| children | - 2-aminoadipic 2-oxoadipic aciduria 782918002
- 21-hydroxylase deficiency 698855007 removed: 2017-01-31
- 2p21 microdeletion syndrome 719652007
- 2p21 microdeletion syndrome without cystinuria 770754006
- 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007
- 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency 725286002
- 3-M syndrome 702342007
- 3-Methylglutaconic aciduria type 1 237951008
- 3-Methylglutaconic aciduria type 3 297232009
- 3-Methylglutaconic aciduria type 4 297233004
- 3-methylglutaconic aciduria type 5 711412004
- 3-methylglutaconic aciduria type 7 764860006
- 3-methylglutaconic aciduria type 9 1222672002
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 57514000
- 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001
- 3-phosphoglycerate dehydrogenase deficiency juvenile form 733636005
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- 46,XX ovarian dysgenesis, short stature syndrome 1237345002
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 1231281009
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome 783091003
- 4H leukodystrophy 1208933000
- 5,10-Methylenetetrahydrofolate reductase deficiency 41797007
- 5-amino-4-imidazole carboxamide ribosiduria 725289009
- 5-Oxoprolinase deficiency 26132002
- 7p22.1 microduplication syndrome 764703002
- Abetalipoproteinemia 190787008
- Absent thumb with short stature and immunodeficiency syndrome 719685004
- Absent tibia, polydactyly, arachnoid cyst syndrome 733068001
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome 718715007
- Achalasia microcephaly syndrome 718573009
- Achromatopsia 56852002
- Acid phosphatase deficiency 57863006
- Ackerman syndrome 722280000
- Acro-oto-ocular syndrome 720410001
- Acrocallosal syndrome 715951007
- Acrocapitofemoral dysplasia 720416007
- Acrocardiofacial syndrome 890221004
- Acrocephalopolydactyly 720417003
- Acrocephalopolysyndactyly type II 403767009
- Acrocephalopolysyndactyly type IV 733425005
- Acrocraniofacial dysostosis 720418008
- Acroerythrokeratoderma 239069005
- Acrofacial dysostosis Kennedy Teebi type 720427009
- Acrofacial dysostosis Rodriguez type 720430002
- Acrofrontofacionasal dysostosis 720408003
- Acrofrontofacionasal dysostosis type 2 721835008
- Acromesomelic dysplasia Hunter-Thompson type 389167007
- Acromesomelic dysplasia Maroteaux type 718559000
- Acrorenal mandibular syndrome 720414005
- Action myoclonus renal failure syndrome 764453009
- Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein 720461006
- Acute infantile liver failure with multisystemic involvement syndrome 774207004
- Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome 1187643003
- Acute neuronopathic Gaucher's disease 12246008
- Acyl-CoA dehydrogenase 9 deficiency 725046003
- Acyl-CoA oxidase deficiency 238069004
- Adducted thumbs and arthrogryposis syndrome Christian type 720463009
- Adenylosuccinate lyase deficiency 15285008
- Adenylosuccinate synthetase-like 1-related distal myopathy 1172694007
- Adult polyglucosan body disease 721099001
- Adult-onset autosomal recessive cerebellar ataxia 785302009
- Adult-onset autosomal recessive sideroblastic anemia 720465002
- Adult-onset dystonia parkinsonism 720466001
- Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency 733599009
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Aicardi Goutieres syndrome type 2 1187046005
- Aicardi Goutieres syndrome type 3 1187047001
- Aicardi Goutieres syndrome type 4 1187048006
- Aicardi Goutieres syndrome type 5 1187049003
- Albinotic fundus 55819001
- ALG1 congenital disorder of glycosylation 720941007
- ALG12-congenital disorder of glycosylation 711155008
- ALG3 congenital disorder of glycosylation 720976009
- ALG8 congenital disorder of glycosylation 720977000
- ALG9 congenital disorder of glycosylation 720978005
- Alkaline ceramidase 3 deficiency 1237515001
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections 239050000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alpha-1-antitrypsin deficiency 30188007
- Alpha-methylacyl-CoA racemase deficiency disorder 700463002
- Alpha-N-acetylgalactosaminidase deficiency 238048001
- Alport syndrome autosomal recessive 717767009
- Alstrom syndrome 63702009
- Amaurosis hypertrichosis syndrome 720983002
- Amelogenesis imperfecta - recessive - rough 234964000
- Amelogenesis imperfecta and gingival hyperplasia syndrome 707607008
- Amelogenesis imperfecta, pigmented hypomaturation type 109474009
- Aminomethyltransferase deficiency 67845009
- Amish lethal microcephaly 702437000
- Amish nemaline myopathy 1197155007
- Amyotonia congenita 63135006
- Andermann syndrome 702439002
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- ANK3-related intellectual disability, sleep disturbance syndrome 787175002
- Anonychia with microcephaly syndrome 720494009
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome 720495005
- Anophthalmia plus syndrome 720496006
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome 1222706005
- Antley-Bixler syndrome 62964007
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome 733118006
- Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome 720500008
- Aplasia cutis with myopia syndrome 720499004
- Apparent mineralocorticoid excess 703256004 removed: 2020-07-31
- Arginase deficiency 23501004
- Arginine:glycine amidinotransferase deficiency 702440000
- Argininosuccinate lyase deficiency 41013004
- Arterial tortuosity syndrome 458432002
- Arthrogryposis and ectodermal dysplasia syndrome 786039009
- Aspartylglucosaminuria 54954004
- Ataxia with vitamin E deficiency 702442008
- Ataxia-telangiectasia syndrome 68504005
- Ateliotic dwarfism without insulinopenia 178456000
- Atelosteogenesis type 2 254055004
- Athabaskan brainstem dysgenesis syndrome 720518006
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 720519003
- ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
- Atrophoderma vermiculatum 2736005
- Attenuated Chédiak-Higashi syndrome 720520009
- Atypical dentin dysplasia due to SMOC2 deficiency 783059004
- Atypical Krabbe disease due to saposin A deficiency 1296731001
- Atypical pantothenate kinase associated neurodegeneration 1186856001
- Auditory neuropathy, optic atrophy syndrome 1222649004
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 771448004
- Autism spectrum disorder, epilepsy, arthrogryposis syndrome 733623005
- Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome 1222681008
- Autoimmune lymphoproliferative syndrome with recurrent viral infection 722290008
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 829973009
- Autosomal recessive agammaglobulinemia 1297036006
- Autosomal recessive amelia 726735000
