achromatopsia 4
MONDO:0013466	orofacial cleft 13
MONDO:0013467	immunodeficiency due to ficolin3 deficiency
MONDO:0013468	retinitis pigmentosa 59
MONDO:0013469	retinitis pigmentosa 38
MONDO:0013470	generalized epilepsy with febrile seizures plus, type 7
MONDO:0013471	autosomal recessive nonsyndromic deafness 61
MONDO:0013472	fatal infantile hypertonic myofibrillar myopathy
MONDO:0013473	Hirschsprung disease, cardiac defects, and autonomic dysfunction
MONDO:0013474	hypertrophic cardiomyopathy 17
MONDO:0013475	hypertrophic cardiomyopathy 18
MONDO:0013476	Familial hypertrophic cardiomyopathy 19
MONDO:0013477	hypertrophic cardiomyopathy 20
MONDO:0013478	PLIN1-related familial partial lipodystrophy
MONDO:0013479	dilated cardiomyopathy 1HH
MONDO:0013480	renal hypomagnesemia 6
MONDO:0013481	chromosome 13q14 deletion syndrome
MONDO:0013482	Meckel syndrome, type 8
MONDO:0013483	obesity, hyperphagia, and developmental delay
MONDO:0013484	cataract 36
MONDO:0013485	spinocerebellar ataxia type 35
MONDO:0013486	spinocerebellar ataxia type 32
MONDO:0013487	recurrent Neisseria infections due to factor D deficiency
MONDO:0013488	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
MONDO:0013489	autosomal recessive nonsyndromic deafness 89
MONDO:0013490	megalencephalic leukoencephalopathy with subcortical cysts 2A
MONDO:0013491	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
MONDO:0013492	alopecia-intellectual disability syndrome 3
MONDO:0013493	acetyl-coa carboxylase deficiency
MONDO:0013495	autosomal recessive congenital ichthyosis 8
MONDO:0013496	IgA nephropathy, susceptibility to, 2
MONDO:0013497	Okt4 epitope deficiency
MONDO:0013498	schizophrenia 15
MONDO:0013499	Fanconi anemia complementation group P
MONDO:0013500	immunodeficiency 51
MONDO:0013501	frontotemporal dementia and/or amyotrophic lateral sclerosis 6
MONDO:0013502	amyloidosis, primary localized cutaneous, 2
MONDO:0013503	candidiasis, familial, 6
MONDO:0013504	spermatogenic failure 8
MONDO:0013505	spermatogenic failure 9
MONDO:0013507	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
MONDO:0013508	myopia 19, autosomal dominant
MONDO:0013509	intellectual disability, autosomal dominant 6
MONDO:0013511	cyanosis, transient neonatal
MONDO:0013512	hemoglobin H disease
MONDO:0013513	atrial fibrillation, familial, 9
MONDO:0013514	hypotrichosis 3
MONDO:0013515	osteogenesis imperfecta type 6
MONDO:0013516	retinitis pigmentosa 60
MONDO:0013517	beta-thalassemia HBB/LCRB
MONDO:0013518	pituitary hormone deficiency, combined, 6
MONDO:0013519	dyskeratosis congenita, autosomal recessive 2
MONDO:0013520	dyskeratosis congenita, autosomal recessive 3
MONDO:0013521	dyskeratosis congenita, autosomal dominant 2
MONDO:0013522	dyskeratosis congenita, autosomal dominant 3
MONDO:0013523	Nestor-Guillermo progeria syndrome
MONDO:0013524	bleeding diathesis due to thromboxane synthesis deficiency
MONDO:0013525	primary ciliary dyskinesia 16
MONDO:0013526	progressive myoclonic epilepsy type 6
MONDO:0013527	lissencephaly 4
MONDO:0013528	intellectual disability, autosomal recessive 14
MONDO:0013529	catecholaminergic polymorphic ventricular tachycardia 3
MONDO:0013530	atrial fibrillation, familial, 10
MONDO:0013531	PSPH deficiency
MONDO:0013533	hyperlipidemia due to hepatic triglyceride lipase deficiency
MONDO:0013534	apolipoprotein c-III deficiency
MONDO:0013535	hydroxyacyl glutathione hydrolase deficiency
MONDO:0013536	heme oxygenase 1 deficiency
MONDO:0013537	autosomal recessive nonsyndromic deafness 29
MONDO:0013539	hypotonia-failure to thrive-microcephaly syndrome
MONDO:0013540	deafness-lymphedema-leukemia syndrome
MONDO:0013541	complex cortical dysplasia with other brain malformations 1
MONDO:0013542	Moyamoya disease 5
MONDO:0013543	trypsinogen deficiency
MONDO:0013544	atrial fibrillation, familial, 11
MONDO:0013545	atrial fibrillation, familial, 12
MONDO:0013546	mitochondrial complex V (ATP synthase) deficiency nuclear type 2
MONDO:0013547	mitochondrial complex V (ATP synthase) deficiency nuclear type 3
MONDO:0013548	acetyl-CoA acetyltransferase-2 deficiency
MONDO:0013549	N-acetylaspartate deficiency
MONDO:0013550	distal myopathy with posterior leg and anterior hand involvement
MONDO:0013551	hereditary spastic paraplegia 47
MONDO:0013552	hereditary spastic paraplegia 52
MONDO:0013553	immunodeficiency-centromeric instability-facial anomalies syndrome 2
MONDO:0013555	Hermansky-Pudlak syndrome 3
MONDO:0013556	Hermansky-Pudlak syndrome 4
MONDO:0013557	Hermansky-Pudlak syndrome 5
MONDO:0013558	Hermansky-Pudlak syndrome 6
MONDO:0013559	Hermansky-Pudlak syndrome 7
MONDO:0013560	Hermansky-Pudlak syndrome 8
MONDO:0013561	chondrodysplasia with joint dislocations, gPAPP type
MONDO:0013563	multiple congenital anomalies-hypotonia-seizures syndrome 1
MONDO:0013565	Fanconi anemia complementation group G
MONDO:0013566	Fanconi anemia complementation group L
MONDO:0013567	atrial septal defect 3
MONDO:0013569	short-rib thoracic dysplasia 7 with or without polydactyly
MONDO:0013570	combined oxidative phosphorylation defect type 8
MONDO:0013571	acatalasia
MONDO:0013572	Keppen-Lubinsky syndrome
MONDO:0013573	cranioectodermal dysplasia 3
MONDO:0013574	cutis laxa - Marfanoid syndrome
MONDO:0013575	plasma fibronectin deficiency
MONDO:0013576	recurrent infections associated with rare immunoglobulin isotypes deficiency
MONDO:0013577	Lipedema
MONDO:0013578	DYRK1A-related intellectual disability syndrome
MONDO:0013579	methylmalonate semialdehyde dehydrogenase deficiency
MONDO:0013580	pyruvate dehydrogenase E1-beta deficiency
MONDO:0013581	intellectual disability, autosomal dominant 2
MONDO:0013582	mosaic variegated aneuploidy syndrome 2
MONDO:0013583	occipital pachygyria and polymicrogyria
MONDO:0013584	hereditary sensory neuropathy-deafness-dementia syndrome
MONDO:0013585	hydrolethalus syndrome 2
MONDO:0013587	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
MONDO:0013588	Perrault syndrome 3
MONDO:0013589	focal segmental glomerulosclerosis 6
MONDO:0013590	Stickler syndrome, type 4
MONDO:0013591	epiphyseal dysplasia, multiple, 6
MONDO:0013592	nonsyndromic congenital nail disorder 9
MONDO:0013593	autosomal dominant nonsyndromic deafness 64
MONDO:0013594	spinocerebellar ataxia type 36
MONDO:0013595	hyperbiliverdinemia
MONDO:0013597	platelet-type bleeding disorder 14
MONDO:0013598	myostatin-related muscle hypertrophy
MONDO:0013599	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
MONDO:0013601	gluthathione peroxidase deficiency
MONDO:0013602	paragangliomas 5
MONDO:0013604	myopia 21, autosomal dominant
MONDO:0013605	brittle cornea syndrome 2
MONDO:0013606	Hermansky-Pudlak syndrome 9
MONDO:0013607	monocytopenia with susceptibility to infections
MONDO:0013608	Joubert syndrome 13
MONDO:0013609	Meckel syndrome, type 10
MONDO:0013610	retinitis pigmentosa 61
MONDO:0013611	retinitis pigmentosa 62
MONDO:0013612	Geleophysic dysplasia 2
MONDO:0013613	Leber congenital amaurosis 16
MONDO:0013614	hypertelorism-preauricular sinus-punctual pits-deafness syndrome
MONDO:0013615	craniosynostosis and dental anomalies
MONDO:0013616	pigmented nodular adrenocortical disease, primary, 3
MONDO:0013617	overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0013618	craniofacial anomalies and anterior segment dysgenesis syndrome
MONDO:0013619	nephrotic syndrome, type 6
MONDO:0013620	congenital myasthenic syndrome 16
MONDO:0013621	LAMB2-related infantile-onset nephrotic syndrome
MONDO:0013622	platelet-type bleeding disorder 9
MONDO:0013623	platelet-type bleeding disorder 11
MONDO:0013624	Rafiq syndrome
MONDO:0013625	Parkinson disease 17
MONDO:0013626	psoriasis 14, pustular
MONDO:0013627	3M syndrome 3
MONDO:0013628	hyperphosphatasia with intellectual disability syndrome 3
MONDO:0013629	intellectual disability, autosomal recessive 16
MONDO:0013630	Meckel syndrome, type 9
MONDO:0013632	autosomal dominant nonsyndromic deafness 33
MONDO:0013633	encephalopathy, acute, infection-induced, susceptibility to, 4
MONDO:0013634	neuropathy, hereditary sensory, type 2C
MONDO:0013635	Adams-Oliver syndrome 2
MONDO:0013638	Warburg micro syndrome 3
MONDO:0013640	familial retinal arterial macroaneurysm
MONDO:0013641	Warburg micro syndrome 2
MONDO:0013642	holoprosencephaly 11
MONDO:0013643	hyperuricemic nephropathy, familial juvenile type 3
MONDO:0013644	Charcot-Marie-Tooth disease axonal type 2O
MONDO:0013645	autosomal recessive spinocerebellar ataxia 11
MONDO:0013646	chromosome 8q21.11 deletion syndrome
MONDO:0013648	familial progressive hyperpigmentation
MONDO:0013649	hypotrichosis 9
MONDO:0013650	hypotrichosis 10
MONDO:0013651	intellectual disability, autosomal recessive 18
MONDO:0013652	narcolepsy 7
MONDO:0013653	Parkinson disease 18, autosomal dominant, susceptibility to
MONDO:0013655	intellectual disability, autosomal dominant 8
MONDO:0013656	intellectual disability, autosomal dominant 9
MONDO:0013657	intellectual disability, autosomal dominant 10
MONDO:0013658	intellectual disability, autosomal dominant 11
MONDO:0013659	microcephaly-capillary malformation syndrome
MONDO:0013660	arthrogryposis, Perthes disease, and upward gaze palsy
MONDO:0013661	combined malonic and methylmalonic acidemia
MONDO:0013662	Barrett esophagus
MONDO:0013663	platelet-activating factor acetylhydrolase deficiency
MONDO:0013664	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
MONDO:0013665	epilepsy, juvenile myoclonic, susceptibility to, 9
MONDO:0013666	Stickler syndrome, type 5
MONDO:0013668	tetrasomy 18p
MONDO:0013670	myopia, high, with cataract and vitreoretinal degeneration
MONDO:0013671	hydatidiform mole, recurrent, 2
MONDO:0013672	chromosome 15q25 deletion syndrome
MONDO:0013673	Wolfram-like syndrome
MONDO:0013674	neurodegeneration with brain iron accumulation 4
MONDO:0013675	multiple mitochondrial dysfunctions syndrome 2
MONDO:0013677	Emery-Dreifuss muscular dystrophy 7, autosomal dominant
MONDO:0013678	EDICT syndrome
MONDO:0013679	sclerosteosis 2
MONDO:0013680	cognitive impairment with or without cerebellar ataxia
MONDO:0013681	alpha-methylacyl-CoA racemase deficiency
MONDO:0013686	distal myopathy, Tateyama type
MONDO:0013687	autosomal recessive spinocerebellar ataxia 12
MONDO:0013688	linear and whorled nevoid hypermelanosis
MONDO:0013689	ovarian dysgenesis 3
MONDO:0013690	Pitt-Hopkins-like syndrome 2
MONDO:0013691	Feingold syndrome type 2
MONDO:0013692	BAP1-related tumor predisposition syndrome
MONDO:0013693	inflammatory skin and bowel disease, neonatal, 1
MONDO:0013694	intellectual disability, autosomal recessive 31
MONDO:0013695	colorectal cancer, hereditary nonpolyposis, type 6
MONDO:0013697	intellectual disability, autosomal recessive 29
MONDO:0013698	arthrogryposis, distal, type 1B
MONDO:0013699	colorectal cancer, hereditary nonpolyposis, type 4
MONDO:0013700	pancreatic triacylglycerol lipase deficiency
MONDO:0013702	intellectual disability, autosomal recessive 27
MONDO:0013703	intellectual disability, autosomal recessive 33
MONDO:0013704	intellectual disability, autosomal recessive 30
MONDO:0013705	intellectual disability, autosomal recessive 19
MONDO:0013706	intellectual disability, autosomal recessive 23
MONDO:0013707	intellectual disability, autosomal recessive 24
MONDO:0013708	intellectual disability, autosomal recessive 25
MONDO:0013709	intellectual disability, autosomal recessive 28
MONDO:0013710	colorectal cancer, hereditary nonpolyposis, type 5
MONDO:0013711	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MONDO:0013712	surfactant metabolism dysfunction, pulmonary, 5
MONDO:0013714	mannose-binding lectin deficiency
MONDO:0013715	amyotrophic lateral sclerosis type 16
MONDO:0013717	asphyxiating thoracic dystrophy 5
MONDO:0013718	nephronophthisis 13
MONDO:0013719	cranioectodermal dysplasia 4
MONDO:0013720	complement component 4b deficiency
MONDO:0013721	complement component 4a deficiency
MONDO:0013722	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
MONDO:0013725	colorectal cancer, hereditary nonpolyposis, type 7
MONDO:0013726	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
MONDO:0013730	graft versus host disease
MONDO:0013731	MEGF10-Related Myopathy
MONDO:0013734	microphthalmia, syndromic 11
MONDO:0013735	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
MONDO:0013737	hereditary spastic paraplegia 46
MONDO:0013738	autosomal recessive nonsyndromic deafness 96
MONDO:0013739	chilblain lupus 2
MONDO:0013740	lethal occipital encephalocele-skeletal dysplasia syndrome
MONDO:0013741	familial temporal lobe epilepsy 5
MONDO:0013743	autosomal systemic lupus erythematosus type 16
MONDO:0013744	cataract 37
MONDO:0013745	Joubert syndrome 14
MONDO:0013746	ventricular septal defect 1
MONDO:0013747	atrioventricular septal defect 4
MONDO:0013748	ventricular septal defect 2
MONDO:0013749	ventricular septal defect 3
MONDO:0013750	atrial septal defect 8
MONDO:0013751	cutis laxa, autosomal dominant 2
MONDO:0013752	hypoplastic left heart syndrome 2
MONDO:0013753	Charcot-Marie-Tooth disease axonal type 2P
MONDO:0013754	cutis laxa, autosomal recessive, type 1B
MONDO:0013755	PYCR1-related de Barsy syndrome
MONDO:0013756	hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MONDO:0013757	congenital nongoitrous hypothryoidism 6
MONDO:0013758	Charcot-Marie-Tooth disease dominant intermediate E
MONDO:0013759	MITF-related melanoma and renal cell carcinoma predisposition syndrome
MONDO:0013760	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
MONDO:0013761	childhood encephalopathy due to thiamine pyrophosphokinase deficiency
MONDO:0013762	lipoic acid synthetase deficiency
MONDO:0013763	Joubert syndrome 15
MONDO:0013764	Joubert syndrome 16
MONDO:0013766	familial cold autoinflammatory syndrome 3
MONDO:0013767	autoimmune lymphoproliferative syndrome type 4
MONDO:0013768	arterial calcification, generalized, of infancy, 2
MONDO:0013769	atrioventricular septal defect 5
MONDO:0013770	atrial septal defect 9
MONDO:0013771	transient infantile hypertriglyceridemia and hepatosteatosis
MONDO:0013772	congenital cataract-hearing loss-severe developmental delay syndrome
MONDO:0013773	porencephaly 2
MONDO:0013774	trigonocephaly 2
MONDO:0013775	thrombomodulin-related bleeding disorder
MONDO:0013776	spastic ataxia 5
MONDO:0013777	pseudohypoaldosteronism type 2B
MONDO:0013778	pseudohypoaldosteronism type 2C
MONDO:0013779	Wiskott-Aldrich syndrome 2
MONDO:0013780	retinitis pigmentosa 63
MONDO:0013781	pseudohypoaldosteronism type 2D
MONDO:0013782	pseudohypoaldosteronism type 2E
MONDO:0013783	microphthalmia, isolated, with coloboma 7
MONDO:0013784	lethal neonatal spasticity-epileptic encephalopathy syndrome
MONDO:0013785	intellectual disability, autosomal recessive 34
MONDO:0013786	cone-rod dystrophy 16
MONDO:0013787	psychomotor retardation, epilepsy, and craniofacial dysmorphism
MONDO:0013788	Usher syndrome type 3B
MONDO:0013789	DDOST-CDG
MONDO:0013790	mirror movements 2
MONDO:0013791	thrombophilia due to protein S deficiency, autosomal recessive
MONDO:0013793	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
MONDO:0013794	thrombocythemia 3
MONDO:0013795	fibrochondrogenesis 2
MONDO:0013796	chromosome 17q12 duplication syndrome
MONDO:0013797	chromosome 17q12 deletion syndrome
MONDO:0013798	chromosome 16q22 deletion syndrome
MONDO:0013800	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
MONDO:0013801	developmental and epileptic encephalopathy, 13
MONDO:0013802	infantile cerebellar-retinal degeneration
MONDO:0013803	leukoencephalopathy with calcifications and cysts
MONDO:0013805	intellectual disability, autosomal dominant 13
MONDO:0013806	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
MONDO:0013807	congenital stationary night blindness 1E
MONDO:0013808	Maffucci syndrome
MONDO:0013809	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
MONDO:0013810	COG6-CGD
MONDO:0013811	combined oxidative phosphorylation defect type 9
MONDO:0013812	Baraitser-winter syndrome 2
MONDO:0013813	dystonia 21
MONDO:0013815	FGFR2-related bent bone dysplasia
MONDO:0013817	preeclampsia/eclampsia 5
MONDO:0013818	trichohepatoenteric syndrome 2
MONDO:0013819	intellectual disability, autosomal dominant 14
MONDO:0013820	intellectual disability, autosomal dominant 15
MONDO:0013821	intellectual disability, autosomal dominant 16
MONDO:0013822	acrodysostosis 2 with or without hormone resistance
MONDO:0013823	autosomal dominant nonsyndromic deafness 4B
MONDO:0013824	Joubert syndrome 17
MONDO:0013825	congenital diarrhea 6
MONDO:0013826	autosomal recessive nonsyndromic deafness 86
MONDO:0013827	hyperekplexia 3
MONDO:0013828	hyperekplexia 2
MONDO:0013829	UV-sensitive syndrome 2
MONDO:0013830	keratoconus 5
MONDO:0013831	keratoconus 6
MONDO:0013832	keratoconus 8
MONDO:0013833	keratoconus 7
MONDO:0013834	UV-sensitive syndrome 3
MONDO:0013835	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
MONDO:0013836	familial steroid-resistant nephrotic syndrome with sensorineural deafness
MONDO:0013837	deafness-encephaloneuropathy-obesity-valvulopathy syndrome
MONDO:0013838	coenzyme Q10 deficiency, primary, 3
MONDO:0013839	hereditary sensory and autonomic neuropathy type 6
MONDO:0013840	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
MONDO:0013842	cortisone reductase deficiency 2
MONDO:0013843	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
MONDO:0013845	auriculocondylar syndrome 2
MONDO:0013847	chromosome 16p11.2 duplication syndrome
MONDO:0013848	dilated cardiomyopathy 2B
MONDO:0013849	microcephaly 8, primary, autosomal recessive
MONDO:0013851	autosomal dominant aplasia and myelodysplasia
MONDO:0013852	hypertrophic cardiomyopathy 21
MONDO:0013853	pontocerebellar hypoplasia type 1B
MONDO:0013854	primary ciliary dyskinesia 17
MONDO:0013856	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes
MONDO:0013857	alar cleft, isolated
MONDO:0013858	pontine tegmental cap dysplasia
MONDO:0013859	cataract 38
MONDO:0013862	immunodeficiency, common variable, 7
MONDO:0013863	combined immunodeficiency due to LRBA deficiency
MONDO:0013864	Cornelia de Lange syndrome 4
MONDO:0013865	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
MONDO:0013866	neuronal ceroid lipofuscinosis 11
MONDO:0013867	brown-Vialetto-van Laere syndrome 2
MONDO:0013868	porokeratosis 7, disseminated superficial actinic type
MONDO:0013869	adenine phosphoribosyltransferase deficiency
MONDO:0013870	TMEM165-CDG
MONDO:0013871	Seckel syndrome 6
MONDO:0013873	IMAGe syndrome
MONDO:0013874	glucocorticoid deficiency 4
MONDO:0013875	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
MONDO:0013877	mitochondrial pyruvate carrier deficiency
MONDO:0013878	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
MONDO:0013879	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
MONDO:0013880	facial paresis, hereditary congenital, 3
MONDO:0013881	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome
MONDO:0013882	hyperphosphatasia with intellectual disability syndrome 2
MONDO:0013883	congenital myasthenic syndrome 13
MONDO:0013884	neuronopathy, distal hereditary motor, type 5B
MONDO:0013885	Malan overgrowth syndrome
MONDO:0013886	nonprogressive cerebellar atxia with intellectual disability
MONDO:0013887	heterotaxy, visceral, 6, autosomal
MONDO:0013888	tremor, hereditary essential, 4
MONDO:0013889	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
MONDO:0013890	congenital myopathy with internal nuclei and atypical cores
MONDO:0013891	amyotrophic lateral sclerosis type 18
MONDO:0013892	C3 glomerulonephritis
MONDO:0013894	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
MONDO:0013895	Adams-Oliver syndrome 3
MONDO:0013896	Joubert syndrome 18
MONDO:0013897	Loeys-Dietz syndrome 4
MONDO:0013898	karyomegalic interstitial nephritis
MONDO:0013899	Weill-Marchesani syndrome 3
MONDO:0013900	alternating hemiplegia of childhood 2
MONDO:0013901	spermatogenic failure 10
MONDO:0013902	aortic valve disease 2
MONDO:0013903	nystagmus 7, congenital, autosomal dominant
MONDO:0013904	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
MONDO:0013905	autosomal recessive spinocerebellar ataxia 13
MONDO:0013906	amelogenesis imperfecta hypomaturation type 2A4
MONDO:0013907	bilateral generalized polymicrogyria
MONDO:0013910	hypogonadotropic hypogonadism 8 with or without anosmia
MONDO:0013911	hypogonadotropic hypogonadism 9 with or without anosmia
MONDO:0013912	hypogonadotropic hypogonadism 10 with or without anosmia
MONDO:0013913	hypogonadotropic hypogonadism 11 with or without anosmia
MONDO:0013914	hypogonadotropic hypogonadism 12 with or without anosmia
MONDO:0013915	hypogonadotropic hypogonadism 13 with or without anosmia
MONDO:0013916	nephronophthisis 14
MONDO:0013917	nephronophthisis 15
MONDO:0013918	distal tetrasomy 15q
MONDO:0013919	epilepsy, idiopathic generalized, susceptibility to, 12
MONDO:0013921	herpes simplex encephalitis, susceptibility to, 4
MONDO:0013922	Seckel syndrome 7
MONDO:0013923	microcephaly 9, primary, autosomal recessive
MONDO:0013924	osteogenesis imperfecta type 13
MONDO:0013925	methylmalonic acidemia with homocystinuria, type cblJ
MONDO:0013926	hypogonadotropic hypogonadism 14 with or without anosmia
MONDO:0013927	peroxisome biogenesis disorder 3A (Zellweger)
MONDO:0013928	dystonia 23
MONDO:0013929	autosomal recessive nonsyndromic deafness 98
MONDO:0013930	peroxisome biogenesis disorder 4A (Zellweger)
MONDO:0013931	peroxisome biogenesis disorder 4B
MONDO:0013932	peroxisome biogenesis disorder 5A (Zellweger)
MONDO:0013933	peroxisome biogenesis disorder 5B
MONDO:0013934	combined immunodeficiency due to STK4 deficiency
MONDO:0013935	Usher syndrome type 1J
MONDO:0013936	peroxisome biogenesis disorder 6A (Zellweger)
MONDO:0013937	peroxisome biogenesis disorder 6B
MONDO:0013938	peroxisome biogenesis disorder 7A (Zellweger)
MONDO:0013939	peroxisome biogenesis disorder 7B
MONDO:0013940	primary ciliary dyskinesia 18
MONDO:0013942	peroxisome biogenesis disorder 8A (Zellweger)
MONDO:0013943	peroxisome biogenesis disorder 8B
MONDO:0013944	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
MONDO:0013945	peroxisome biogenesis disorder 9B
MONDO:0013946	hypogonadotropic hypogonadism 15 with or without anosmia
MONDO:0013947	young adult-onset distal hereditary motor neuropathy
MONDO:0013948	peroxisome biogenesis disorder 10A (Zellweger)
MONDO:0013949	peroxisome biogenesis disorder 11A (Zellweger)
MONDO:0013950	peroxisome biogenesis disorder 11B
MONDO:0013951	peroxisome biogenesis disorder 12A (Zellweger)
MONDO:0013952	peroxisome biogenesis disorder 13A (Zellweger)
MONDO:0013953	immunodeficiency 28
MONDO:0013954	mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
MONDO:0013955	mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MONDO:0013956	mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
MONDO:0013957	mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
MONDO:0013959	Charcot-Marie-Tooth disease type 4F
MONDO:0013960	sinoatrial node dysfunction and deafness
MONDO:0013961	hypogonadotropic hypogonadism 16 with or without anosmia
MONDO:0013962	hereditary spastic paraplegia 53
MONDO:0013963	autosomal recessive nonsyndromic deafness 93
MONDO:0013964	Diamond-Blackfan anemia 11
MONDO:0013965	lethal congenital contracture syndrome 4
MONDO:0013966	catecholaminergic polymorphic ventricular tachycardia 4
MONDO:0013967	peroxisome biogenesis disorder 14B
MONDO:0013968	PGM1-CDG
MONDO:0013969	combined oxidative phosphorylation defect type 11
MONDO:0013970	branched-chain keto acid dehydrogenase kinase deficiency
MONDO:0013971	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
MONDO:0013972	Perrault syndrome 2
MONDO:0013973	ectodermal dysplasia 5, hair/nail type
MONDO:0013974	ectodermal dysplasia 6, hair/nail type
MONDO:0013975	ectodermal dysplasia 7, hair/nail type
MONDO:0013976	ectodermal dysplasia 9, hair/nail type
MONDO:0013977	combined oxidative phosphorylation defect type 13
MONDO:0013978	autosomal recessive nonsyndromic deafness 70
MONDO:0013979	primary ciliary dyskinesia 19
MONDO:0013980	palmoplantar keratoderma, punctate type ib
MONDO:0013982	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
MONDO:0013983	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
MONDO:0013984	autosomal recessive nonsyndromic deafness 84B
MONDO:0013985	autosomal recessive nonsyndromic deafness 18B
MONDO:0013986	combined oxidative phosphorylation defect type 14
MONDO:0013987	combined oxidative phosphorylation defect type 15
MONDO:0013988	congenital heart defects, multiple types, 3
MONDO:0013989	developmental and epileptic encephalopathy, 14
MONDO:0013990	pontocerebellar hypoplasia type 8
MONDO:0013991	obesity due to congenital leptin deficiency
MONDO:0013992	obesity due to leptin receptor gene deficiency
MONDO:0013993	pontocerebellar hypoplasia type 7
MONDO:0013994	Joubert syndrome 20
MONDO:0013995	cholestasis, intrahepatic, of pregnancy 3
MONDO:0013996	focal facial dermal dysplasia type II
MONDO:0013997	focal facial dermal dysplasia type IV
MONDO:0013998	MEGF8-related Carpenter syndrome
MONDO:0013999	optic nerve edema-splenomegaly syndrome
MONDO:0014000	congenital heart defects, multiple types, 2
MONDO:0014001	Usher syndrome type 1K
MONDO:0014002	autosomal dominant nocturnal frontal lobe epilepsy 5
MONDO:0014003	developmental and epileptic encephalopathy, 15
MONDO:0014004	basal ganglia calcification, idiopathic, 4
MONDO:0014005	immunoglobulin-mediated membranoproliferative glomerulonephritis
MONDO:0014006	Schuurs-Hoeijmakers syndrome
MONDO:0014007	Aicardi-Goutieres syndrome 6
MONDO:0014009	autosomal recessive congenital ichthyosis 7
MONDO:0014010	autosomal recessive congenital ichthyosis 9
MONDO:0014011	autosomal recessive congenital ichthyosis 10
MONDO:0014012	Charcot-Marie-Tooth disease axonal type 2Q
MONDO:0014014	epidermolysis bullosa simplex due to exophilin 5 deficiency
MONDO:0014015	hereditary spastic paraplegia 56
MONDO:0014016	hereditary spastic paraplegia 49
MONDO:0014018	hereditary spastic paraplegia 54
MONDO:0014019	dystonia 24
MONDO:0014020	hereditary spastic paraplegia 55
MONDO:0014021	familial episodic pain syndrome with predominantly upper body involvement
MONDO:0014022	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
MONDO:0014023	congenital muscular dystrophy with intellectual disability and severe epilepsy
MONDO:0014024	hereditary spastic paraplegia 43
MONDO:0014025	lower motor neuron syndrome with late-adult onset
MONDO:0014026	congenital stationary night blindness 1F
MONDO:0014027	hypotrichosis 11
MONDO:0014028	distal arthrogryposis type 5D
MONDO:0014029	osteogenesis imperfecta type 14
MONDO:0014030	primary ciliary dyskinesia 20
MONDO:0014031	microcephalic primordial dwarfism, Alazami type
MONDO:0014032	brachydactyly type A1C
MONDO:0014033	dystonia 25
MONDO:0014034	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
MONDO:0014035	severe intellectual disability-progressive spastic diplegia syndrome
MONDO:0014037	spermatogenic failure 11
MONDO:0014039	mitochondrial DNA depletion syndrome 11
MONDO:0014040	autosomal recessive osteopetrosis 8
MONDO:0014042	left ventricular noncompaction 7
MONDO:0014043	microcephalic primordial dwarfism due to ZNF335 deficiency
MONDO:0014044	dysmorphism-conductive hearing loss-heart defect syndrome
MONDO:0014045	Cowden syndrome 3
MONDO:0014046	Cowden syndrome 4
MONDO:0014047	Cowden syndrome 5
MONDO:0014048	Cowden syndrome 6
MONDO:0014049	urofacial syndrome 2
MONDO:0014050	isolated microphthalmia 8
MONDO:0014051	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
MONDO:0014052	congenital myasthenic syndrome 8
MONDO:0014054	lymphoproliferative syndrome 2
MONDO:0014055	epilepsy, familial adult myoclonic, 4
MONDO:0014056	melanoma, cutaneous malignant, susceptibility to, 9
MONDO:0014058	facial dysmorphism-immunodeficiency-livedo-short stature syndrome
MONDO:0014059	microphthalmia, isolated, with coloboma 9
MONDO:0014060	progressive retinal dystrophy due to retinol transport defect
MONDO:0014061	Steel syndrome
MONDO:0014062	mitochondrial DNA deletion syndrome with progressive myopathy
MONDO:0014063	mitochondrial complex III deficiency nuclear type 2
MONDO:0014064	mitochondrial complex III deficiency nuclear type 3
MONDO:0014065	mitochondrial complex III deficiency nuclear type 4
MONDO:0014066	mitochondrial complex III deficiency nuclear type 5
MONDO:0014067	short ulna-dysmorphism-hypotonia-intellectual disability syndrome
MONDO:0014068	cone-rod dystrophy 17
MONDO:0014069	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
MONDO:0014070	oculocutaneous albinism type 7
MONDO:0014071	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
MONDO:0014072	D,L-2-hydroxyglutaric aciduria
MONDO:0014073	dilated cardiomyopathy 1II
MONDO:0014074	Charcot-Marie-Tooth disease dominant intermediate F
MONDO:0014075	cataract 39 multiple types
MONDO:0014076	dyskeratosis congenita, autosomal recessive 5
MONDO:0014077	cobblestone lissencephaly without muscular or ocular involvement
MONDO:0014078	platelet-type bleeding disorder 15
MONDO:0014080	osteosclerotic metaphyseal dysplasia
MONDO:0014081	severe combined immunodeficiency due to CARD11 deficiency
MONDO:0014082	cryptosporidiosis-chronic cholangitis-liver disease syndrome
MONDO:0014083	agammaglobulinemia 7, autosomal recessive
MONDO:0014084	ataxia with oculomotor apraxia type 3
MONDO:0014085	hydrocephalus, nonsyndromic, autosomal recessive 2
MONDO:0014086	osteogenesis imperfecta type 15
MONDO:0014087	Smith-McCort dysplasia 2
MONDO:0014088	advanced sleep phase syndrome 2
MONDO:0014089	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
MONDO:0014090	polydactyly, postaxial, type A6
MONDO:0014091	mitochondrial complex V (ATP synthase) deficiency nuclear type 4
MONDO:0014093	retinitis pigmentosa 66
MONDO:0014094	severe congenital hypochromic anemia with ringed sideroblasts
MONDO:0014095	dilated cardiomyopathy 1JJ
MONDO:0014096	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
MONDO:0014097	congenital short bowel syndrome
MONDO:0014098	CIDEC-related familial partial lipodystrophy
MONDO:0014099	nephrotic syndrome, type 8
MONDO:0014100	dilated cardiomyopathy 1KK
MONDO:0014101	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
MONDO:0014102	hypogonadotropic hypogonadism 17 with or without anosmia
MONDO:0014103	hypogonadotropic hypogonadism 18 with or without anosmia
MONDO:0014104	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
MONDO:0014105	hypogonadotropic hypogonadism 19 with or without anosmia
MONDO:0014106	hypogonadotropic hypogonadism 20 with or without anosmia
MONDO:0014107	hypogonadotropic hypogonadism 21 with or without anosmia
MONDO:0014108	Fanconi anemia complementation group Q
MONDO:0014109	NGLY1-deficiency
MONDO:0014110	cataract 15 multiple types
MONDO:0014111	cataract 19 multiple types
MONDO:0014112	cardiofaciocutaneous syndrome 2
MONDO:0014113	cardiofaciocutaneous syndrome 3
MONDO:0014114	cardiofaciocutaneous syndrome 4
MONDO:0014115	hypomyelination with brain stem and spinal cord involvement and leg spasticity
MONDO:0014116	complex cortical dysplasia with other brain malformations 2
MONDO:0014117	Charcot-Marie-Tooth disease type 4B3
MONDO:0014118	congenital neutropenia-myelofibrosis-nephromegaly syndrome
MONDO:0014119	intellectual disability-strabismus syndrome
MONDO:0014120	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MONDO:0014121	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
MONDO:0014122	myofibromatosis, infantile, 2
MONDO:0014123	primary ciliary dyskinesia 21
MONDO:0014124	Adams-Oliver syndrome 4
MONDO:0014125	symphalangism, proximal, 1B
MONDO:0014126	Perrault syndrome 4
MONDO:0014127	oculocutaneous albinism type 5
MONDO:0014128	TCF12-related craniosynostosis
MONDO:0014129	autosomal recessive limb-girdle muscular dystrophy type 2R
MONDO:0014130	Dowling-Degos disease 2
MONDO:0014131	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
MONDO:0014132	multiple mitochondrial dysfunctions syndrome 3
MONDO:0014133	developmental and epileptic encephalopathy, 16
MONDO:0014134	pulmonary hypertension, primary, 2
MONDO:0014135	pulmonary hypertension, primary, 3
MONDO:0014136	pulmonary hypertension, primary, 4
MONDO:0014137	precocious puberty, central, 2
MONDO:0014138	nemaline myopathy 8
MONDO:0014139	Ehlers-Danlos syndrome, progeroid type, 2
MONDO:0014140	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