- Autosomal recessive amyotrophic lateral sclerosis type 1 1197524007
- Autosomal recessive asexual dwarfism 17192009
- Autosomal recessive ataxia due to ubiquinone deficiency 725394006
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect 1187619001
- Autosomal recessive axonal neuropathy with neuromyotonia 711406009
- Autosomal recessive bestrophinopathy 723828008
- Autosomal recessive bilateral optic atrophy 1156823006
- Autosomal recessive brachyolmia 783789002
- Autosomal recessive central core disease 1201862006
- Autosomal recessive cerebellar ataxia Beauce type 725433003
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency 782719004
- Autosomal recessive cerebellar ataxia with late-onset spasticity 763348005
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 715366004
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 725408001
- Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome 766814006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency 782721009
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
- Autosomal recessive cerebellar ataxia, psychomotor delay syndrome 783060009
- Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome 763312008
- Autosomal recessive cerebelloparenchymal disorder type 3 715369006
- Autosomal recessive cerebral atrophy 776087007
- Autosomal recessive Charcot-Marie-Tooth disease type 2 1156852009
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208414002
- Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation 1202025005
- Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation 1208417009
- Autosomal recessive congenital methemoglobinemia 767497003
- Autosomal recessive distal hereditary motor neuropathy 1156850001
- Autosomal recessive distal osteolysis syndrome 715487005
- Autosomal recessive dysgenesis of anterior segment of eye 1197358003
- Autosomal recessive dyskeratosis congenita 707272006
- Autosomal recessive Emery-Dreifuss muscular dystrophy 1156848009
- Autosomal recessive epidermolysis bullosa simplex 1156849001
- Autosomal recessive extra-oral halitosis 1269235004
- Autosomal recessive facio-digito-genital syndrome 725434009
- Autosomal recessive familial isolated hypoparathyroidism 1217517004
- Autosomal recessive familial Parkinson disease 1156822001
- Autosomal recessive familial wooly hair 403795009
- Autosomal recessive frontotemporal pachygyria 773394007
- Autosomal recessive hereditary spastic paraplegia 1187279003
- Autosomal recessive hyperimmunoglobulin M syndrome 403836001
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 783768006
- Autosomal recessive hyperinsulinism due to SUR1 deficiency 783767001
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 27025001
- Autosomal recessive hypophosphatemic bone disease 237891005
- Autosomal recessive ichthyosis 402772005
- Autosomal recessive idiopathic familial dystonia 230320008
- Autosomal recessive infantile hypercalcemia 771445001
- Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome 770901001
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 773308001
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 773330000
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 773414009
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D 1187567002
- Autosomal recessive isolated optic atrophy 1197151003
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy 1222704008
- Autosomal recessive lower motor neuron disease with childhood onset 771302009
- Autosomal recessive lymphoproliferative disease 771309000
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation 1172892009
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency 725431001
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency 725432008
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency 1279842008
- Autosomal recessive muscular dystrophy not predominantly limb girdle 240073000
- Autosomal recessive muscular dystrophy with limb girdle distribution 240054004
- Autosomal recessive myogenic arthrogryposis multiplex congenita 764812008
- Autosomal recessive nail dysplasia 782878007
- Autosomal recessive ocular albinism 78921008
- Autosomal recessive omodysplasia 725166005
- Autosomal recessive optic atrophy type 6 838345001
- Autosomal recessive optic atrophy type 7 783065004
- Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome 719104003
- Autosomal recessive popliteal pterygium syndrome 722376008
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 1197366007
- Autosomal recessive primary microcephaly 715981004
- Autosomal recessive progressive external ophthalmoplegia 827117008
- Autosomal recessive pseudoxanthoma elasticum 403812000
- Autosomal recessive retinitis pigmentosa 232053004
- Autosomal recessive Robinow syndrome 890237005
- Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009
- Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene 783766005
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 783201001
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 783200000
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 783058007
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 783199003
- Autosomal recessive sick sinus syndrome 1156821008
- Autosomal recessive sideroblastic anemia 717050005
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay 702445005
- Autosomal recessive spastic ataxia with leukoencephalopathy 784343003
- Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome 784347002
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006
- Autosomal recessive spondylometaphyseal dysplasia Megarbane type 782782004
- Axial spondylometaphyseal dysplasia 771301002
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 1251499005
- Baller-Gerold syndrome 77608001
- Bamforth Lazarus syndrome 722375007
- Bardet-Biedl syndrome 5619004
- Bartter syndrome 707742001
- Basel Vanagaite Smirin Yosef syndrome 1187644009
- Beemer Ertbruggen syndrome 717859007
- Benign ethnic neutropenia 1156300000
- Benign intrahepatic cholestasis type 1 838305005
- Benign Samaritan congenital myopathy 770787005
- Beta-aminoisobutyric aciduria 21529005
- Beta-D-mannosidosis 238047006
- Beta-mercaptolactate cysteine disulfiduria 784373007
- Bietti's crystalline retinopathy 312927001
- Bilateral frontoparietal polymicrogyria 890286007
- Bilateral microtia with deafness and cleft palate syndrome 717909004
- Biotin-(propionyl-CoA-carboxylase) ligase deficiency 15307001 removed: 2020-07-31
- Biotin-thiamine-responsive basal ganglia disease 703522009
- Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency 725105006
- Blepharophimosis, intellectual disability syndrome, Verloes type 778009001
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome 717914000
- Blomstrand dysplasia 389237009
- BNAR syndrome 717940006
- Bone dysplasia lethal Holmgren type 732249002
- Bosley Salih Alorainy syndrome 720567008
- Bothnia retinal dystrophy 715647007
- Boucher Neuhäuser syndrome 715984007
- Bowen-Conradi syndrome 711153001
- Brachydactyly syndrome type B 389168002
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Brachyolmia - Maroteaux type 389165004
- Braddock syndrome 720575002
- Bradyopsia 711163009
- Brain calcification Rajab type 720576001
- Brain dopamine-serotonin vesicular transport disease 717942003
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome 732961003
- Brittle cornea syndrome 719096006
- Brody myopathy 703530005
- Brown-Vialetto-Van Laere syndrome 699866005
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004
- CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 1237417007
- CAMOS syndrome 726031001
- Campomelia Cumming type 720599002
- Camptodactyly syndrome Guadalajara type 1 720602007
- Camptodactyly syndrome Guadalajara type 2 720603002
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome 720600004
- Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome 771187008
- Carbamoyl-phosphate synthetase 1 deficiency 765329008
- Carbohydrate deficient glycoprotein syndrome type 1m 718712005
- Carbohydrate deficient glycoprotein syndrome type 1o 725044000
- Carbohydrate deficient glycoprotein syndrome type 2a 724142005
- Carbohydrate deficient glycoprotein syndrome type 2d 725587007
- Carbohydrate deficient glycoprotein syndrome type 2k 732252005
- Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency 733450008
- Cardiomyopathy with cataract and hip spine disease syndrome 720609003
- Caroli syndrome 1237346001
- Cataract, congenital heart disease, neural tube defect syndrome 726704006
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Catel Manzke syndrome 722383001
- CCDC115 congenital disorder of glycosylation 1187174002
- CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome 1186720006
- Cenani Lenz syndrome 720633009
- Cerebellar ataxia and ectodermal dysplasia 715371006
- Cerebellar ataxia Cayman type 717332007
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1236804009
- Cerebellar ataxia with oculomotor apraxia type 4 1217230002
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebellar-facial-dental syndrome 1237475006
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 703219008
- Cerebral folate transport deficiency 711403001
- Cerebral ventriculomegaly, cystic kidney disease 1216942009
- Cerebro-facio-thoracic dysplasia 720635002
- Cerebrofacioarticular syndrome 763353000
- Cerebroretinal microangiopathy with calcifications and cysts 711482008
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- Charcot-Marie-Tooth disease type 4 715795005
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- Charcot-Marie-Tooth Neuropathy Type 4 67661000119100
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 773668008
- Childhood hypophosphatasia 30174008
- Childhood myocerebrohepatopathy spectrum 702366001
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 785301002
- Childhood-onset basal ganglia degeneration syndrome 1172584005
- Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome 1187251009
- Childhood-onset spasticity with hyperglycinemia 773492007
- Chitty Hall Baraitser syndrome 716238003
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome 720640005
- Cholestanol storage disease 63246000
- Cholestasis-edema syndrome, Norwegian type 28724005
- Chondrodysplasia punctata Toriello type 715631005
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Chondrodysplasia with joint dislocations gPAPP type 782882009
- Chorea acanthocytosis syndrome 26848004
- Chronic atrial and intestinal dysrhythmia 720507006
- Chronic enteropathy associated with SLCO2A1 gene 1187194006
- Chudley McCullough syndrome 773610007
- Chuvash erythrocytosis 770407006
- Chylomicron retention disease 702364003
- CIDEC-related familial partial lipodystrophy 1197749008
- Citrin deficiency 429735007
- Citrullinemia type I 1149103000
- Classical pantothenate kinase associated neurodegeneration 1186861004
- Classical-like Ehlers-Danlos syndrome type 1 778022009
- Classical-like Ehlers-Danlos syndrome type 2 1255121003
- CLCN2-related leukoencephalopathy 768663003
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome 719456001
- Cleft palate with stapes fixation and oligodontia syndrome 719468005
- Cloverleaf skull with multiple congenital anomalies syndrome 717771007
- CNTNAP2-related developmental and epileptic encephalopathy 1230376005
- Cobblestone lissencephaly without muscular or ocular involvement 785299009
- CODAS syndrome 717772000
- Coenzyme A synthase protein associated neurodegeneration 732264002
- Coenzyme Q10 deficiency 724575009
- COG1 congenital disorder of glycosylation 718750004
- COG2-related congenital disorder of glycosylation 1197753005
- COG4 congenital disorder of glycosylation 718751000
- COG5 congenital disorder of glycosylation 721100009
- COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation 1220574003
- COG7 congenital disorder of glycosylation 717773005
- COG8 congenital disorder of glycosylation 717774004
- Cohen syndrome 56604005
- Cold-induced sweating syndrome 702363009
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome 1197357008
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria 713401006
- Combined deficiency of factor V and factor VIII 715559004
- Combined immunodeficiency due to CARMIL2 deficiency 1186712009
- Combined immunodeficiency due to CD70 deficiency 1186715006
- Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction 717811007
- Combined immunodeficiency due to DOCK8 deficiency 1197205005
- Combined immunodeficiency due to GINS1 deficiency 1179286007
- Combined immunodeficiency due to interleukin 21 receptor deficiency 784340000
- Combined immunodeficiency due to ITK deficiency 1186714005
- Combined immunodeficiency due to LRBA deficiency 1197477000
- Combined immunodeficiency due to MALT1 deficiency 773488000
- Combined immunodeficiency due to OX40 deficiency 766879006
- Combined immunodeficiency due to STK4 deficiency 771479000
- Combined immunodeficiency due to TFRC deficiency 1179288008
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Combined immunodeficiency, enteropathy spectrum 1197428008
- Combined oxidative phosphorylation defect type 11 783558004
- Combined oxidative phosphorylation defect type 13 763110007
- Combined oxidative phosphorylation defect type 14 778065005
- Combined oxidative phosphorylation defect type 15 763203009
- Combined oxidative phosphorylation defect type 17 775908005