MONDO:0014141	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MONDO:0014142	autosomal recessive limb-girdle muscular dystrophy type 2T
MONDO:0014143	Noonan syndrome 8
MONDO:0014144	autosomal recessive limb-girdle muscular dystrophy type 2S
MONDO:0014145	Leber congenital amaurosis 17
MONDO:0014146	autosomal dominant hypocalcemia 2
MONDO:0014147	neuronal ceroid lipofuscinosis 13
MONDO:0014148	estrogen resistance syndrome
MONDO:0014149	fetal akinesia-cerebral and retinal hemorrhage syndrome
MONDO:0014150	childhood onset epileptic encephalopathy
MONDO:0014152	left ventricular noncompaction 8
MONDO:0014153	cone-rod dystrophy 18
MONDO:0014154	Charcot-Marie-Tooth disease recessive intermediate C
MONDO:0014155	atrial fibrillation, familial, 13
MONDO:0014156	atrial fibrillation, familial, 14
MONDO:0014157	mandibular hypoplasia-deafness-progeroid syndrome
MONDO:0014158	nephronophthisis 16
MONDO:0014159	autosomal recessive spinocerebellar ataxia 14
MONDO:0014160	TCR-alpha-beta-positive T-cell deficiency
MONDO:0014162	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
MONDO:0014163	left ventricular noncompaction 10
MONDO:0014164	Meckel syndrome, type 11
MONDO:0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3
MONDO:0014166	paroxysmal nocturnal hemoglobinuria 2
MONDO:0014167	epilepsy, familial adult myoclonic, 5
MONDO:0014168	severe combined immunodeficiency due to CORO1A deficiency
MONDO:0014169	dyschromatosis universalis hereditaria 3
MONDO:0014170	complex cortical dysplasia with other brain malformations 3
MONDO:0014171	complex cortical dysplasia with other brain malformations 4
MONDO:0014172	spermatogenic failure 12
MONDO:0014173	microcephaly 11, primary, autosomal recessive
MONDO:0014174	renal-hepatic-pancreatic dysplasia 2
MONDO:0014175	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
MONDO:0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies
MONDO:0014177	myopia 22, autosomal dominant
MONDO:0014178	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
MONDO:0014179	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
MONDO:0014180	epidermolysis bullosa simplex due to BP230 deficiency
MONDO:0014181	amyotrophic lateral sclerosis type 20
MONDO:0014182	autosomal recessive nonsyndromic deafness 88
MONDO:0014183	myopia 23, autosomal recessive
MONDO:0014184	specific language impairment 5
MONDO:0014185	chromosome 3q13.31 deletion syndrome
MONDO:0014186	retinitis pigmentosa with or without situs inversus
MONDO:0014187	aortic aneurysm, familial thoracic 8
MONDO:0014189	age related macular degeneration 13
MONDO:0014190	combined oxidative phosphorylation defect type 17
MONDO:0014191	catecholaminergic polymorphic ventricular tachycardia 5
MONDO:0014192	primary ciliary dyskinesia 22
MONDO:0014193	primary ciliary dyskinesia 23
MONDO:0014194	mitochondrial complex III deficiency nuclear type 6
MONDO:0014195	microcornea-myopic chorioretinal atrophy
MONDO:0014196	Hartsfield-Bixler-Demyer syndrome
MONDO:0014197	combined immunodeficiency due to MALT1 deficiency
MONDO:0014198	mitochondrial DNA depletion syndrome 13
MONDO:0014199	developmental and epileptic encephalopathy, 17
MONDO:0014200	aldosterone-producing adenoma with seizures and neurological abnormalities
MONDO:0014201	developmental and epileptic encephalopathy, 18
MONDO:0014202	primary ciliary dyskinesia 24
MONDO:0014203	primary ciliary dyskinesia 25
MONDO:0014204	basal ganglia calcification, idiopathic, 5
MONDO:0014205	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
MONDO:0014206	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MONDO:0014208	Charcot-Marie-Tooth disease type 2R
MONDO:0014209	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MONDO:0014210	intellectual disability-hypotonia-spasticity-sleep disorder syndrome
MONDO:0014211	primary ciliary dyskinesia 26
MONDO:0014212	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
MONDO:0014213	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
MONDO:0014214	short-rib thoracic dysplasia 8 with or without polydactyly
MONDO:0014215	primary ciliary dyskinesia 27
MONDO:0014216	primary ciliary dyskinesia 28
MONDO:0014217	telangiectasia, hereditary hemorrhagic, type 5
MONDO:0014218	severe dermatitis-multiple allergies-metabolic wasting syndrome
MONDO:0014219	alacrima, achalasia, and intellectual disability syndrome
MONDO:0014220	myopathy due to myoadenylate deaminase deficiency
MONDO:0014221	triosephosphate isomerase deficiency
MONDO:0014222	immunodeficiency 14
MONDO:0014223	amyotrophic lateral sclerosis type 19
MONDO:0014224	developmental delay with autism spectrum disorder and gait instability
MONDO:0014225	hemochromatosis type 5
MONDO:0014226	idiopathic CD4 lymphocytopenia
MONDO:0014227	hypopigmentation-punctate palmoplantar keratoderma syndrome
MONDO:0014228	corneal dystrophy, Fuchs endothelial, 8
MONDO:0014229	microphthalmia, syndromic 12
MONDO:0014230	candidiasis, familial, 8
MONDO:0014231	juvenile onset Parkinson disease 19A
MONDO:0014232	craniosynostosis 5, susceptibility to
MONDO:0014233	early-onset Parkinson disease 20
MONDO:0014234	reticulate acropigmentation of Kitamura
MONDO:0014235	chromosome 22q13 duplication syndrome
MONDO:0014236	Ehlers-Danlos syndrome, musculocontractural type 2
MONDO:0014237	autosomal recessive nonsyndromic deafness 76
MONDO:0014238	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
MONDO:0014239	testicular anomalies with or without congenital heart disease
MONDO:0014240	periventricular nodular heterotopia 6
MONDO:0014242	van Maldergem syndrome 2
MONDO:0014243	Schaaf-Yang syndrome
MONDO:0014244	hereditary sensory and autonomic neuropathy type 7
MONDO:0014245	Diamond-Blackfan anemia 12
MONDO:0014246	episodic pain syndrome, familial, 2
MONDO:0014247	familial episodic pain syndrome with predominantly lower limb involvement
MONDO:0014248	autism spectrum disorder - epilepsy - arthrogryposis syndrome
MONDO:0014249	multiple fibroadenoma of the breast
MONDO:0014250	familial hyperprolactinemia
MONDO:0014252	familial hypobetalipoproteinemia 1
MONDO:0014253	autoimmune lymphoproliferative syndrome type 3
MONDO:0014254	otofaciocervical syndrome 2
MONDO:0014255	complement factor b deficiency
MONDO:0014256	retinitis pigmentosa 67
MONDO:0014257	nephrotic syndrome, type 9
MONDO:0014258	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
MONDO:0014259	neuronopathy, distal hereditary motor, type 2D
MONDO:0014260	immunodeficiency, common variable, 10
MONDO:0014261	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
MONDO:0014262	Rienhoff syndrome
MONDO:0014263	8q24.3 microdeletion syndrome
MONDO:0014264	otosclerosis 10
MONDO:0014267	severe combined immunodeficiency due to IKK2 deficiency
MONDO:0014268	combined immunodeficiency due to OX40 deficiency
MONDO:0014269	combined oxidative phosphorylation deficiency 19
MONDO:0014270	STT3A-CDG
MONDO:0014271	STT3B-CDG
MONDO:0014272	palmoplantar keratoderma, Nagashima type
MONDO:0014273	microcephaly-thin corpus callosum-intellectual disability syndrome
MONDO:0014274	L-ferritin deficiency
MONDO:0014275	Fanconi renotubular syndrome 3
MONDO:0014276	combined immunodeficiency due to CD3gamma deficiency
MONDO:0014277	developmental dysplasia of the hip 2
MONDO:0014278	immunodeficiency 18
MONDO:0014280	immunodeficiency 19
MONDO:0014281	cholangiocarcinoma, susceptibility to
MONDO:0014282	hereditary spastic paraplegia 72
MONDO:0014283	autosomal dominant nonsyndromic deafness 56
MONDO:0014284	short-rib thoracic dysplasia 10 with or without polydactyly
MONDO:0014285	congenital dyserythropoietic anemia type type 1B
MONDO:0014286	neuropathy, hereditary sensory, type 1F
MONDO:0014287	short-rib thoracic dysplasia 11 with or without polydactyly
MONDO:0014288	Joubert syndrome 21
MONDO:0014289	macrocephaly-developmental delay syndrome
MONDO:0014290	neurodegeneration with brain iron accumulation 6
MONDO:0014291	autosomal dominant nonsyndromic deafness 54
MONDO:0014292	leukoencephalopathy with mild cerebellar ataxia and white matter edema
MONDO:0014293	autosomal dominant nonsyndromic deafness 58
MONDO:0014294	chromosome 15q11.2 deletion syndrome
MONDO:0014295	hereditary spastic paraplegia 57
MONDO:0014296	Warburg micro syndrome 4
MONDO:0014297	Joubert syndrome 22
MONDO:0014298	chromosome 5q12 deletion syndrome
MONDO:0014299	schwannomatosis 2
MONDO:0014300	proximal myopathy with extrapyramidal signs
MONDO:0014301	dowling-degos disease 3
MONDO:0014302	hereditary spastic paraplegia 62
MONDO:0014303	hereditary spastic paraplegia 64
MONDO:0014304	hereditary spastic paraplegia 61
MONDO:0014305	hereditary spastic paraplegia 63
MONDO:0014306	vasculitis due to ADA2 deficiency
MONDO:0014307	Dowling-Degos disease 4
MONDO:0014308	familial temporal lobe epilepsy 6
MONDO:0014309	obesity due to CEP19 deficiency
MONDO:0014310	hereditary sclerosing poikiloderma with tendon and pulmonary involvement
MONDO:0014311	autosomal recessive spinocerebellar ataxia 15
MONDO:0014312	auriculocondylar syndrome 3
MONDO:0014313	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
MONDO:0014314	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
MONDO:0014317	pancytopenia-developmental delay syndrome
MONDO:0014318	hyperphosphatasia with intellectual disability syndrome 4
MONDO:0014319	renal hypodysplasia/aplasia 2
MONDO:0014320	optic atrophy-intellectual disability syndrome
MONDO:0014321	premature ovarian failure 8
MONDO:0014322	premature ovarian failure 9
MONDO:0014323	retinitis pigmentosa 68
MONDO:0014324	pachyonychia congenita 3
MONDO:0014325	pachyonychia congenita 4
MONDO:0014326	nemaline myopathy 9
MONDO:0014327	palmoplantar keratoderma, nonepidermolytic, focal or diffuse
MONDO:0014328	developmental and epileptic encephalopathy, 19
MONDO:0014329	atrial standstill 2
MONDO:0014331	Moyamoya disease with early-onset achalasia
MONDO:0014332	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MONDO:0014333	polymicrogyria, bilateral perisylvian, autosomal recessive
MONDO:0014334	severe combined immunodeficiency due to LCK deficiency
MONDO:0014335	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
MONDO:0014336	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
MONDO:0014337	complex cortical dysplasia with other brain malformations 5
MONDO:0014338	IL21-related infantile inflammatory bowel disease
MONDO:0014339	autosomal recessive spinocerebellar ataxia 16
MONDO:0014340	atrial fibrillation, familial, 15
MONDO:0014341	complex cortical dysplasia with other brain malformations 6
MONDO:0014342	female infertility due to zona pellucida defect
MONDO:0014343	Desbuquois dysplasia 2
MONDO:0014344	congenital heart defects, multiple types, 4
MONDO:0014345	retinitis pigmentosa 69
MONDO:0014346	white sponge nevus 2
MONDO:0014347	short stature with microcephaly and distinctive facies
MONDO:0014348	intellectual disability, autosomal recessive 42
MONDO:0014349	pontocerebellar hypoplasia type 10
MONDO:0014350	Seckel syndrome 8
MONDO:0014351	pontocerebellar hypoplasia type 9
MONDO:0014352	abdominal obesity-metabolic syndrome 3
MONDO:0014353	PGM3-CDG
MONDO:0014354	intellectual disability, autosomal recessive 43
MONDO:0014355	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
MONDO:0014356	mitochondrial complex III deficiency nuclear type 7
MONDO:0014357	intellectual disability, autosomal dominant 24
MONDO:0014358	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
MONDO:0014359	pigmented nodular adrenocortical disease, primary, 4
MONDO:0014360	developmental and epileptic encephalopathy, 21
MONDO:0014361	autism spectrum disorder due to AUTS2 deficiency
MONDO:0014363	autosomal recessive nonsyndromic deafness 101
MONDO:0014364	mitochondrial complex III deficiency nuclear type 8
MONDO:0014365	spermatogenic failure 13
MONDO:0014366	spermatogenic failure 14
MONDO:0014367	Aicardi-Goutieres syndrome 7
MONDO:0014368	melanoma, cutaneous malignant, susceptibility to, 10
MONDO:0014369	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
MONDO:0014370	pontocerebellar hypoplasia type 2E
MONDO:0014371	developmental and epileptic encephalopathy, 23
MONDO:0014372	cone-rod dystrophy 19
MONDO:0014373	nephrotic syndrome, type 10
MONDO:0014374	nephronophthisis 18
MONDO:0014375	congenital diarrhea 7 with exudative enteropathy
MONDO:0014376	intellectual disability, autosomal dominant 27
MONDO:0014377	developmental and epileptic encephalopathy, 24
MONDO:0014378	primary ciliary dyskinesia 29
MONDO:0014379	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MONDO:0014380	colobomatous microphthalmia-rhizomelic dysplasia syndrome
MONDO:0014381	cholestasis, progressive familial intrahepatic, 4
MONDO:0014382	tall stature-intellectual disability-facial dysmorphism syndrome
MONDO:0014383	myopathy, tubular aggregate, 2
MONDO:0014384	hypotrichosis 12
MONDO:0014385	amelogenesis imperfecta hypomaturation type 2A5
MONDO:0014386	platelet-type bleeding disorder 18
MONDO:0014387	leukoencephalopathy, progressive, with ovarian failure
MONDO:0014388	familial median cleft of the upper and lower lips
MONDO:0014389	polyglucosan body myopathy 1 with or without immunodeficiency
MONDO:0014390	hypotrichosis 13
MONDO:0014391	severe combined immunodeficiency due to CTPS1 deficiency
MONDO:0014392	developmental and epileptic encephalopathy, 25
MONDO:0014393	lymphedema, hereditary, 1D
MONDO:0014394	Diamond-Blackfan anemia 13
MONDO:0014395	frontotemporal dementia and/or amyotrophic lateral sclerosis 2
MONDO:0014396	dilated cardiomyopathy 1NN
MONDO:0014397	combined oxidative phosphorylation defect type 20
MONDO:0014398	combined oxidative phosphorylation defect type 21
MONDO:0014399	ataxia-telangiectasia-like disorder 2
MONDO:0014400	retinitis pigmentosa 70
MONDO:0014401	tall stature-scoliosis-macrodactyly of the great toes syndrome
MONDO:0014402	severe neurodegenerative syndrome with lipodystrophy
MONDO:0014403	short stature due to GHSR deficiency
MONDO:0014404	Webb-Dattani syndrome
MONDO:0014405	STING-associated vasculopathy with onset in infancy
MONDO:0014406	pancreatic agenesis 2
MONDO:0014407	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
MONDO:0014408	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
MONDO:0014409	intellectual disability, autosomal recessive 44
MONDO:0014410	spinocerebellar ataxia type 37
MONDO:0014411	myopia 24, autosomal dominant
MONDO:0014412	hyperlipoproteinemia, type 1D
MONDO:0014413	orofaciodigital syndrome type 14
MONDO:0014414	STAT3-related early-onset multisystem autoimmune disease
MONDO:0014416	ACTH-independent macronodular adrenal hyperplasia 2
MONDO:0014417	spinocerebellar ataxia type 38
MONDO:0014418	myopathy, centronuclear, 5
MONDO:0014419	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
MONDO:0014420	short stature due to primary acid-labile subunit deficiency
MONDO:0014421	glucocorticoid resistance
MONDO:0014422	vesicoureteral reflux 8
MONDO:0014423	severe combined immunodeficiency due to DNA-PKcs deficiency
MONDO:0014424	congenital deficiency in alpha-fetoprotein
MONDO:0014425	hereditary persistence of alpha-fetoprotein
MONDO:0014426	nanophthalmos 4
MONDO:0014427	cone-rod dystrophy 20
MONDO:0014428	autosomal recessive nonsyndromic deafness 102
MONDO:0014429	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
MONDO:0014430	intellectual disability, autosomal recessive 45
MONDO:0014431	LIPE-related familial partial lipodystrophy
MONDO:0014432	Bardet-Biedl syndrome 2
MONDO:0014433	Bardet-Biedl syndrome 4
MONDO:0014434	Bardet-Biedl syndrome 5
MONDO:0014435	Bardet-Biedl syndrome 7
MONDO:0014436	Bardet-Biedl syndrome 8
MONDO:0014437	Bardet-Biedl syndrome 9
MONDO:0014438	Bardet-Biedl syndrome 10
MONDO:0014439	Bardet-Biedl syndrome 11
MONDO:0014440	Bardet-Biedl syndrome 12
MONDO:0014441	Bardet-Biedl syndrome 13
MONDO:0014442	Bardet-Biedl syndrome 14
MONDO:0014444	Bardet-Biedl syndrome 16
MONDO:0014445	Bardet-Biedl syndrome 17
MONDO:0014446	Bardet-Biedl syndrome 18
MONDO:0014447	Bardet-Biedl syndrome 19
MONDO:0014448	hyperthyroxinemia, familial dysalbuminemic
MONDO:0014449	congenital analbuminemia
MONDO:0014450	breasts and/or nipples, aplasia or hypoplasia of, 2
MONDO:0014451	focal segmental glomerulosclerosis 7
MONDO:0014452	familial dysfibrinogenemia
MONDO:0014453	immunodeficiency 36
MONDO:0014454	Hennekam lymphangiectasia-lymphedema syndrome 2
MONDO:0014455	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MONDO:0014456	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
MONDO:0014457	hyperphosphatasia with intellectual disability syndrome 5
MONDO:0014458	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
MONDO:0014459	Adams-Oliver syndrome 5
MONDO:0014460	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
MONDO:0014461	hypogonadotropic hypogonadism 22 with or without anosmia
MONDO:0014462	focal segmental glomerulosclerosis 8
MONDO:0014464	progressive encephalopathy with leukodystrophy due to DECR deficiency
MONDO:0014465	primary ciliary dyskinesia 30
MONDO:0014466	Neu-Laxova syndrome 2
MONDO:0014467	Charcot-Marie-Tooth disease recessive intermediate D
MONDO:0014468	congenital myasthenic syndrome 7
MONDO:0014469	autosomal recessive nonsyndromic deafness 103
MONDO:0014470	autosomal dominant nonsyndromic deafness 65
MONDO:0014472	periodic fever-infantile enterocolitis-autoinflammatory syndrome
MONDO:0014473	microcephaly 13, primary, autosomal recessive
MONDO:0014474	autosomal recessive limb-girdle muscular dystrophy type 2U
MONDO:0014475	spinocerebellar ataxia type 40
MONDO:0014476	episodic ataxia type 8
MONDO:0014477	developmental and epileptic encephalopathy, 26
MONDO:0014478	mirror movements 3
MONDO:0014479	porokeratosis 8, disseminated superficial actinic type
MONDO:0014480	46,XY sex reversal 9
MONDO:0014481	inflammatory skin and bowel disease, neonatal, 2
MONDO:0014482	intellectual disability, autosomal dominant 29
MONDO:0014483	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
MONDO:0014484	microcephaly 12, primary, autosomal recessive
MONDO:0014485	pontocerebellar hypoplasia, type 1C
MONDO:0014486	intellectual disability, autosomal dominant 30
MONDO:0014487	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
MONDO:0014489	limb-girdle muscular dystrophy due to POMK deficiency
MONDO:0014490	ketoacidosis due to monocarboxylate transporter-1 deficiency
MONDO:0014491	immunodeficiency 37
MONDO:0014492	woolly hair-palmoplantar keratoderma syndrome
MONDO:0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
MONDO:0014494	psoriasis 15, pustular, susceptibility to
MONDO:0014495	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
MONDO:0014496	mitochondrial complex III deficiency nuclear type 9
MONDO:0014497	polyendocrine-polyneuropathy syndrome
MONDO:0014498	familial cold autoinflammatory syndrome 4
MONDO:0014499	intellectual disability, autosomal recessive 46
MONDO:0014500	atrial conduction disease
MONDO:0014501	macular degeneration, early-onset
MONDO:0014502	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MONDO:0014503	autosomal recessive spinocerebellar ataxia 17
MONDO:0014504	Perrault syndrome 5
MONDO:0014505	developmental and epileptic encephalopathy, 27
MONDO:0014506	hypomyelinating leukodystrophy 9
MONDO:0014507	Catel-Manzke syndrome
MONDO:0014508	vitelliform macular dystrophy 4
MONDO:0014509	vitelliform macular dystrophy 5
MONDO:0014510	fatty acyl-CoA reductase 1 deficiency
MONDO:0014511	Charcot-Marie-Tooth disease axonal type 2S
MONDO:0014512	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
MONDO:0014513	nemaline myopathy 10
MONDO:0014514	aortic aneurysm, familial thoracic 9
MONDO:0014515	macular dystrophy with central cone involvement
MONDO:0014516	microcephaly and chorioretinopathy 2
MONDO:0014517	generalized epilepsy with febrile seizures plus, type 9
MONDO:0014518	platelet-type bleeding disorder 19
MONDO:0014520	46,XX ovarian dysgenesis-short stature syndrome
MONDO:0014521	progressive myoclonic epilepsy type 7
MONDO:0014522	retinal dystrophy and obesity
MONDO:0014523	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
MONDO:0014524	intellectual disability, autosomal recessive 47
MONDO:0014525	combined oxidative phosphorylation defect type 23
MONDO:0014526	polyglucosan body myopathy type 2
MONDO:0014527	progeroid features-hepatocellular carcinoma predisposition syndrome
MONDO:0014528	chronic atrial and intestinal dysrhythmia
MONDO:0014529	cerebellar-facial-dental syndrome
MONDO:0014530	autosomal recessive spinocerebellar ataxia 18
MONDO:0014531	amyotrophic lateral sclerosis type 22
MONDO:0014532	autosomal dominant mitochondrial myopathy with exercise intolerance
MONDO:0014533	developmental and epileptic encephalopathy, 28
MONDO:0014534	lissencephaly 6 with microcephaly
MONDO:0014535	hyperproinsulinemia
MONDO:0014536	thrombocytopenia 5
MONDO:0014537	nephronophthisis 19
MONDO:0014538	fibrosis of extraocular muscles, congenital, 5
MONDO:0014539	focal segmental glomerulosclerosis 9
MONDO:0014540	amelogenesis imperfecta type 1H
MONDO:0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect
MONDO:0014542	congenital myasthenic syndrome 15
MONDO:0014543	congenital myasthenic syndrome 14
MONDO:0014544	osteogenesis imperfecta type 16
MONDO:0014545	progressive myoclonic epilepsy type 8
MONDO:0014546	myopathy due to calsequestrin and SERCA1 protein overload
MONDO:0014547	combined oxidative phosphorylation defect type 24
MONDO:0014548	long QT syndrome 14
MONDO:0014549	lethal congenital contracture syndrome 6
MONDO:0014550	long QT syndrome 15
MONDO:0014551	short stature with nonspecific skeletal abnormalities
MONDO:0014552	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
MONDO:0014553	Tenorio syndrome
MONDO:0014554	infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0014555	peeling skin syndrome type A
MONDO:0014556	congenital contractures of the limbs and face, hypotonia, and developmental delay
MONDO:0014557	ataxia - oculomotor apraxia type 4
MONDO:0014558	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MONDO:0014559	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
MONDO:0014560	amelogenesis imperfecta type 1F
MONDO:0014561	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
MONDO:0014562	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
MONDO:0014563	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
MONDO:0014564	congenital bile acid synthesis defect 5
MONDO:0014565	cataract 43
MONDO:0014566	Charcot-Marie-Tooth disease axonal type 2U
MONDO:0014567	glutamate pyruvate transaminase 2 deficiency
MONDO:0014568	hereditary spastic paraplegia 73
MONDO:0014569	lethal congenital contracture syndrome 7
MONDO:0014570	lethal congenital contracture syndrome 8
MONDO:0014571	optic atrophy 9
MONDO:0014572	Lichtenstein-Knorr syndrome
MONDO:0014573	Cole-Carpenter syndrome 2
MONDO:0014574	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
MONDO:0014575	Singleton-Merten syndrome 2
MONDO:0014576	lipoyl transferase 1 deficiency
MONDO:0014577	short-rib thoracic dysplasia 13 with or without polydactyly
MONDO:0014578	congenital myasthenic syndrome 17
MONDO:0014579	Senior-Loken syndrome 8
MONDO:0014580	intellectual disability, autosomal dominant 33
MONDO:0014581	congenital myasthenic syndrome 2A
MONDO:0014582	congenital myasthenic syndrome 2C
MONDO:0014583	congenital myasthenic syndrome 3A
MONDO:0014584	congenital myasthenic syndrome 3B
MONDO:0014585	congenital myasthenic syndrome 3C
MONDO:0014586	congenital myasthenic syndrome 4B
MONDO:0014587	congenital myasthenic syndrome 9
MONDO:0014588	congenital myasthenic syndrome 11
MONDO:0014589	maturity-onset diabetes of the young type 13
MONDO:0014590	congenital myasthenic syndrome 18
MONDO:0014591	autosomal dominant Robinow syndrome 2
MONDO:0014592	microcephaly and chorioretinopathy 3
MONDO:0014593	developmental and epileptic encephalopathy, 29
MONDO:0014594	autosomal dominant nonsyndromic deafness 67
MONDO:0014595	developmental and epileptic encephalopathy, 30
MONDO:0014596	lissencephaly 7 with cerebellar hypoplasia
MONDO:0014597	immunodeficiency 39
MONDO:0014598	developmental and epileptic encephalopathy, 31
MONDO:0014599	intellectual disability, autosomal dominant 34
MONDO:0014600	dyskeratosis congenita, autosomal recessive 6
MONDO:0014601	autosomal recessive spinocerebellar ataxia 20
MONDO:0014602	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
MONDO:0014603	autosomal dominant nonsyndromic deafness 40
MONDO:0014604	Parkinson disease 21
MONDO:0014605	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
MONDO:0014606	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
MONDO:0014607	developmental and epileptic encephalopathy, 32
MONDO:0014608	mandibulofacial dysostosis with alopecia
MONDO:0014609	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
MONDO:0014611	multiple mitochondrial dysfunctions syndrome 4
MONDO:0014612	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
MONDO:0014613	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
MONDO:0014614	congenital stationary night blindness 1G
MONDO:0014615	trichothiodystrophy 2, photosensitive
MONDO:0014617	intellectual disability, autosomal dominant 38
MONDO:0014618	retinitis pigmentosa 71
MONDO:0014619	trichothiodystrophy 3, photosensitive
MONDO:0014620	myoclonic dystonia 26
MONDO:0014621	Brugada syndrome 9
MONDO:0014622	isolated focal non-epidermolytic palmoplantar keratoderma
MONDO:0014623	microcephaly 14, primary, autosomal recessive
MONDO:0014624	Brown syndrome
MONDO:0014625	developmental and epileptic encephalopathy, 33
MONDO:0014626	spinocerebellar ataxia type 41
MONDO:0014627	dystonia 27
MONDO:0014628	basal ganglia calcification, idiopathic, 6
MONDO:0014629	autoimmune interstitial lung disease-arthritis syndrome
MONDO:0014630	NTHL1-related attenuated familial adenomatous polyposis
MONDO:0014632	hypomyelinating leukodystrophy 10
MONDO:0014633	myoclonic-atonic epilepsy
MONDO:0014634	46,XY sex reversal 10
MONDO:0014635	microphthalmia, isolated, with coloboma 10
MONDO:0014636	combined oxidative phosphorylation defect type 25
MONDO:0014637	DOCK2 deficiency
MONDO:0014638	Fanconi anemia complementation group T
MONDO:0014639	familial temporal lobe epilepsy 7
MONDO:0014640	frontotemporal dementia and/or amyotrophic lateral sclerosis 3
MONDO:0014641	frontotemporal dementia and/or amyotrophic lateral sclerosis 4
MONDO:0014642	candidiasis, familial, 9
MONDO:0014643	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MONDO:0014644	hereditary spastic paraplegia 74
MONDO:0014645	BENTA disease
MONDO:0014646	Zimmermann-Laband syndrome 2
MONDO:0014647	developmental and epileptic encephalopathy, 50
MONDO:0014648	Al-Raqad syndrome
MONDO:0014649	intellectual disability, autosomal recessive 50
MONDO:0014650	familial temporal lobe epilepsy 8
MONDO:0014651	acrofacial dysostosis Cincinnati type
MONDO:0014652	exudative vitreoretinopathy 6
MONDO:0014653	retinitis pigmentosa 72
MONDO:0014654	Ullrich congenital muscular dystrophy 2
MONDO:0014656	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
MONDO:0014657	primary ciliary dyskinesia 32
MONDO:0014658	severe achondroplasia-developmental delay-acanthosis nigricans syndrome
MONDO:0014659	infantile liver failure syndrome 2
MONDO:0014660	microcephaly 15, primary, autosomal recessive
MONDO:0014661	epidermolysis bullosa simplex with nail dystrophy
MONDO:0014662	congenital insensitivity to pain-hypohidrosis syndrome
MONDO:0014663	Silver-Russell syndrome 3
MONDO:0014664	Joubert syndrome 23
MONDO:0014665	Charcot-Marie-Tooth disease axonal type 2V
MONDO:0014666	hypomyelinating leukodystrophy 11
MONDO:0014667	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
MONDO:0014668	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
MONDO:0014669	cone-rod dystrophy 21
MONDO:0014670	lethal congenital contracture syndrome 9
MONDO:0014671	neuropathy, hereditary motor and sensory, type 6B
MONDO:0014672	osteogenesis imperfecta type 17
MONDO:0014673	cataract 44
MONDO:0014674	maturity-onset diabetes of the young type 14
MONDO:0014675	autosomal recessive nonsyndromic deafness 104
MONDO:0014676	Emery-Dreifuss muscular dystrophy 3, autosomal recessive
MONDO:0014677	achromatopsia 7
MONDO:0014678	intellectual disability, autosomal dominant 39
MONDO:0014679	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MONDO:0014680	herpes simplex encephalitis, susceptibility to, 7
MONDO:0014681	thyroid cancer, nonmedullary, 4
MONDO:0014682	thyroid cancer, nonmedullary, 5
MONDO:0014683	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
MONDO:0014684	combined oxidative phosphorylation defect type 26
MONDO:0014685	progressive myoclonic epilepsy type 9
MONDO:0014686	short stature, microcephaly, and endocrine dysfunction
MONDO:0014687	retinitis pigmentosa 73
MONDO:0014688	short-rib thoracic dysplasia 14 with polydactyly
MONDO:0014689	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
MONDO:0014690	dyskeratosis congenita, autosomal dominant 6
MONDO:0014691	Noonan syndrome 9
MONDO:0014692	retinitis pigmentosa 74
MONDO:0014693	Noonan syndrome 10
MONDO:0014694	spondylocostal dysostosis 6, autosomal recessive
MONDO:0014696	cerebrooculofacioskeletal syndrome 3
MONDO:0014697	immunodeficiency, common variable, 12
MONDO:0014698	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
MONDO:0014699	intellectual disability, autosomal dominant 40
MONDO:0014700	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
MONDO:0014701	spondyloepiphyseal dysplasia, Stanescu type
MONDO:0014702	autosomal recessive complex spastic paraplegia type 9B
MONDO:0014703	Adams-Oliver syndrome 6
MONDO:0014704	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
MONDO:0014705	craniosynostosis 6
MONDO:0014706	cutis laxa, autosomal dominant 3
MONDO:0014707	14q32 duplication syndrome
MONDO:0014708	ring chromosome 14
MONDO:0014710	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
MONDO:0014711	autosomal dominant Charcot-Marie-Tooth disease type 2W
MONDO:0014712	Senior-Loken syndrome 9
MONDO:0014713	porokeratosis 9, multiple types
MONDO:0014714	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
MONDO:0014715	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
MONDO:0014716	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MONDO:0014717	early-onset Lafora body disease
MONDO:0014718	developmental and epileptic encephalopathy, 34
MONDO:0014719	developmental and epileptic encephalopathy, 35
MONDO:0014720	autosomal dominant optic atrophy plus syndrome
MONDO:0014722	Roifman syndrome
MONDO:0014723	PMP22-RAI1 contiguous gene duplication syndrome
MONDO:0014724	Joubert syndrome 24
MONDO:0014725	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
MONDO:0014726	Charcot-Marie-Tooth disease axonal type 2X
MONDO:0014727	immunodeficiency 45
MONDO:0014728	combined oxidative phosphorylation defect type 27
MONDO:0014729	hereditary spastic paraplegia 75
MONDO:0014730	microcephaly 16, primary, autosomal recessive
MONDO:0014731	seizures-scoliosis-macrocephaly syndrome
MONDO:0014732	hypomyelinating leukodystrophy 12
MONDO:0014733	Charcot-Marie-Tooth disease type 4K
MONDO:0014734	epilepsy, idiopathic generalized, susceptibility to, 14
MONDO:0014735	Charcot-Marie-Tooth disease type 2Y
MONDO:0014736	Charcot-Marie-Tooth disease axonal type 2Z
MONDO:0014737	dehydrated hereditary stomatocytosis 2
MONDO:0014738	autosomal dominant nonsyndromic deafness 69
MONDO:0014739	autosomal recessive nonsyndromic deafness 97
MONDO:0014740	autosomal dominant nonsyndromic deafness 68
MONDO:0014741	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
MONDO:0014742	Parkinson disease 22, autosomal dominant
MONDO:0014743	rhizomelic chondrodysplasia punctata type 5
MONDO:0014744	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
MONDO:0014745	congenital myasthenic syndrome 19
MONDO:0014746	SLC39A8-CDG
MONDO:0014747	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
MONDO:0014748	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
MONDO:0014749	tooth agenesis, selective, 7
MONDO:0014750	primary ciliary dyskinesia 33
MONDO:0014751	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
MONDO:0014752	nephrotic syndrome, type 11
MONDO:0014754	primary coenzyme Q10 deficiency 8
MONDO:0014755	skin creases, congenital symmetric circumferential, 2
MONDO:0014756	tremor, hereditary essential, 5
MONDO:0014757	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