- Combined oxidative phosphorylation defect type 2 764943000
- Combined oxidative phosphorylation defect type 21 763211004
- Combined oxidative phosphorylation defect type 23 1173036000
- Combined oxidative phosphorylation defect type 24 1222680009
- Combined oxidative phosphorylation defect type 25 1173035001
- Combined oxidative phosphorylation defect type 26 1173034002
- Combined oxidative phosphorylation defect type 27 1172844009
- Combined oxidative phosphorylation defect type 28 1187640000
- Combined oxidative phosphorylation defect type 29 1172843003
- Combined oxidative phosphorylation defect type 30 1172841001
- Combined oxidative phosphorylation defect type 39 1279845005
- Combined oxidative phosphorylation defect type 4 766876004
- Combined oxidative phosphorylation defect type 5 724279004
- Combined oxidative phosphorylation defect type 7 763204003
- Combined oxidative phosphorylation defect type 8 733600007
- Combined oxidative phosphorylation defect type 9 763209008
- Combined oxidative phosphorylation deficiency type 20 783178001
- Complement component 3 deficiency 771443008
- Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome 1279887007
- Complex lethal osteochondrodysplasia 1228858000
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Cone dystrophy with supernormal rod response 719455002
- Congenital adrenal hyperplasia 237751000
- Congenital alpha-2-antiplasmin deficiency 716746003
- Congenital amegakaryocytic thrombocytopenia 716336002
- Congenital analbuminemia 718721006
- Congenital autosomal recessive small-platelet thrombocytopenia 1208617001
- Congenital axonal neuropathy with encephalopathy 1237626001
- Congenital bile acid synthesis defect type 3 719454003
- Congenital cataract microcornea with corneal opacity 1279837000
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital cataracts, facial dysmorphism and neuropathy 702433001
- Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 725462002
- Congenital cerebellar ataxia due to RNU12 mutation 1177169004
- Congenital chronic diarrhea with protein-losing enteropathy 773579007
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital deficiency of alpha-fetoprotein 716698007
- Congenital disorder of glycosylation type 1c 709412006
- Congenital disorder of glycosylation type 1e 725078006
- Congenital disorder of glycosylation type 1f 724096007
- Congenital disorder of glycosylation type 1i 897592003
- Congenital disorder of glycosylation type 1j 725079003
- Congenital disorder of glycosylation type 1n 733084000
- Congenital disorder of glycosylation type 1p 733085004
- Congenital disorder of glycosylation type 1q 733601006
- Congenital disorder of glycosylation type 1r 733083006
- Congenital disorder of glycosylation type 1w 733111000
- Congenital disorder of glycosylation type 1x 733112007
- Congenital disorder of glycosylation type Ia 459063003
- Congenital dyserythropoietic anemia, type I 59548005
- Congenital dyserythropoietic anemia, type II 68870007
- Congenital fiber-type disproportion myopathy due to ZAK mutation 1201964008
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004
- Congenital hereditary endothelial dystrophy type 2 417395001
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital hypoplasia of ulna and intellectual disability syndrome 719842006
- Congenital insensitivity to pain with severe intellectual disability 1237623009
- Congenital insensitivity to pain, anosmia, neuropathic arthropathy 1279831004
- Congenital intrauterine infection-like syndrome 722390006
- Congenital isolated adrenocorticotropic hormone deficiency 1231283007
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital lactase deficiency 5388008
- Congenital leptin deficiency 700150001
- Congenital lethal erythroderma 722391005
- Congenital lethal myopathy Compton North type 773306002
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 722392003
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Congenital muscular dystrophy Paradas type 725420009
- Congenital muscular dystrophy type 1A 787037000
- Congenital muscular dystrophy type 1B 764944006
- Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation 890368007
- Congenital muscular dystrophy type 1D large gene mutation 890395002
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
- Congenital muscular dystrophy with integrin alpha-7 deficiency 771267003
- Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000
- Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome 1172688004
- Congenital myopathy with myasthenic-like onset 763315005
- Congenital myopathy with reduced type 2 muscle fibers 1255274002
- Congenital myotonia, autosomal recessive form 20305008
- Congenital nephrotic syndrome 48796009
- Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome 733453005
- Congenital neuronal ceroid lipofuscinosis 720830009
- Congenital neutropenia, myelofibrosis, nephromegaly syndrome 775909002
- Congenital plasminogen activator inhibitor deficiency type 1 717407006
- Congenital pontocerebellar hypoplasia type 1 718610008
- Congenital pontocerebellar hypoplasia type 10 782720005
- Congenital pontocerebellar hypoplasia type 2 715463008
- Congenital pontocerebellar hypoplasia type 3 718609003
- Congenital pontocerebellar hypoplasia type 4 718608006
- Congenital pontocerebellar hypoplasia type 5 718607001
- Congenital pontocerebellar hypoplasia type 6 718606005
- Congenital pontocerebellar hypoplasia type 7 718605009
- Congenital pontocerebellar hypoplasia type 8 718611007
- Congenital pontocerebellar hypoplasia type 9 775907000
- Congenital secretory diarrhea, chloride type 24412005
- Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005
- Congenital transferrin deficiency 234353009
- Congenital vertebral, cardiac, renal anomalies syndrome 1260142000
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency 763318007
- Cono-spondylar dysplasia 766874001
- Constitutional mismatch repair deficiency syndrome 764946008
- Cooper Jabs syndrome 720748007
- Corneal cerebellar syndrome 720750004
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Craniodiaphyseal dysplasia 205506004
- Craniofacial dysplasia osteopenia syndrome 773622005
- Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
- Craniofacial dyssynostosis syndrome 720755009
- Craniofacial ulnar renal syndrome 720756005
- Craniolenticulosutural dysplasia 725100001
- Craniometadiaphyseal dysplasia wormian bone type 725099009
- Craniomicromelic syndrome 725098001
- Cranioosteoarthropathy 720753002
- Craniosynostosis and dental anomalies syndrome 773332008
- Craniosynostosis and intracranial calcification syndrome 720816004
- Craniosynostosis fibular aplasia syndrome 732250002
- Craniosynostosis, anal anomaly, porokeratosis syndrome 720812002
- Crigler-Najjar syndrome, type I 8933000
- Crome syndrome 722381004
- Cryptophthalmos syndrome 204102004
- Curry-Hall syndrome 277807007
- Cutaneous photosensitivity and lethal colitis syndrome 720820000
- Cutis laxa, autosomal recessive 59451000
- Cystathionine beta-synthase deficiency 24308003
- Cystathioninuria 13003007
- Cystic fibrosis 190905008
- Cystic leukoencephalopathy without megalencephaly 720825005
- Cystinosis 190681003
- Cystinuria, type 1 37183000
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 1172901009
- Dandy-Walker malformation with postaxial polydactyly syndrome 733094005
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness and myopia syndrome 720506002
- Deafness and oligodontia syndrome 715527006
- Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 763688008
- Deafness, small bowel diverticulosis, neuropathy syndrome 733071009
- Deafness, vitiligo, achalasia syndrome 733069009
- Defect of purinergic receptor p2y G protein-coupled 12 725291001
- Deficiency of alpha-ketoglutarate dehydrogenase 733630004
- Deficiency of aminoacylase 1 709282004
- Deficiency of AMP pyrophorylase 124274002
- Deficiency of dimethylglycine dehydrogenase 719449007
- Deficiency of galactokinase 124302001
- Deficiency of galactose mutarotase 1187616008
- Deficiency of glucosyltransferase 1 712641002
- Deficiency of histidine ammonia-lyase 124628005
- Deficiency of hydroxymethylglutaryl-CoA lyase 124611007
- Deficiency of interleukin 36 receptor antagonist 784339002
- Deficiency of leukotriene C4 synthase 717185008
- Deficiency of methylmalonyl-CoA mutase 124680001
- Deficiency of phosphomannomutase 2 712640001
- Deficiency of Xaa-Pro dipeptidase 360994007
- Delta-4-3-oxosteroid-5-beta-reductase deficiency 238035000
- Dense deposit disease 722760002
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Dermatoleukodystrophy 733044009
- Dermatoosteolysis Kirghizian type 721090002
- Dermatosparaxis Ehlers-Danlos syndrome 1237225007
- Desbuquois syndrome 254099008
- Desmosterolosis 709490002
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 782828005
- Developmental delay with autism spectrum disorder and gait instability 770790004
- Diaphanospondylodysostosis 721094006
- Diaphragmatic defect, limb deficiency, skull defect syndrome 721095007
- Diastrophic dysplasia 58561002
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 783741006
- Dicarboxylic aminoaciduria syndrome 716747007
- Diencephalic mesencephalic junction dysplasia 766871009
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome 782737003
- Diffuse mesangial sclerosis with ocular abnormalities 236528009
- Digital extensor muscle aplasia with polyneuropathy 771261002
- Dihydropyrimidine dehydrogenase deficiency 77365006
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome 719451006
- Distal anoctaminopathy 783166000
- Distal arthrogryposis type 5D 773396009
- Distal limb deficiency with micrognathia syndrome 722429003
- Distal muscular dystrophy, Miyoshi type 111506000
- Distal myopathy with anterior tibial onset 782675008
- DK phocomelia syndrome 719021005
- DOCK2 deficiency 1197479002
- Donnai-Barrow syndrome 702418009
- DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
- DOORS syndrome 719800009
- Dopamine transporter deficiency syndrome 722763000
- Double heterozygous familial hypercholesterolemia 767133009
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Dubin-Johnson syndrome 44553005
- Duplication of eyebrow and syndactyly syndrome 733070005
- Dyggve-Melchior-Clausen syndrome 82699004
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Dyssegmental dysplasia Silverman Handmaker type 765204000
- Dystonia 16 722435003
- Ear, patella, short stature syndrome 703508009
- Early onset myopathy with fatal cardiomyopathy 702343002
- Early-onset calcifying leukoencephalopathy, skeletal dysplasia 1222661007
- Early-onset epilepsy, intellectual disability, brain anomalies syndrome 1172627007
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008
- Early-onset Lafora body disease 733082001
- Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome 1236844002
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006
- Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome 1172588008
- Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002
- Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
- Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome 771469002
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ectodermal dysplasia syndactyly syndrome 771335004
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
- Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome 1279835008
- Ectopia lentis, chorioretinal dystrophy, myopia syndrome 722437006
- Ectrodactyly polydactyly syndrome 771177009
- Ehlers-Danlos syndrome cardiac valvular type 720858001
- Ehlers-Danlos syndrome kyphoscoliotic type 718211004
- Ehlers-Danlos syndrome musculocontractural type 720860004
- Ehlers-Danlos syndrome progeroid type 720861000
- Ehlers-Danlos syndrome spondylocheirodysplastic type 773276004
- Eiken syndrome 720863002
- Enamel-renal syndrome 109477002
- Encephalopathy due to prosaposin deficiency 720864008
- Encephalopathy due to sulfite oxidase deficiency 715980003
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Endosteal hyperostoses with cerebellar hypoplasia 254132000
- Eosinophil peroxidase deficiency 711160007
- Epidermodysplasia verruciformis 19138001
- Epilepsy telangiectasia syndrome 733032006
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epileptic encephalopathy with global cerebral demyelination 726702005
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004
- Erythropoietic uroporphyria associated with myeloid malignancy 783615009
- Essential benign fructosuria 40278002
- Essential pentosuria 190764000
- Ethanolaminosis 64235006
- Ethylmalonic encephalopathy 723307008
- EVEN-plus syndrome 1260203008
- Eye defects, arachnodactyly, cardiopathy syndrome 1208342001
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome 770728003
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Faciocardiorenal syndrome 723333000
- FADD-related immunodeficiency 723334006
- Fallot complex with intellectual disability and growth delay syndrome 723336008
- Familial acantholysis 77759009
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial angiolipomatosis 774066000
- Familial benign flecked retina 770434009
- Familial C3B inhibitor deficiency syndrome 39674000
- Familial chylomicronemia syndrome 1197489003
- Familial congenital nasolacrimal duct obstruction 1230016009
- Familial erythrocytosis due to diphosphoglycerate mutase deficiency 127065001