MONDO:0014758	radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MONDO:0014759	intellectual disability, autosomal recessive 51
MONDO:0014760	TFRC-related combined immunodeficiency
MONDO:0014761	hereditary pediatric Behçet-like disease
MONDO:0014762	heterotaxy, visceral, 7, autosomal
MONDO:0014764	spastic paraplegia-severe developmental delay-epilepsy syndrome
MONDO:0014765	woolly hair, autosomal recessive 3
MONDO:0014766	leukodystrophy and acquired microcephaly with or without dystonia;
MONDO:0014767	Seckel syndrome 9
MONDO:0014768	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
MONDO:0014770	Joubert syndrome 25
MONDO:0014771	Joubert syndrome 26
MONDO:0014772	orofacial cleft 15
MONDO:0014773	cardiac anomalies - developmental delay - facial dysmorphism syndrome
MONDO:0014775	combined oxidative phosphorylation deficiency 28
MONDO:0014776	spinocerebellar ataxia type 42
MONDO:0014777	hypotonia, infantile, with psychomotor retardation and characteristic facies 2
MONDO:0014778	Lamb-Shaffer syndrome
MONDO:0014779	Wilms tumor 6
MONDO:0014780	hyperphosphatasia with intellectual disability syndrome 6
MONDO:0014781	combined oxidative phosphorylation deficiency 29
MONDO:0014782	autosomal recessive limb-girdle muscular dystrophy type 2X
MONDO:0014783	preimplantation embryonic lethality 1
MONDO:0014784	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
MONDO:0014785	microcephaly, short stature, and impaired glucose metabolism 2
MONDO:0014786	IgA nephropathy, susceptibility to, 3
MONDO:0014787	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
MONDO:0014788	autosomal recessive limb-girdle muscular dystrophy type 2W
MONDO:0014789	CCDC115-CDG
MONDO:0014790	TMEM199-CDG
MONDO:0014791	Luscan-Lumish syndrome
MONDO:0014792	Paget disease of bone 6
MONDO:0014793	microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MONDO:0014794	Meier-Gorlin syndrome 6
MONDO:0014795	exercise intolerance, riboflavin-responsive
MONDO:0014796	autosomal recessive early-onset Parkinson disease 23
MONDO:0014797	lymphedema, hereditary, type III
MONDO:0014798	brachydactyly type A1D
MONDO:0014799	cataract 45
MONDO:0014800	progressive scapulohumeroperoneal distal myopathy
MONDO:0014801	even-plus syndrome
MONDO:0014802	Cowden syndrome 7
MONDO:0014803	spasticity-ataxia-gait anomalies syndrome
MONDO:0014804	sideroblastic anemia 3
MONDO:0014805	Hao-Fountain syndrome
MONDO:0014806	spinal muscular atrophy with congenital bone fractures 1
MONDO:0014807	spinal muscular atrophy with congenital bone fractures 2
MONDO:0014808	congenital secretory sodium diarrhea 8
MONDO:0014809	DDX41-related hematologic malignancy predisposition syndrome
MONDO:0014810	pancytopenia due to IKZF1 mutations
MONDO:0014811	cerebellar atrophy, visual impairment, and psychomotor retardation;
MONDO:0014813	hypomyelinating leukodystrophy 13
MONDO:0014814	advanced sleep phase syndrome 3
MONDO:0014815	intellectual disability, autosomal recessive 52
MONDO:0014816	split-foot malformation-mesoaxial polydactyly syndrome
MONDO:0014817	nephrotic syndrome, type 12
MONDO:0014818	nephrotic syndrome, type 13
MONDO:0014819	autosomal dominant Robinow syndrome 3
MONDO:0014820	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
MONDO:0014821	complex lethal osteochondrodysplasia
MONDO:0014822	15q14 microdeletion syndrome
MONDO:0014823	hypotonia, infantile, with psychomotor retardation and characteristic facies 3
MONDO:0014824	craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
MONDO:0014825	chromosome 11p13 deletion syndrome, distal
MONDO:0014827	autosomal recessive spastic paraplegia type 76
MONDO:0014828	immunodeficiency-centromeric instability-facial anomalies syndrome 3
MONDO:0014829	immunodeficiency-centromeric instability-facial anomalies syndrome 4
MONDO:0014830	platelet-type bleeding disorder 20
MONDO:0014831	progeroid and marfanoid aspect-lipodystrophy syndrome
MONDO:0014832	intellectual disability, autosomal recessive 53
MONDO:0014833	heart and brain malformation syndrome
MONDO:0014834	dyskinesia, limb and orofacial, infantile-onset
MONDO:0014835	striatal degeneration, autosomal dominant 2
MONDO:0014836	Charcot-Marie-Tooth disease axonal type 2CC
MONDO:0014837	thrombocytopenia 6
MONDO:0014838	Coffin-Siris syndrome 5
MONDO:0014839	chorea, childhood-onset, with psychomotor retardation
MONDO:0014840	agammaglobulinemia 8, autosomal dominant
MONDO:0014841	trichothiodystrophy 6, nonphotosensitive
MONDO:0014842	intellectual disability, autosomal dominant 41
MONDO:0014843	premature ovarian failure 11
MONDO:0014844	premature ovarian failure 12
MONDO:0014845	spinocerebellar ataxia, autosomal recessive 22
MONDO:0014846	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
MONDO:0014847	spermatogenic failure 15
MONDO:0014848	TELO2-related intellectual disability-neurodevelopmental disorder
MONDO:0014850	retinitis pigmentosa and erythrocytic microcytosis
MONDO:0014851	hypercalcemia, infantile 2
MONDO:0014853	autosomal dominant nonsyndromic deafness 70
MONDO:0014854	autosomal dominant nonsyndromic deafness 66
MONDO:0014855	intellectual disability, autosomal dominant 42
MONDO:0014856	combined oxidative phosphorylation defect type 30
MONDO:0014857	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
MONDO:0014858	intellectual disability, autosomal dominant 43
MONDO:0014859	developmental and epileptic encephalopathy, 37
MONDO:0014860	polycystic liver disease 2
MONDO:0014861	autoimmune disease, multisystem, infantile-onset, 2
MONDO:0014862	cerebral palsy, spastic quadriplegic, 3
MONDO:0014863	macrocephaly, dysmorphic facies, and psychomotor retardation
MONDO:0014864	hypermanganesemia with dystonia 2
MONDO:0014865	autosomal recessive severe congenital neutropenia due to CSF3R deficiency
MONDO:0014866	Charcot-Marie-Tooth disease axonal type 2T
MONDO:0014867	spinocerebellar ataxia 43
MONDO:0014868	developmental and epileptic encephalopathy, 38
MONDO:0014869	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
MONDO:0014870	NEK9-related lethal skeletal dysplasia
MONDO:0014871	retinitis pigmentosa 75
MONDO:0014872	congenital stationary night blindness 1H
MONDO:0014873	nevus comedonicus syndrome
MONDO:0014874	pontocerebellar hypoplasia, type 2F
MONDO:0014875	hyperaldosteronism, familial, type IV
MONDO:0014876	intellectual disability, autosomal recessive 54
MONDO:0014877	myopathy, distal, 5
MONDO:0014878	patent ductus arteriosus 2
MONDO:0014880	Duane retraction syndrome 3 with or without deafness
MONDO:0014881	transketolase deficiency
MONDO:0014882	hereditary spastic paraplegia 77
MONDO:0014883	hypertrophic cardiomyopathy 26
MONDO:0014884	cholestasis, progressive familial intrahepatic, 5
MONDO:0014885	Hermansky-Pudlak syndrome 10
MONDO:0014886	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
MONDO:0014887	bone marrow failure syndrome 3
MONDO:0014888	MIRAGE syndrome
MONDO:0014889	striatonigral degeneration, childhood-onset
MONDO:0014890	PERCHING syndrome
MONDO:0014891	hyperuricemic nephropathy, familial juvenile type 4
MONDO:0014892	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
MONDO:0014893	Okur-Chung neurodevelopmental syndrome
MONDO:0014894	Meier-Gorlin syndrome 7
MONDO:0014895	developmental and epileptic encephalopathy, 40
MONDO:0014896	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
MONDO:0014897	portal hypertension, noncirrhotic
MONDO:0014898	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
MONDO:0014899	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
MONDO:0014900	autosomal recessive limb-girdle muscular dystrophy type 2Y
MONDO:0014901	tooth agenesis, selective, 8
MONDO:0014903	seizures, benign familial infantile, 5
MONDO:0014904	congenital disorder of glycosylation, type IAA
MONDO:0014905	encephalopathy due to defective mitochondrial and peroxisomal fission 2
MONDO:0014906	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
MONDO:0014907	short-rib thoracic dysplasia 15 with polydactyly
MONDO:0014908	microcephaly 17, primary, autosomal recessive
MONDO:0014909	primary ciliary dyskinesia 34
MONDO:0014910	primary ciliary dyskinesia 35
MONDO:0014911	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
MONDO:0014912	infantile-onset periodic fever-panniculitis-dermatosis syndrome
MONDO:0014914	Dias-Logan syndrome
MONDO:0014915	short-rib thoracic dysplasia 16 with or without polydactyly
MONDO:0014916	developmental and epileptic encephalopathy, 41
MONDO:0014917	developmental and epileptic encephalopathy, 42
MONDO:0014918	tall stature-intellectual disability-renal anomalies syndrome
MONDO:0014919	sessile serrated polyposis cancer syndrome
MONDO:0014920	patterned macular dystrophy 3
MONDO:0014921	developmental and epileptic encephalopathy, 43
MONDO:0014922	myofibrillar myopathy 7
MONDO:0014923	peeling skin syndrome 5
MONDO:0014924	epilepsy, familial focal, with variable foci 2
MONDO:0014925	epilepsy, familial focal, with variable foci 3
MONDO:0014926	Bardet-Biedl syndrome 20
MONDO:0014927	Joubert syndrome 27
MONDO:0014928	Joubert syndrome 28
MONDO:0014929	retinitis pigmentosa 76
MONDO:0014930	intellectual disability, autosomal recessive 56
MONDO:0014931	Alazami-Yuan syndrome
MONDO:0014932	orofaciodigital syndrome XV
MONDO:0014933	developmental and epileptic encephalopathy, 44
MONDO:0014934	spinocerebellar ataxia, autosomal recessive 24
MONDO:0014935	frontometaphyseal dysplasia 2
MONDO:0014936	ZTTK syndrome
MONDO:0014937	aniridia 2
MONDO:0014938	aniridia 3
MONDO:0014939	congenital myasthenic syndrome 20
MONDO:0014940	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
MONDO:0014941	arthrogryposis, distal, with impaired proprioception and touch
MONDO:0014942	developmental and epileptic encephalopathy, 45
MONDO:0014943	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);
MONDO:0014944	short stature-brachydactyly-obesity-global developmental delay syndrome
MONDO:0014945	myopathy, distal, with rimmed vacuoles
MONDO:0014946	Sifrim-Hitz-Weiss syndrome
MONDO:0014947	developmental and epileptic encephalopathy, 46
MONDO:0014948	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
MONDO:0014949	developmental and epileptic encephalopathy, 47
MONDO:0014950	aortic aneurysm, familial thoracic 10
MONDO:0014951	Sotos syndrome 3
MONDO:0014952	intellectual disability-epilepsy-extrapyramidal syndrome
MONDO:0014953	gnb5-related intellectual disability-cardiac arrhythmia syndrome
MONDO:0014954	Ehlers-Danlos syndrome, periodontal type 2
MONDO:0014955	retinal dystrophy with or without extraocular anomalies
MONDO:0014956	Chitayat syndrome
MONDO:0014957	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
MONDO:0014958	Harel-Yoon syndrome
MONDO:0014959	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
MONDO:0014961	spermatogenic failure 16
MONDO:0014962	intellectual disability, autosomal recessive 57
MONDO:0014963	Shashi-Pena syndrome
MONDO:0014965	lethal congenital contracture syndrome 11
MONDO:0014966	periventricular nodular heterotopia 7
MONDO:0014967	heterotaxy, visceral, 8, autosomal
MONDO:0014968	encephalopathy, progressive, with amyotrophy and optic atrophy
MONDO:0014969	isolated sedoheptulokinase deficiency
MONDO:0014970	spermatogenic failure 17
MONDO:0014971	amelogenesis imperfecta, hypomaturation type, IIa6
MONDO:0014972	chromosome 19q13.11 deletion syndrome, proximal
MONDO:0014973	sudden cardiac failure, infantile
MONDO:0014974	sudden cardiac failure, alcohol-induced
MONDO:0014975	autosomal recessive spastic paraplegia type 78
MONDO:0014976	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
MONDO:0014977	autosomal recessive limb-girdle muscular dystrophy type 2Z
MONDO:0014978	preimplantation embryonic lethality 2
MONDO:0014979	myoclonus, intractable, neonatal
MONDO:0014981	immunodeficiency 49
MONDO:0014982	myopia 25, autosomal dominant
MONDO:0014983	congenital myasthenic syndrome 21
MONDO:0014984	lung disease, immunodeficiency, and chromosome breakage syndrome;
MONDO:0014985	Fanconi anemia complementation group V
MONDO:0014986	Fanconi anemia complementation group R
MONDO:0014987	Fanconi anemia complementation group U
MONDO:0014989	uncombable hair syndrome 2
MONDO:0014990	uncombable hair syndrome 3
MONDO:0014991	Seckel syndrome 10
MONDO:0014992	lissencephaly 8
MONDO:0014993	myofibrillar myopathy 8
MONDO:0014994	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
MONDO:0014995	neurodevelopmental disorder with hypotonia, seizures, and absent language
MONDO:0014996	intellectual disability, autosomal recessive 58
MONDO:0014997	nephronophthisis 20
MONDO:0014998	glaucoma 3, primary congenital, E
MONDO:0014999	tooth agenesis, selective, 9
MONDO:0015000	developmental and epileptic encephalopathy, 48
MONDO:0015001	atrial fibrillation, familial, 18
MONDO:0015002	developmental and epileptic encephalopathy, 49
MONDO:0015003	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
MONDO:0015004	dystonia 28, childhood-onset
MONDO:0015005	epilepsy, early-onset, vitamin B6-dependent
MONDO:0015006	generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
MONDO:0015007	spastic paraplegia, intellectual disability, nystagmus, and obesity;
MONDO:0015008	amelogenesis imperfecta, type 1J
MONDO:0015009	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
MONDO:0015010	atypical glycine encephalopathy
MONDO:0015011	optic atrophy 11
MONDO:0015012	mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
MONDO:0015013	retinitis pigmentosa 77
MONDO:0015014	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MONDO:0015015	congenital bile acid synthesis defect 6
MONDO:0015016	anterior segment dysgenesis 6
MONDO:0015017	anterior segment dysgenesis 8
MONDO:0015018	ichthyosis, congenital, autosomal recessive 12
MONDO:0015019	susceptibility to Yao syndrome
MONDO:0015020	intellectual disability, autosomal recessive 59
MONDO:0015021	hypotonia, ataxia, and delayed development syndrome
MONDO:0015022	intellectual developmental disorder with dysmorphic facies and ptosis
MONDO:0015023	MYPN-related myopathy
MONDO:0015024	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
MONDO:0015025	developmental and epileptic encephalopathy, 51
MONDO:0015026	cerebroretinal microangiopathy with calcifications and cysts 2
MONDO:0015027	familial isolated hyperparathyroidism
MONDO:0015028	48,XXYY syndrome
MONDO:0015033	ABeta amyloidosis, dutch type
MONDO:0015044	mu-heavy chain disease
MONDO:0015045	alpha-heavy chain disease
MONDO:0015046	gamma-heavy chain disease
MONDO:0015053	hereditary angioedema type 1
MONDO:0015059	progressive non-fluent aphasia
MONDO:0015061	neurogenic thoracic outlet syndrome
MONDO:0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
MONDO:0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
MONDO:0015065	ileal neuroendocrine tumor, well differentiated, low or intermediate grade
MONDO:0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
MONDO:0015069	neuroendocrine tumor of the anal canal
MONDO:0015070	laryngeal neuroendocrine neoplasm
MONDO:0015071	middle ear neuroendocrine tumor
MONDO:0015072	liver neuroendocrine carcinoma
MONDO:0015073	gallbladder neuroendocrine tumor, grade 1/2
MONDO:0015082	alopecia antibody deficiency
MONDO:0015085	bathing suit ichthyosis
MONDO:0015093	sub-cortical nodular heterotopia
MONDO:0015094	subependymal nodular heterotopia
MONDO:0015096	familial hypofibrinogenemia
MONDO:0015099	unilateral hemispheric polymicrogyria
MONDO:0015100	aregenerative anemia
MONDO:0015104	porphyria cutanea tarda
MONDO:0015140	Early-onset autosomal dominant Alzheimer disease
MONDO:0015171	congenital enterocyte heparan sulfate deficiency
MONDO:0015175	autoimmune pancreatitis
MONDO:0015177	metaphyseal anadysplasia
MONDO:0015180	intestinal disease due to fat malabsorption
MONDO:0015193	Hydrops fetalis
MONDO:0015195	atresia of urethra
MONDO:0015196	vein of Galen aneurysm
MONDO:0015197	aneurysm of sinus of Valsalva
MONDO:0015198	aniridia-ptosis-intellectual disability-familial obesity syndrome
MONDO:0015199	aniridia - intellectual disability syndrome
MONDO:0015201	ankyloblepharon filiforme-imperforate anus syndrome
MONDO:0015205	isolated lissencephaly type 1 without known genetic defects
MONDO:0015228	pentasomy X
MONDO:0015229	Bardet-Biedl syndrome
MONDO:0015230	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
MONDO:0015231	Bartter syndrome
MONDO:0015233	caudal appendage-deafness syndrome
MONDO:0015234	arachnodactyly-abnormal ossification-intellectual disability syndrome
MONDO:0015237	arrhinia
MONDO:0015238	arrhinia-choanal atresia-microphthalmia syndrome
MONDO:0015240	digitotalar dysmorphism
MONDO:0015241	arthrogryposis-like syndrome
MONDO:0015243	allergic bronchopulmonary aspergillosis
MONDO:0015247	opsoclonus-myoclonus syndrome
MONDO:0015248	ataxia-photosensitivity-short stature syndrome
MONDO:0015252	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
MONDO:0015253	Diamond-Blackfan anemia
MONDO:0015259	brachydactyly-mesomelia-intellectual disability-heart defects syndrome
MONDO:0015261	pseudopelade of Brocq
MONDO:0015263	Brugada syndrome
MONDO:0015264	cryptogenic organizing pneumonia
MONDO:0015267	Feingold syndrome
MONDO:0015268	medullary sponge kidney
MONDO:0015269	symmetrical thalamic calcifications
MONDO:0015270	butyrylcholinesterase deficiency
MONDO:0015272	camptodactyly-taurinuria syndrome
MONDO:0015273	complete atrioventricular canal
MONDO:0015274	chronic beryllium disease
MONDO:0015275	partial atrioventricular canal
MONDO:0015277	medullary thyroid gland carcinoma
MONDO:0015278	familial pancreatic carcinoma
MONDO:0015279	chronic mucocutaneous candidiasis
MONDO:0015280	cardiofaciocutaneous syndrome
MONDO:0015281	atrial standstill
MONDO:0015282	cardiomyopathy-cataract-hip spine disease syndrome
MONDO:0015283	maternally-inherited cardiomyopathy and hearing loss
MONDO:0015284	heart-hand syndrome type 2
MONDO:0015285	Carney complex
MONDO:0015290	neurotrophic keratopathy
MONDO:0015291	stromal keratitis
MONDO:0015293	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
MONDO:0015299	Asherman syndrome
MONDO:0015300	cataract - microcornea syndrome
MONDO:0015304	arachnoiditis
MONDO:0015307	Madras motor neuron disease
MONDO:0015317	laryngotracheal angioma
MONDO:0015324	cataract-intellectual disability-anal atresia-urinary defects syndrome
MONDO:0015325	cataract-deafness-hypogonadism syndrome
MONDO:0015326	night blindness-skeletal anomalies-dysmorphism syndrome
MONDO:0015339	adrenomyeloneuropathy
MONDO:0015340	drug rash with eosinophilia and systemic symptoms
MONDO:0015341	congenital panfollicular nevus
MONDO:0015345	perioral myoclonia with absences
MONDO:0015347	multicentric reticulohistiocytosis
MONDO:0015348	leukoencephalopathy with bilateral anterior temporal lobe cysts
MONDO:0015350	17q11.2 microduplication syndrome
MONDO:0015353	neuronopathy, distal hereditary motor, type 5A
MONDO:0015357	secondary hypoparathyroidism due to impaired parathormon secretion
MONDO:0015367	Charlie M syndrome
MONDO:0015371	linear atrophoderma of Moulin
MONDO:0015374	primary central nervous system vasculitis
MONDO:0015388	polyrrhinia
MONDO:0015389	supernumerary nostril
MONDO:0015397	oculo-auriculo-vertebral spectrum
MONDO:0015403	non-involuting congenital hemangioma
MONDO:0015404	rapidly involuting congenital hemangioma
MONDO:0015420	cleft lip and alveolus
MONDO:0015425	lethal recessive chondrodysplasia
MONDO:0015426	Desbuquois dysplasia
MONDO:0015428	choroidal atrophy-alopecia syndrome
MONDO:0015430	ring chromosome 1
MONDO:0015431	ring chromosome 10
MONDO:0015432	ring chromosome 12
MONDO:0015437	ring chromosome 21
MONDO:0015438	ring chromosome 22
MONDO:0015439	ring chromosome 4
MONDO:0015440	ring chromosome 6
MONDO:0015441	ring chromosome 7
MONDO:0015443	chromosome 8-derived supernumerary ring/marker
MONDO:0015445	autosomal dominant coarctation of aorta
MONDO:0015449	criss-cross heart
MONDO:0015452	Coffin-Siris syndrome
MONDO:0015453	Cogan syndrome
MONDO:0015454	multiple carboxylase deficiency
MONDO:0015458	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
MONDO:0015461	Short Rib Polydactyly Syndrome
MONDO:0015462	thin ribs-tubular bones-dysmorphism syndrome
MONDO:0015463	craniodigital syndrome-intellectual disability syndrome
MONDO:0015464	craniofrontonasal dysplasia-Poland anomaly syndrome
MONDO:0015465	craniometaphyseal dysplasia
MONDO:0015466	cranio-osteoarthropathy
MONDO:0015467	craniosynostosis, Philadelphia type
MONDO:0015470	Familial isolated dilated cardiomyopathy
MONDO:0015473	cryptorchidism-arachnodactyly-intellectual disability syndrome
MONDO:0015474	cryptosporidiosis
MONDO:0015484	cysticercosis
MONDO:0015515	Carnitine palmitoyltransferase II deficiency
MONDO:0015516	symbrachydactyly of hands and feet
MONDO:0015517	common variable immunodeficiency
MONDO:0015524	hyperplastic polyposis syndrome
MONDO:0015529	paroxysmal Hemicrania
MONDO:0015532	generalized eruptive histiocytosis
MONDO:0015533	benign cephalic histiocytosis
MONDO:0015534	juvenile xanthogranuloma
MONDO:0015535	xanthoma disseminatum
MONDO:0015536	papular xanthoma
MONDO:0015539	progressive nodular histiocytosis
MONDO:0015541	genetic hemophagocytic lymphohistiocytosis
MONDO:0015546	non-distal monosomy 10q
MONDO:0015552	acral dystrophic epidermolysis bullosa
MONDO:0015553	dystrophic epidermolysis bullosa, nails only
MONDO:0015562	distal monosomy 17q
MONDO:0015564	Castleman disease
MONDO:0015565	cap polyposis
MONDO:0015566	2q24 microdeletion syndrome
MONDO:0015579	Hb Bart's hydrops fetalis
MONDO:0015580	distal monosomy 7q36
MONDO:0015583	2p21 microdeletion syndrome
MONDO:0015584	febrile infection-related epilepsy syndrome
MONDO:0015587	rolandic epilepsy-speech dyspraxia syndrome
MONDO:0015599	atopic keratoconjunctivitis
MONDO:0015600	X-linked intellectual disability, Cilliers type
MONDO:0015601	X-linked intellectual disability, Van Esch type
MONDO:0015605	distal monosomy 9p
MONDO:0015606	Xp22.3 microdeletion syndrome
MONDO:0015607	partial chromosome Y deletion
MONDO:0015612	Dent disease
MONDO:0015613	dentin dysplasia
MONDO:0015614	dermatitis herpetiformis
MONDO:0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly
MONDO:0015633	Bazex syndrome
MONDO:0015634	isolated osteopoikilosis
MONDO:0015660	sporadic fetal brain disruption sequence
MONDO:0015661	dextrocardia
MONDO:0015663	diencephalic syndrome
MONDO:0015665	scleromyxedema
MONDO:0015672	diprosopus
MONDO:0015674	Late-infantile neuronal ceroid lipofuscinosis
MONDO:0015681	childhood disintegrative disorder
MONDO:0015686	primary peritoneal carcinoma
MONDO:0015695	combined immunodeficiency due to CRAC channel dysfunction
MONDO:0015696	Good syndrome
MONDO:0015701	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
MONDO:0015703	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
MONDO:0015705	autosomal recessive centronuclear myopathy
MONDO:0015706	mosaic trisomy 1
MONDO:0015712	non-distal trisomy 10q
MONDO:0015719	severe hemophilia A
MONDO:0015720	moderately severe hemophilia A
MONDO:0015723	trisomy 12p
MONDO:0015724	non-distal trisomy 13q
MONDO:0015725	mosaic trisomy 14
MONDO:0015726	distal trisomy 14q
MONDO:0015727	mosaic trisomy 15
MONDO:0015728	distal trisomy 15q
MONDO:0015729	mosaic trisomy 16
MONDO:0015735	severe congenital nemaline myopathy
MONDO:0015736	intermediate nemaline myopathy
MONDO:0015737	typical nemaline myopathy
MONDO:0015738	childhood-onset nemaline myopathy
MONDO:0015739	adult-onset nemaline myopathy
MONDO:0015740	trisomy 18p
MONDO:0015741	distal trisomy 18q
MONDO:0015745	microcephaly-polymicrogyria-corpus callosum agenesis syndrome
MONDO:0015746	male infertility due to globozoospermia
MONDO:0015749	6q16 deletion syndrome
MONDO:0015751	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
MONDO:0015752	intellectual disability-cataracts-kyphosis syndrome
MONDO:0015753	cap myopathy
MONDO:0015761	trisomy 10p
MONDO:0015762	progressive familial intrahepatic cholestasis
MONDO:0015764	mosaic trisomy 20
MONDO:0015766	cholera
MONDO:0015767	trisomy 4p
MONDO:0015768	trisomy 5p
MONDO:0015769	distal trisomy 6p
MONDO:0015772	trisomy 8q
MONDO:0015773	fibular dimelia-diplopodia syndrome
MONDO:0015774	thoraco-abdominal enteric duplication
MONDO:0015776	rhizomelic chondrodysplasia punctata
MONDO:0015779	45,X/46,XY mixed gonadal dysgenesis
MONDO:0015780	dyskeratosis congenita
MONDO:0015781	facial dysmorphism-shawl scrotum-joint laxity syndrome
MONDO:0015782	dysmorphism-cleft palate-loose skin syndrome
MONDO:0015783	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
MONDO:0015784	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
MONDO:0015785	Prader-Willi syndrome due to translocation
MONDO:0015786	Prader-Willi syndrome due to imprinting mutation
MONDO:0015787	symptomatic form of hemophilia A in female carriers
MONDO:0015790	central diabetes insipidus
MONDO:0015793	moderate multiminicore disease with hand involvement
MONDO:0015794	antenatal multiminicore disease with arthrogryposis multiplex congenita
MONDO:0015796	acute lung injury
MONDO:0015800	osteosclerosis-developmental delay-craniosynostosis syndrome
MONDO:0015802	autosomal dominant non-syndromic intellectual disability
MONDO:0015803	wound botulism
MONDO:0015804	infant botulism
MONDO:0015805	intestinal botulism
MONDO:0015806	adult intestinal botulism
MONDO:0015824	oculomaxillofacial dysostosis
MONDO:0015826	autosomal dominant spondylocostal dysostosis
MONDO:0015827	distal renal tubular acidosis
MONDO:0015863	polyembryoma
MONDO:0015883	hidrotic ectodermal dysplasia, Halal type
MONDO:0015884	Autosomal dominant hypohidrotic ectodermal dysplasia
MONDO:0015892	growth hormone insensitivity syndrome
MONDO:0015908	chromomycosis
MONDO:0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MONDO:0015939	systemic autoimmune disease
MONDO:0015941	epiphyseal dysplasia-hearing loss-dysmorphism syndrome
MONDO:0015942	frontometaphyseal dysplasia
MONDO:0015943	eosinophilic granulomatosis with polyangiitis
MONDO:0015944	axial mesodermal dysplasia spectrum
MONDO:0015986	bilateral renal agenesis
MONDO:0015987	scimitar syndrome
MONDO:0015993	cone-rod dystrophy
MONDO:0015995	melorheostosis with osteopoikilosis
MONDO:0015998	isolated ectopia lentis
MONDO:0015999	primary pigmented nodular adrenocortical disease
MONDO:0016002	Ehlers-Danlos syndrome, kyphoscoliotic type 1
MONDO:0016004	aminopterin/methotrexate embryofetopathy
MONDO:0016005	indomethacin embryofetopathy
MONDO:0016006	Cockayne syndrome
MONDO:0016007	cocaine embryofetopathy
MONDO:0016008	fetal hydantoin syndrome
MONDO:0016009	fetal trimethadione syndrome
MONDO:0016010	vitamin K-antagonist embryofetopathy
MONDO:0016011	fetal alcohol syndrome
MONDO:0016012	diethylstilbestrol syndrome
MONDO:0016013	fetal methylmercury syndrome
MONDO:0016014	fetal minoxidil syndrome
MONDO:0016015	phenobarbital embryopathy
MONDO:0016016	toluene embryopathy
MONDO:0016017	methimazole embryofetopathy
MONDO:0016018	diabetic embryopathy
MONDO:0016019	Rasmussen subacute encephalitis
MONDO:0016020	frontal encephalocele
MONDO:0016022	Early myoclonic encephalopathy
MONDO:0016025	myoclonic-astastic epilepsy
MONDO:0016027	benign neonatal seizures
MONDO:0016030	Evans syndrome
MONDO:0016031	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
MONDO:0016033	Cornelia de Lange syndrome
MONDO:0016034	cleft lip with or without cleft palate
MONDO:0016035	Nelson syndrome
MONDO:0016036	Ledderhose disease
MONDO:0016039	infantile digital fibromatosis
MONDO:0016042	late-onset isolated ACTH deficiency
MONDO:0016043	isolated cleft lip
MONDO:0016044	cleft lip/palate
MONDO:0016045	tetragametic chimerism
MONDO:0016051	cleft lip-retinopathy syndrome
MONDO:0016059	cleft lip/palate-deafness-sacral lipoma syndrome
MONDO:0016060	laryngotracheoesophageal cleft
MONDO:0016063	Cowden disease
MONDO:0016065	cleft palate-short stature-vertebral anomalies syndrome
MONDO:0016066	sternal cleft
MONDO:0016067	Crandall syndrome
MONDO:0016068	fibrochondrogenesis
MONDO:0016070	hereditary gingival fibromatosis
MONDO:0016071	juvenile hyaline fibromatosis
MONDO:0016079	sporadic Creutzfeldt-Jakob disease
MONDO:0016080	congenital bronchobiliary fistula
MONDO:0016083	FLOTCH syndrome
MONDO:0016085	Cole-Carpenter syndrome
MONDO:0016087	progressive non-infectious anterior vertebral fusion
MONDO:0016089	infantile Krabbe disease
MONDO:0016090	late-infantile/juvenile Krabbe disease
MONDO:0016091	adult Krabbe disease
MONDO:0016098	immune-mediated necrotizing myopathy
MONDO:0016129	eosinophilic gastroenteritis
MONDO:0016158	narcolepsy-cataplexy syndrome
MONDO:0016159	Gemignani syndrome
MONDO:0016162	bilateral frontal polymicrogyria
MONDO:0016167	optic pathway glioma
MONDO:0016171	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
MONDO:0016176	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
MONDO:0016203	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
MONDO:0016205	IRVAN syndrome
MONDO:0016206	idiopathic uveal effusion syndrome
MONDO:0016214	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
MONDO:0016217	mal de Debarquement
MONDO:0016219	dysmorphism-pectus carinatum-joint laxity syndrome
MONDO:0016237	diffuse neonatal hemangiomatosis
MONDO:0016238	solitary fibrous tumor
MONDO:0016239	Cystinosis
MONDO:0016241	alternating hemiplegia of childhood
MONDO:0016244	Atypical hemolytic uremic syndrome
MONDO:0016256	Hennekam syndrome
MONDO:0016264	autoimmune hepatitis
MONDO:0016281	46,XX ovotesticular disorder of sex development
MONDO:0016290	Hernández-Aguirre Negrete syndrome
MONDO:0016291	craniosynostosis, Herrmann-Opitz type
MONDO:0016292	nodular neuronal heterotopia
MONDO:0016293	congenital stationary night blindness
MONDO:0016294	Hirschsprung disease-type D brachydactyly syndrome
MONDO:0016296	holoprosencephaly
MONDO:0016299	holoprosencephaly-caudal dysgenesis syndrome
MONDO:0016301	congenitally corrected transposition of the great arteries
MONDO:0016304	classic pantothenate kinase-associated neurodegeneration
MONDO:0016305	atypical pantothenate kinase-associated neurodegeneration
MONDO:0016315	mucopolysaccharidosis type 2, severe form
MONDO:0016316	mucopolysaccharidosis type 2, attenuated form
MONDO:0016318	progressive multifocal leukoencephalopathy
MONDO:0016331	infantile systemic hyalinosis
MONDO:0016333	familial dilated cardiomyopathy
MONDO:0016344	Hydranencephaly
MONDO:0016346	hydrocephalus-obesity-hypogonadism syndrome
MONDO:0016349	congenital hydrocephalus
MONDO:0016352	idiopathic inherited hypercalciuria
MONDO:0016353	palmoplantar keratoderma-spastic paralysis syndrome
MONDO:0016354	xeroderma pigmentosum-Cockayne syndrome complex
MONDO:0016355	semilobar holoprosencephaly
MONDO:0016356	diffuse cutaneous systemic sclerosis
MONDO:0016357	dysplastic cortical hyperostosis
MONDO:0016358	limited cutaneous systemic sclerosis
MONDO:0016362	attenuated familial adenomatous polyposis
MONDO:0016364	Joubert syndrome with ocular defect
MONDO:0016366	maternal phenylketonuria
MONDO:0016367	dermatomyositis
MONDO:0016368	Rothmund-Thomson syndrome type 1
MONDO:0016369	Rothmund-Thomson syndrome type 2
MONDO:0016370	Marchiafava-Bignami disease
MONDO:0016372	glossopharyngeal neuralgia
MONDO:0016378	maternal hyperthermia induced birth defects
MONDO:0016379	erosive pustular dermatosis of the scalp
MONDO:0016380	acquired hypertrichosis lanuginosa
MONDO:0016381	hypertrichosis lanuginosa congenita
MONDO:0016383	Nephrogenic diabetes insipidus
MONDO:0016385	hypogonadism-mitral valve prolapse-intellectual disability syndrome
MONDO:0016386	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
MONDO:0016390	familial hypoparathyroidism
MONDO:0016392	cerebellar hypoplasia-tapetoretinal degeneration syndrome
MONDO:0016393	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
MONDO:0016394	sporadic infantile bilateral striatal necrosis
MONDO:0016395	foveal hypoplasia-presenile cataract syndrome
MONDO:0016407	oligomeganephronia
MONDO:0016408	permanent congenital hypothyroidism
MONDO:0016411	hypothyroidism due to deficient transcription factors involved in pituitary development or function
MONDO:0016413	congenital hypothyroidism due to maternal intake of antithyroid drugs
MONDO:0016414	hypotrichosis-intellectual disability, Lopes type
MONDO:0016416	diphallia
MONDO:0016417	congenital ichthyosis-microcephalus-tetraplegia syndrome
MONDO:0016418	multiple system atrophy, cerebellar type
MONDO:0016419	hereditary breast carcinoma
MONDO:0016422	autoimmune polyendocrinopathy type 3