- Familial gastric type 1 neuroendocrine neoplasm 1264340007
- Familial glucocorticoid deficiency 765326001
- Familial hemophagocytic lymphohistiocytosis 398250003
- Familial hypercholanemia 723360007
- Familial hypertryptophanemia 721838005
- Familial hypoaldosteronism 715343000
- Familial hypokalemic alkalosis, Gullner type 81987005
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement 717787005
- Familial infantile myoclonic epilepsy 784342008
- Familial isolated trichomegaly 764523004
- Familial median cleft of upper and lower lip 718552009
- Familial mesial temporal lobe epilepsy with febrile seizures 784372002
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 725033008
- Familial pulmonary capillary hemangiomatosis 234161007
- Familial renal iminoglycinuria 75652008
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency 1187040004
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness 783614008
- Fanconi anemia of complementation group C 1285021005
- FASTKD2-related infantile mitochondrial encephalomyopathy 778029000
- Fatal infantile hypertonic myofibrillar myopathy 782883004
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 720951008
- Fatal post-viral neurodegenerative disorder 774206008
- Fatty acid hydroxylase associated neurodegeneration 702419001
- Fatty acid oxidation defect 1156591005
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
- Fetal encasement syndrome 1220575002
- Fever-associated acute infantile liver failure syndrome 1208726006
- Fibular aplasia and complex brachydactyly 715474004
- Filippi syndrome 720954000
- Fine Lubinsky syndrome 720955004
- Fish-eye disease 238092004
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Focal facial dermal dysplasia type IV 789161001
- Fountain syndrome 720957007
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome 782754006
- Francois syndrome 254150007
- Frank-Ter Haar syndrome 720958002
- Friedreich ataxia 10394003
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 773628009
- Frontorhiny 1230021007
- Fructose-biphosphatase deficiency 28183005
- Fryns syndrome 702432006
- Fucosidosis 64716005
- Fuhrmann syndrome 721296004
- Galactose epimerase deficiency 8849004
- Galactosylceramide beta-galactosidase deficiency 192782005
- Galactosylceramide lipidosis 189979005
- Galloway Mowat syndrome 721297008
- Gamma-glutamyl transpeptidase deficiency 78586005
- GAPO syndrome 721843003
- Gaucher disease with ophthalmoplegia and cardiovascular calcification 1156813002
- GCGR-related hyperglucagonemia 1228875006
- Gelatinous droplike corneal dystrophy 419900000
- Gemignani syndrome 782690007
- Generalized congenital lipodystrophy with myopathy 1156814008
- Genitopalatocardiac syndrome 773749003
- German syndrome 733037000
- Geroderma osteodysplastica 254116003
- Ghosal hematodiaphyseal dysplasia 389214003
- Giacci familial neurogenic acroosteolysis 389275009
- Giant axonal neuropathy 128207002
- Gingival fibromatosis with facial dysmorphism syndrome 719687007
- Gitelman syndrome 707756004
- Glucocorticoid deficiency with achalasia 45414006
- Glutamate formiminotransferase deficiency 59761008
- Glutamate-cysteine ligase deficiency 36799008
- Glutaric aciduria, type 2 22886006
- Glutathione synthetase deficiency 234589002
- Glycine dehydrogenase (decarboxylating) deficiency 63329001
- Glycogen storage disease due to acid maltase deficiency 274864009
- Glycogen storage disease due to aldolase A deficiency 1187461004
- Glycogen storage disease due to lactate dehydrogenase deficiency 1186809004
- Glycogen storage disease due to muscle beta-enolase deficiency 1162916008
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 717821004
- Glycogen storage disease, type I 7265005
- Glycogen storage disease, type VI 29291001
- GM1 gangliosidosis 238025006
- GM3 synthase deficiency 722762005
- GNB5-related intellectual disability, cardiac arrhythmia syndrome 1186711002
- Goldberg Shprintzen megacolon syndrome 717822006
- Goldblatt Wallis syndrome 716096005
- Goldmann-Favre syndrome 232065000
- Gollop syndrome 716022002
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004
- Gorlin-Chaudhry-Moss syndrome 205800003
- GRACILE syndrome 703388005
- Grebe syndrome 77542002
- Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome 774205007
- Growth delay due to insulin-like growth factor type 1 deficiency 724385009
- Growth delay, intellectual disability, hepatopathy syndrome 1186713004
- Growth retardation, mild developmental delay, chronic hepatitis syndrome 774204006
- Grubben, De Cock, Borghgraef syndrome 763186006
- Haim Munk syndrome 719973009
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hall Riggs syndrome 721008000
- Hallux varus, preaxial polysyndactyly syndrome 771180005
- Heart defect and limb shortening syndrome 721009008
- HELIX syndrome 1217380005
- Heme oxygenase-1 deficiency 1230003009
- Hemochromatosis type 1 1186847009
- Hemochromatosis type 3 719974003
- Hemoglobin Bart's hydrops syndrome 5300004
- Hemoglobin C beta thalassemia 1148910003
- Hemoglobin E/beta thalassemia disease 234392002
- Hemolytic anemia due to adenylate kinase deficiency 766982000
- Hennekam Beemer syndrome 722453009
- Hennekam syndrome 234146006
- Hepatic glycogen synthase deficiency 725026008
- Hepatic lipase deficiency 720940008
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 764962002
- Hereditary acrodermatitis enteropathica 37702000
- Hereditary adrenal unresponsiveness to corticotropin 71974009
- Hereditary arterial and articular multiple calcification syndrome 718602007
- Hereditary butyrylcholinesterase deficiency 1296959007
- Hereditary combined deficiency of vitamin K-dependent clotting factors 724356003
- Hereditary congenital prekallikrein deficiency 1162804003
- Hereditary dysautonomia with motor neuropathy 230557001
- Hereditary factor X deficiency disease 37350004
- Hereditary factor XI deficiency disease 49762007
- Hereditary factor XII deficiency disease 43217004
- Hereditary fructosuria 20052008
- Hereditary hypotrichosis with recurrent skin vesicles syndrome 724350009
- Hereditary motor and sensory neuropathy with acrodystrophy 771144005
- Hereditary palmoplantar keratoderma Gamborg Nielsen type 717228004
- Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome 783254003
- Hereditary sensory and autonomic neuropathy type 6 1279838005
- Hereditary sensory and autonomic neuropathy type 8 1172838005
- Hereditary sensory and autonomic neuropathy with deafness and global delay 717826009
- Hereditary sensory autonomic neuropathy type IIA 860809000
- Hereditary sensory autonomic neuropathy type IIB 860810005
- Hereditary sensory autonomic neuropathy type IIC 1254941001
- Hereditary von Willebrand disease type 2N 359732009
- Hereditary von Willebrand disease type 3 128108002
- Hereditary xanthinuria 54627004
- Hidrotic ectodermal dysplasia Halal type 721147000
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Histidine ammonia-lyase deficiency 68458004 removed: 2004-07-31
- Histiocytosis-lymphadenopathy plus syndrome 711159002
- HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency 74703006
- HNSHA due to diphosphoglycerate mutase deficiency 62268000
- HNSHA due to glucose phosphate isomerase deficiency 52413004
- HNSHA due to glutathione reductase deficiency 52212006
- HNSHA due to glutathione synthetase deficiency 111579006
- HNSHA due to pyrimidine-5'-nucleotidase deficiency 34194007
- Holoprosencephaly and postaxial polydactyly syndrome 716091000
- Holzgreve syndrome 783159001
- Homocystinuria without methylmalonic aciduria 721225009
- Homogentisate 1,2-dioxygenase deficiency 360378009
- Horizontal gaze palsy with progressive scoliosis 702381007
- Huntington disease-like 3 770939009
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hydrolethalus syndrome 721232000
- Hydroxymethylglutaryl-CoA lyase deficiency 72538006 removed: 2004-07-31
- Hyperammonemia, type III 57119000
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 724344004
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hyperimmunoglobulin E syndrome 50926003
- Hyperimmunoglobulinemia D with periodic fever 403834003
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 721236002
- Hypermanganesemia with dystonia 768553002
- Hypermethioninemia due to deficiency of glycine N-methyltransferase 763720007
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase 763721006
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008
- Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000
- Hyperphosphatasemia with mental retardation 33982008
- Hyperprolinemia type 2 717181004
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome 718713000
- Hypertyrosinemia, Richner-Hanhart type 4887000
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 776416004
- Hypervalinemia 47719001
- Hypochromic microcytic anemia with iron overload 711161006
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 773553003
- Hypomagnesemia with secondary hypocalcemia 711151004
- Hypomandibular faciocranial dysostosis 721845005
- Hypomyelination and congenital cataract 702379005
- Hypomyelination neuropathy arthrogryposis syndrome 766931003
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity 777999008
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Hypotonia, speech impairment, severe cognitive delay syndrome 763722004
- Hypotrichosis and intellectual disability syndrome Lopes type 723365002
- Hypotrichosis with juvenile macular degeneration syndrome 723364003
- I-cell disease 70199000
- IL21-related infantile inflammatory bowel disease 1173999006
- Illum syndrome 720514008
- Immotile cilia syndrome 86204009
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome 771333006
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome 1186654001
- Immunodeficiency due to CD25 deficiency 778028008
- Immunodeficiency with factor I anomaly 783621008
- Inclusion body myopathy 2 702382000
- Infantile cerebellar and retinal degeneration 782822006
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 770725000
- Infantile choroidocerebral calcification syndrome 724228005
- Infantile glycine encephalopathy 1156826003
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 771513008
- Infantile hypophosphatasia 55236002
- Infantile inflammatory bowel disease with neurological involvement 1186721005
- Infantile malignant osteopetrosis 367489004
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Infantile onset spinocerebellar ataxia 724227000
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009
- Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome 782886007
- Infantile systemic hyalinosis 238867003
- Infantile-onset autosomal recessive non progressive cerebellar ataxia 785300001
- Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome 1260129000
- Infantile-onset generalized dyskinesia with orofacial involvement 1172603005
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 773421009
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 764960005
- Intellectual disability Buenos Aires type 725906006
- Intellectual disability with strabismus syndrome 773405004
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
- Intellectual disability, epilepsy, bulbous nose syndrome 721146009
- Intellectual disability, epilepsy, extrapyramidal syndrome 1187210007
- Intellectual disability, facial dysmorphism, hand anomalies syndrome 773416006
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome 787174003
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome 773621003
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome 763350002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Interleukin-1 receptor-associated kinase 4 deficiency 699869003
- Interstitial lung disease due to ABCA3 deficiency 1222678003
- Intestinal enteropeptidase deficiency 56661000
- Intestinal epithelial dysplasia 715669000
- Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency 733447005
- Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome 1177178005
- Iodotyrosine deiodination defect 17885001
- Iron-refractory iron deficiency anemia 722005000
- Isolated ATP synthase deficiency 780820008
- Isolated follicle stimulating hormone deficiency 758664007
- Isolated generalized anhidrosis with normal sweat glands 1187178004
- Isolated hyperchlorhidrosis 709413001
- Isolated neonatal sclerosing cholangitis 1220580006
- Isolated right ventricular hypoplasia 718135001
- Isolated xanthine oxidase deficiency 72682008 removed: 2023-04-30
- Isomerism of right atrial appendage 253336000
- Isovaleryl-CoA dehydrogenase deficiency 87827003
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005
- Jarcho-Levin syndrome 61367005
- Jawad syndrome 771470001
- Jervell and Lange-Nielsen syndrome 373905003
- Jeune thoracic dystrophy 75049004
- Joubert syndrome 716997004
- Junctional epidermolysis bullosa 399971009
- Juvenile amyotrophic lateral sclerosis 718555006
- Juvenile hemochromatosis 50855007
- Juvenile hyaline fibromatosis 238861002
- Juvenile primary lateral sclerosis 717964007
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- Kallman syndrome with heart disease 722027009
- Kandori fleck retina syndrome 765191009
- Kapur Toriello syndrome 722031003
- Karyomegalic interstitial nephritis 782738008
- Keutel syndrome 724208006
- Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001