MONDO:0016423	autoimmune polyendocrinopathy type 4
MONDO:0016425	Hughes-Stovin syndrome
MONDO:0016426	fusariosis
MONDO:0016433	dysmorphism-short stature-deafness-disorder of sex development syndrome
MONDO:0016439	elastoderma
MONDO:0016445	familial anetoderma
MONDO:0016450	autoimmune hemolytic anemia, cold type
MONDO:0016453	foodborne botulism
MONDO:0016456	5q14.3 microdeletion syndrome
MONDO:0016457	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
MONDO:0016458	8q12 microduplication syndrome
MONDO:0016459	2q23.1 microdeletion syndrome
MONDO:0016460	polyvalvular heart disease syndrome
MONDO:0016461	5q35 microduplication syndrome
MONDO:0016462	isolated agammaglobulinemia
MONDO:0016464	insulin-resistance syndrome type B
MONDO:0016466	asbestosis
MONDO:0016467	isotretinoin syndrome
MONDO:0016468	toxin-mediated infectious botulism
MONDO:0016471	pachyonychia congenita
MONDO:0016472	dracunculiasis
MONDO:0016474	drug-induced lupus erythematosus
MONDO:0016479	silver-Russell syndrome due to 7p11.2p13 microduplication
MONDO:0016480	silver-Russell syndrome due to an imprinting defect of 11p15
MONDO:0016481	silver-Russell syndrome due to 11p15 microduplication
MONDO:0016482	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
MONDO:0016483	intracranial berry aneurysm
MONDO:0016484	Usher syndrome type 2
MONDO:0016485	Usher Syndrome, Type III
MONDO:0016486	beta-thalassemia major
MONDO:0016487	beta-thalassemia intermedia
MONDO:0016489	delta-beta-thalassemia
MONDO:0016490	hemoglobin C-beta-thalassemia syndrome
MONDO:0016491	hemoglobin E-beta-thalassemia syndrome
MONDO:0016497	paraparetic variant of Guillain-Barre syndrome
MONDO:0016504	primary unilateral adrenal hyperplasia
MONDO:0016505	aldosterone-producing adrenal cortex adenoma
MONDO:0016506	ectopic aldosterone-producing tumor
MONDO:0016509	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
MONDO:0016512	Kabuki syndrome
MONDO:0016514	epidermolysis bullosa simplex with anodontia/hypodontia
MONDO:0016515	Kallmann syndrome-heart disease syndrome
MONDO:0016520	isolated Klippel-Feil syndrome
MONDO:0016521	muscular pseudohypertrophy-hypothyroidism syndrome
MONDO:0016523	bronchogenic cyst
MONDO:0016526	trisomy 9p
MONDO:0016527	glycogen storage disease due to lactate dehydrogenase deficiency
MONDO:0016528	limb body wall complex
MONDO:0016529	duplication of urethra
MONDO:0016532	Lennox-Gastaut syndrome
MONDO:0016535	hypohidrotic ectodermal dysplasia
MONDO:0016545	leukoencephalopathy-palmoplantar keratoderma syndrome
MONDO:0016546	primary orthostatic tremor
MONDO:0016557	leukonychia totalis
MONDO:0016558	familial congenital mirror movements
MONDO:0016561	1q44 microdeletion syndrome
MONDO:0016562	progressive supranuclear palsy-pure akinesia with gait freezing syndrome
MONDO:0016563	progressive supranuclear palsy-corticobasal syndrome
MONDO:0016564	progressive supranuclear palsy-progressive non-fluent aphasia syndrome
MONDO:0016567	locked-in syndrome
MONDO:0016568	Lowe-Kohn-Cohen syndrome
MONDO:0016574	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
MONDO:0016575	primary ciliary dyskinesia
MONDO:0016576	split hand-foot malformation
MONDO:0016580	congenital pulmonary airway malformation
MONDO:0016581	conotruncal heart malformations
MONDO:0016584	mandibuloacral dysplasia
MONDO:0016591	sporadic adult-onset ataxia of unknown etiology
MONDO:0016594	superficial siderosis
MONDO:0016595	inhalational anthrax
MONDO:0016596	hyperphosphatasia-intellectual disability syndrome
MONDO:0016603	citrullinemia type II
MONDO:0016604	dysraphism-cleft lip/palate-limb reduction defects syndrome
MONDO:0016608	megalencephaly
MONDO:0016613	APC-related attenuated familial adenomatous polyposis
MONDO:0016614	autosomal recessive ataxia due to PEX10 deficiency
MONDO:0016619	autosomal recessive hypohidrotic ectodermal dysplasia
MONDO:0016621	juvenile Huntington disease
MONDO:0016639	lower limb deficiency-hypospadias syndrome
MONDO:0016641	limb transversal defect-cardiac anomaly syndrome
MONDO:0016642	meningioma
MONDO:0016647	autosomal recessive Stickler syndrome
MONDO:0016649	Warburg micro syndrome
MONDO:0016650	paternal uniparental disomy of chromosome 1
MONDO:0016651	maternal uniparental disomy of chromosome 1
MONDO:0016652	2q31.1 microdeletion syndrome
MONDO:0016653	2q33.1 microdeletion syndrome
MONDO:0016655	6p22 microdeletion syndrome
MONDO:0016657	8p11.2 deletion syndrome
MONDO:0016658	8p23.1 microdeletion syndrome
MONDO:0016659	8p23.1 duplication syndrome
MONDO:0016660	autosomal recessive primary microcephaly
MONDO:0016673	localized junctional epidermolysis bullosa, non-Herlitz type
MONDO:0016674	46,XY partial gonadal dysgenesis
MONDO:0016675	distal arthrogryposis type 10
MONDO:0016698	ependymoma
MONDO:0016699	myxopapillary ependymoma
MONDO:0016719	microcephaly-seizures-intellectual disability-heart disease syndrome
MONDO:0016722	Pineoblastoma
MONDO:0016723	pineocytoma
MONDO:0016724	papillary tumor of the pineal region
MONDO:0016730	gangliocytoma
MONDO:0016748	hemangioblastoma
MONDO:0016750	microcephaly-cleft palate syndrome
MONDO:0016755	neurofibroma
MONDO:0016758	microcephaly-brain defect-spasticity-hypernatremia syndrome
MONDO:0016759	pontocerebellar hypoplasia type 2
MONDO:0016760	microcephaly-microcornea syndrome, Seemanova type
MONDO:0016765	19p13.12 microdeletion syndrome
MONDO:0016775	lichen planus pemphigoides
MONDO:0016777	inhalational botulism
MONDO:0016778	iatrogenic botulism
MONDO:0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
MONDO:0016780	paternal 14q32.2 microdeletion syndrome
MONDO:0016781	maternal 14q32.2 microdeletion syndrome
MONDO:0016782	paternal 14q32.2 hypomethylation syndrome
MONDO:0016783	maternal 14q32.2 hypermethylation syndrome
MONDO:0016788	genetic hyperferritinemia without iron overload
MONDO:0016807	pure mitochondrial myopathy
MONDO:0016810	autosomal recessive progressive external ophthalmoplegia
MONDO:0016812	dopa-responsive dystonia
MONDO:0016814	maternally-inherited Leigh syndrome
MONDO:0016815	Leigh syndrome with leukodystrophy
MONDO:0016816	Leigh syndrome with nephrotic syndrome
MONDO:0016817	Meier-Gorlin syndrome
MONDO:0016819	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
MONDO:0016820	Moyamoya disease
MONDO:0016822	myalgia-eosinophilia syndrome associated with tryptophan
MONDO:0016823	mycetoma
MONDO:0016824	infantile myofibromatosis
MONDO:0016825	mitochondrial myopathy-lactic acidosis-deafness syndrome
MONDO:0016826	methylmalonic acidemia with homocystinuria
MONDO:0016829	familial visceral myopathy
MONDO:0016830	Emery-Dreifuss muscular dystrophy
MONDO:0016831	linear verrucous nevus syndrome
MONDO:0016832	distal 7q11.23 microduplication syndrome
MONDO:0016833	14q12 microdeletion syndrome
MONDO:0016834	16p11.2p12.2 microduplication syndrome
MONDO:0016836	16p13.11 microdeletion syndrome
MONDO:0016837	16p13.11 microduplication syndrome
MONDO:0016838	16q24.3 microdeletion syndrome
MONDO:0016840	trisomy 17p
MONDO:0016841	20p12.3 microdeletion syndrome
MONDO:0016842	paternal 20q13.2q13.3 microdeletion syndrome
MONDO:0016843	20q13.33 microdeletion syndrome
MONDO:0016844	trisomy 20p
MONDO:0016845	21q22.11q22.12 microdeletion syndrome
MONDO:0016846	distal 22q11.2 microduplication syndrome
MONDO:0016847	trisomy 1q
MONDO:0016848	juvenile temporal arteritis
MONDO:0016851	maternal uniparental disomy of chromosome X
MONDO:0016852	paternal uniparental disomy of chromosome X
MONDO:0016853	ring chromosome Y
MONDO:0016854	49,XXXYY syndrome
MONDO:0016855	Mowat-Wilson syndrome due to monosomy 2q22
MONDO:0016856	Mowat-Wilson syndrome due to a ZEB2 point mutation
MONDO:0016860	familial adenomatous polyposis due to 5q22.2 microdeletion
MONDO:0016862	Alagille syndrome due to a JAG1 point mutation
MONDO:0016865	Kleefstra syndrome due to a point mutation
MONDO:0016889	partial deletion of the short arm of chromosome 7
MONDO:0016899	Duchenne and Becker muscular dystrophy
MONDO:0016946	partial trisomy of the short arm of chromosome 9
MONDO:0016981	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
MONDO:0016988	hyperinsulinism due to HNF4A deficiency
MONDO:0016994	microcephalic osteodysplastic primordial dwarfism types I and III
MONDO:0016996	NK-cell enteropathy
MONDO:0017013	trisomy 8p
MONDO:0017042	thanatophoric dysplasia
MONDO:0017048	pseudomyxoma peritonei
MONDO:0017049	hypomyelination neuropathy-arthrogryposis syndrome
MONDO:0017055	mycophenolate mofetil embryopathy
MONDO:0017056	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
MONDO:0017076	posterior meningocele
MONDO:0017091	bilateral polymicrogyria
MONDO:0017092	unilateral polymicrogyria
MONDO:0017093	unilateral focal polymicrogyria
MONDO:0017100	neutropenia-monocytopenia-deafness syndrome
MONDO:0017134	odonto-onycho dysplasia-alopecia syndrome
MONDO:0017135	olivopontocerebellar atrophy-deafness syndrome
MONDO:0017138	Opitz G/BBB syndrome
MONDO:0017140	L1 syndrome
MONDO:0017147	idiopathic pulmonary arterial hypertension
MONDO:0017160	behavioral variant of frontotemporal dementia
MONDO:0017161	frontotemporal dementia with motor neuron disease
MONDO:0017162	imperforate oropharynx-costo vetebral anomalies syndrome
MONDO:0017174	Machado-Joseph disease type 1
MONDO:0017175	Machado-Joseph disease type 2
MONDO:0017176	Machado-Joseph disease type 3
MONDO:0017177	hemihyperplasia-multiple lipomatosis syndrome
MONDO:0017178	osteochondritis dissecans
MONDO:0017180	10q22.3q23.3 microduplication syndrome
MONDO:0017183	hyperinsulinism due to UCP2 deficiency
MONDO:0017184	autosomal dominant hyperinsulinism due to SUR1 deficiency
MONDO:0017185	autosomal dominant hyperinsulinism due to Kir6.2 deficiency
MONDO:0017189	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
MONDO:0017190	sporadic pheochromocytoma/secreting paraganglioma
MONDO:0017193	symptomatic form of Coffin-Lowry syndrome in female carriers
MONDO:0017194	Blount disease
MONDO:0017195	Bruck syndrome
MONDO:0017196	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
MONDO:0017197	osteopathia striata-pigmentary dermopathy-white forelock syndrome
MONDO:0017199	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
MONDO:0017200	polycystic ovaries-urethral sphincter dysfunction syndrome
MONDO:0017201	Spasmus nutans
MONDO:0017213	postorgasmic illness syndrome
MONDO:0017214	vitamin B12-responsive methylmalonic acidemia
MONDO:0017215	calciphylaxis
MONDO:0017218	septopreoptic holoprosencephaly
MONDO:0017219	microform holoprosencephaly
MONDO:0017221	Pelizaeus-Merzbacher disease, connatal form
MONDO:0017222	Pelizaeus-Merzbacher disease, classic form
MONDO:0017223	Pelizaeus-Merzbacher disease, transitional form
MONDO:0017224	Pelizaeus-Merzbacher disease in female carriers
MONDO:0017225	null syndrome
MONDO:0017230	autosomal semi-dominant severe lipodystrophic laminopathy
MONDO:0017232	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
MONDO:0017233	familial Alzheimer-like prion disease
MONDO:0017240	acrodysostosis with multiple hormone resistance
MONDO:0017241	AP4-related intellectual disability and spastic paraplegia
MONDO:0017242	cutaneous collagenous vasculopathy
MONDO:0017243	bullous diffuse cutaneous mastocytosis
MONDO:0017244	pseudoxanthomatous diffuse cutaneous mastocytosis
MONDO:0017256	idiopathic anterior uveitis
MONDO:0017258	idiopathic panuveitis
MONDO:0017264	syndromic recessive X-linked ichthyosis
MONDO:0017267	self-healing collodion baby
MONDO:0017268	acral self-healing collodion baby
MONDO:0017275	spastic paraplegia-facial-cutaneous lesions syndrome
MONDO:0017278	autoimmune polyendocrinopathy
MONDO:0017279	young-onset Parkinson disease
MONDO:0017281	renal caliceal diverticuli-deafness syndrome
MONDO:0017282	alveolar echinococcosis
MONDO:0017283	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
MONDO:0017284	Xp22.13p22.2 duplication syndrome
MONDO:0017285	penoscrotal transposition
MONDO:0017286	tempi syndrome
MONDO:0017291	reversible cerebral vasoconstriction syndrome
MONDO:0017298	acute zonal occult outer retinopathy
MONDO:0017301	pericardial and diaphragmatic defect
MONDO:0017309	neonatal Marfan syndrome
MONDO:0017314	Ehlers-Danlos syndrome, vascular type
MONDO:0017315	short stature-webbed neck-heart disease syndrome
MONDO:0017316	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
MONDO:0017318	phakomatosis pigmentovascularis
MONDO:0017319	hereditary elliptocytosis
MONDO:0017321	pili torti-onychodysplasia syndrome
MONDO:0017324	autosomal recessive hypophosphatemic rickets
MONDO:0017325	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
MONDO:0017333	Pol III-related leukodystrophy
MONDO:0017335	microtriplication 11q24.1
MONDO:0017337	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
MONDO:0017340	juvenile nasopharyngeal angiofibroma
MONDO:0017360	vitamin B12-unresponsive methylmalonic acidemia type mut0
MONDO:0017361	congenital rubella syndrome
MONDO:0017362	neuralgic amyotrophy
MONDO:0017364	POEMS syndrome
MONDO:0017365	hereditary acrokeratotic poikiloderma, Weary type
MONDO:0017366	hereditary pheochromocytoma-paraganglioma
MONDO:0017372	congenital varicella syndrome
MONDO:0017373	poliomyelitis
MONDO:0017375	congenital enterovirus infection
MONDO:0017376	reactive arthritis
MONDO:0017377	preaxial polydactyly-colobomata-intellectual disability syndrome
MONDO:0017379	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
MONDO:0017380	juvenile polyposis syndrome
MONDO:0017381	congenital herpes simplex virus infection
MONDO:0017394	ketamine-induced biliary dilatation
MONDO:0017395	fixed pigmented erythema
MONDO:0017398	3MC syndrome
MONDO:0017400	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
MONDO:0017404	distal Xq28 microduplication syndrome
MONDO:0017405	1p21.3 microdeletion syndrome
MONDO:0017406	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
MONDO:0017407	deficiency in anterior pituitary function - variable immunodeficiency syndrome
MONDO:0017408	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
MONDO:0017409	fetal cytomegalovirus syndrome
MONDO:0017410	porencephaly
MONDO:0017411	neonatal inflammatory skin and bowel disease
MONDO:0017416	postpoliomyelitis syndrome
MONDO:0017441	congenital absence of upper arm and forearm with hand present
MONDO:0017453	fetal parvovirus syndrome
MONDO:0017471	congenital patella dislocation
MONDO:0017568	Prata-Liberal-Goncalves syndrome
MONDO:0017569	de Barsy syndrome
MONDO:0017570	leukocyte adhesion deficiency
MONDO:0017571	Proteus-like syndrome
MONDO:0017572	tick-borne encephalitis
MONDO:0017573	46,XX disorder of sex development-anorectal anomalies syndrome
MONDO:0017574	chronic intestinal pseudoobstruction
MONDO:0017575	mitochondrial neurogastrointestinal encephalomyopathy
MONDO:0017577	spontaneous periodic hypothermia
MONDO:0017579	Baraitser-Winter cerebrofrontofacial syndrome
MONDO:0017580	11p15.4 microduplication syndrome
MONDO:0017581	familial infantile gigantism
MONDO:0017582	pituitary adenocarcinoma
MONDO:0017583	mirror polydactyly-vertebral segmentation-limbs defects syndrome
MONDO:0017584	Sagliker syndrome
MONDO:0017593	juvenile amyotrophic lateral sclerosis
MONDO:0017607	caudal regression sequence
MONDO:0017609	renal tubular dysgenesis
MONDO:0017614	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
MONDO:0017615	benign familial infantile epilepsy
MONDO:0017623	PTEN hamartoma tumor syndrome
MONDO:0017630	X-linked complicated spastic paraplegia type 1
MONDO:0017636	hemiparkinsonism-hemiatrophy syndrome
MONDO:0017638	manganese poisoning
MONDO:0017639	carbon monoxide-induced parkinsonism
MONDO:0017640	cyanide-induced parkinsonism
MONDO:0017648	Sydenham chorea
MONDO:0017649	hemidystonia-hemiatrophy syndrome
MONDO:0017668	intellectual disability-short stature-hypertelorism syndrome
MONDO:0017682	intellectual disability-polydactyly-uncombable hair syndrome
MONDO:0017694	glycogen storage disease due to acid maltase deficiency, infantile onset
MONDO:0017711	pancreatic colipase deficiency
MONDO:0017715	3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0017729	metachromatic leukodystrophy, late infantile form
MONDO:0017730	Metachromatic leukodystrophy, adult type
MONDO:0017732	alpha-mannosidosis, infantile form
MONDO:0017733	alpha-mannosidosis, adult form
MONDO:0017735	congenital aortic valve stenosis
MONDO:0017746	Atypical Rett syndrome
MONDO:0017767	rheumatic fever
MONDO:0017771	Mayer-Rokitansky-Kuster-Hauser syndrome
MONDO:0017772	oral erosive lichen
MONDO:0017775	melioidosis
MONDO:0017776	nocardiosis
MONDO:0017778	lamellar ichthyosis
MONDO:0017779	alpha-N-acetylgalactosaminidase deficiency
MONDO:0017780	20p13 microdeletion syndrome
MONDO:0017782	developmental and speech delay due to SOX5 deficiency
MONDO:0017783	congenital pancreatic cyst
MONDO:0017786	2q23.1 microduplication syndrome
MONDO:0017787	erythroderma desquamativum
MONDO:0017790	gastric adenocarcinoma and proximal polyposis of the stomach
MONDO:0017792	7p22.1 microduplication syndrome
MONDO:0017794	Xq12-q13.3 duplication syndrome
MONDO:0017802	ovarian fibrothecoma
MONDO:0017805	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
MONDO:0017806	15q overgrowth syndrome
MONDO:0017808	duplication of the pituitary gland
MONDO:0017809	parkinsonism due to ATP13A2 deficiency
MONDO:0017810	variant ABeta2M amyloidosis
MONDO:0017811	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
MONDO:0017813	van Maldergem syndrome
MONDO:0017823	somatomammotropinoma
MONDO:0017830	severe Canavan disease
MONDO:0017831	Canavan disease, mild
MONDO:0017836	erythrokeratoderma en cocardes
MONDO:0017837	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
MONDO:0017838	sclerosteosis
MONDO:0017842	Senior-Loken syndrome
MONDO:0017844	Sezary syndrome
MONDO:0017850	sirenomelia
MONDO:0017851	erythrokeratodermia variabilis
MONDO:0017852	infantile spasms-broad thumbs syndrome
MONDO:0017856	X-linked spasticity-intellectual disability-epilepsy syndrome
MONDO:0017857	spina bifida-hypospadias syndrome
MONDO:0017858	acute erythroid leukemia
MONDO:0017859	colchicine poisoning
MONDO:0017860	methanol poisoning
MONDO:0017861	ethylene glycol poisoning
MONDO:0017864	congenital pulmonary veins atresia or stenosis
MONDO:0017865	congenital pulmonary valve stenosis
MONDO:0017867	distal 17p13.1 microdeletion syndrome
MONDO:0017869	chondroectodermal dysplasia with night blindness
MONDO:0017872	Lujo hemorrhagic fever
MONDO:0017880	Rift valley fever
MONDO:0017884	papillary renal cell carcinoma
MONDO:0017895	familial papillary or follicular thyroid carcinoma
MONDO:0017904	steroid dehydrogenase deficiency-dental anomalies syndrome
MONDO:0017909	inherited glutathione synthetase deficiency
MONDO:0017910	dehydrated hereditary stomatocytosis
MONDO:0017917	maternally-inherited spastic paraplegia
MONDO:0017918	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
MONDO:0017919	bladder exstrophy-epispadias-cloacal exstrophy complex
MONDO:0017920	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
MONDO:0017921	hearing loss-familial salivary gland insensitivity to aldosterone syndrome
MONDO:0017923	multiple synostoses syndrome
MONDO:0017924	central nervous system calcification-deafness-tubular acidosis-anemia syndrome
MONDO:0017928	9p13 microdeletion syndrome
MONDO:0017932	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
MONDO:0017934	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
MONDO:0017935	hyperinsulinism due to HNF1A deficiency
MONDO:0017936	benign Samaritan congenital myopathy
MONDO:0017939	Classic multiminicore myopathy
MONDO:0017941	chikungunya
MONDO:0017943	autoerythrocyte sensitization syndrome
MONDO:0017945	ABetaL34V amyloidosis
MONDO:0017946	ABeta amyloidosis, Iowa type
MONDO:0017947	ABeta amyloidosis, Italian type
MONDO:0017949	ABeta amyloidosis, Arctic type
MONDO:0017967	testicular agenesis
MONDO:0017968	46,XY ovotesticular disorder of sex development
MONDO:0017979	autoimmune lymphoproliferative syndrome
MONDO:0017983	humero-radio-ulnar synostosis
MONDO:0017984	familial lambdoid synostosis
MONDO:0017985	congenital radioulnar synostosis
MONDO:0017989	His bundle tachycardia
MONDO:0017990	catecholaminergic polymorphic ventricular tachycardia
MONDO:0017991	Takayasu arteritis
MONDO:0017994	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
MONDO:0017995	spondylocostal dysostosis-hypospadias-intellectual disability syndrome
MONDO:0017999	fatty acid hydroxylase-associated neurodegeneration
MONDO:0018002	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
MONDO:0018005	Spastic paraplegia-Paget disease of bone syndrome
MONDO:0018006	adult-onset distal myopathy due to VCP mutation
MONDO:0018013	non-immunoglobulin-mediated membranoproliferative glomerulonephritis
MONDO:0018015	intermittent hydrarthrosis
MONDO:0018018	wild type ATTR amyloidosis
MONDO:0018019	lead poisoning
MONDO:0018020	mercury poisoning
MONDO:0018023	hemoglobin M disease
MONDO:0018025	chronic actinic dermatitis
MONDO:0018026	tetraploidy syndrome
MONDO:0018027	duplication/inversion 15q11
MONDO:0018028	tetrasomy 5p
MONDO:0018029	congenital factor XIII deficiency
MONDO:0018030	tetrasomy 9p
MONDO:0018031	granulomatous slack skin disease
MONDO:0018034	thalidomide embryopathy
MONDO:0018039	selective IgM deficiency
MONDO:0018043	Thomas syndrome
MONDO:0018044	idiopathic hypersomnia
MONDO:0018045	Hoyeraal-Hreidarsson syndrome
MONDO:0018048	heparin-induced thrombocytopenia
MONDO:0018050	tibial aplasia-ectrodactyly syndrome
MONDO:0018051	Jessner lymphocytic infiltration of the skin
MONDO:0018052	hypoplastic tibiae-postaxial polydactyly syndrome
MONDO:0018053	trichothiodystrophy
MONDO:0018055	Childhood hepatocellular carcinoma
MONDO:0018056	bullous lichen planus
MONDO:0018058	tracheal agenesis
MONDO:0018059	meningococcal meningitis
MONDO:0018060	congenital fibrinogen deficiency
MONDO:0018061	trichodermodysplasia-dental alterations syndrome
MONDO:0018063	nodular non-suppurative panniculitis
MONDO:0018065	isolated trigonocephaly
MONDO:0018066	trisomy X
MONDO:0018067	triploidy
MONDO:0018068	trisomy 13
MONDO:0018069	distal trisomy 17q
MONDO:0018071	trisomy 18
MONDO:0018072	persistent truncus arteriosus
MONDO:0018076	tuberculosis
MONDO:0018077	tularemia
MONDO:0018081	hemorrhagic fever-renal syndrome
MONDO:0018082	aorto-ventricular tunnel
MONDO:0018085	umbilical cord ulceration-intestinal atresia syndrome
MONDO:0018086	ulerythema ophryogenesis
MONDO:0018088	familial Mediterranean fever
MONDO:0018089	double outlet right ventricle
MONDO:0018091	microcephaly-brachydactyly-kyphoscoliosis syndrome
MONDO:0018092	Vogt-Koyanagi-Harada disease
MONDO:0018094	Waardenburg syndrome
MONDO:0018095	Weaver-Williams syndrome
MONDO:0018096	Weill-Marchesani syndrome
MONDO:0018097	West syndrome
MONDO:0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia
MONDO:0018103	Quinquaud's folliculitis decalvans
MONDO:0018105	Wolfram syndrome
MONDO:0018106	hereditary xanthinuria
MONDO:0018112	isolated scaphocephaly
MONDO:0018113	isolated plagiocephaly
MONDO:0018114	isolated brachycephaly
MONDO:0018115	epidermal nevus syndrome
MONDO:0018116	galactosemia
MONDO:0018123	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
MONDO:0018124	Oncogenic osteomalacia
MONDO:0018126	progressive myoclonic epilepsy with dystonia
MONDO:0018129	autosomal recessive cerebellar ataxia with late-onset spasticity
MONDO:0018130	brain dopamine-serotonin vesicular transport disease
MONDO:0018131	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
MONDO:0018133	attenuated Chédiak-Higashi syndrome
MONDO:0018135	oculocutaneous albinism type 1
MONDO:0018144	congenital myasthenic syndromes with glycosylation defect
MONDO:0018149	GM1 gangliosidosis
MONDO:0018150	Gaucher disease
MONDO:0018153	Erdheim-Chester disease
MONDO:0018155	lateral sclerosis
MONDO:0018160	hereditary retinoblastoma
MONDO:0018163	autosomal recessive cutis laxa type 2A
MONDO:0018166	oral submucous fibrosis
MONDO:0018168	primary non-essential cutis verticis gyrata
MONDO:0018169	morning glory syndrome
MONDO:0018175	combined deficiency of factor V and factor VIII
MONDO:0018177	glioblastoma
MONDO:0018182	bullous impetigo
MONDO:0018183	staphylococcal necrotizing pneumonia
MONDO:0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
MONDO:0018198	acute encephalopathy with biphasic seizures and late reduced diffusion
MONDO:0018199	new-onset refractory status epilepticus
MONDO:0018203	LMNA-related cardiocutaneous progeria syndrome
MONDO:0018204	20q11.2 microduplication syndrome
MONDO:0018205	distal monosomy 1q
MONDO:0018208	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
MONDO:0018212	familial cervical artery dissection
MONDO:0018214	generalized epilepsy with febrile seizures plus
MONDO:0018216	17q21.31 microdeletion syndrome
MONDO:0018217	Koolen-de Vries syndrome due to a point mutation
MONDO:0018222	X-linked intellectual disability due to GRIA3 anomalies
MONDO:0018227	hypocomplementemic urticarial vasculitis
MONDO:0018229	Stevens-Johnson syndrome
MONDO:0018242	autoimmune hypoparathyroidism
MONDO:0018243	intellectual disability-hyperkinetic movement-truncal ataxia syndrome
MONDO:0018244	Obesity due to SIM1 deficiency
MONDO:0018248	intellectual disability-seizures-macrocephaly-obesity syndrome
MONDO:0018251	glycogen storage disease due to phosphorylase kinase deficiency
MONDO:0018253	intellectual disability-facial dysmorphism-hand anomalies syndrome
MONDO:0018264	oculocutaneous albinism type 6
MONDO:0018271	peripheral primitive neuroectodermal tumor
MONDO:0018273	XYLT1-CDG
MONDO:0018274	GM3 synthase deficiency
MONDO:0018277	congenital muscular dystrophy with cerebellar involvement
MONDO:0018278	congenital muscular dystrophy with intellectual disability
MONDO:0018279	congenital muscular dystrophy without intellectual disability
MONDO:0018280	muscle-eye-brain disease with bilateral multicystic leucodystrophy
MONDO:0018298	multicentric osteolysis-nodulosis-arthropathy spectrum
MONDO:0018301	interstitial cystitis
MONDO:0018304	Schnitzler syndrome
MONDO:0018305	chronic granulomatous disease
MONDO:0018306	Griscelli syndrome
MONDO:0018307	neurodegeneration with brain iron accumulation
MONDO:0018309	Hirschsprung disease
MONDO:0018320	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
MONDO:0018321	atypical juvenile parkinsonism
MONDO:0018322	HSD10 disease, infantile type
MONDO:0018323	HSD10 disease, neonatal type
MONDO:0018328	homozygous familial hypercholesterolemia
MONDO:0018334	chronic hiccup
MONDO:0018341	3q27.3 microdeletion syndrome
MONDO:0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
MONDO:0018347	severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
MONDO:0018349	MAN1B1-CDG
MONDO:0018353	refractory celiac disease
MONDO:0018354	Prader-Willi-like syndrome
MONDO:0018355	Prader-Willi-like syndrome due to point mutation
MONDO:0018360	neonatal lupus erythematosus
MONDO:0018362	persistent idiopathic facial pain
MONDO:0018370	KLHL9-related early-onset distal myopathy
MONDO:0018371	nebulin-related early-onset distal myopathy
MONDO:0018376	secondary non-traumatic avascular necrosis
MONDO:0018393	male infertility with azoospermia or oligozoospermia due to single gene mutation
MONDO:0018394	male infertility with teratozoospermia due to single gene mutation
MONDO:0018398	female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0018402	female infertility due to gonadal dysgenesis
MONDO:0018407	male infertility due to obstructive azoospermia of genetic origin
MONDO:0018408	cystic echinococcosis
MONDO:0018416	autosomal recessive spastic paraplegia type 59
MONDO:0018417	autosomal recessive spastic paraplegia type 60
MONDO:0018418	autosomal recessive spastic paraplegia type 66
MONDO:0018419	autosomal recessive spastic paraplegia type 67
MONDO:0018421	autosomal recessive spastic paraplegia type 69
MONDO:0018422	autosomal recessive spastic paraplegia type 70
MONDO:0018423	autosomal recessive spastic paraplegia type 71
MONDO:0018425	Huntington disease-like syndrome due to C9ORF72 expansions
MONDO:0018426	AXIN2-related attenuated familial adenomatous polyposis
MONDO:0018428	9q31.1q31.3 microdeletion syndrome
MONDO:0018429	14q24.1q24.3 microdeletion syndrome
MONDO:0018442	acitretin/etretinate embryopathy
MONDO:0018443	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
MONDO:0018458	familial hypocalciuric hypercalcemia
MONDO:0018459	isolated glycerol kinase deficiency
MONDO:0018461	Angelman syndrome due to a point mutation
MONDO:0018462	Angelman syndrome due to imprinting defect in 15q11-q13
MONDO:0018463	mild phosphoribosylpyrophosphate synthetase superactivity
MONDO:0018464	severe phosphoribosylpyrophosphate synthetase superactivity
MONDO:0018465	insulin autoimmune syndrome
MONDO:0018466	Hereditary late onset Parkinson disease
MONDO:0018467	nephropathic infantile cystinosis
MONDO:0018468	proton-pump inhibitor-responsive esophageal eosinophilia
MONDO:0018469	pulmonary non-tuberculous mycobacterial infection
MONDO:0018470	renal agenesis
MONDO:0018471	generalized eruptive keratoacanthoma
MONDO:0018473	hyperlipoproteinemia type 3
MONDO:0018474	13q12.3 microdeletion syndrome
MONDO:0018475	PRKAR1B-related neurodegenerative dementia with intermediate filaments
MONDO:0018476	dystonia-aphonia syndrome
MONDO:0018489	autoimmune encephalopathy with parasomnia and obstructive sleep apnea
MONDO:0018490	cono-spondylar dysplasia
MONDO:0018493	malignant hyperthermia of anesthesia
MONDO:0018495	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
MONDO:0018528	congenital myopathy with myasthenic-like onset
MONDO:0018540	PFAPA syndrome
MONDO:0018541	familial hypoaldosteronism
MONDO:0018543	autosomal dominant hypocalcemia
MONDO:0018544	adrenoleukodystrophy
MONDO:0018546	serotonin syndrome
MONDO:0018555	hypogonadotropic hypogonadism
MONDO:0018556	Lambert-Eaton myasthenic syndrome
MONDO:0018564	3p25.3 microdeletion syndrome
MONDO:0018566	short stature-advanced bone age-early-onset osteoarthritis syndrome
MONDO:0018569	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
MONDO:0018570	hypophosphatasia
MONDO:0018571	contractures-developmental delay-Pierre Robin syndrome
MONDO:0018572	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
MONDO:0018573	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
MONDO:0018574	intellectual disability-expressive aphasia-facial dysmorphism syndrome
MONDO:0018575	microcephalic primordial dwarfism-insulin resistance syndrome
MONDO:0018576	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
MONDO:0018577	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
MONDO:0018580	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
MONDO:0018582	GCGR-related hyperglucagonemia
MONDO:0018589	AApoAIV amyloidosis
MONDO:0018601	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
MONDO:0018604	familial colorectal cancer type X
MONDO:0018607	combined hamartoma of the retina and retinal pigment epithelium
MONDO:0018608	pure autonomic failure
MONDO:0018612	Congenital hypothyroidism
MONDO:0018614	undetermined early-onset epileptic encephalopathy
MONDO:0018631	Marie Unna hereditary hypotrichosis
MONDO:0018632	11q22.2q22.3 microdeletion syndrome
MONDO:0018633	20q11.2 microdeletion syndrome
MONDO:0018636	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
MONDO:0018637	familial chylomicronemia syndrome
MONDO:0018644	autosomal dominant complex spastic paraplegia type 9B
MONDO:0018649	cerebral visual impairment
MONDO:0018653	Polymerase proofreading-related adenomatous polyposis
MONDO:0018656	tremor-ataxia-central hypomyelination syndrome
MONDO:0018657	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
MONDO:0018658	19p13.3 microduplication syndrome
MONDO:0018661	Zika virus infectious disease
MONDO:0018668	scedosporiosis
MONDO:0018669	snakebite envenomation
MONDO:0018670	symptomatic form of fragile X syndrome in female carrier
MONDO:0018671	IgG4-related kidney disease
MONDO:0018672	IgG4-related aortitis
MONDO:0018673	IgG4-related pachymeningitis
MONDO:0018674	IgG4-related submandibular gland disease
MONDO:0018675	IgG4-related ophthalmic disease
MONDO:0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
MONDO:0018682	congenital insensitivity to pain with severe intellectual disability
MONDO:0018683	acquired ichthyosis
MONDO:0018684	idiopathic neonatal atrial flutter
MONDO:0018685	incessant infant ventricular tachycardia
MONDO:0018690	Holmes-Adie syndrome
MONDO:0018695	avian influenza
MONDO:0018696	corticobasal syndrome
MONDO:0018703	isolated splenogonadal fusion
MONDO:0018705	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
MONDO:0018709	X-linked intellectual disability-hypotonia-movement disorder syndrome
MONDO:0018710	megalencephaly-severe kyphoscoliosis-overgrowth syndrome
MONDO:0018711	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
MONDO:0018724	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
MONDO:0018725	corpus callosum agenesis-macrocephaly-hypertelorism syndrome
MONDO:0018733	intellectual disability syndrome due to a DYRK1A point mutation
MONDO:0018734	verrucous hemangioma
MONDO:0018735	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
MONDO:0018736	kaposiform lymphangiomatosis
MONDO:0018737	catastrophic antiphospholipid syndrome
MONDO:0018739	neonatal alloimmune neutropenia
MONDO:0018740	drug-induced methemoglobinemia
MONDO:0018746	mucous membrane pemphigoid
MONDO:0018747	acquired epidermolysis bullosa
MONDO:0018748	linear IgA Dermatosis
MONDO:0018749	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
MONDO:0018752	exercise-induced malignant hyperthermia
MONDO:0018755	scorpion envenomation
MONDO:0018760	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
MONDO:0018764	microcephalic primordial dwarfism due to RTTN deficiency
MONDO:0018767	severe primary trimethylaminuria
MONDO:0018768	familial cold autoinflammatory syndrome
MONDO:0018770	Jeune syndrome
MONDO:0018772	Joubert syndrome
MONDO:0018781	KID syndrome
MONDO:0018793	primary condylar hyperplasia
MONDO:0018794	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
MONDO:0018800	Hypogonadism with anosmia
MONDO:0018801	congenital bilateral absence of vas deferens
MONDO:0018808	Caroli syndrome
MONDO:0018812	MSH3-related attenuated familial adenomatous polyposis
MONDO:0018816	isolated neonatal sclerosing cholangitis
MONDO:0018820	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
MONDO:0018821	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
MONDO:0018822	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
MONDO:0018823	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
MONDO:0018824	pyoderma gangrenosum
MONDO:0018825	PYCR2-related microcephaly-progressive leukoencephalopathy
MONDO:0018828	pseudo-TORCH syndrome 2
MONDO:0018830	Kimura disease
MONDO:0018834	adenylosuccinate synthetase-like 1-related distal myopathy
MONDO:0018835	nodular regenerative hyperplasia of the liver
MONDO:0018842	primary effusion lymphoma
MONDO:0018845	focal myositis
MONDO:0018846	penile agenesis
MONDO:0018848	IgG4-related retroperitoneal fibrosis
MONDO:0018849	dentinogenesis imperfecta
MONDO:0018850	proliferating trichilemmal cyst
MONDO:0018851	familial keratoacanthoma
MONDO:0018852	achromatopsia
MONDO:0018853	transgrediens et progrediens palmoplantar keratoderma
MONDO:0018854	acquired purpura fulminans
MONDO:0018855	keratosis pilaris atrophicans
MONDO:0018856	lichen amyloidosis
MONDO:0018858	Graham Little-Piccardi-Lassueur syndrome
MONDO:0018860	microlissencephaly-micromelia syndrome
MONDO:0018861	Zellweger-like syndrome without peroxisomal anomalies
MONDO:0018864	Kikuchi-Fujimoto disease
MONDO:0018865	striate palmoplantar keratoderma
MONDO:0018866	Aicardi-Goutieres syndrome
MONDO:0018868	metachromatic leukodystrophy
MONDO:0018870	arterial calcification of infancy
MONDO:0018871	acute myelomonocytic leukemia M4
MONDO:0018873	anterior cutaneous nerve entrapment syndrome
MONDO:0018874	acute myeloid leukemia
MONDO:0018875	Li-Fraumeni syndrome
MONDO:0018876	Mantle cell lymphoma
MONDO:0018877	retinitis punctata albescens
MONDO:0018878	branchiootic syndrome
MONDO:0018879	lichen planopilaris
MONDO:0018881	myelodysplastic syndrome
MONDO:0018883	Berardinelli-Seip congenital lipodystrophy
MONDO:0018884	Roch-Leri mesosomatous lipomatosis
MONDO:0018890	Lyell syndrome
MONDO:0018891	familial tumoral calcinosis
MONDO:0018892	Wyburn-Mason syndrome
MONDO:0018893	Cobb syndrome
MONDO:0018895	Plummer-Vinson syndrome
MONDO:0018896	Thrombotic thrombocytopenic purpura
MONDO:0018899	posterior cortical atrophy
MONDO:0018900	corticosteroid-sensitive aseptic abscess syndrome
MONDO:0018904	primary membranoproliferative glomerulonephritis
MONDO:0018906	follicular lymphoma
MONDO:0018907	craniopharyngioma
MONDO:0018910	oculocutaneous albinism
MONDO:0018911	maturity-onset diabetes of the young
MONDO:0018913	malakoplakia
MONDO:0018914	hypotrichosis simplex
MONDO:0018916	isolated anorectal malformation
MONDO:0018919	McCune-Albright syndrome
MONDO:0018920	peripartum cardiomyopathy
MONDO:0018921	Meckel syndrome
MONDO:0018922	cold agglutinin disease
MONDO:0018923	22q11.2 deletion syndrome
MONDO:0018924	microphthalmia, Lenz type
MONDO:0018925	familial or sporadic hemiplegic migraine
MONDO:0018927	SUNCT syndrome
MONDO:0018929	medial condensing osteitis of the clavicle
MONDO:0018931	mucolipidosis type III
MONDO:0018933	Mazabraud syndrome
MONDO:0018937	mucopolysaccharidosis type 3
MONDO:0018938	mucopolysaccharidosis type 4
MONDO:0018939	muscle-eye-brain disease
MONDO:0018940	congenital myasthenic syndrome
MONDO:0018942	macrophagic myofasciitis
MONDO:0018945	McLeod neuroacanthocytosis syndrome
MONDO:0018946	rhombencephalosynapsis
MONDO:0018948	multiminicore myopathy
MONDO:0018950	3-methylcrotonyl-CoA carboxylase deficiency
MONDO:0018951	distal myopathy with vocal cord weakness
MONDO:0018953	parietal foramina
MONDO:0018954	Loeys-Dietz syndrome
MONDO:0018955	recurrent respiratory papillomatosis
MONDO:0018956	Idiopathic bronchiectasis
MONDO:0018957	pudendal neuralgia
MONDO:0018959	potassium-aggravated myotonia
MONDO:0018960	congenital primary megaureter
MONDO:0018961	familial melanoma
MONDO:0018963	Hereditary methemoglobinemia
MONDO:0018964	Homocystinuria without methylmalonic aciduria
MONDO:0018965	Alport syndrome
MONDO:0018968	iniencephaly
MONDO:0018969	craniorachischisis
MONDO:0018971	isolated oxycephaly
MONDO:0018974	paraneoplastic pemphigus
MONDO:0018975	neurofibromatosis type 1
MONDO:0018976	schisis association
MONDO:0018977	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
MONDO:0018979	multifocal motor neuropathy
MONDO:0018982	Niemann-Pick disease, type C
MONDO:0018996	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
MONDO:0018997	Noonan syndrome
MONDO:0018998	Leber congenital amaurosis
MONDO:0018999	LCAT deficiency
MONDO:0019000	perineural cyst
MONDO:0019002	Lhermitte-Duclos disease
MONDO:0019003	multiple endocrine neoplasia type 2
MONDO:0019004	kidney Wilms tumor
MONDO:0019005	nephronophthisis
MONDO:0019008	benign recurrent intrahepatic cholestasis
MONDO:0019009	isolated focal cortical dysplasia
MONDO:0019012	Carpenter syndrome
MONDO:0019015	omphalocele
MONDO:0019016	maternally-inherited progressive external ophthalmoplegia
MONDO:0019017	short fifth metacarpals-insulin resistance syndrome
MONDO:0019018	Tako-tsubo cardiomyopathy
MONDO:0019019	osteogenesis imperfecta
MONDO:0019020	PANDAS
MONDO:0019022	sensorineural hearing loss-early graying-essential tremor syndrome
MONDO:0019024	mast cell sarcoma
MONDO:0019026	autosomal recessive osteopetrosis
MONDO:0019028	amoebiasis due to Entamoeba histolytica
MONDO:0019031	thrombocytopenia with congenital dyserythropoietic anemia
MONDO:0019032	Mental retardation, X-linked, with isolated growth hormone deficiency
MONDO:0019035	pancreatoblastoma
MONDO:0019036	amoebiasis due to free-living amoebae
MONDO:0019037	progressive supranuclear palsy
MONDO:0019067	idiopathic steroid-sensitive nephrotic syndrome
MONDO:0019068	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
MONDO:0019072	intrahepatic cholestasis
MONDO:0019073	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MONDO:0019074	bilateral acute depigmentation of the iris
MONDO:0019076	circumscribed palmoplantar hypokeratosis
MONDO:0019078	Ritscher-Schinzel syndrome
MONDO:0019079	proximal spinal muscular atrophy
MONDO:0019080	alopecia totalis
MONDO:0019082	bullous pemphigoid
MONDO:0019083	Leigh syndrome with cardiomyopathy
MONDO:0019084	radiation proctitis
MONDO:0019085	vernal keratoconjunctivitis
MONDO:0019086	carcinoma of esophagus
MONDO:0019087	cholangiocarcinoma
MONDO:0019091	bronchopulmonary dysplasia
MONDO:0019093	immunodeficiency due to selective anti-polysaccharide antibody deficiency
MONDO:0019095	plague
MONDO:0019098	autoimmune thrombocytopenia
MONDO:0019100	neuromyelitis optica
MONDO:0019101	retinal capillary malformation
MONDO:0019102	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
MONDO:0019104	Sandifer syndrome
MONDO:0019105	renal nutcracker syndrome
MONDO:0019107	Rh deficiency syndrome
MONDO:0019108	silent sinus syndrome
MONDO:0019111	familial thrombocytosis
MONDO:0019112	cancer-associated retinopathy
MONDO:0019113	benign paroxysmal torticollis of infancy
MONDO:0019114	psychogenic movement disorders
MONDO:0019115	obesity due to melanocortin 4 receptor deficiency
MONDO:0019120	pili bifurcati
MONDO:0019121	pneumocystosis
MONDO:0019122	idiopathic acute eosinophilic pneumonia
MONDO:0019123	continuous spikes and waves during sleep
MONDO:0019124	microscopic polyangiitis
MONDO:0019125	relapsing polychondritis
MONDO:0019127	polymyositis
MONDO:0019129	global developmental delay-osteopenia-ectodermal defect syndrome
MONDO:0019130	tubular renal disease-cardiomyopathy syndrome
MONDO:0019131	ossification anomalies-psychomotor developmental delay syndrome
MONDO:0019132	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
MONDO:0019133	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
MONDO:0019134	central neurocytoma
MONDO:0019136	Zygomycosis
MONDO:0019137	non-24-hour sleep-wake syndrome
MONDO:0019141	porokeratosis of Mibelli
MONDO:0019142	inherited porphyria
MONDO:0019143	angiostrongyliasis
MONDO:0019144	hereditary thrombophilia due to congenital protein S deficiency
MONDO:0019145	hereditary thrombophilia due to congenital protein C deficiency
MONDO:0019148	Wolman disease
MONDO:0019149	cholesteryl ester storage disease
MONDO:0019150	Familial isolated restrictive cardiomyopathy
MONDO:0019151	oligocone trichromacy
MONDO:0019152	Oguchi disease
MONDO:0019153	brain malformation-congenital heart disease-postaxial polydactyly syndrome
MONDO:0019154	androgen insensitivity syndrome
MONDO:0019155	Leydig cell hypoplasia
MONDO:0019157	Sideroblastic anemia, acquired idiopathic
MONDO:0019158	tropical endomyocardial fibrosis
MONDO:0019160	primary progressive freezing gait
MONDO:0019162	pseudohypoaldosteronism type 2
MONDO:0019164	6q terminal deletion syndrome
MONDO:0019165	central precocious puberty
MONDO:0019167	immunoglobulin a vasculitis
MONDO:0019168	pyomyositis
MONDO:0019169	pyruvate dehydrogenase deficiency
MONDO:0019170	polyarteritis nodosa
MONDO:0019173	rabies
MONDO:0019176	trichorhinophalangeal syndrome type I or III
MONDO:0019178	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
MONDO:0019179	monosomy 9q22.3
MONDO:0019180	hereditary hemorrhagic telangiectasia
MONDO:0019181	non-syndromic X-linked intellectual disability
MONDO:0019182	monogenic obesity
MONDO:0019186	Q fever
MONDO:0019187	Axenfeld-Rieger syndrome
MONDO:0019188	Rubinstein-Taybi syndrome
MONDO:0019190	Juvenile polyposis of infancy
MONDO:0019192	AKT2-related familial partial lipodystrophy
MONDO:0019193	acquired generalized lipodystrophy
MONDO:0019199	interstitial granulomatous dermatitis with arthritis
MONDO:0019200	retinitis pigmentosa
MONDO:0019201	thyrotoxic periodic paralysis
MONDO:0019203	acute interstitial pneumonia
MONDO:0019205	trichodysplasia-amelogenesis imperfecta syndrome
MONDO:0019207	DEND syndrome
MONDO:0019209	Japanese encephalitis
MONDO:0019210	cutaneous neuroendocrine carcinoma
MONDO:0019212	disseminated superficial actinic porokeratosis
MONDO:0019218	inborn disorder of bile acid synthesis
MONDO:0019257	Hemochromatosis type 2
MONDO:0019259	classic phenylketonuria
MONDO:0019260	adult neuronal ceroid lipofuscinosis
MONDO:0019261	infantile neuronal ceroid lipofuscinosis
MONDO:0019262	juvenile neuronal ceroid lipofuscinosis
MONDO:0019263	autosomal erythropoietic protoporphyria
MONDO:0019264	alpha-N-acetylgalactosaminidase deficiency type 3
MONDO:0019266	SAPHO syndrome
MONDO:0019267	vitamin B12-unresponsive methylmalonic acidemia type mut-
MONDO:0019272	hereditary palmoplantar keratoderma
MONDO:0019306	congenital non-bullous ichthyosiform erythroderma
MONDO:0019307	generalized junctional epidermolysis bullosa non-Herlitz type
MONDO:0019308	junctional epidermolysis bullosa inversa
MONDO:0019309	late-onset junctional epidermolysis bullosa
MONDO:0019310	recessive dystrophic epidermolysis bullosa inversa
MONDO:0019312	Hermansky-Pudlak syndrome
MONDO:0019313	hereditary lymphedema
MONDO:0019314	cutaneous mastocytoma
MONDO:0019315	diffuse cutaneous mastocytosis
MONDO:0019316	maculopapular cutaneous mastocytosis
MONDO:0019321	atypical Werner syndrome
MONDO:0019323	pemphigus erythematosus
MONDO:0019324	pemphigus foliaceus
MONDO:0019330	pili gemini
MONDO:0019332	punctate palmoplantar keratoderma type 1
MONDO:0019336	Gardner syndrome
MONDO:0019338	sarcoidosis
MONDO:0019339	47,XYY syndrome
MONDO:0019340	scleroderma
MONDO:0019341	tuberous sclerosis complex
MONDO:0019342	Seckel syndrome
MONDO:0019344	antisynthetase syndrome
MONDO:0019345	shigellosis
MONDO:0019346	sialidosis type 1
MONDO:0019349	Sotos syndrome
MONDO:0019350	hereditary spherocytosis
MONDO:0019353	Stargardt disease
MONDO:0019354	Stickler syndrome
MONDO:0019355	adult-onset Still disease
MONDO:0019358	encephalopathy due to sulfite oxidase deficiency
MONDO:0019365	scrub typhus
MONDO:0019366	free sialic acid storage disease
MONDO:0019367	regional odontodysplasia
MONDO:0019369	complex regional pain syndrome
MONDO:0019370	vulvovaginal gingival syndrome
MONDO:0019371	narcolepsy without cataplexy
MONDO:0019372	solitary bone cyst
MONDO:0019373	desmoplastic small round cell tumor
MONDO:0019374	CAMOS syndrome
MONDO:0019375	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MONDO:0019383	acute disseminated encephalomyelitis
MONDO:0019384	encephalitis lethargica
MONDO:0019385	steroid-responsive encephalopathy associated with autoimmune thyroiditis
MONDO:0019387	macrostomia-preauricular tags-external ophthalmoplegia syndrome
MONDO:0019388	pelvis syndrome
MONDO:0019390	Susac syndrome
MONDO:0019391	Fanconi anemia
MONDO:0019392	syringocystadenoma papilliferum
MONDO:0019395	Hinman syndrome
MONDO:0019399	Isaac syndrome
MONDO:0019402	beta thalassemia
MONDO:0019405	facial onset sensory and motor neuronopathy
MONDO:0019406	craniofacial conodysplasia
MONDO:0019407	microcephalic osteodysplastic dysplasia, Saul-Wilson type
MONDO:0019408	Astley-Kendall dysplasia
MONDO:0019409	idiopathic juvenile osteoporosis
MONDO:0019411	genochondromatosis type 1
MONDO:0019412	dysspondyloenchondromatosis
MONDO:0019414	BRESEK syndrome
MONDO:0019415	fetal and neonatal alloimmune thrombocytopenia
MONDO:0019416	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
MONDO:0019418	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
MONDO:0019419	X-linked intellectual disability-macrocephaly-macroorchidism syndrome
MONDO:0019420	X-linked intellectual disability, Pai type
MONDO:0019421	X-linked intellectual disability, Seemanova type
MONDO:0019422	X-linked intellectual disability, Stevenson type
MONDO:0019423	X-linked intellectual disability, Stoll type
MONDO:0019424	X-linked intellectual disability-acromegaly-hyperactivity syndrome
MONDO:0019427	X-linked neurodegenerative syndrome, Bertini type
MONDO:0019428	fried syndrome
MONDO:0019429	X-linked neurodegenerative syndrome, Hamel type
MONDO:0019430	X-linked intellectual disability-ataxia-apraxia syndrome
MONDO:0019432	rheumatoid factor-negative juvenile idiopathic arthritis
MONDO:0019433	oligoarticular juvenile idiopathic arthritis
MONDO:0019434	systemic-onset juvenile idiopathic arthritis
MONDO:0019435	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
MONDO:0019436	psoriasis-related juvenile idiopathic arthritis
MONDO:0019437	enthesitis-related juvenile idiopathic arthritis
MONDO:0019438	AL amyloidosis
MONDO:0019439	AA amyloidosis
MONDO:0019440	wild type ABeta2M amyloidosis
MONDO:0019444	Trichinellosis
MONDO:0019448	benign adult familial myoclonic epilepsy
MONDO:0019454	myelodysplastic syndrome with excess blasts
MONDO:0019455	acute panmyelosis with myelofibrosis
MONDO:0019475	subcutaneous panniculitis-like T-cell lymphoma
MONDO:0019486	myoclonic epilepsy of infancy
MONDO:0019489	diffuse palmoplantar keratoderma - acrocyanosis syndrome
MONDO:0019490	progressive familial heart block
MONDO:0019497	nonsyndromic genetic deafness
MONDO:0019499	Turner syndrome
MONDO:0019501	Usher syndrome
MONDO:0019502	autosomal recessive non-syndromic intellectual disability
MONDO:0019505	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
MONDO:0019506	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
MONDO:0019507	amelogenesis imperfecta
MONDO:0019508	van der Woude syndrome
MONDO:0019509	cutaneous leukocytoclastic angiitis
MONDO:0019514	hepatic veno-occlusive disease
MONDO:0019517	Waardenburg syndrome type 2
MONDO:0019518	Waardenburg-Shah syndrome
MONDO:0019522	recessive dystrophic epidermolysis bullosa-generalized other
MONDO:0019524	infantile Bartter syndrome with sensorineural deafness
MONDO:0019525	tetrasomy X
MONDO:0019526	erythema elevatum diutinum
MONDO:0019528	IgG4-related hepatopathy
MONDO:0019531	hemolytic anemia due to glutathione reductase deficiency
MONDO:0019532	autoimmune hemolytic anemia, warm type
MONDO:0019533	paroxysmal cold hemoglobinuria
MONDO:0019534	mixed-type autoimmune hemolytic anemia
MONDO:0019535	drug-induced autoimmune hemolytic anemia
MONDO:0019536	typical hemolytic-uremic syndrome
MONDO:0019540	diffuse alveolar hemorrhage
MONDO:0019542	acute liver failure
MONDO:0019543	acquired aneurysmal subarachnoid hemorrhage
MONDO:0019544	cocaine intoxication
MONDO:0019547	Wells syndrome
MONDO:0019552	centrifugal lipodystrophy
MONDO:0019553	drug-induced localized lipodystrophy
MONDO:0019554	idiopathic localized lipodystrophy
MONDO:0019555	panniculitis and localized lipodystrophy
MONDO:0019556	pressure-induced localized lipoatrophy
MONDO:0019557	chilblain lupus
MONDO:0019560	lupus erythematosus tumidus
MONDO:0019562	localized scleroderma
MONDO:0019565	hereditary von Willebrand disease
MONDO:0019567	Ehlers-Danlos syndrome, classic type, 1
MONDO:0019568	Ehlers-Danlos syndrome, classic type, 2
MONDO:0019569	Cockayne syndrome type 1
MONDO:0019570	Cockayne syndrome type 2
MONDO:0019571	Cutis laxa, autosomal dominant
MONDO:0019572	autosomal recessive cutis laxa type 1
MONDO:0019574	secondary intestinal lymphangiectasia
MONDO:0019591	panhypopituitarism
MONDO:0019597	46,XY disorder of sex development due to isolated 17,20-lyase deficiency
MONDO:0019599	primary lipodystrophy
MONDO:0019600	Xeroderma pigmentosum
MONDO:0019603	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
MONDO:0019609	Zellweger spectrum disorders
MONDO:0019610	Zollinger-Ellison syndrome
MONDO:0019611	TSH-secreting pituitary adenoma
MONDO:0019612	functioning gonadotropic adenoma
MONDO:0019613	non-functioning pituitary adenoma
MONDO:0019614	pituitary deficiency due to Rathke's pouch cysts
MONDO:0019615	pituitary dermoid and epidermoid cysts
MONDO:0019617	pituitary deficiency due to empty sella turcica syndrome
MONDO:0019618	Sheehan syndrome
MONDO:0019625	familial thoracic aortic aneurysm and aortic dissection
MONDO:0019627	isolated congenital alacrima
MONDO:0019632	Lyme disease
MONDO:0019633	relapsing fever
MONDO:0019634	familial nasal acilia
MONDO:0019635	idiopathic achalasia
MONDO:0019637	Renal hypoplasia (disease)
MONDO:0019639	congenital megacalycosis
MONDO:0019640	posterior urethral valve
MONDO:0019641	pauci-immune glomerulonephritis
MONDO:0019642	vitamin D-dependent rickets, type 2
MONDO:0019648	achondrogenesis
MONDO:0019659	Pfeiffer syndrome type 1
MONDO:0019660	Pfeiffer syndrome type 2
MONDO:0019661	Pfeiffer syndrome type 3
MONDO:0019664	short rib-polydactyly syndrome, Verma-Naumoff type
MONDO:0019666	spondyloepimetaphyseal dysplasia, PAPSS2 type
MONDO:0019667	spondyloepiphyseal dysplasia tarda
MONDO:0019670	ulnar hemimelia
MONDO:0019671	radial hemimelia
MONDO:0019672	fibular hemimelia
MONDO:0019675	spondyloepimetaphyseal dysplasia with joint laxity
MONDO:0019676	brachydactyly type B
MONDO:0019677	brachydactyly type E
MONDO:0019679	brachydactyly type A7
MONDO:0019681	juvenile sialidosis type 2
MONDO:0019682	congenital sialidosis type 2
MONDO:0019683	syndactyly type 2
MONDO:0019693	multiple metaphyseal dysplasia
MONDO:0019725	pediatric systemic lupus erythematosus
MONDO:0019756	lobar holoprosencephaly
MONDO:0019757	Alobar holoprosencephaly
MONDO:0019758	midline interhemispheric variant of holoprosencephaly
MONDO:0019759	epispadias
MONDO:0019764	laryngotracheoesophageal cleft type 4
MONDO:0019766	X-linked intellectual disability, Porteous type
MONDO:0019767	hamel cerebro-palato-cardiac syndrome
MONDO:0019768	X-linked intellectual disability, Golabi-Ito-hall type
MONDO:0019769	X-linked intellectual disability, Sutherland-Haan type
MONDO:0019771	oromandibular dystonia
MONDO:0019783	neovascular glaucoma
MONDO:0019784	12q14 microdeletion syndrome
MONDO:0019786	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
MONDO:0019788	non-secreting paraganglioma
MONDO:0019790	neuroleptic malignant syndrome
MONDO:0019791	recessive mitochondrial ataxia syndrome
MONDO:0019795	acalvaria
MONDO:0019797	acrodysostosis
MONDO:0019799	hepatoerythropoietic porphyria
MONDO:0019801	acute adrenal insufficiency
MONDO:0019802	secondary short bowel syndrome
MONDO:0019803	angioma serpiginosum
MONDO:0019810	toxic epidermal necrolysis
MONDO:0019813	congenital tricuspid stenosis
MONDO:0019828	Pituitary stalk interruption syndrome
MONDO:0019838	adenohypophysitis
MONDO:0019839	panhypophysitis
MONDO:0019845	iatrogenic or traumatic pituitary deficiency
MONDO:0019846	acquired central diabetes insipidus
MONDO:0019848	posterior hypospadias
MONDO:0019849	isolated micropenis
MONDO:0019854	thyroid ectopia
MONDO:0019855	athyreosis
MONDO:0019857	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
MONDO:0019858	idiopathic congenital hypothyroidism
MONDO:0019860	thyroid hemiagenesis
MONDO:0019861	thyroid hypoplasia
MONDO:0019867	mosaic trisomy 8
MONDO:0019876	8p inverted duplication/deletion syndrome
MONDO:0019880	distal trisomy 5q
MONDO:0019891	monosomy 22
MONDO:0019893	distal monosomy 19p13.3
MONDO:0019896	Kleefstra syndrome due to 9q34 microdeletion
MONDO:0019897	distal monosomy 12q
MONDO:0019902	monosomy 13q34
MONDO:0019907	ring chromosome 13
MONDO:0019910	maternal uniparental disomy of chromosome 2
MONDO:0019911	maternal uniparental disomy of chromosome 4
MONDO:0019912	maternal uniparental disomy of chromosome 6
MONDO:0019913	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
MONDO:0019914	maternal uniparental disomy of chromosome 9
MONDO:0019915	maternal uniparental disomy of chromosome 14
MONDO:0019917	maternal uniparental disomy of chromosome 20
MONDO:0019920	paternal uniparental disomy of chromosome 5
MONDO:0019921	paternal uniparental disomy of chromosome 6
MONDO:0019926	X small rings
MONDO:0019928	48,XXXY syndrome
MONDO:0019929	49,XXXXY syndrome
MONDO:0019933	acromegaly
MONDO:0019939	early-onset schizophrenia
MONDO:0019940	hypertrichosis-acromegaloid facial appearance syndrome
MONDO:0019941	hereditary sensory and autonomic neuropathy type 2
MONDO:0019943	hereditary continuous muscle fiber activity
MONDO:0019944	Eisenmenger syndrome
MONDO:0019945	solar urticaria
MONDO:0019947	rippling muscle disease 2
MONDO:0019949	zebra body myopathy
MONDO:0019951	rigid spine syndrome
MONDO:0019955	GRFoma
MONDO:0019957	PPoma
MONDO:0019959	glucagonoma
MONDO:0019960	VIPoma
MONDO:0019962	thyroid lymphoma
MONDO:0019963	bronchial endocrine tumor
MONDO:0019964	thymic neuroendocrine tumor
MONDO:0019967	Kienbock disease
MONDO:0019969	panner disease
MONDO:0019970	Sinding-Larsen-Johansson disease
MONDO:0019973	persistent placoid maculopathy
MONDO:0019977	parkinsonism with dementia of Guadeloupe
MONDO:0019978	Robinow syndrome
MONDO:0020048	internal carotid agenesis
MONDO:0020090	male infertility due to gonadal dysgenesis
MONDO:0020091	male infertility due to obstructive azoospermia
MONDO:0020098	constitutional anemia due to iron metabolism disorder
MONDO:0020101	constitutional hemolytic anemia due to membrane defect
MONDO:0020103	constitutional hemolytic anemia due to acanthocytosis
MONDO:0020108	autoimmune hemolytic anemia
MONDO:0020298	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
MONDO:0020300	Autosomal dominant nocturnal frontal lobe epilepsy
MONDO:0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion
MONDO:0020302	Angelman syndrome due to maternal 15q11q13 deletion
MONDO:0020303	Angelman syndrome due to paternal uniparental disomy of chromosome 15
MONDO:0020304	isochromosomy Yp
MONDO:0020305	isochromosomy Yq
MONDO:0020306	absent tibia-polydactyly syndrome
MONDO:0020310	familial focal epilepsy with variable foci
MONDO:0020315	unclassified myelodysplastic syndrome
MONDO:0020331	indolent systemic mastocytosis
MONDO:0020332	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
MONDO:0020333	aggressive systemic mastocytosis
MONDO:0020336	autosomal dominant Emery-Dreifuss muscular dystrophy
MONDO:0020340	bilateral perisylvian polymicrogyria
MONDO:0020341	periventricular nodular heterotopia
MONDO:0020344	postsynaptic congenital myasthenic syndrome
MONDO:0020345	presynaptic congenital myasthenic syndrome
MONDO:0020346	synaptic congenital myasthenic syndrome
MONDO:0020347	acute inflammatory demyelinating polyradiculoneuropathy
MONDO:0020352	multiple system atrophy, parkinsonian type
MONDO:0020364	posterior polymorphous corneal dystrophy
MONDO:0020366	congenital glaucoma
MONDO:0020367	juvenile open angle glaucoma
MONDO:0020380	autosomal dominant cerebellar ataxia
MONDO:0020391	pulmonary artery coming from the aorta
MONDO:0020434	Secundum atrial septal defect
MONDO:0020435	atrial septal defect, coronary sinus type
MONDO:0020436	atrial septal defect, sinus venosus type
MONDO:0020437	atrial septal defect, ostium primum type
MONDO:0020458	hemolytic anemia due to erythrocyte adenosine deaminase overproduction
MONDO:0020460	acquired von willebrand syndrome
MONDO:0020466	monosomy X
MONDO:0020467	mosaic monosomy X
MONDO:0020469	48,XYYY syndrome
MONDO:0020470	49,XYYYY syndrome
MONDO:0020472	Turner syndrome due to structural X chromosome anomalies
MONDO:0020475	dermotrichic syndrome
MONDO:0020479	pituitary gigantism
MONDO:0020481	myotonia fluctuans
MONDO:0020482	myotonia permanens
MONDO:0020483	acetazolamide-responsive myotonia
MONDO:0020487	Pontiac fever
MONDO:0020488	atypical progressive supranuclear palsy syndrome
MONDO:0020490	mosaic trisomy 9
MONDO:0020492	hemimegalencephaly
MONDO:0020493	Haddad syndrome
MONDO:0020495	peho-like syndrome
MONDO:0020497	Turcot syndrome with polyposis
MONDO:0020499	Nipah virus disease
MONDO:0020500	Marburg hemorrhagic fever
MONDO:0020501	Crimean-Congo hemorrhagic fever
MONDO:0020502	yellow fever
MONDO:0020503	resistance to thyrotropin-releasing hormone syndrome
MONDO:0020505	ravine syndrome
MONDO:0020509	secondary syringomyelia
MONDO:0020523	familial parathyroid adenoma
MONDO:0020524	primary parathyroid hyperplasia
MONDO:0020525	transient neonatal diabetes mellitus
MONDO:0020527	ectopic Cushing syndrome
MONDO:0020547	chronic graft versus host disease
MONDO:0020549	invasive hydatidiform mole
MONDO:0020550	gestational choriocarcinoma
MONDO:0020552	placental site trophoblastic tumor
MONDO:0020558	autosomal dominant Charcot-Marie-Tooth disease type 2K
MONDO:0020559	O'Sullivan-McLeod syndrome
MONDO:0020560	Atypical teratoid/rhabdoid tumor
MONDO:0020561	myxoid/round cell liposarcoma
MONDO:0020562	pleomorphic liposarcoma
MONDO:0020586	factor V deficiency
MONDO:0020602	Simpson-Golabi-Behmel syndrome type 1
MONDO:0020603	X-linked chondrodysplasia punctata 2
MONDO:0020607	Liddle syndrome 1
MONDO:0020628	microcephaly, growth restriction, and increased sister chromatid exchange 2
MONDO:0020630	epileptic encephalopathy, infantile or early childhood, 1
MONDO:0020631	epileptic encephalopathy, infantile or early childhood, 2
MONDO:0020632	epileptic encephalopathy, infantile or early childhood, 3
MONDO:0020640	autoimmune encephalitis
MONDO:0020647	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
MONDO:0020667	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MONDO:0020681	Ehlers-Danlos syndrome, musculocontractural type 1
MONDO:0020682	Ehlers-Danlos syndrome, progeroid type 1
MONDO:0020684	Ehlers-Danlos syndrome, periodontal type 1
MONDO:0020692	spondylocostal dysostosis 1, autosomal recessive
MONDO:0020693	glycogen storage disease due to liver phosphorylase kinase deficiency
MONDO:0020701	brachydactyly type A1A
MONDO:0020712	46,XY sex reversal 1
MONDO:0020713	pulmonary venoocclusive disease 1
MONDO:0020714	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
MONDO:0020716	familial thyroid dyshormonogenesis 1
MONDO:0020717	autosomal dominant woolly hair
MONDO:0020718	congenital short bowel syndrome 1
MONDO:0020721	X-linked sideroblastic anemia 1
MONDO:0020723	vitamin D-dependent rickets, type 1A
MONDO:0020724	cerebral cavernous malformation 1
MONDO:0020726	tubulointerstitial kidney disease, autosomal dominant, 2
MONDO:0020727	combined oxidative phosphorylation deficiency 22
MONDO:0020728	hypouricemia, renal 1
MONDO:0020729	autosomal recessive agammaglobulinemia 1
MONDO:0020730	carpal tunnel syndrome 1
MONDO:0020733	proximal symphalangism 1A
MONDO:0020735	ACTH-independent macronodular adrenal hyperplasia 1
MONDO:0020736	uncombable hair syndrome 1
MONDO:0020737	optic atrophy 10 with or without ataxia, intellectual disability, and seizures
MONDO:0020738	multiple benign circumferential skin creases on limbs 1
MONDO:0020739	autosomal recessive infantile hypercalcemia 1
MONDO:0020740	ectodermal dysplasia and immunodeficiency 1
MONDO:0020741	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
MONDO:0020745	autosomal dominant cardiac arrhythmia (Kuhn)
MONDO:0020746	contractures, pterygia, and variable skeletal fusions syndrome 1B
MONDO:0020747	sitosterolemia 1
MONDO:0020748	sitosterolemia 2
MONDO:0020749	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
MONDO:0020750	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
MONDO:0020751	orthostatic hypotension 2
MONDO:0020752	EJM1
MONDO:0020754	visceral myopathy
MONDO:0020756	migraine, familial hemiplegic, 1
MONDO:0020759	epilepsy, childhood absence, susceptibility to, 1
MONDO:0020762	diencephalic-mesencephalic junction dysplasia syndrome 2
MONDO:0020763	Menke-Hennekam syndrome 1
MONDO:0020765	neuropathy, congenital hypomyelinating, 2
MONDO:0020766	neuropathy, congenital hypomyelinating, 3
MONDO:0020769	Menke-Hennekam syndrome 2
MONDO:0020770	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
MONDO:0020772	epilepsy, juvenile absence, susceptibility to, 1
MONDO:0020775	congenital disorder of glycosylation with defective fucosylation 1
MONDO:0020777	congenital disorder of glycosylation with defective fucosylation 2
MONDO:0020778	cone-rod dystrophy and hearing loss 1
MONDO:0020780	cone-rod dystrophy and hearing loss 2
MONDO:0020781	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MONDO:0020783	capillary malformation-arteriovenous malformation 1
MONDO:0020785	capillary malformation-arteriovenous malformation 2
MONDO:0020787	hypomagnesemia, seizures, and intellectual disability 1
MONDO:0020788	hypomagnesemia, seizures, and intellectual disability 2
MONDO:0020789	pseudo-TORCH syndrome 1
MONDO:0020790	gaze palsy, familial horizontal, with progressive scoliosis 1
MONDO:0020791	corneal dystrophy, Meesmann, 1
MONDO:0020792	dwarfism with tall vertebrae
MONDO:0020793	oculopharyngodistal myopathy 1
MONDO:0020795	Silver-Russell syndrome 5
MONDO:0020796	Silver-Russell syndrome 1
MONDO:0020798	hypoparathyroidism, familial isolated, 2
MONDO:0020820	distal arthrogryposis type 2B1
MONDO:0020835	methemoglobinemia, alpha type
MONDO:0020837	oocyte maturation defect 5
MONDO:0020840	pulmonary alveolar proteinosis with hypogammaglobulinemia
MONDO:0020841	neurodevelopmental disorder with cerebellar atrophy and with or without seizures
MONDO:0020845	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
MONDO:0020846	intellectual disability, autosomal recessive 64
MONDO:0020847	intellectual disability, autosomal dominant 58
MONDO:0020848	osteopetrosis, autosomal dominant 3
MONDO:0020849	immunodeficiency 57
MONDO:0020850	intellectual disability, autosomal recessive 65
MONDO:0020851	spermatogenic failure 30
MONDO:0020852	spermatogenic failure 31
MONDO:0020853	encephalitis/encephalopathy, mild, with reversible myelin vacuolization
MONDO:0020854	Liddle syndrome 2
MONDO:0020855	spermatogenic failure 32
MONDO:0020856	bone marrow failure syndrome 4
MONDO:0020857	ovarian dysgenesis 7
MONDO:0020858	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
MONDO:0021001	hemochromatosis type 1
MONDO:0021011	hereditary progressive chorea without dementia
MONDO:0021013	trichothiodystrophy 4, nonphotosensitive
MONDO:0021018	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
MONDO:0021019	X-linked recessive ocular albinism
MONDO:0021020	Crigler-Najjar syndrome type 1
MONDO:0021021	craniodiaphyseal dysplasia, autosomal dominant
MONDO:0021022	hereditary hyperekplexia
MONDO:0021023	complete androgen insensitivity syndrome
MONDO:0021025	cirrhosis, familial, with antigenemia
MONDO:0021035	alopecia-intellectual disability syndrome 1
MONDO:0021055	classic familial adenomatous polyposis
MONDO:0021056	familial adenomatous polyposis 1
MONDO:0021083	congenital fibrosis of extraocular muscles type 1
MONDO:0021093	cranioectodermal dysplasia 1
MONDO:0021105	NAFLD1
MONDO:0021421	carcinoid tumors, intestina
MONDO:0021547	amelogenesis imperfecta type 3B
MONDO:0021569	Emery-Dreifuss muscular dystrophy 2, autosomal dominant
MONDO:0021573	oocyte maturation defect 2
MONDO:0021574	oocyte maturation defect 3
MONDO:0021575	oocyte maturation defect 4
MONDO:0021950	autoimmune oophoritis
MONDO:0022113	central centrifugal cicatricial alopecia
MONDO:0022518	autoimmune inner ear disease
MONDO:0022519	autoimmune myocarditis
MONDO:0022993	dipsogenic diabetes insipidus
MONDO:0023122	familial prostate carcinoma
MONDO:0023171	foix chavany Marie syndrome
MONDO:0023201	Fryns Smeets Thiry syndrome
MONDO:0023275	Graham-Boyle-Troxell syndrome
MONDO:0023655	immunodeficiency 14b, autosomal recessive
MONDO:0023657	intellectual developmental disorder, autosomal dominant 65
MONDO:0023659	developmental and epileptic encephalopathy 96
MONDO:0023660	angioedema, hereditary, 6
MONDO:0023662	lymphatic malformation 10
MONDO:0023664	spermatogenic failure 54
MONDO:0024252	global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
MONDO:0024264	hypothyroidism, congenital, nongoitrous, 2
MONDO:0024265	Duane syndrome type 1
MONDO:0024266	patent ductus arteriosus 3
MONDO:0024309	neuropathy, hereditary sensory and autonomic, type 2A
MONDO:0024455	autosomal dominant Robinow syndrome 1
MONDO:0024456	anterior segment dysgenesis 3
MONDO:0024457	neurodegeneration with brain iron accumulation 2A
MONDO:0024463	ovarian dysgenesis 1
MONDO:0024464	pituitary hormone deficiency, combined, 1
MONDO:0024465	surfactant metabolism dysfunction, pulmonary, 2
MONDO:0024466	facial paresis, hereditary congenital, 1
MONDO:0024472	boutonneuse fever
MONDO:0024506	Adams-Oliver syndrome 1
MONDO:0024507	aniridia 1
MONDO:0024508	epilepsy, hot water, 1
MONDO:0024517	schwannomatosis 1
MONDO:0024519	renal hypodysplasia/aplasia 1
MONDO:0024520	renal hypodysplasia/aplasia 3
MONDO:0024521	aortic aneurysm, familial abdominal, 1
MONDO:0024522	amyloidosis, primary localized cutaneous, 1
MONDO:0024523	aortic valve disease 1
MONDO:0024524	dyschromatosis universalis hereditaria 1
MONDO:0024525	Fanconi renotubular syndrome 1
MONDO:0024526	Zimmermann-Laband syndrome 1
MONDO:0024527	glomerulopathy with fibronectin deposits 1
MONDO:0024528	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
MONDO:0024529	MVP1
MONDO:0024530	Bethlem myopathy 1
MONDO:0024531	myopathy, tubular aggregate, 1
MONDO:0024532	otofaciocervical syndrome 1
MONDO:0024533	pulmonary hypertension, primary, 1
MONDO:0024534	Dowling-Degos disease 1
MONDO:0024535	Singleton-Merten syndrome 1
MONDO:0024536	glucocorticoid deficiency 1
MONDO:0024537	Brown-Vialetto-van Laere syndrome 1
MONDO:0024538	basal ganglia calcification, idiopathic, 1
MONDO:0024539	choroidal dystrophy, central areolar, 1
MONDO:0024540	Jervell and Lange-Nielsen syndrome 1
MONDO:0024541	trichohepatoenteric syndrome 1
MONDO:0024542	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
MONDO:0024543	brittle cornea syndrome 1
MONDO:0024545	Miyoshi muscular dystrophy 1
MONDO:0024546	hypertrophic osteoarthropathy, primary, autosomal recessive, 1
MONDO:0024547	pancreatic agenesis 1
MONDO:0024548	peeling skin syndrome 1
MONDO:0024550	frontometaphyseal dysplasia 1
MONDO:0024551	X-linked lymphoproliferative disease due to SH2D1A deficiency
MONDO:0024552	linear skin defects with multiple congenital anomalies 1
MONDO:0024553	myopathy, lactic acidosis, and sideroblastic anemia 1
MONDO:0024554	D-2-hydroxyglutaric aciduria 1
MONDO:0024555	megalencephalic leukoencephalopathy with subcortical cysts 1
MONDO:0024556	epilepsy, familial focal, with variable foci 1
MONDO:0024557	ataxia-telangiectasia-like disorder 1
MONDO:0024558	radioulnar synostosis with amegakaryocytic thrombocytopenia 1
MONDO:0024560	PDA1
MONDO:0024561	vitelliform macular dystrophy 3
MONDO:0024562	sick sinus syndrome 1
MONDO:0024563	herpes simplex encephalitis, susceptibility to, 1
MONDO:0024564	cerebroretinal microangiopathy with calcifications and cysts 1
MONDO:0024565	ectodermal dysplasia-syndactyly syndrome 1
MONDO:0024566	febrile seizures, familial, 11
MONDO:0024567	hypotonia, infantile, with psychomotor retardation and characteristic facies 1
MONDO:0024568	infantile liver failure syndrome 1
MONDO:0024569	optic atrophy 8
MONDO:0024570	hyperparathyroidism 4
MONDO:0024572	immunodeficiency-related disorder
MONDO:0024607	congenital muscular dystrophy with cataracts and intellectual disability
MONDO:0025193	oculopharyngodistal myopathy
MONDO:0025351	multiple congenital anomalies-neurodevelopmental syndrome, x-linked
MONDO:0025353	developmental and epileptic encephalopathy, 90
MONDO:0025354	spermatogenic failure, X-linked, 3
MONDO:0025356	azoospermia, obstructive, with nephrolithiasis
MONDO:0025513	autoimmune urticaria
MONDO:0025514	livedoid vasculopathy
MONDO:0025622	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MONDO:0025667	limbal stem cell deficiency
MONDO:0025690	microcephaly, epilepsy, and diabetes syndrome 2
MONDO:0025691	dystonia 30
MONDO:0025699	Coffin-Siris syndrome 12
MONDO:0025701	leukodystrophy, hypomyelinating, 22
MONDO:0025708	megacystis-microcolon-intestinal hypoperistalsis syndrome 2
MONDO:0025712	angioedema, hereditary, 4
MONDO:0025713	angioedema, hereditary, 7
MONDO:0026720	mitochondrial complex 1 deficiency, nuclear type 12
MONDO:0026721	mitochondrial complex 1 deficiency, nuclear type 30
MONDO:0026722	Mullegama-Klein-Martinez syndrome
MONDO:0026723	intellectual developmental disorder, X-linked 108
MONDO:0026724	Paganini-Miozzo syndrome
MONDO:0026726	nephrotic syndrome, type 20
MONDO:0026727	Shukla-Vernon syndrome
MONDO:0026729	congenital disorder of glycosylation, type ICC
MONDO:0026730	Basilicata-Akhtar syndrome
MONDO:0026731	hypothyroidism, congenital, nongoitrous, 8
MONDO:0026732	hypothyroidism, congenital, nongoitrous, 9
MONDO:0026733	intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
MONDO:0026762	Wieacker-Wolff syndrome, female-restricted
MONDO:0026763	holoprosencephaly 13, X-linked
MONDO:0026765	congenital disorder of glycosylation, type IIr
MONDO:0026767	immunodeficiency 74, COVID-19-related, X-linked
MONDO:0026771	developmental and epileptic encephalopathy, 85, with or without midline brain defects
MONDO:0026777	VEXAS syndrome
MONDO:0026782	chondrodysplasia punctata 2, X-linked dominant
MONDO:0027048	deafness, Y-linked 2
MONDO:0027407	Kleefstra syndrome 1
MONDO:0027451	autosomal recessive cutis laxa type 2D
MONDO:0027462	autosomal recessive cutis laxa type 2C
MONDO:0027676	congenital anomalies of kidney and urinary tract 2
MONDO:0027694	amyotrophic lateral sclerosis type 23
MONDO:0029130	polydactyly, postaxial, type A8
MONDO:0029131	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
MONDO:0029132	Liddle syndrome 3
MONDO:0029133	muscular dystrophy, limb-girdle, autosomal dominant 4
MONDO:0029134	severe combined immunodeficiency due to CARMIL2 deficiency
MONDO:0029135	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
MONDO:0029136	muscular dystrophy, limb-girdle, autosomal recessive 23
MONDO:0029137	deafness, autosomal dominant 74
MONDO:0029138	developmental and epileptic encephalopathy, 67
MONDO:0029140	glycosylphosphatidylinositol biosynthesis defect 18
MONDO:0029141	Usher syndrome, type 4
MONDO:0029142	deafness, autosomal recessive 111
MONDO:0029143	intellectual developmental disorder with hypertelorism and distinctive facies
MONDO:0029144	extraoral halitosis due to methanethiol oxidase deficiency
MONDO:0029147	spermatogenic failure 33
MONDO:0029148	spermatogenic failure 34
MONDO:0030005	epilepsy, early-onset, with or without developmental delay
MONDO:0030006	combined oxidative phosphorylation deficiency 40
MONDO:0030007	combined oxidative phosphorylation deficiency 41
MONDO:0030008	combined oxidative phosphorylation deficiency 42
MONDO:0030009	alopecia-intellectual disability syndrome 4
MONDO:0030010	hypogonadotropic hypogonadism 25 with anosmia
MONDO:0030012	Diets-Jongmans syndrome
MONDO:0030013	immunodeficiency 66
MONDO:0030014	muscular dystrophy, limb-girdle, autosomal recessive 26
MONDO:0030015	bone marrow failure syndrome 6
MONDO:0030017	combined oxidative phosphorylation deficiency 43
MONDO:0030018	autoinflammation with episodic fever and lymphadenopathy
MONDO:0030019	anauxetic dysplasia 3
MONDO:0030020	combined oxidative phosphorylation deficiency 44
MONDO:0030024	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
MONDO:0030025	neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MONDO:0030026	retinal dystrophy with leukodystrophy
MONDO:0030027	tremor, hereditary essential, 6
MONDO:0030028	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
MONDO:0030029	skeletal dysplasia, mild, with joint laxity and advanced bone age
MONDO:0030030	Nizon-Isidor syndrome
MONDO:0030031	lissencephaly 10
MONDO:0030033	seizures, early-onset, with neurodegeneration and brain calcifications
MONDO:0030034	epilepsy, progressive myoclonic, 11
MONDO:0030035	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
MONDO:0030037	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
MONDO:0030038	glaucoma, primary closed-angle
MONDO:0030042	proteinuria, chronic benign
MONDO:0030043	congenital disorder of glycosylation, type iit
MONDO:0030044	pseudo-TORCH syndrome 3
MONDO:0030045	Liberfarb syndrome
MONDO:0030046	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
MONDO:0030047	microcephaly, developmental delay, and brittle hair syndrome
MONDO:0030048	harderoporphyria
MONDO:0030049	46,xx sex reversal 5
MONDO:0030051	intellectual developmental disorder with autistic features and language delay, with or without seizures
MONDO:0030054	developmental and epileptic encephalopathy, 86
MONDO:0030055	sorbitol dehydrogenase deficiency with peripheral neuropathy
MONDO:0030056	Fanconi renotubular syndrome 5
MONDO:0030057	neurodevelopmental, jaw, eye, and digital syndrome
MONDO:0030058	deafness, autosomal dominant 77
MONDO:0030059	developmental and epileptic encephalopathy, 87
MONDO:0030060	neurodevelopmental disorder with language impairment and behavioral abnormalities
MONDO:0030061	periventricular nodular heterotopia 9
MONDO:0030062	arrhythmogenic right ventricular dysplasia, familial, 14
MONDO:0030063	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MONDO:0030064	episodic ataxia, type 9
MONDO:0030065	agenesis of corpus callosum, cardiac, ocular, and genital syndrome
MONDO:0030066	granulomatous disease, chronic, autosomal recessive, 5
MONDO:0030067	treacher collins syndrome 4
MONDO:0030069	hyper-IgE recurrent infection syndrome 5, autosomal recessive
MONDO:0030070	heterotaxy, visceral, 9, autosomal, with male infertility
MONDO:0030071	retinitis pigmentosa 89
MONDO:0030072	developmental and epileptic encephalopathy, 88
MONDO:0030073	Mitchell syndrome
MONDO:0030074	spondylometaphyseal dysplasia with corneal dystrophy
MONDO:0030077	vertebral, cardiac, renal, and limb defects syndrome 3
MONDO:0030087	diabetes mellitus, permanent neonatal 2
MONDO:0030088	diabetes mellitus, permanent neonatal 3
MONDO:0030089	diabetes mellitus, permanent neonatal 4
MONDO:0030105	galactosemia 4
MONDO:0030116	silver-russell syndrome 2
MONDO:0030118	silver-russell syndrome 4
MONDO:0030134	oculopharyngodistal myopathy 2
MONDO:0030700	autoimmune glomerulonephritis
MONDO:0030701	autoimmune cardiomyopathy
MONDO:0030702	autoimmune atherosclerosis
MONDO:0030703	autoimmune vasculitis
MONDO:0030801	monosomy 7 myelodysplasia and leukemia syndrome 2
MONDO:0030835	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
MONDO:0030837	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
MONDO:0030840	mismatch repair cancer syndrome 2
MONDO:0030841	mismatch repair cancer syndrome 3
MONDO:0030843	mismatch repair cancer syndrome 4
MONDO:0030844	spermatogenic failure 47
MONDO:0030846	spermatogenic failure 48
MONDO:0030847	arthrogryposis, distal, type 1C
MONDO:0030849	intellectual developmental disorder with speech delay and axonal peripheral neuropathy
MONDO:0030852	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
MONDO:0030854	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
MONDO:0030855	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
MONDO:0030856	developmental and epileptic encephalopathy 89
MONDO:0030858	immunodeficiency 75
MONDO:0030859	COACH syndrome 2
MONDO:0030861	osteogenesis imperfecta, type 21
MONDO:0030862	COACH syndrome 3
MONDO:0030864	Ritscher-Schinzel syndrome 3
MONDO:0030866	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
MONDO:0030867	thrombocytopenia 7
MONDO:0030868	spermatogenic failure 49
MONDO:0030869	spermatogenic failures 50
MONDO:0030870	premature ovarian failure 17
MONDO:0030871	vertebral hypersegmentation and orofacial anomalies
MONDO:0030872	frontotemporal dementia and/or amyotrophic lateral sclerosis 8
MONDO:0030873	cardiofacioneurodevelopmental syndrome
MONDO:0030875	frontotemporal dementia and/or amyotrophic lateral sclerosis 5
MONDO:0030876	cardioacrofacial dysplasia 1
MONDO:0030877	cardioacrofacial dysplasia 2
MONDO:0030878	Kaya-Barakat-Masson syndrome
MONDO:0030880	mandibuloacral dysplasia progeroid syndrome
MONDO:0030883	carpal tunnel syndrome 2
MONDO:0030885	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
MONDO:0030893	leukoencephalopathy, progressive, infantile-onset, with or without deafness
MONDO:0030894	AMED syndrome, digenic
MONDO:0030895	nephrotic syndrome, type 22
MONDO:0030896	chromosome 13q33-q34 deletion syndrome
MONDO:0030897	Lessel-Kreienkamp syndrome
MONDO:0030898	immunodeficiency 76
MONDO:0030899	oculocutaneous albinism type 8
MONDO:0030900	intellectual developmental disorder with paroxysmal dyskinesia or seizures
MONDO:0030902	mitochondrial complex 1 deficiency, nuclear type 36
MONDO:0030903	Hermansky-Pudlak syndrome 11
MONDO:0030905	deafness, autosomal recessive 117
MONDO:0030907	intellectual disability, X-linked 106
MONDO:0030908	intellectual disability, X-linked, syndromic, 35
MONDO:0030909	intellectual disability, X-linked, syndromic, Houge type
MONDO:0030910	intellectual disability, autosomal dominant 45
MONDO:0030911	intellectual disability, autosomal dominant 46
MONDO:0030912	intellectual disability, autosomal dominant 47
MONDO:0030913	intellectual disability, autosomal dominant 48
MONDO:0030914	Clark-Baraitser syndrome
MONDO:0030915	intellectual disability, autosomal recessive 61
MONDO:0030916	intellectual disability, autosomal dominant 50
MONDO:0030917	intellectual disability, autosomal dominant 51
MONDO:0030918	intellectual disability, autosomal dominant 52
MONDO:0030919	intellectual disability, autosomal dominant 53
MONDO:0030920	intellectual disability, autosomal dominant 54
MONDO:0030921	intellectual disability, autosomal dominant 55, with seizures
MONDO:0030922	intellectual disability, autosomal dominant 56
MONDO:0030924	proteasome-associated autoinflammatory syndrome 5
MONDO:0030925	oocyte maturation defect 10
MONDO:0030926	spermatogenic failure 51
MONDO:0030927	myofibrillar myopathy 11
MONDO:0030928	microcephaly 26, primary, autosomal dominant
MONDO:0030929	microcephaly 27, primary, autosomal dominant
MONDO:0030930	neurodevelopmental disorder with or without early-onset generalized epilepsy
MONDO:0030931	proteasome-associated autoinflammatory syndrome 4
MONDO:0030934	intellectual developmental disorder, autosomal dominant 64
MONDO:0030935	mitochondrial complex 2 deficiency, nuclear type 2
MONDO:0030936	epilepsy, progressive myoclonic, 12
MONDO:0030937	mitochondrial complex 2 deficiency, nuclear type 3
MONDO:0030938	spermatogenic failure 52
MONDO:0030939	premature ovarian failure 18
MONDO:0030941	erythrokeratodermia variabilis et progressiva 7
MONDO:0030947	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
MONDO:0030953	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
MONDO:0030961	Olmsted syndrome 2
MONDO:0030962	nephrotic syndrome, type 23
MONDO:0030963	Li-Campeau syndrome
MONDO:0030966	neurofacioskeletal syndrome with or without renal agenesis
MONDO:0030967	deafness, congenital, and adult-onset progressive leukoencephalopathy
MONDO:0030971	immunodeficiency 78 with autoimmunity and developmental delay
MONDO:0030973	immunodeficiency 77
MONDO:0030974	mitochondrial complex 2 deficiency, nuclear type 4
MONDO:0030976	oculomotor-abducens synkinesis
MONDO:0030977	neuropathy, hereditary motor, with myopathic features
MONDO:0030978	endove syndrome, limb-only type
MONDO:0030979	endove syndrome, limb-brain type
MONDO:0030981	immunodeficiency 79
MONDO:0030982	sulfide quinone oxidoreductase deficiency
MONDO:0030985	premature ovarian failure 19
MONDO:0030986	blistering, acantholytic, of oral and laryngeal mucosa
MONDO:0030987	vertebral, cardiac, tracheoesophageal, renal, and limb defects
MONDO:0030988	developmental delay with dysmorphic facies and dental anomalies
MONDO:0030989	spermatogenic failure 53
MONDO:0030990	Kohlschutter-Tonz syndrome-like
MONDO:0030991	bile acid conjugation defect 1
MONDO:0030992	short stature, oligodontia, dysmorphic facies, and motor delay
MONDO:0030994	neurodevelopmental disorder with or without autism or seizures
MONDO:0030995	global developmental delay with speech and behavioral abnormalities
MONDO:0030996	bleeding disorder, platelet-type, 24
MONDO:0030997	mitochondrial complex 1 deficiency, nuclear type 37
MONDO:0030998	deafness, autosomal dominant 80
MONDO:0031001	vitreoretinopathy with phalangeal epiphyseal dysplasia
MONDO:0031002	Baralle-Macken syndrome
MONDO:0031003	hypercholanemia, familial, 2
MONDO:0031006	neurodegeneration with ataxia and late-onset optic atrophy
MONDO:0031007	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MONDO:0031008	nephrotic syndrome, type 24
MONDO:0031009	Glanzmann thrombasthenia 2
MONDO:0031010	odontochondrodysplasia 2 with hearing loss and diabetes
MONDO:0031011	neurodevelopmental disorder with dysmorphic facies and variable seizures
MONDO:0031012	autoimmune uveitis
MONDO:0031013	autoimmune optic neuritis
MONDO:0031014	autoimmune gastritis
MONDO:0031037	famililal cerebral cavernous malformations
MONDO:0031332	Glanzmann thrombasthenia 1
MONDO:0031446	hypercholanemia, familial 1
MONDO:0031481	microcephaly, epilepsy, and diabetes syndrome 1
MONDO:0032485	intellectual developmental disorder 61
MONDO:0032526	spinocerebellar ataxia 48
MONDO:0032564	hennekam lymphangiectasia-lymphedema syndrome 3
MONDO:0032565	ophthalmoplegia, external, with rib and vertebral anomalies
MONDO:0032566	squalene synthase deficiency
MONDO:0032567	isolated growth hormone deficiency, type 4
MONDO:0032568	intellectual developmental disorder with macrocephaly, seizures, and speech delay
MONDO:0032569	isolated growth hormone deficiency, type 5
MONDO:0032570	Joubert syndrome 35
MONDO:0032571	spondyloepimetaphyseal dysplasia, Krakow type
MONDO:0032572	cardiac, facial, and digital anomalies with developmental delay
MONDO:0032573	bone marrow failure syndrome 5
MONDO:0032574	osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MONDO:0032575	diarrhea 9
MONDO:0032577	retinitis pigmentosa 83
MONDO:0032578	cortical dysplasia, complex, with other brain malformations 9
MONDO:0032579	warburg-cinotti syndrome
MONDO:0032580	nephrotic syndrome, type 17
MONDO:0032581	nephrotic syndrome, type 18
MONDO:0032582	nephrotic syndrome, type 19
MONDO:0032583	microcephaly 24, primary, autosomal recessive
MONDO:0032584	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
MONDO:0032586	diarrhea 10, protein-losing enteropathy type
MONDO:0032588	periventricular nodular heterotopia 8
MONDO:0032590	ovarian dysgenesis 8
MONDO:0032591	hyperparathyroidism, transient neonatal
MONDO:0032592	cardiomyopathy, dilated, 2c
MONDO:0032594	intellectual developmental disorder and retinitis pigmentosa; IDDRP
MONDO:0032596	myasthenic syndrome, congenital, 23, presynaptic
MONDO:0032597	myasthenic syndrome, congenital, 24, presynaptic
MONDO:0032598	developmental and epileptic encephalopathy, 68
MONDO:0032599	immunodeficiency 15a
MONDO:0032600	snijders blok-campeau syndrome
MONDO:0032601	inflammatory bowel disease, immunodeficiency, and encephalopathy
MONDO:0032603	polydactyly, postaxial, type A9
MONDO:0032604	retinitis pigmentosa 84
MONDO:0032605	intellectual disability, autosomal recessive 66
MONDO:0032606	mitochondrial complex 1 deficiency, nuclear type 2
MONDO:0032607	vertebral anomalies and variable endocrine and T-cell dysfunction
MONDO:0032608	mitochondrial complex 1 deficiency, nuclear type 3
MONDO:0032609	mitochondrial complex 1 deficiency, nuclear type 4
MONDO:0032610	mitochondrial complex 1 deficiency, nuclear type 5
MONDO:0032611	mitochondrial complex 1 deficiency, nuclear type 6
MONDO:0032612	mitochondrial complex 1 deficiency, nuclear type 7
MONDO:0032613	mitochondrial complex 1 deficiency, nuclear type 8
MONDO:0032614	epidermodysplasia verruciformis, susceptibility to, 2
MONDO:0032615	mitochondrial complex 1 deficiency, nuclear type 9
MONDO:0032616	mitochondrial complex 1 deficiency, nuclear type 10
MONDO:0032617	mitochondrial complex 1 deficiency, nuclear type 11
MONDO:0032618	mitochondrial complex 1 deficiency, nuclear type 13
MONDO:0032619	mitochondrial complex 1 deficiency, nuclear type 14
MONDO:0032620	mitochondrial complex 1 deficiency, nuclear type 15
MONDO:0032621	mitochondrial complex 1 deficiency, nuclear type 16
MONDO:0032622	mitochondrial complex 1 deficiency, nuclear type 17
MONDO:0032623	mitochondrial complex 1 deficiency, nuclear type 18
MONDO:0032624	mitochondrial complex 1 deficiency, nuclear type 19
MONDO:0032625	mitochondrial complex 1 deficiency, nuclear type 21
MONDO:0032626	mitochondrial complex 1 deficiency, nuclear type 22
MONDO:0032627	mitochondrial complex 1 deficiency, nuclear type 23
MONDO:0032628	mitochondrial complex 1 deficiency, nuclear type 24
MONDO:0032629	mitochondrial complex 1 deficiency, nuclear type 25
MONDO:0032630	mitochondrial complex 1 deficiency, nuclear type 26
MONDO:0032631	mitochondrial complex 1 deficiency, nuclear type 27
MONDO:0032632	mitochondrial complex 1 deficiency, nuclear type 28
MONDO:0032633	mitochondrial complex 1 deficiency, nuclear type 29
MONDO:0032634	mitochondrial complex 1 deficiency, nuclear type 31
MONDO:0032635	mitochondrial complex 1 deficiency, nuclear type 32
MONDO:0032636	mitochondrial complex 1 deficiency, nuclear type 33
MONDO:0032637	ciliary dyskinesia, primary, 39
MONDO:0032639	deafness, autosomal recessive 112
MONDO:0032641	mirror movements 4
MONDO:0032642	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
MONDO:0032643	pontocerebellar hypoplasia, type 12
MONDO:0032644	epidermodysplasia verruciformis, susceptibility to, 3
MONDO:0032645	trichohepatoneurodevelopmental syndrome
MONDO:0032646	congenital anomalies of kidney and urinary tract 3
MONDO:0032647	global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0032648	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
MONDO:0032649	hypotrichosis 14
MONDO:0032650	neurodegeneration, childhood-onset, with cerebellar atrophy
MONDO:0032651	fibrosis, neurodegeneration, and cerebral angiomatosis
MONDO:0032653	cardiac-urogenital syndrome
MONDO:0032654	hyper-IgE recurrent infection syndrome 3, autosomal recessive
MONDO:0032655	visual impairment and progressive phthisis bulbi
MONDO:0032656	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
MONDO:0032657	developmental and epileptic encephalopathy, 69
MONDO:0032658	macrocephaly, acquired, with impaired intellectual development
MONDO:0032659	mucocutaneous ulceration, chronic
MONDO:0032660	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
MONDO:0032661	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
MONDO:0032662	intellectual developmental disorder, autosomal recessive 67
MONDO:0032663	developmental and epileptic encephalopathy, 70
MONDO:0032664	ciliary dyskinesia, primary, 40
MONDO:0032665	intellectual developmental disorder, autosomal recessive 68
MONDO:0032666	epidermodysplasia verruciformis, susceptibility to, 4
MONDO:0032667	epidermodysplasia verruciformis, susceptibility to, 5
MONDO:0032668	Diamond-Blackfan anemia 18
MONDO:0032669	Diamond-Blackfan anemia 19
MONDO:0032670	Diamond-Blackfan anemia 20
MONDO:0032672	intellectual developmental disorder with cardiac defects and dysmorphic facies
MONDO:0032673	basal ganglia calcification, idiopathic, 7, autosomal recessive
MONDO:0032675	myasthenic syndrome, congenital, 25, presynaptic
MONDO:0032677	lissencephaly 9 with complex brainstem malformation
MONDO:0032678	developmental and epileptic encephalopathy, 71
MONDO:0032679	combined oxidative phosphorylation deficiency 37
MONDO:0032680	global developmental delay with or without impaired intellectual development
MONDO:0032681	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
MONDO:0032684	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
MONDO:0032685	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
MONDO:0032686	spermatogenic failure 35
MONDO:0032687	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
MONDO:0032688	polymicrogyria with or without vascular-type ehlers-danlos syndrome
MONDO:0032689	retinitis pigmentosa 85
MONDO:0032690	microcephaly, growth deficiency, seizures, and brain malformations
MONDO:0032691	Galloway-Mowat syndrome 6
MONDO:0032692	Galloway-Mowat syndrome 7
MONDO:0032693	Galloway-Mowat syndrome 8
MONDO:0032694	microcephaly 25, primary, autosomal recessive
MONDO:0032696	oocyte maturation defect 6
MONDO:0032697	neurodevelopmental disorder and language delay with or without structural brain abnormalities
MONDO:0032698	neurodevelopmental disorder with central and peripheral motor dysfunction
MONDO:0032699	epilepsy, idiopathic generalized, susceptibility to, 15
MONDO:0032702	Coffin-Siris syndrome 8
MONDO:0032703	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MONDO:0032705	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
MONDO:0032706	spinocerebellar ataxia, autosomal recessive 27
MONDO:0032707	turnpenny-fry syndrome
MONDO:0032710	developmental and epileptic encephalopathy, 72
MONDO:0032712	combined oxidative phosphorylation deficiency 38
MONDO:0032714	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
MONDO:0032715	intellectual developmental disorder, autosomal recessive 69
MONDO:0032716	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
MONDO:0032717	amelogenesis imperfecta, type 3c
MONDO:0032721	spondyloepiphyseal dysplasia, kondo-fu type
MONDO:0032723	immunodeficiency 60
MONDO:0032724	spondyloepimetaphyseal dysplasia with joint laxity, type 3
MONDO:0032725	developmental and epileptic encephalopathy, 74
MONDO:0032726	combined oxidative phosphorylation deficiency 39
MONDO:0032728	Charcot-Marie-Tooth disease, axonal, type 2EE
MONDO:0032729	intellectual developmental disorder, autosomal recessive 70
MONDO:0032730	leukodystrophy, hypomyelinating, 18
MONDO:0032732	deafness, autosomal recessive 113
MONDO:0032733	global developmental delay, progressive ataxia, and elevated glutamine
MONDO:0032735	cataract 48
MONDO:0032736	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
MONDO:0032737	spastic paraplegia 80, autosomal dominant
MONDO:0032738	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
MONDO:0032739	spermatogenic failure 36
MONDO:0032740	deafness, autosomal recessive 100
MONDO:0032741	neurodevelopmental disorder with impaired speech and hyperkinetic movements
MONDO:0032742	encephalopathy, acute, infection-induced, susceptibility to, 9
MONDO:0032745	developmental delay with variable intellectual impairment and behavioral abnormalities
MONDO:0032746	hydatidiform mole, recurrent, 3
MONDO:0032747	hydatidiform mole, recurrent, 4
MONDO:0032748	spermatogenic failure 38
MONDO:0032749	deafness, autosomal recessive 94
MONDO:0032750	arthrogryposis, distal, type 2B2
MONDO:0032751	arthrogryposis, distal, type 2B3
MONDO:0032752	developmental and epileptic encephalopathy, 75
MONDO:0032753	spastic ataxia 9, autosomal recessive
MONDO:0032755	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
MONDO:0032757	ciliary dyskinesia, primary, 41
MONDO:0032758	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
MONDO:0032759	intellectual developmental disorder with short stature and variable skeletal anomalies
MONDO:0032760	developmental delay with or without dysmorphic facies and autism
MONDO:0032761	deafness, autosomal recessive 114
MONDO:0032762	deafness, autosomal recessive 115
MONDO:0032763	immunodeficiency 62
MONDO:0032764	Khan-Khan-Katsanis syndrome
MONDO:0032765	bleeding disorder, platelet-type, 22
MONDO:0032767	paragangliomas 6
MONDO:0032768	developmental and epileptic encephalopathy, 76
MONDO:0032770	intellectual developmental disorder with severe speech and ambulation defects
MONDO:0032771	paragangliomas 7
MONDO:0032772	brain abnormalities, neurodegeneration, and dysosteosclerosis
MONDO:0032773	uridine-cytidineuria
MONDO:0032774	cerebellar, ocular, craniofacial, and genital syndrome
MONDO:0032775	neurodevelopmental disorder with seizures and speech and walking impairment
MONDO:0032776	deafness, autosomal recessive 99
MONDO:0032777	generalized epilepsy with febrile seizures plus, type 10
MONDO:0032778	arthrogryposis multiplex congenita 3, myogenic type
MONDO:0032779	neurodevelopmental disorder with microcephaly and structural brain anomalies
MONDO:0032780	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
MONDO:0032781	congenital hypotonia, epilepsy, developmental delay, and digital anomalies
MONDO:0032782	immunodeficiency 63 with lymphoproliferation and autoimmunity
MONDO:0032783	aortic valve disease 3
MONDO:0032784	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
MONDO:0032785	polydactyly, postaxial, type a10
MONDO:0032786	Noonan syndrome 11
MONDO:0032787	holoprosencephaly 12 with or without pancreatic agenesis
MONDO:0032788	cerebellar atrophy with seizures and variable developmental delay
MONDO:0032789	intellectual developmental disorder, autosomal recessive 71
MONDO:0032790	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
MONDO:0032791	Coffin-Siris syndrome 10
MONDO:0032792	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
MONDO:0032793	O'Donnell-Luria-Rodan syndrome
MONDO:0032794	leber congenital amaurosis 19
MONDO:0032795	intellectual developmental disorder 59
MONDO:0032796	hyper-ige recurrent infection syndrome 4, autosomal recessive
MONDO:0032797	myopathy, congenital, with tremor
MONDO:0032798	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
MONDO:0032799	mitochondrial DNA depletion syndrome 16 (hepatic type)
MONDO:0032800	robinow syndrome, autosomal recessive 2
MONDO:0032801	erythrokeratodermia variabilis et progressiva 6
MONDO:0032802	deafness, autosomal dominant 37
MONDO:0032803	immunodeficiency 64
MONDO:0032804	ectodermal dysplasia 15, hypohidrotic/hair type
MONDO:0032805	hypopigmentation, organomegaly, and delayed myelination and development
MONDO:0032806	trichothiodystrophy 7, nonphotosensitive
MONDO:0032807	neurodevelopmental disorder with visual defects and brain anomalies
MONDO:0032808	developmental and epileptic encephalopathy, 77
MONDO:0032809	hepatitis, fulminant viral, susceptibility to
MONDO:0032810	oocyte maturation defect 7
MONDO:0032811	night blindness, congenital stationary, type1i
MONDO:0032812	developmental and epileptic encephalopathy, 78
MONDO:0032813	developmental and epileptic encephalopathy, 79
MONDO:0032814	microangiopathy and leukoencephalopathy, pontine, autosomal dominant
MONDO:0032815	mitochondrial DNA depletion syndrome 17
MONDO:0032816	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
MONDO:0032817	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
MONDO:0032818	neurodevelopmental disorder with cerebellar hypoplasia and spasticity
MONDO:0032819	hypothyroidism, congenital, nongoitrous, 7
MONDO:0032820	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
MONDO:0032821	myopathy, congenital, progressive, with scoliosis
MONDO:0032822	developmental and epileptic encephalopathy, 80
MONDO:0032823	intellectual developmental disorder 60 with seizures
MONDO:0032824	glycosylphosphatidylinositol biosynthesis defect 21
MONDO:0032826	nephrotic syndrome, type 21
MONDO:0032827	epilepsy, idiopathic generalized, susceptibility to, 16
MONDO:0032828	spastic tetraplegia and axial hypotonia, progressive
MONDO:0032829	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
MONDO:0032830	snijders blok-fisher syndrome
MONDO:0032831	pontocerebellar hypoplasia, type 13
MONDO:0032832	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
MONDO:0032833	lower urinary tract obstruction, congenital
MONDO:0032834	retinitis pigmentosa 86
MONDO:0032835	spondyloepiphyseal dysplasia, nishimura type
MONDO:0032836	weiss-kruszka syndrome
MONDO:0032837	abdominal obesity-metabolic syndrome 4
MONDO:0032838	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
MONDO:0032839	noonan syndrome 12
MONDO:0032841	Usher syndrome, type 1M
MONDO:0032842	siddiqi syndrome
MONDO:0032843	oculopharyngeal myopathy with leukoencephalopathy 1
MONDO:0032844	infantile liver failure syndrome 3
MONDO:0032845	spermatogenic failure 39
MONDO:0032846	osteogenesis imperfecta, type 20
MONDO:0032848	immunodeficiency 65, susceptibility to viral infections
MONDO:0032849	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MONDO:0032850	neurooculocardiogenitourinary syndrome
MONDO:0032851	intellectual developmental disorder with impaired language and dysmorphic facies
MONDO:0032852	myopathy, congenital, with structured cores and z-line abnormalities
MONDO:0032853	myopathy, distal, 6, adult-onset, autosomal dominant
MONDO:0032854	zimmermann-laband syndrome 3
MONDO:0032855	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
MONDO:0032857	diarrhea 11, malabsorptive, congenital
MONDO:0032858	developmental and epileptic encephalopathy, 81
MONDO:0032859	spermatogenic failure 40
MONDO:0032860	intellectual developmental disorder, autosomal recessive 72
MONDO:0032862	hydrocephalus, congenital communicating, 1
MONDO:0032863	spermatogenic failure 41
MONDO:0032864	intellectual developmental disorder with speech delay, autism, and dysmorphic facies
MONDO:0032865	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
MONDO:0032866	cortical dysplasia, complex, with other brain malformations 10
MONDO:0032867	pancreatic cancer, susceptibility to, 5
MONDO:0032868	lessel-kubisch syndrome
MONDO:0032869	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
MONDO:0032870	intellectual developmental disorder with short stature and behavioral abnormalities
MONDO:0032871	leukodystrophy, hypomyelinating, 19, transient infantile
MONDO:0032872	ciliary dyskinesia, primary, 42
MONDO:0032873	retinitis pigmentosa 87 with choroidal involvement
MONDO:0032874	ciliary dyskinesia, primary, 43
MONDO:0032875	short stature and microcephaly with genital anomalies
MONDO:0032876	neurodevelopmental disorder with absent language and variable seizures
MONDO:0032877	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
MONDO:0032878	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
MONDO:0032879	megabladder, congenital
MONDO:0032880	developmental and epileptic encephalopathy, 82
MONDO:0032881	premature ovarian failure 16
MONDO:0032882	Heyn-Sproul-Jackson syndrome
MONDO:0032883	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
MONDO:0032884	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
MONDO:0032885	spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MONDO:0032886	Liang-Wang syndrome
MONDO:0032887	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
MONDO:0032888	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
MONDO:0032889	Poirier-Bienvenu neurodevelopmental syndrome
MONDO:0032890	neuromuscular disease and ocular or auditory anomalies with or without seizures
MONDO:0032891	aneurysm, intracranial berry, 12
MONDO:0032892	structural brain anomalies with impaired intellectual development and craniosynostosis
MONDO:0032893	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
MONDO:0032894	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
MONDO:0032895	developmental and epileptic encephalopathy, 83
MONDO:0032896	spermatogenic failure 42
MONDO:0032897	intellectual developmental disorder with hypotonia and behavioral abnormalities
MONDO:0032898	spermatogenic failure 43
MONDO:0032899	neutropenia, severe congenital, 8, autosomal dominant
MONDO:0032900	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
MONDO:0032901	Catifa syndrome
MONDO:0032902	Joubert syndrome 36
MONDO:0032903	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
MONDO:0032904	corneal dystrophy, Meesmann, 2
MONDO:0032905	spastic paraplegia 81, autosomal recessive
MONDO:0032906	spastic paraplegia 82, autosomal recessive
MONDO:0032907	lymphatic malformation 8
MONDO:0032908	CEBALID syndrome
MONDO:0032909	mitochondrial complex 3 deficiency, nuclear type 10
MONDO:0032910	mitochondrial complex 1 deficiency, nuclear type 34
MONDO:0032911	deafness, autosomal dominant 75
MONDO:0032912	Coffin-Siris syndrome 11
MONDO:0032913	congenital heart defects, multiple types, 7
MONDO:0032914	ciliary dyskinesia, primary, 44
MONDO:0032915	long QT syndrome 16
MONDO:0032916	Imagawa-Matsumoto syndrome
MONDO:0032917	deafness, autosomal dominant 76
MONDO:0032918	developmental and epileptic encephalopathy, 84
MONDO:0032919	intellectual developmental disorder 62
MONDO:0032920	juvenile arthritis due to defect in LACC1
MONDO:0032921	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
MONDO:0032922	Beck-Fahrner syndrome
MONDO:0032923	spinocerebellar ataxia, autosomal recessive 28
MONDO:0032924	ciliary dyskinesia, primary, 45
MONDO:0032925	respiratory papillomatosis, juvenile recurrent, congenital
MONDO:0032926	sandestig-stefanova syndrome
MONDO:0032927	triokinase and FMN cyclase deficiency syndrome
MONDO:0032928	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
MONDO:0032930	intellectual developmental disorder with poor growth and with or without seizures or ataxia
MONDO:0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
MONDO:0032932	mitochondrial DNA depletion syndrome 18
MONDO:0032933	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant
MONDO:0032934	genitourinary and/or brain malformation syndrome
MONDO:0032935	rhizomelic limb shortening with dysmorphic features
MONDO:0032936	myopathy, congenital, with respiratory insufficiency and bone fractures
MONDO:0032937	myopathy, congenital proximal, with minicore lesions
MONDO:0032938	basal ganglia calcification, idiopathic, 8, autosomal recessive
MONDO:0032939	intellectual developmental disorder, autosomal dominant 63, with macrocephaly
MONDO:0032940	retinitis pigmentosa 88
MONDO:0032941	myopia 27
MONDO:0032942	neurodevelopmental disorder with microcephaly and dysmorphic facies
MONDO:0032943	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
MONDO:0033004	polycystic kidney disease 4
MONDO:0033005	Galloway-Mowat syndrome 1
MONDO:0033006	Galloway-Mowat syndrome 2, X-linked
MONDO:0033007	Galloway-Mowat syndrome 3
MONDO:0033008	Galloway-Mowat syndrome 4
MONDO:0033009	Galloway-Mowat syndrome 5
MONDO:0033010	erythrokeratodermia variabilis et progressiva 1
MONDO:0033012	erythrokeratodermia variabilis et progressiva 2
MONDO:0033013	erythrokeratodermia variabilis et progressiva 3
MONDO:0033014	erythrokeratodermia variabilis et progressiva 4
MONDO:0033015	erythrokeratodermia variabilis et progressiva 5
MONDO:0033043	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
MONDO:0033044	Meckel syndrome 13
MONDO:0033045	orofaciodigital syndrome 16
MONDO:0033046	Meier-Gorlin syndrome 8
MONDO:0033047	Perrault syndrome 6
MONDO:0033091	ichthyosis, congenital, autosomal recessive 14
MONDO:0033092	ichthyosis, congenital, autosomal recessive 13
MONDO:0033115	spinocerebellar ataxia, autosomal recessive 25
MONDO:0033116	spinocerebellar ataxia, autosomal recessive 26
MONDO:0033123	exudative vitreoretinopathy 7
MONDO:0033135	Charcot-Marie-Tooth disease, demyelinating, type 1G
MONDO:0033187	combined oxidative phosphorylation defect type 29
MONDO:0033198	deafness, autosomal recessive 106
MONDO:0033199	deafness, autosomal recessive 107
MONDO:0033200	deafness, autosomal recessive 108
MONDO:0033201	deafness, autosomal recessive 57
MONDO:0033202	deafness, autosomal recessive 109
MONDO:0033203	nephrotic syndrome 14
MONDO:0033204	ciliary dyskinesia, primary, 37
MONDO:0033258	deafness, autosomal dominant 71
MONDO:0033259	deafness, autosomal dominant 72
MONDO:0033260	deafness, autosomal dominant 73
MONDO:0033261	deafness, autosomal dominant 34, with or without inflammation
MONDO:0033262	nephrotic syndrome 15
MONDO:0033280	nephrotic syndrome 16
MONDO:0033281	polycystic kidney disease 5
MONDO:0033282	multiple mitochondrial dysfunctions syndrome 5
MONDO:0033308	Joubert syndrome 30
MONDO:0033309	Joubert syndrome 32
MONDO:0033310	Joubert syndrome 31
MONDO:0033311	Joubert syndrome 33
MONDO:0033312	schizophrenia 19
MONDO:0033361	developmental and epileptic encephalopathy, 52
MONDO:0033362	developmental and epileptic encephalopathy, 53
MONDO:0033363	developmental and epileptic encephalopathy, 54
MONDO:0033364	developmental and epileptic encephalopathy, 55
MONDO:0033365	developmental and epileptic encephalopathy, 56
MONDO:0033366	developmental and epileptic encephalopathy, 57
MONDO:0033367	developmental and epileptic encephalopathy, 58
MONDO:0033368	developmental and epileptic encephalopathy, 59
MONDO:0033369	developmental and epileptic encephalopathy, 60
MONDO:0033370	developmental and epileptic encephalopathy, 61
MONDO:0033371	developmental and epileptic encephalopathy, 62
MONDO:0033372	developmental and epileptic encephalopathy, 63
MONDO:0033373	developmental and epileptic encephalopathy, 64
MONDO:0033374	developmental and epileptic encephalopathy, 65
MONDO:0033375	orofaciodigital syndrome 17
MONDO:0033479	spinocerebellar ataxia 44
MONDO:0033480	spinocerebellar ataxia 45
MONDO:0033481	spinocerebellar ataxia 46
MONDO:0033482	spinocerebellar ataxia 47
MONDO:0033483	erythrocytosis, familial, 5
MONDO:0033485	short-rib thoracic dysplasia 19 with or without polydactyly
MONDO:0033486	leukodystrophy, hypomyelinating, 14
MONDO:0033492	Coffin-Siris syndrome 6
MONDO:0033493	fibromatosis, gingival, 5
MONDO:0033532	Suleiman-El-Hattab syndrome
MONDO:0033533	combined oxidative phosphorylation deficiency 45
MONDO:0033534	combined oxidative phosphorylation deficiency 46
MONDO:0033537	combined oxidative phosphorylation deficiency 47
MONDO:0033541	immunodeficiency 69
MONDO:0033542	immunodeficiency 70
MONDO:0033543	cone-rod synaptic disorder syndrome, congenital nonprogressive
MONDO:0033544	Tolchin-Le Caignec syndrome
MONDO:0033545	mitochondrial DNA depletion syndrome 19
MONDO:0033546	neurodegeneration, infantile-onset, biotin-responsive
MONDO:0033547	Li-Ghorbani-Weisz-Hubshman syndrome
MONDO:0033548	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MONDO:0033549	optic atrophy 12
MONDO:0033551	immunodeficiency 72 with autoinflammation
MONDO:0033554	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
MONDO:0033555	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
MONDO:0033556	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15
MONDO:0033558	autoinflammation, immune dysregulation, and eosinophilia
MONDO:0033559	intellectual developmental disorder with seizures and language delay
MONDO:0033560	mitochondrial complex 1 deficiency, nuclear type 35
MONDO:0033561	deeah syndrome
MONDO:0033562	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
MONDO:0033563	retinitis pigmentosa 90
MONDO:0033564	oocyte maturation defect 8
MONDO:0033565	oocyte maturation defect 9
MONDO:0033569	combined oxidative phosphorylation deficiency 49
MONDO:0033570	combined oxidative phosphorylation deficiency 50
MONDO:0033613	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
MONDO:0033614	spastic paraplegia 83, autosomal recessive
MONDO:0033615	coenzyme q10 deficiency, primary, 9
MONDO:0033618	Vissers-Bodmer syndrome
MONDO:0033619	myopathy, epilepsy, and progressive cerebral atrophy
MONDO:0033620	myofibrillar myopathy 10
MONDO:0033621	spinal muscular atrophy, infantile, James type
MONDO:0033622	spermatogenic failure 44
MONDO:0033630	neurodevelopmental disorder with speech impairment and dysmorphic facies
MONDO:0033631	combined oxidative phosphorylation deficiency 51
MONDO:0033635	mitochondrial complex 4 deficiency, nuclear type 3
MONDO:0033636	mitochondrial complex 4 deficiency, nuclear type 4
MONDO:0033637	mitochondrial complex 4 deficiency, nuclear type 7
MONDO:0033638	mitochondrial complex 4 deficiency, nuclear type 8
MONDO:0033639	mitochondrial complex 4 deficiency, nuclear type 10
MONDO:0033640	vitamin D-dependent rickets, type 3
MONDO:0033641	cleft palate, proliferative retinopathy, and developmental delay
MONDO:0033642	neurodevelopmental disorder with alopecia and brain abnormalities
MONDO:0033643	inflammatory bowel disease 30
MONDO:0033644	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
MONDO:0033645	mitochondrial complex 4 deficiency, nuclear type 11
MONDO:0033646	mitochondrial complex 4 deficiency, nuclear type 12
MONDO:0033649	mitochondrial complex 4 deficiency, nuclear type 14
MONDO:0033650	mitochondrial complex 4 deficiency, nuclear type 15
MONDO:0033651	mitochondrial complex 4 deficiency, nuclear type 16
MONDO:0033652	mitochondrial complex 4 deficiency, nuclear type 17
MONDO:0033653	mitochondrial complex 4 deficiency, nuclear type 18
MONDO:0033654	mitochondrial complex 4 deficiency, nuclear type 19
MONDO:0033655	mitochondrial complex 4 deficiency, nuclear type 20
MONDO:0033656	mitochondrial complex 4 deficiency, nuclear type 21
MONDO:0033657	leukodystrophy, hypomyelinating, 20
MONDO:0033658	neurodevelopmental disorder with seizures and brain atrophy
MONDO:0033662	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
MONDO:0033664	Kilquist syndrome
MONDO:0033665	deafness, autosomal dominant 78
MONDO:0033667	Delpire-McNeill syndrome
MONDO:0033668	deafness, autosomal dominant 79
MONDO:0033669	Noonan syndrome 13
MONDO:0033670	deafness, autosomal recessive 116
MONDO:0033671	spermatogenic failure 45
MONDO:0033672	Duane anomaly-myopathy-scoliosis syndrome
MONDO:0033673	spermatogenic failure 46
MONDO:0033682	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
MONDO:0033683	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MONDO:0033717	congenital cerebellar ataxia due to RNU12 mutation
MONDO:0033850	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
MONDO:0033864	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
MONDO:0033925	pediatric-onset Graves disease
MONDO:0033946	hereditary angioedema with C1Inh deficiency
MONDO:0034021	spondylodysplastic Ehlers-Danlos syndrome
MONDO:0034022	Bethlem myopathy 2
MONDO:0034024	kyphoscoliotic Ehlers-Danlos syndrome
MONDO:0034054	severe combined immunodeficiency due to CD70 deficiency
MONDO:0034092	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
MONDO:0034099	SYNGAP1-related developmental and epileptic encephalopathy
MONDO:0034103	infection-related hemolytic uremic syndrome
MONDO:0034104	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
MONDO:0034106	developmental and epileptic encephalopathy, 73
MONDO:0034109	congenital myopathy with reduced type 2 muscle fibers
MONDO:0034121	NAD(P)HX dehydratase deficiency
MONDO:0034127	IgA pemphigus
MONDO:0034142	pancreatic agenesis-holoprosencephaly syndrome
MONDO:0034145	oculocerebrodental syndrome
MONDO:0034189	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
MONDO:0036482	retinitis pigmentosa 81
MONDO:0036483	short-rib thoracic dysplasia 18 with polydactyly
MONDO:0036484	Charcot-Marie-Tooth disease, dominant intermediate G
MONDO:0040500	glycosylphosphatidylinositol biosynthesis defect 16
MONDO:0040501	ehlers-danlos syndrome, arthrochalasia type, 2
MONDO:0040502	glucocorticoid deficiency 5
MONDO:0040503	blepharocheilodontic syndrome 2
MONDO:0042486	polyposis syndrome, hereditary mixed, 1
MONDO:0042490	neutropenia, severe congenital, 1, autosomal dominant
MONDO:0042499	benign familial neonatal-infantile seizures 1
MONDO:0042977	trichoepithelioma, multiple familial, 1
MONDO:0042979	hypokalemic periodic paralysis, type 1
MONDO:0043003	familial acanthosis nigricans
MONDO:0043143	microphthalmia microtia fetal akinesia
MONDO:0043164	palmer pagon syndrome
MONDO:0043330	Mirizzi syndrome
MONDO:0043364	eosinophil peroxidase deficiency
MONDO:0044202	episodic kinesigenic dyskinesia
MONDO:0044204	Shwachman-Diamond syndrome 1
MONDO:0044205	Shwachman-Diamond syndrome 2
MONDO:0044206	otospondylomegaepiphyseal dysplasia, autosomal recessive
MONDO:0044207	specific granule deficiency 1
MONDO:0044208	specific granule deficiency 2
MONDO:0044299	myasthenic syndrome, congenital, 22
MONDO:0044300	familial adenomatous polyposis 4
MONDO:0044301	aortic aneurysm, familial thoracic 11, susceptibility to
MONDO:0044302	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MONDO:0044303	congenital heart defects and ectodermal dysplasia
MONDO:0044304	hyperphenylalaninemia due to DNAJC12 deficiency
MONDO:0044305	ectodermal dysplasia 13, hair/tooth type
MONDO:0044306	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
MONDO:0044308	bardet-biedl syndrome 21
MONDO:0044309	Diamond-Blackfan anemia 16
MONDO:0044310	Diamond-Blackfan anemia 17
MONDO:0044311	brachycephaly, trichomegaly, and developmental delay
MONDO:0044312	immunoskeletal dysplasia with neurodevelopmental abnormalities
MONDO:0044313	intellectual disability, autosomal recessive 60
MONDO:0044314	retinitis pigmentosa 78
MONDO:0044315	craniosynostosis 7
MONDO:0044316	thrombocytopenia, anemia, and myelofibrosis
MONDO:0044317	premature ovarian failure 13
MONDO:0044318	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
MONDO:0044319	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
MONDO:0044320	retinitis pigmentosa 79
MONDO:0044321	structural heart defects and renal anomalies syndrome
MONDO:0044322	intellectual developmental disorder with neuropsychiatric features
MONDO:0044323	Rahman syndrome
MONDO:0044324	Al Kaissi syndrome
MONDO:0044325	Fanconi anemia, complementation group W
MONDO:0044326	developmental delay and seizures with or without movement abnormalities
MONDO:0044327	polycystic liver disease 4 with or without kidney cysts
MONDO:0044328	short-rib thoracic dysplasia 20 with polydactyly
MONDO:0044329	osteogenesis imperfecta, type 18
MONDO:0044330	hyperekplexia 4
MONDO:0044331	genetic transient congenital hypothyroidism
MONDO:0044332	childhood-onset benign chorea with striatal involvement
MONDO:0044338	autoimmune primary ovarian failure
MONDO:0044350	hyperparathyroidism, primary, caused by water clear cell hyperplasia
MONDO:0044354	Rosai-Dorfman disease
MONDO:0044618	CLCN4-related X-linked intellectual disability syndrome
MONDO:0044621	16p12.1p12.3 triplication syndrome
MONDO:0044626	female infertility due to oocyte meiotic arrest
MONDO:0044628	six2-related frontonasal dysplasia
MONDO:0044632	extracranial carotid artery aneurysm
MONDO:0044634	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
MONDO:0044637	infantile-onset generalized dyskinesia with orofacial involvement
MONDO:0044641	9q33.3q34.11 microdeletion syndrome
MONDO:0044643	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
MONDO:0044646	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
MONDO:0044648	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
MONDO:0044651	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
MONDO:0044652	optic atrophy-peripheral neuropathy-developmental delay syndrome
MONDO:0044660	menstrual cycle-dependent periodic fever
MONDO:0044663	aquagenic palmoplantar keratoderma
MONDO:0044696	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
MONDO:0044700	SIN3A-related intellectual disability syndrome due to a point mutation
MONDO:0044701	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
MONDO:0044702	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
MONDO:0044714	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MONDO:0044718	alkaline ceramidase 3 deficiency
MONDO:0044720	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
MONDO:0044721	severe combined immunodeficiency due to LAT deficiency
MONDO:0044723	3-methylglutaconic aciduria type 8
MONDO:0044724	3-methylglutaconic aciduria type 9
MONDO:0044725	combined immunodeficiency due to GINS1 deficiency
MONDO:0044726	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
MONDO:0044737	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
MONDO:0044738	Gabriele de Vries syndrome
MONDO:0044776	premature ovarian failure 10
MONDO:0044777	premature ovarian failure 14
MONDO:0044778	nodular lymphocyte predominant Hodgkin lymphoma
MONDO:0044792	large congenital melanocytic nevus
MONDO:0044871	dystonia, focal, task-specific
MONDO:0049221	myopia 26, X-linked, female-limited
MONDO:0049222	intellectual disability, X-linked 107
MONDO:0049223	osteogenesis imperfecta, type 19
MONDO:0054549	peroxisome biogenesis disorder 10B
MONDO:0054550	avascular necrosis of femoral head, primary, 1
MONDO:0054551	avascular necrosis of femoral head, primary, 2
MONDO:0054559	congenital disorder of glycosylation, type IIq
MONDO:0054560	anauxetic dysplasia 1
MONDO:0054561	anauxetic dysplasia 2
MONDO:0054565	short-rib thoracic dysplasia 17 with or without polydactyly
MONDO:0054573	Lopes-Maciel-Rodan syndrome
MONDO:0054577	bleeding disorder, platelet-type, 21
MONDO:0054581	Townes-Brocks syndrome 1
MONDO:0054582	Townes-Brocks syndrome 2
MONDO:0054588	Noonan syndrome-like disorder with loose anagen hair 2
MONDO:0054591	Stankiewicz-Isidor syndrome
MONDO:0054593	microcephaly 18, primary, autosomal dominant
MONDO:0054601	pituitary adenoma 5, multiple types
MONDO:0054602	gaze palsy, familial horizontal, with progressive scoliosis, 2
MONDO:0054615	spermatogenic failure 18
MONDO:0054636	Skraban-Deardorff syndrome
MONDO:0054637	Noonan syndrome-like disorder with loose anagen hair 1
MONDO:0054654	combined oxidative phosphorylation deficiency 32
MONDO:0054666	ovarian dysgenesis 5
MONDO:0054669	pontocerebellar hypoplasia, type 11
MONDO:0054677	combined oxidative phosphorylation deficiency 33
MONDO:0054680	epiphyseal dysplasia, multiple, 7
MONDO:0054691	immunodeficiency, common variable, 14
MONDO:0054695	myopathy, centronuclear, 6, with fiber-type disproportion
MONDO:0054696	immunodeficiency 53
MONDO:0054697	immunodeficiency 11b with atopic dermatitis
MONDO:0054698	proteasome-associated autoinflammatory syndrome 1
MONDO:0054699	proteasome-associated autoinflammatory syndrome 3
MONDO:0054700	proteasome-associated autoinflammatory syndrome 2
MONDO:0054701	Kleefstra syndrome 2
MONDO:0054708	retinitis pigmentosa 80
MONDO:0054716	microcephaly 19, primary, autosomal recessive
MONDO:0054722	geleophysic dysplasia 3
MONDO:0054723	spermatogenic failure 19
MONDO:0054724	spermatogenic failure 20
MONDO:0054725	spermatogenic failure 21
MONDO:0054726	spermatogenic failure 22
MONDO:0054727	spermatogenic failure 23
MONDO:0054728	spermatogenic failure 24
MONDO:0054729	spermatogenic failure 25
MONDO:0054730	spermatogenic failure 26
MONDO:0054731	spermatogenic failure 27
MONDO:0054732	spermatogenic failure 28
MONDO:0054733	spermatogenic failure 29
MONDO:0054736	mosaic variegated aneuploidy syndrome 3
MONDO:0054737	Fraser syndrome 1
MONDO:0054738	Fraser syndrome 2
MONDO:0054739	Fraser syndrome 3
MONDO:0054740	blepharocheilodontic syndrome 1
MONDO:0054741	combined oxidative phosphorylation deficiency 34
MONDO:0054742	combined oxidative phosphorylation deficiency 35
MONDO:0054743	polycystic liver disease 3 with or without kidney cysts
MONDO:0054748	Fanconi anemia, complementation group S
MONDO:0054750	amyotrophic lateral sclerosis, susceptibility to, 24
MONDO:0054752	multiple synostoses syndrome 4
MONDO:0054754	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
MONDO:0054761	microcephaly 20, primary, autosomal recessive
MONDO:0054763	neurodegeneration with brain iron accumulation 7
MONDO:0054764	neurodegeneration with brain iron accumulation 8
MONDO:0054765	amyloidosis, primary localized cutaneous, 3
MONDO:0054770	orofaciodigital syndrome 18
MONDO:0054771	keratoconus 9
MONDO:0054776	epilepsy, familial focal, with variable foci 4
MONDO:0054780	elliptocytosis 3
MONDO:0054781	combined oxidative phosphorylation deficiency 36
MONDO:0054782	leukodystrophy, hypomyelinating, 15
MONDO:0054785	multiple mitochondrial dysfunctions syndrome 6
MONDO:0054791	leukodystrophy, hypomyelinating, 16
MONDO:0054794	hydrocephalus, congenital, 3, with brain anomalies
MONDO:0054801	erythrocytosis, familial, 6
MONDO:0054802	erythrocytosis, familial, 7
MONDO:0054804	microcephaly 21, primary, autosomal recessive
MONDO:0054805	microcephaly 22, primary, autosomal recessive
MONDO:0054806	microcephaly 23, primary, autosomal recessive
MONDO:0054813	Ehlers-Danlos syndrome, classic-like, 2
MONDO:0054817	leukodystrophy, hypomyelinating, 17
MONDO:0054831	Coffin-Siris syndrome 7
MONDO:0054832	corneal dystrophy, posterior polymorphous, 4
MONDO:0054833	charcot-marie-tooth disease, axonal, type 2DD
MONDO:0054835	parkinsonism-dystonia, infantile, 1
MONDO:0054836	parkinsonism-dystonia, infantile, 2
MONDO:0054837	intellectual disability, autosomal dominant 57
MONDO:0054838	cardiomyopathy, familial hypertrophic 27
MONDO:0054842	polycystic kidney disease 6 with or without polycystic liver disease
MONDO:0054843	ciliary dyskinesia, primary, 38
MONDO:0054844	pontocerebellar hypoplasia, type 1d
MONDO:0054845	developmental and epileptic encephalopathy, 66
MONDO:0054846	epilepsy, familial adult myoclonic, 6
MONDO:0054847	epilepsy, familial adult myoclonic, 7
MONDO:0054849	inflammatory bowel disease 29
MONDO:0054850	ovarian dysgenesis 6
MONDO:0054852	peeling skin syndrome 6
MONDO:0054860	deafness, autosomal recessive 110
MONDO:0054861	intellectual disability, autosomal recessive 63
MONDO:0054862	premature ovarian failure 15
MONDO:0056795	X-linked spermatogenic failure 1
MONDO:0056797	neurodevelopmental disorder with midbrain and hindbrain malformations
MONDO:0056822	amyotonia congenita
MONDO:0060455	X-linked congenital hemolytic anemia
MONDO:0060456	cerebral sclerosis, diffuse, scholz type
MONDO:0060457	autoinflammation with arthritis and dyskeratosis
MONDO:0060486	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
MONDO:0060489	46,XX sex reversal 4
MONDO:0060490	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
MONDO:0060491	neurodevelopmental disorder with involuntary movements
MONDO:0060496	neurodevelopmental disorder with hypotonia, neuropathy, and deafness
MONDO:0060502	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
MONDO:0060507	retinal dystrophy with or without macular staphyloma
MONDO:0060510	Cohen-Gibson syndrome
MONDO:0060532	congenital heart defects and skeletal malformations syndrome
MONDO:0060533	microcephaly, short stature, and limb abnormalities
MONDO:0060549	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
MONDO:0060550	polydactyly, postaxial, type a7
MONDO:0060551	cerebellar atrophy, developmental delay, and seizures
MONDO:0060554	vertebral, cardiac, renal, and limb defects syndrome 1
MONDO:0060555	vertebral, cardiac, renal, and limb defects syndrome 2
MONDO:0060556	joint laxity, short stature, and myopia
MONDO:0060562	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
MONDO:0060564	HELIX syndrome
MONDO:0060568	Pilarowski-Bjornsson syndrome
MONDO:0060577	neurodevelopmental disorder with microcephaly, ataxia, and seizures
MONDO:0060578	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
MONDO:0060582	auditory neuropathy-optic atrophy syndrome
MONDO:0060583	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
MONDO:0060585	neuronopathy, distal hereditary motor, type 9
MONDO:0060589	facial palsy, congenital, with ptosis and velopharyngeal dysfunction
MONDO:0060591	immunodeficiency, developmental delay, and hypohomocysteinemia
MONDO:0060592	Sweeney-Cox syndrome
MONDO:0060596	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
MONDO:0060611	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MONDO:0060621	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
MONDO:0060622	neurodevelopmental disorder with severe motor impairment and absent language
MONDO:0060624	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
MONDO:0060627	glycosylphosphatidylinositol biosynthesis defect 15
MONDO:0060629	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
MONDO:0060631	Alkuraya-Kucinskas syndrome
MONDO:0060640	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
MONDO:0060641	neurodevelopmental disorder with or without seizures and gait abnormalities
MONDO:0060642	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
MONDO:0060650	Leber congenital amaurosis with early-onset deafness
MONDO:0060659	neurodevelopmental disorder with poor language and loss of hand skills
MONDO:0060662	Diamond-Blackfan anemia-like
MONDO:0060663	congenital heart defects, multiple types, 5
MONDO:0060664	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
MONDO:0060666	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
MONDO:0060670	amyotrophic lateral sclerosis, susceptibility to, 25
MONDO:0060671	epilepsy, juvenile myoclonic, susceptibility to, 10
MONDO:0060677	chromosome 1p35 deletion syndrome
MONDO:0060702	spondyloepimetaphyseal dysplasia, di rocco type
MONDO:0060704	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
MONDO:0060707	Ververi-Brady syndrome
MONDO:0060711	Jaberi-Elahi syndrome
MONDO:0060712	developmental delay, intellectual disability, obesity, and dysmorphic features
MONDO:0060713	deafness, congenital heart defects, and posterior embryotoxon
MONDO:0060714	tumoral calcinosis, hyperphosphatemic, familial, 2
MONDO:0060715	tumoral calcinosis, hyperphosphatemic, familial, 3
MONDO:0060724	glycosylphosphatidylinositol biosynthesis defect 17
MONDO:0060729	protoporphyria, erythropoietic, 2
MONDO:0060732	tetraamelia syndrome 2
MONDO:0060733	humerofemoral hypoplasia with radiotibial ray deficiency
MONDO:0060745	intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MONDO:0060752	neurodevelopmental disorder with spasticity and poor growth
MONDO:0060758	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
MONDO:0060759	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
MONDO:0060760	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
MONDO:0060761	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
MONDO:0060763	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
MONDO:0060764	tetraamelia syndrome 1
MONDO:0100007	chronic inflammatory demyelinating polyneuropathy
MONDO:0100044	acrofrontofacionasal dysostosis 1
MONDO:0100058	hypervalinemia and hyperleucine-isoleucinemia
MONDO:0100062	developmental and epileptic encephalopathy
MONDO:0100079	developmental and epileptic encephalopathy, 6
MONDO:0100082	LEOPARD syndrome 1
MONDO:0100083	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
MONDO:0100092	myoclonus, familial, 2
MONDO:0100093	myoclonus, familial, 1
MONDO:0100095	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
MONDO:0100101	fetal akinesia deformation sequence 1
MONDO:0100102	fetal akinesia deformation sequence 2
MONDO:0100103	fetal akinesia deformation sequence 3
MONDO:0100104	fetal akinesia deformation sequence 4
MONDO:0100105	brain small vessel disease 3
MONDO:0100129	intracranial arachoid cyst
MONDO:0100130	adult acute respiratory distress syndrome
MONDO:0100133	mitochondrial complex I deficiency
MONDO:0100151	nephropathic cystinosis
MONDO:0100156	Imerslund-Grasbeck syndrome type 1
MONDO:0100157	Imerslund-Grasbeck syndrome type 2
MONDO:0100164	permanent neonatal diabetes mellitus
MONDO:0100165	permanent neonatal diabetes mellitus 1
MONDO:0100186	GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MONDO:0100189	apolipoprotein A-I deficiency
MONDO:0100211	growth hormone insensitivity with immune dysregulation 1, autosomal recessive
MONDO:0100213	IFAP syndrome with or without BRESHECK syndrome
MONDO:0100215	Rajab interstitial lung disease with brain calcifications 1
MONDO:0100218	arthrogryposis multiplex congenita 5
MONDO:0100219	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
MONDO:0100220	Rajab interstitial lung disease with brain calcifications 2
MONDO:0100221	IFAP syndrome 2
MONDO:0100224	mitochondrial complex I deficiency, nuclear type 1
MONDO:0100226	parasomnia, sleepwalking type
MONDO:0100245	acquired paroxysmal nocturnal hemoglobinuria
MONDO:0100249	46,XX testicular disorder of sex development
MONDO:0100250	46,XX sex reversal 1
MONDO:0100252	tumoral calcinosis, hyperphosphatemic, familial, 1
MONDO:0100253	Roberts-SC phocomelia syndrome
MONDO:0100255	adenosine kinase deficiency
MONDO:0100280	Waldenstrom macroglobulinemia
MONDO:0100281	macroglobulinemia, Waldenstrom, 1
MONDO:0100282	SC phocomelia syndrome
MONDO:0100285	extrahepatic biliary atresia
MONDO:0100288	enhanced S-cone syndrome
MONDO:0100294	mitochondrial complex II deficiency, nuclear type 1
MONDO:0100296	Olmsted syndrome 1
MONDO:0100297	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
MONDO:0100316	long QT syndrome 1
MONDO:0100325	odontochondrodysplasia 1
MONDO:0100339	Friedreich ataxia
MONDO:0100340	Friedreich ataxia 1
MONDO:0100344	Bartter disease type 1
MONDO:0100347	carcinoid syndrome
MONDO:0100348	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MONDO:0100350	neuronopathy, distal hereditary motor, type 5
MONDO:0100352	episodic kinesigenic dyskinesia 1
MONDO:0100354	megacystis-microcolon-intestinal hypoperistalsis syndrome 1
MONDO:0600024	familial idiopathic inflammatory myopathy
MONDO:0700060	leukemia, acute, X-linked
MONDO:0700087	Usher syndrome type 1B
MONDO:0700088	paroxysmal nonkinesigenic dyskinesia
MONDO:0700089	paroxysmal nonkinesigenic dyskinesia 1
MONDO:0700090	epilepsy, familial temporal lobe, 1
OMIA:000003	Achalasia of the oesophagus, congenital
OMIA:000008	Acromegaly
OMIA:000011	Paresis, posterior
OMIA:000012	Adactyly
OMIA:000016	Adrenal cortical atrophy
OMIA:000020	Agenesia of anal sphincter
OMIA:000021	Agenesis of corpus callosum
OMIA:000022	Agnathia
OMIA:000023	Agnathia (type-3 otocephaly)
OMIA:000027	Allergic rhinitis
OMIA:000028	Alloimmune haemolytic anaemia of the newborn
OMIA:000030	Alopecia, generic
OMIA:000031	Alopecia, colour mutant
OMIA:000033	Alzheimer disease
OMIA:000037	Amyloidosis
OMIA:000038	Amyloidosis, AA
OMIA:000039	Amyloidosis, lambda
OMIA:000040	Amyloidosis, renal
OMIA:000041	Diamond-Blackfan anaemia
OMIA:000044	Anencephaly
OMIA:000045	Aniridia with cataract
OMIA:000052	Aortic stenosis, subvalvular
OMIA:000053	Aorticopulmonary septal defect
OMIA:000054	Aphakia
OMIA:000060-9940	Argininaemia in sheep
OMIA:000061	Arnold-Chiari malformation
OMIA:000062	Artery, anomaly of
OMIA:000062-9825	OMIA:000062-9825
OMIA:000064	Arthritis
OMIA:000065	Arthritis deformans
OMIA:000066	Arthritis of the carpal joint
OMIA:000067	Arthritis, rheumatoid
OMIA:000068	Arthritis, type-II collagen-immune complex
OMIA:000076-9825	OMIA:000076-9825
OMIA:000077	Ataxia, generic
OMIA:000078	Ataxia, cerebellar, neonatal, GRM1-related
OMIA:000079	Ataxia, progressive, with degenerative thoracic myelopathy
OMIA:000080	Atherosclerosis
OMIA:000080-8932	Atherosclerosis in rock pigeon
OMIA:000080-93934	Atherosclerosis in Japanese quail
OMIA:000080-9615	Atherosclerosis in dog
OMIA:000080-9825	OMIA:000080-9825
OMIA:000083	Atresia ani
OMIA:000083-30538	Atresia ani in alpaca
OMIA:000083-9685	Atresia ani in domestic cat
OMIA:000083-9825	OMIA:000083-9825
OMIA:000083-9913	Atresia ani in cattle
OMIA:000083-9925	Atresia ani in goat
OMIA:000083-9940	Atresia ani in sheep
OMIA:000084	Atresia ani vaginalis
OMIA:000089	Atrial septal defect
OMIA:000090	Atrial septal defect and atrial fibrillation
OMIA:000091	Atrophic rhinitis
OMIA:000091-9825	OMIA:000091-9825
OMIA:000091-9913	Atrophic rhinitis in cattle
OMIA:000093	Audiogenic seizure
OMIA:000097	Autoimmune thyroiditis, spontaneous
OMIA:000098	Axonopathy, distal
OMIA:000099	Axonopathy, peripheral
OMIA:000100	Baldness, congenital
OMIA:000105-9796	Osteoporosis in horse
OMIA:000108-9103	Binucleated erythrocyte
OMIA:000109-9940	Birthcoat in sheep
OMIA:000112	Bleeding diathesis
OMIA:000114	Blindness
OMIA:000115	Blindness, congenital
OMIA:000146	Brachydactyly
OMIA:000146-9031	Brachydactyly in chicken
OMIA:000146-9615	Brachydactyly in dog
OMIA:000146-9825	OMIA:000146-9825
OMIA:000147	Brachygnathia
OMIA:000147-9615	Brachygnathia in dog
OMIA:000147-9793	Brachygnathia in ass
OMIA:000147-9796	Brachygnathia in horse
OMIA:000147-9913	Lethal brachygnathia trisomy syndrome
OMIA:000147-9940	Brachygnathia in sheep
OMIA:000149	Brachygnathia superior
OMIA:000149-9825	OMIA:000149-9825
OMIA:000149-9913	Brachygnathia superior in cattle
OMIA:000149-9925	Brachygnathia superior in goat
OMIA:000149-9940	Brachygnathia superior in sheep
OMIA:000149-9986	maxillary brachygnathism, congenital malocclusion, mandibula
OMIA:000150	Brachygnathia superior and degenerative joint disease
OMIA:000155-9615	C3 deficiency in dog
OMIA:000155-9986	C3 deficiency in rabbit
OMIA:000156-9986	C8 deficiency in rabbit
OMIA:000159	Cardiac anomaly
OMIA:000160	Cardiomyopathy
OMIA:000161	Cardiomyopathy and woolly haircoat syndrome
OMIA:000162	Cardiomyopathy, dilated
OMIA:000162-10036	Cardiomyopathy, dilated in golden hamster
OMIA:000162-34882	Cardiomyopathy, dilated in sea otter
OMIA:000162-9103	Cardiomyopathy, dilated in turkey
OMIA:000162-9615	Dilated cardiomyopathy
OMIA:000162-9685	Cardiomyopathy, dilated in domestic cat
OMIA:000162-9825	OMIA:000162-9825
OMIA:000162-9913	Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopa
OMIA:000162-9986	Cardiomyopathy, dilated in rabbit
OMIA:000164	Cardiomyopathy, spontaneous
OMIA:000165	Cardiovascular malformations
OMIA:000168	Cataract, generic
OMIA:000174	Cerebellar Purkinje cell degeneration
OMIA:000176	Cerebellar anomaly, congenital
OMIA:000179	Cerebellar hypoplasia
OMIA:000180	Cerebellar malformation
OMIA:000181-60468	Neuronal Ceroid Lipofuscinosis, generic in peach-faced lovebird
OMIA:000181-8839	Neuronal Ceroid Lipofuscinosis, generic in mallard
OMIA:000181-9541	Neuronal Ceroid Lipofuscinosis, generic in crab-eating macaque
OMIA:000181-9615	Neuronal ceroid lipofuscinosis
OMIA:000181-9669	Neuronal Ceroid Lipofuscinosis, generic in domestic ferret
OMIA:000181-9685	neuronal ceroid lipofuscinosis
OMIA:000181-9796	Neuronal ceroid lipofuscinosis
OMIA:000181-9825	OMIA:000181-9825
OMIA:000181-9913	Neuronal ceroid lipofuscinosis
OMIA:000181-9925	neuronal ceroid lipofuscinosis
OMIA:000181-9940	Neuronal ceroid lipofuscinosis
OMIA:000185-452646	Chediak-Higashi syndrome in American mink
OMIA:000185-494514	Chediak-Higashi syndrome in Arctic fox
OMIA:000185-9685	Chediak-Higashi syndrome in domestic cat
OMIA:000185-9733	Chediak-Higashi syndrome in killer whale
OMIA:000185-9913	Chediak-Higashi syndrome in cattle
OMIA:000192	Chronic interstitial nephropathy
OMIA:000194-9913	Citrullinaemia in cattle
OMIA:000197	Cleft palate
OMIA:000201-30538	Coat colour, agouti in alpaca
OMIA:000201-9627	Coat colour, agouti in red fox
OMIA:000202-452646	Coat colour, albinism in American mink
OMIA:000202-8090	Coat colour, albinism in Japanese medaka
OMIA:000213-74535	Coat colour, white in Bengal tiger
OMIA:000214-9615	Coat colour, white spotting in dog
OMIA:000214-9685	Coat colour, white spotting in domestic cat
OMIA:000214-9796	Splashed white, macchiato
OMIA:000214-9913	Coat colour, white spotting in cattle
OMIA:000218-9615	Collie eye anomaly in dog
OMIA:000221	Congenital anaemia, dyskeratosis and progressive alopecia
OMIA:000224	Conotruncal heart malformations
OMIA:000230	Corneal dystrophy
OMIA:000231	Corneal opacity
OMIA:000237	Cranioschisis
OMIA:000242	Crippled
OMIA:000243	Cryptorchidism
OMIA:000243-9615	Cryptorchidism in dog
OMIA:000243-9685	Cryptorchidism in domestic cat
OMIA:000247	Cushing disease
OMIA:000248-9615	Grey Collie Syndrome; Gray Collie Syndrome
OMIA:000249	Cyclopia
OMIA:000249-452646	Cyclopia in American mink
OMIA:000249-9031	Cyclopia in chicken
OMIA:000249-9615	Cyclopia in dog
OMIA:000249-9685	Cyclopia in domestic cat
OMIA:000249-9796	Cyclopia in horse
OMIA:000249-9825	OMIA:000249-9825
OMIA:000249-9913	Cyclopia in cattle
OMIA:000249-9940	Cyclopia in sheep
OMIA:000250	Cystic bile ducts and renal tubules
OMIA:000252	Cystic liver
OMIA:000254	Cystic ovary
OMIA:000255	Cystic renal dysplasia
OMIA:000256-9615	Cystinuria, type I - A in dog
OMIA:000258	Dandy-Walker syndrome
OMIA:000259	Deafness
OMIA:000263-9615	Canine degenerative myelopathy
OMIA:000264	Degenerative myopathy of deep pectoral muscle
OMIA:000265	Degenerative myopathy of obturator-externus
OMIA:000267	Delta 9-tetrahydrocannabinol seizure
OMIA:000269	Dermatitis, atopic
OMIA:000271-9825	Club foot
OMIA:000275	Retinal detachment
OMIA:000286	Diaphragmatic defects
OMIA:000292-9940	Doggy wool in sheep
OMIA:000301	Ocular-skeletal dysplasia
OMIA:000313	Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia
OMIA:000314	Ear defect
OMIA:000315	Ear length
OMIA:000316	Ear tuftedness
OMIA:000317	Ears, crop
OMIA:000317-9913	Notched ears; Nicked ears
OMIA:000318	Ears, double
OMIA:000319	Ears, folded
OMIA:000320	Ears, four
OMIA:000320-9685	Ears, four in domestic cat
OMIA:000321	Ears, notched
OMIA:000322	Ears, short
OMIA:000323	Ectodermal dysplasia
OMIA:000323-9031	Ectodermal dysplasia in chicken
OMIA:000323-9615	Canine ectodermal dysplasia
OMIA:000325	Ectropion
OMIA:000327	Ehlers-Danlos syndrome
OMIA:000328	Ehlers-Danlos syndrome, type VII (Dermatosparaxis)
OMIA:000328-9685	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in domestic cat
OMIA:000328-9913	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in cattle
OMIA:000328-9940	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in sheep
OMIA:000337	Entropion
OMIA:000339	Epidermolysis
OMIA:000340	Epidermolysis bullosa
OMIA:000341	Epidermolysis bullosa, dystrophic
OMIA:000341-9615	Recessive dystrophic epidermolysis bullosa (RDEB)
OMIA:000341-9685	Epidermolysis bullosa, dystrophic in domestic cat
OMIA:000341-9913	Epidermolysis bullosa, dystrophic in cattle
OMIA:000341-9925	Epidermolysis bullosa, dystrophic in goat
OMIA:000341-9940	Epidermolysis bullosa, dystrophic in sheep
OMIA:000342	Epidermolysis bullosa, junctionalis
OMIA:000344	Epilepsy
OMIA:000348-89462	Epitheliogenesis imperfecta in water buffalo
OMIA:000348-9685	Epitheliogenesis imperfecta in domestic cat
OMIA:000348-9796	Epitheliogenesis imperfecta in horse
OMIA:000348-9825	Aplasia cutis congenita
OMIA:000348-9913	Epitheliogenesis imperfecta in cattle
OMIA:000348-9940	Epitheliogenesis imperfecta in sheep
OMIA:000351	Excessive appetite for water
OMIA:000352	Exencephaly
OMIA:000353	Exophthalmos with strabismus
OMIA:000355	Extra ear lobes
OMIA:000358	Eye defects
OMIA:000359	Eyelid gland, third, prolapse of
OMIA:000364-9615	Factor XII deficiency in dog
OMIA:000364-9685	Factor XII deficiency in domestic cat
OMIA:000364-9733	Factor XII deficiency in killer whale
OMIA:000364-9739	Factor XII deficiency in bottlenosed dolphin
OMIA:000366	Fanconi syndrome
OMIA:000373-9031	Feather colour, dominant white in chicken
OMIA:000374-70340	Feather colour, extended black in Lesser snow goose
OMIA:000374-87177	Feather colour, extended black in Bananaquit
OMIA:000374-8996	Feather colour, extended black in helmeted guineafowl
OMIA:000380-8996	Feathering, Z-linked in helmeted guineafowl
OMIA:000380-9031	Feathering, Z-linked in chicken
OMIA:000380-9103	Feathering, Z-linked in turkey
OMIA:000383-9940	Fecundity, Booroola, FecB(B) in sheep
OMIA:000384-9940	Fecundity, Galway, FecX(G) in sheep
OMIA:000385-9940	Fecundity, Thoka, FecG(T) in sheep
OMIA:000386-9940	Fecundity, Inverdale, FecX(I) in sheep
OMIA:000387-9940	Fecundity, Java in sheep
OMIA:000391	Fragile X
OMIA:000392-34880	Fragile site in raccoon dog
OMIA:000392-9615	Fragile site in dog
OMIA:000392-9685	Fragile site in domestic cat
OMIA:000392-9796	Fragile site in horse
OMIA:000392-9825	OMIA:000392-9825
OMIA:000392-9940	Fragile site in sheep
OMIA:000396-9615	Fucosidosis, alpha in dog
OMIA:000402-8790	Gangliosidosis, GM1 in emu
OMIA:000402-9615	Gangliosidosis, GM1 in dog
OMIA:000402-9685	Gangliosidosis, GM1 in domestic cat
OMIA:000402-9913	Gangliosidosis, GM1 in cattle
OMIA:000402-9940	Gangliosidosis, GM1 in sheep
OMIA:000405	Gaucher disease, type I
OMIA:000411	Glaucoma, generic
OMIA:000413	Glomerulonephritis
OMIA:000414	Glomerulonephropathy
OMIA:000415	Glossopharyngeal defect
OMIA:000418	Glycogen storage disease Ia
OMIA:000418-9615	Glycogen storage disease Ia in dog
OMIA:000419	Glycogen storage disease II
OMIA:000420	Glycogen storage disease IV
OMIA:000421	Glycogen storage disease VII
OMIA:000421-9615	Glycogen storage disease VII in dog
OMIA:000424	Goitre, familial
OMIA:000424-10036	Goitre, familial in golden hamster
OMIA:000424-69297	Goitre, familial in bongo
OMIA:000424-89462	Goitre, familial in water buffalo
OMIA:000424-9031	Goitre, familial in chicken
OMIA:000424-9615	Goitre, familial in dog
OMIA:000424-9643	Goitre, familial in American black bear
OMIA:000424-9685	Goitre, familial in domestic cat
OMIA:000424-9825	OMIA:000424-9825
OMIA:000424-9913	Goitre, familial in cattle
OMIA:000424-9925	Goitre, familial in goat
OMIA:000424-9940	Goitre, familial in sheep
OMIA:000425-9940	Golden ram effect in sheep
OMIA:000426	Gonadal hypoplasia
OMIA:000426-9913	Gonadal hypoplasia in cattle
OMIA:000428	Haemochromatosis
OMIA:000429	Haemoglobin, abnormal
OMIA:000430	Haemolytic anaemia
OMIA:000432	Haemolytic anaemia, autoimmune
OMIA:000433	Haemolytic anaemia, nonspherocytic
OMIA:000434	Haemolytic anaemia, primary autoimmune
OMIA:000437	Haemophilia A
OMIA:000437-9615	Haemophilia A in dog
OMIA:000437-9825	OMIA:000437-9825
OMIA:000438	Haemophilia B
OMIA:000443-9940	Carpet wool
OMIA:000444	Harelip
OMIA:000452-9031	Henny feathering in chicken
OMIA:000468-10036	Heterochromia irides/iridis in golden hamster
OMIA:000468-9615	Heterochromia irides/iridis in dog
OMIA:000468-9825	Glass eye
OMIA:000468-9913	Heterochromia irides/iridis in cattle
OMIA:000468-9940	Heterochromia irides/iridis in sheep
OMIA:000483-9913	Haplotype BHP; Haplotype HHP; Haplotype JHP
OMIA:000483-9925	Polled/Intersex syndrome (PIS)
OMIA:000483-9940	Polled/Horns in sheep
OMIA:000496-27679	Hyperbilirubinaemia I in Bolivian squirrel monkey
OMIA:000496-9796	Hyperbilirubinaemia I in horse
OMIA:000496-9940	Hyperbilirubinaemia I in sheep
OMIA:000497-9940	Hyperbilirubinaemia II in sheep
OMIA:000507-9825	Inherited thick forelegs
OMIA:000515	Cardiomyopathy, hypertrophic
OMIA:000515-9685	Feline familial HCM
OMIA:000515-9825	OMIA:000515-9825
OMIA:000536-9031	Hypothyroidism in chicken
OMIA:000536-9615	Congenital hypothyroidism with goiter
OMIA:000536-9685	Hypothyroidism in domestic cat
OMIA:000536-9796	Hypothyroidism in horse
OMIA:000536-9925	Hypothyroidism in goat
OMIA:000536-9940	Hypothyroidism in sheep
OMIA:000543-9615	Ectodermal dysplasia, X-linked, X-linked hypohidrotic ectode
OMIA:000545-93934	Quiver quail; hax
OMIA:000552-9612	Immunoglobulin A deficiency in gray wolf
OMIA:000565-9615	Intestinal cobalamin malabsorption, AMN-related in dog
OMIA:000573-9615	Kartagener syndrome in dog
OMIA:000573-9685	Kartagener syndrome in domestic cat
OMIA:000573-9825	OMIA:000573-9825
OMIA:000576-9615	Knobbed acrosome in dog
OMIA:000576-9796	Knobbed acrosome in horse
OMIA:000576-9825	OMIA:000576-9825
OMIA:000576-9913	Knobbed acrosome in cattle
OMIA:000576-9940	Knobbed acrosome in sheep
OMIA:000578-9544	Krabbe disease in Rhesus monkey
OMIA:000578-9615	globoid cell leukodystrophy
OMIA:000578-9685	Krabbe disease in domestic cat
OMIA:000578-9940	Krabbe disease in sheep
OMIA:000591-9940	Coat colour, lethal grey/gray in sheep
OMIA:000595-89462	Leukocyte adhesion deficiency, type I in water buffalo
OMIA:000595-9615	Canine leukocyte adhesion deficiency
OMIA:000610-9940	Lustrous wool in sheep
OMIA:000621-9615	Malignant hyperthermia in dog
OMIA:000621-9825	Porcine Stress Syndrome
OMIA:000625-9685	Mannosidosis, alpha in domestic cat
OMIA:000625-9913	Mannosidosis, alpha in cattle
OMIA:000626-59523	Mannosidosis, beta in springbok
OMIA:000626-9913	Mannosidosis, beta in cattle
OMIA:000626-9925	Mannosidosis, beta in goat
OMIA:000627-9913	Maple syrup urine disease in cattle
OMIA:000628-9913	Marfan Syndrome
OMIA:000629-9685	Megacolon in domestic cat
OMIA:000629-9796	Overo lethal white foal syndrome; frame overo spotting
OMIA:000629-9825	OMIA:000629-9825
OMIA:000629-9913	Megacolon in cattle
OMIA:000629-9986	Megacolon in rabbit
OMIA:000636-9825	Porcine dense deposit disease; Hereditary factor H deficienc
OMIA:000642-9940	Mesangiocapillary glomerulonephritis, type I in sheep
OMIA:000648-8835	Micromelia in ducks
OMIA:000648-9031	Micromelia in chicken
OMIA:000648-93934	Micromelia in Japanese quail
OMIA:000662-9615	Motor neuron disease, lower in dog
OMIA:000662-9796	Motor neuron disease, lower in horse
OMIA:000662-9825	OMIA:000662-9825
OMIA:000662-9940	Motor neuron disease, lower in sheep
OMIA:000664-9615	Mucopolysaccharidosis I
OMIA:000664-9685	Mucopolysaccharidosis I in domestic cat
OMIA:000665-9925	Mucopolysaccharidosis IIID in goat
OMIA:000666-9615	Mucopolysaccharidosis VI in dog
OMIA:000666-9685	Mucopolysaccharidosis VI in domestic cat
OMIA:000667-9615	Mucopolysaccharidosis VII in dog
OMIA:000667-9685	Mucopolysaccharidosis VII in domestic cat
OMIA:000668-9031	Muffs and beard in chicken
OMIA:000679-452646	Muscular dystrophy in American mink
OMIA:000679-9031	Abnormal muscle; AM
OMIA:000679-9103	Muscular dystrophy in turkey
OMIA:000679-9615	Muscular dystrophy in dog
OMIA:000679-9685	Muscular dystrophy in domestic cat
OMIA:000679-9940	Muscular dystrophy in sheep
OMIA:000683-9913	Double muscling
OMIA:000685-9615	Myasthenic syndrome, congenital, CHRNE-related in dog
OMIA:000685-9913	Myasthenic syndrome, congenital, CHRNE-related in cattle
OMIA:000698-89462	Myotonia in water buffalo
OMIA:000698-9615	Myotonia in dog
OMIA:000698-9685	Myotonia in domestic cat
OMIA:000698-9796	Myotonia in horse
OMIA:000698-9925	Myotonia in goat
OMIA:000698-9940	Myotonia in sheep
OMIA:000703-9615	Narcolepsy in dog
OMIA:000703-9685	Narcolepsy in domestic cat
OMIA:000703-9796	Narcolepsy in horse
OMIA:000703-9940	Narcolepsy in sheep
OMIA:000708	Nephritis
OMIA:000710	Nephropathy
OMIA:000715-9615	Fetal-onset neuroaxonal dystrophy
OMIA:000715-9685	Neuroaxonal dystrophy in domestic cat
OMIA:000715-9796	Neuroaxonal dystrophy in horse
OMIA:000715-9940	Neuroaxonal dystrophy in sheep
OMIA:000715-9986	Neuroaxonal dystrophy in rabbit
OMIA:000716-32443	Neurofibromatosis in teleost fishes
OMIA:000716-9913	Neurofibromatosis in cattle
OMIA:000723-9940	Neuropathy, thalamic-cerebellar in sheep
OMIA:000747	Osteoarthritis
OMIA:000770-9615	Shaking pup
OMIA:000770-9825	Congenital tremor syndrome
OMIA:000770-9986	Tremor, X-linked in rabbit
OMIA:000785-9796	Hyperkalemic Periodic Paralysis (HYPP)
OMIA:000791-9615	Persistent Mullerian Duct Syndrome
OMIA:000791-9685	Persistent Mullerian duct syndrome in domestic cat
OMIA:000791-9925	Persistent Mullerian duct syndrome in goat
OMIA:000806-9940	Polyceraty in sheep
OMIA:000807-10160	Polycystic kidney disease in degu
OMIA:000807-59523	Polycystic kidney disease in springbok
OMIA:000807-9615	Polycystic kidney disease in dog
OMIA:000807-9685	Polycystic kidney disease in domestic cat
OMIA:000807-9796	Polycystic kidney disease in horse
OMIA:000807-9858	Polycystic kidney disease in Western roe deer
OMIA:000807-9940	Polycystic kidney disease in sheep
OMIA:000807-9986	Polycystic kidney disease in rabbit
OMIA:000818-9940	Potassium transport in sheep
OMIA:000844-9615	Pyruvate kinase deficiency of erythrocyte in dog
OMIA:000844-9685	Pyruvate kinase deficiency of erythrocyte in domestic cat
OMIA:000853-9940	Reduced glutathione deficiency due to GCS deficiency in sheep
OMIA:000864-9940	Response to noradrenaline in sheep
OMIA:000878-9615	Arrhythmogenic right ventricular cardiomyopathy
OMIA:000878-9685	Arrhythmogenic right ventricular cardiomyopathy in domestic cat
OMIA:000899-9615	Severe combined immunodeficiency disease, X-linked in dog
OMIA:000899-9825	OMIA:000899-9825
OMIA:000914-9940	Silky wool in sheep
OMIA:000939-9615	Spinal muscular atrophy in dog
OMIA:000939-9685	Spinal muscular atrophy in domestic cat
OMIA:000939-9913	Haplotype BHM
OMIA:000941-9940	Split eyelid in sheep
OMIA:000944-10036	Spongiform encephalopathy in golden hamster
OMIA:000944-32536	Spongiform encephalopathy in cheetah
OMIA:000944-37185	Spongiform encephalopathy in blue antelope
OMIA:000944-39411	Spongiform encephalopathy in Arabian oryx
OMIA:000944-452646	Scrapie
OMIA:000944-89462	Spongiform encephalopathy in water buffalo
OMIA:000944-9031	Spongiform encephalopathy in chicken
OMIA:000944-9483	Spongiform encephalopathy in white-tufted-ear marmoset
OMIA:000944-9539	Spongiform encephalopathy in macaques
OMIA:000944-9541	Spongiform encephalopathy in crab-eating macaque
OMIA:000944-9544	Spongiform encephalopathy in Rhesus monkey
OMIA:000944-9615	Spongiform encephalopathy in dog
OMIA:000944-9669	Spongiform encephalopathy in domestic ferret
OMIA:000944-9685	Spongiform encephalopathy in domestic cat
OMIA:000944-9696	Spongiform encephalopathy in puma
OMIA:000944-9825	OMIA:000944-9825
OMIA:000944-9850	Spongiform encephalopathy in deer
OMIA:000944-9861	Spongiform encephalopathy in Eastern wapiti
OMIA:000944-9865	Spongiform encephalopathy in Manchurian Wapiti
OMIA:000944-9873	Spongiform encephalopathy in black-tailed deer
OMIA:000944-9913	Bovine spongiform encephalopathy; Mad Cow Disease
OMIA:000944-9925	Scrapie
OMIA:000944-9940	Scrapie
OMIA:000944-9945	Spongiform encephalopathy in eland
OMIA:000944-9946	Spongiform encephalopathy in greater kudu
OMIA:000944-9986	Spongiform encephalopathy in rabbit
OMIA:000961-9940	Swayback in sheep
OMIA:000963-9031	Syndactyly (mule foot) in chicken
OMIA:000963-9315	Syndactyly (mule foot) in tammar wallaby
OMIA:000963-9615	Syndactyly (mule foot) in dog
OMIA:000963-9685	Syndactyly (mule foot) in domestic cat
OMIA:000963-9825	OMIA:000963-9825
OMIA:000963-9913	Mule foot disease; Haplotype HHM
OMIA:000963-9940	Syndactyly (mule foot) in sheep
OMIA:000975-9615	bob-tail, bob tail
OMIA:000975-9940	Tail, short in sheep
OMIA:000977-9825	OMIA:000977-9825
OMIA:000977-9913	Taillessness in cattle
OMIA:000991-9615	Androgen insensitivity syndrome (AIS) in dog
OMIA:000991-9685	Androgen insensitivity syndrome (AIS) in domestic cat
OMIA:000991-9796	Androgen insensitivity syndrome (AIS) in horse
OMIA:000991-9825	OMIA:000991-9825
OMIA:000991-9913	Androgen insensitivity syndrome (AIS) in cattle
OMIA:000994-9615	Tetralogy of fallot in dog
OMIA:000994-9685	Tetralogy of fallot in domestic cat
OMIA:000994-9796	Tetralogy of fallot in horse
OMIA:000994-9913	Tetralogy of fallot in cattle
OMIA:000998-9940	Thread defect in sheep
OMIA:001033-10152	Urolithiasis in short-tailed chinchilla
OMIA:001033-9322	Urolithiasis in kangaroo
OMIA:001033-9615	Hyperuricosuria and hyperuricemia
OMIA:001033-9669	Urolithiasis in domestic ferret
OMIA:001033-9685	Urolithiasis in domestic cat
OMIA:001033-9796	Urolithiasis in horse
OMIA:001033-9825	OMIA:001033-9825
OMIA:001033-9844	Urolithiasis in llama
OMIA:001033-9913	Urolithiasis in cattle
OMIA:001033-9925	Urolithiasis in goat
OMIA:001033-9940	Urolithiasis in sheep
OMIA:001079-9796	Yellow fat in horse
OMIA:001079-9825	OMIA:001079-9825
OMIA:001079-9913	Yellow fat in cattle
OMIA:001079-9940	Yellow fat in sheep
OMIA:001079-9986	Yellow fat in rabbit
OMIA:001081-9615	X-linked muscular dystrophy; Dystrophin-deficient muscular d
OMIA:001081-9685	Muscular dystrophy, Duchenne type in domestic cat
OMIA:001085-9825	"""Hampshire effect"""
OMIA:001087	Anaemia
OMIA:001088-9825	K88 scours
OMIA:001091	Ataxia, progressive
OMIA:001091-9615	Ataxia, progressive in dog
OMIA:001091-9825	congenital progressive ataxia and spastic paresis
OMIA:001091-9913	Ataxia, progressive in cattle
OMIA:001093-9615	Hepatitis, chronic active in dog
OMIA:001094-9615	Hepatitis, neonatal in dog
OMIA:001097-9913	Necrotising encephalopathy, subacute, of Leigh in cattle
OMIA:001098-9615	Polymicrogyria and asymmetrical ventricular dilation in dog
OMIA:001102-9685	Situs inversus in domestic cat
OMIA:001106	Axonopathy
OMIA:001112	Nephritis, X-linked
OMIA:001112-9615	Alport syndrome
OMIA:001114	Nephritis, autosomal dominant
OMIA:001119-89462	Abomasum, displaced in water buffalo
OMIA:001119-9913	Abomasum, displaced in cattle
OMIA:001119-9940	Abomasum, displaced in sheep
OMIA:001122	Connected toes
OMIA:001132-9615	Spondylosis deformans in dog
OMIA:001132-9685	Spondylosis deformans in domestic cat
OMIA:001135	Renal dysplasia
OMIA:001139	Glycogen storage disease V
OMIA:001139-9913	Myophosphorylase deficiency
OMIA:001139-9940	Glycogen storage disease V in sheep
OMIA:001140	Cleft lip with or without cleft palate
OMIA:001142-9615	Wilms tumour in dog
OMIA:001142-9825	OMIA:001142-9825
OMIA:001142-9913	Wilms tumour in cattle
OMIA:001142-9940	Wilms tumour in sheep
OMIA:001157	Anisocoria
OMIA:001158-9615	Polysaccharide storage myopathy/Exertional rhabdomyolysis in dog
OMIA:001158-9796	Equine rhabdomyolysis syndrome; Polysaccharide storage myopa
OMIA:001158-9825	OMIA:001158-9825
OMIA:001168	Coronal suture synostosis
OMIA:001169	Ascites
OMIA:001175-9685	Porphyria, congenital erythropoietic in domestic cat
OMIA:001175-9913	Pink tooth
OMIA:001181	Atrial fibrillation
OMIA:001186	Erythrocytosis
OMIA:001199-10141	Coat colour, extension in domestic guinea pig
OMIA:001199-30521	Coat colour, extension in domestic yak
OMIA:001199-30538	Coat colour, extension in alpaca
OMIA:001199-30640	Coat colour, extension in gray squirrel
OMIA:001199-37349	Coat colour, extension in woolly mammoth
OMIA:001199-38666	Coat colour, extension in rock pocket mouse
OMIA:001199-42413	Coat colour, extension in oldfield mouse
OMIA:001199-43597	Coat colour, extension in lesser earless lizard
OMIA:001199-494514	Coat colour, extension in Arctic fox
OMIA:001199-61402	Also known as Puma yagouaroundi
OMIA:001199-68352	Coat colour, extension in little striped whiptail
OMIA:001199-89462	Coat colour, extension in water buffalo
OMIA:001199-9614	Coat colour, extension in coyote
OMIA:001199-9615	Coat colour, extension in dog
OMIA:001199-9627	Coat colour, extension in red fox
OMIA:001199-9643	Coat colour, extension in American black bear
OMIA:001199-9685	Coat colour, extension in domestic cat
OMIA:001199-9690	Coat colour, extension in jaguar
OMIA:001199-9796	Chestnut
OMIA:001199-9825	OMIA:001199-9825
OMIA:001199-9913	Black/red coat colour; Haplotype HBR; Haplotype HHR
OMIA:001199-9925	Coat colour, extension in goat
OMIA:001199-9940	Dominant black
OMIA:001199-9986	Coat colour, extension in rabbit
OMIA:001200-9539	Tremor, high-frequency in macaques
OMIA:001200-9825	Campus syndrome
OMIA:001226-9031	Polymelia in chicken
OMIA:001226-9615	Polymelia in dog
OMIA:001226-9913	Polymelia in cattle
OMIA:001226-9940	Polymelia in sheep
OMIA:001228-9615	Spherocytosis in dog
OMIA:001233	Cyanosis
OMIA:001240-9615	Hyperphosphatasaemia in dog
OMIA:001245-9031	GUCY1*
OMIA:001246	Chronic valvular disease
OMIA:001248-9685	Mucolipidosis II in domestic cat
OMIA:001270	Convulsions and ataxia, familial
OMIA:001272-9615	Schnauzer comedo syndrome
OMIA:001273-9940	Resistance to Fasciola gigantica in sheep
OMIA:001274-452646	Coat colour, black crystal in American mink
OMIA:001292-9615	Polyneuropathy in dog
OMIA:001299-9031	Resistance to avian sarcoma and leukosis viruses, subgroup A in chicken
OMIA:001302-9031	tvb locus
OMIA:001321	Nephritis, X-linked dominant
OMIA:001323	Dwarfism, Laron
OMIA:001331	Eclampsia
OMIA:001334-9825	Immotile short-tail sperm defect; Sterilizing short-tail spe
OMIA:001334-9913	Also known as stump sperm defect; one form of multiple morph
OMIA:001340	Complex vertebral malformation
OMIA:001340-9913	Haplotype HHC
OMIA:001344-9615	Coat colour, cream dilution in dog
OMIA:001344-9796	Palomino
OMIA:001354-9940	Callipyge
OMIA:001355-9940	Carwell; rib-eye muscling (REM)
OMIA:001356-9796	Gray; Grey; Greying with age
OMIA:001359	Nephritis, autosomal recessive
OMIA:001363	Ataxia, progressive, with head tremor and seizures
OMIA:001367	Blindness enlarged globe
OMIA:001371-9615	L-2-hydroxyglutaric aciduria
OMIA:001397	Eyelid gland, third, prolpase of
OMIA:001402-9615	Invermectin sensitivity
OMIA:001404-9913	Leptin concentration in cattle
OMIA:001405-9615	Protein deletion
OMIA:001406-9615	Pyruvate dehydrogenase deficiency in dog
OMIA:001407-9913	Black kidney
OMIA:001415-9615	Hyperkeratosis, epidermolytic in dog
OMIA:001417-9615	Pulmonary fibrosis, idiopathic in dog
OMIA:001417-9685	Pulmonary fibrosis, idiopathic in domestic cat
OMIA:001418-9615	CD
OMIA:001436-9825	OMIA:001436-9825
OMIA:001442-9913	Forelimb-girdle muscular anomaly in cattle
OMIA:001443-9615	Neuronal ceroid lipofuscinosis, 6 in dog
OMIA:001443-9940	Battens disease
OMIA:001444-9615	Canine multifocal retinopathy
OMIA:001450-9913	Congenital muscular dystonia 1 in cattle
OMIA:001451-9913	Congenital muscular dystonia 2 in cattle
OMIA:001452-9913	Crooked tail syndrome
OMIA:001461-9217	Gangliosidosis, GM2, type I (B variant) in American flamingo
OMIA:001461-9615	Gangliosidosis, GM2, type I
OMIA:001461-9888	Gangliosidosis, GM2, type I (B variant) in muntjak
OMIA:001461-9940	Gangliosidosis, GM2, type I (B variant) in sheep
OMIA:001461-9986	Gangliosidosis, GM2, type I (B variant) in rabbit
OMIA:001465-9825	OMIA:001465-9825
OMIA:001465-9913	Bovine Hereditary Arthrogyposis Multiplex Congentia
OMIA:001466-9615	Exercise-induced collapse in dog
OMIA:001471-9615	Neonatal encephalopathy with seizures in dog
OMIA:001472-9615	Neuronal ceroid lipofuscinosis, 2 in dog
OMIA:001482-9615	Neuronal ceroid lipofuscinosis, 5 in dog
OMIA:001482-9913	Neuronal ceroid lipofuscinosis, 5 in cattle
OMIA:001482-9940	Neuronal ceroid lipofuscinosis, 5 in sheep
OMIA:001484-9685	Coat colour, ticked in domestic cat
OMIA:001488-9913	Encephalomyelopathy, multifocal symmetrical necrotizing, Angus in cattle
OMIA:001497-452646	Marbled
OMIA:001503-9615	Neuronal ceroid lipofuscinosis, 4A in dog
OMIA:001504-9615	Neuronal ceroid lipofuscinosis, 1 in dog
OMIA:001505-9615	Neuronal ceroid lipofuscinosis, 10 in dog
OMIA:001522-9615	Oculoskeletal dysplasia 1 in dog
OMIA:001523-9615	Oculoskeletal dysplasia 2 in dog
OMIA:001552-9615	Neuronal ceroid lipofuscinosis, 12 in dog
OMIA:001553-9615	cmr2
OMIA:001554-9615	cmr3
OMIA:001577-9615	Glycogen storage disease IIIa in dog
OMIA:001609-9615	Exfoliative cutaneous lupus erythematosus in dog
OMIA:001614-9685	Vitamin D-deficiency rickets, non-type I, non-type II in domestic cat
OMIA:001622-9031	Resistance to avian sarcoma and leukosis viruses, subgroup C in chicken
OMIA:001673-9825	OMIA:001673-9825
OMIA:001677	Epidermolysis bullosa, junctionalis, LAMA3-related
OMIA:001678	Epidermolysis bullosa, junctionalis, LAMC2-related
OMIA:001680-9913	German White Fleckvieh syndrome
OMIA:001721-32536	Coat colour, king in cheetah
OMIA:001730-9031	Stringy in chicken
OMIA:001743-9825	OMIA:001743-9825
OMIA:001744-9913	Resistance to mastitis in cattle
OMIA:001786-9615	Intestinal cobalamin malabsorption, CUBN-related in dog
OMIA:001789-9903	Trypanotolerance in oxen, cattle
OMIA:001794-9669	Cystic fibrosis in domestic ferret
OMIA:001794-9825	OMIA:001794-9825
OMIA:001805-9615	Amelogenesis imperfecta in dog
OMIM:184840	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
OMIM:234580	Deafness enamel hypoplasia nail defects
OMIM:616617	Heimler syndrome 2