- Kostmann syndrome 770942003
- Kufor Rakeb syndrome 723992000
- Kuskokwim syndrome 702447002
- Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome 1172591008
- LAMB2-related infantile-onset nephrotic syndrome 771447009
- Laron syndrome with immunodeficiency 724179008
- Laron-type isolated somatotropin defect 38196001
- Larsen-like syndrome B3GAT3 type 763778003
- Lathosterolosis 719257008
- Laurence-Moon syndrome 232059000
- Lelis syndrome 719429003
- Leprechaunism syndrome 111307005
- Lethal arteriopathy syndrome due to fibulin-4 deficiency 782773005
- Lethal arthrogryposis with anterior horn cell disease 715565004
- Lethal brain and heart developmental defects syndrome 1229876001
- Lethal congenital contracture syndrome type 1 715418007
- Lethal congenital contracture syndrome type 2 715419004
- Lethal congenital contracture syndrome type 3 715420005
- Lethal congenital contracture syndrome type 5 763346009
- Lethal faciocardiomelic dysplasia 719400000
- Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome 1237470001
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 1237342004
- Lethal Kniest-like syndrome 93132001
- Lethal Larsen-like syndrome 719409004
- Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002
- Lethal multiple pterygium syndrome 60192008
- Lethal neonatal spasticity, epileptic encephalopathy syndrome 1197587003
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- Lethal omphalocele with cleft palate syndrome 719408007
- Lethal polymalformative syndrome Boissel type 778026007
- Lethal recessive chondrodysplasia 719404009
- Leukocyte adhesion deficiency 1187233008
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome 735421004
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 703537008
- Leukoencephalopathy with calcifications and cysts 1186710001
- Leukoencephalopathy, dystonia, motor neuropathy syndrome 733452000
- Leukoencephalopathy, palmoplantar keratoderma syndrome 771184001
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome 763366000
- Leydig cell agenesis 56212008
- Lichtenstein syndrome 763668009
- LIPE-related familial partial lipodystrophy 1197751007
- Lipid proteinosis 38692000
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lipoic acid synthetase deficiency 782744007
- Lipoprotein glomerulopathy 446923008
- Lipoyl transferase 1 deficiency 782745008
- Lissencephaly syndrome Norman Roberts type 717977003
- Lissencephaly type 3 familial fetal akinesia sequence syndrome 718719001
- Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007
- Lucey-Driscoll syndrome 47444008
- Lung agenesis with heart defect and thumb anomaly syndrome 721976003
- Lymphedema, atrial septal defect, facial changes syndrome 721978002
- Lymphedema, posterior choanal atresia syndrome 1204421005
- Lysosomal acid lipase deficiency 715923003
- MacDermot Winter syndrome 716023007
- Macrocephaly and developmental delay syndrome 763773007
- Macrosomia, microphthalmia, cleft palate syndrome 773282001
- Macular coloboma, cleft palate, hallux valgus syndrome 722463001
- Macular corneal dystrophy 60258001
- Majeed syndrome 703540008
- Malignant hyperthermia with arthrogryposis and torticollis syndrome 719398004
- Malonic aciduria 361203007
- Mandibuloacral dysostosis 109419009
- Manitoba oculotrichoanal syndrome 703539006
- Mannosephosphate isomerase congenital disorder of glycosylation 1231141008
- Mannosidosis 65524005
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation 725028009
- Maple syrup urine disease 27718001
- MARCH syndrome 1169358003
- Marden Walker syndrome 449824004
- Marfanoid habitus with autosomal recessive intellectual disability syndrome 733062000
- Marinesco-Sjögren syndrome 80734006
- Maroteaux-Lamy syndrome 69463008
- McKusick Kaufman syndrome 702407009
- Megaconial congenital muscular dystrophy 1230273004
- Megalencephalic leukoencephalopathy with subcortical cysts 703536004
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Megalocornea, spherophakia, secondary glaucoma syndrome 783246000
- Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency 716869006
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency 718230004
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency 721876004
- Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency 721877008
- Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency 723384004
- MEPAN syndrome 1236805005
- Mesoaxial synostotic syndactyly with phalangeal reduction syndrome 724170007
- Metachromatic leukodystrophy 396338004
- Metaphyseal chondrodysplasia, McKusick type 7720002
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Methylcrotonyl-CoA carboxylase deficiency 13144005
- Methylene THF reductase deficiency AND homocystinuria 28093001
- Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency 765137006
- Methylmalonic aciduria due to transcobalamin receptor defect 771444002
- Methylmalonyl-CoA mutase deficiency 28292003 removed: 2004-07-31
- Mevalonic aciduria 718558008
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic osteodysplastic dysplasia Saul Wilson type 723404002
- Microcephalic osteodysplastic primordial dwarfism type II 1208348002
- Microcephalic osteodysplastic primordial dwarfism types I and III 725461009
- Microcephalic primordial dwarfism Alazami type 770564004
- Microcephalic primordial dwarfism Dauber type 770565003
- Microcephalic primordial dwarfism due to ZNF335 deficiency 724141003
- Microcephalic primordial dwarfism Toriello type 715482004
- Microcephalic primordial dwarfism, insulin resistance syndrome 1220596009
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus with cardiac defect and lung malsegmentation syndrome 719379001
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Microcephalus, complex motor and sensory axonal neuropathy syndrome 763798008
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Microcephaly with cervical spine fusion anomaly 715462003
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome 1172683008
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome 721903007
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 771074000
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Microcephaly-capillary malformation syndrome 703369003
- Microcornea, myopic chorioretinal atrophy, telecanthus syndrome 774212003
- Microlissencephaly micromelia syndrome 723405001
- Microphthalmia with brain atrophy syndrome 720010009
- Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form 1231309005
- Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006
- Mitochondrial DNA depletion syndrome hepatocerebrorenal form 782771007
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 771478008
- Mitochondrial membrane protein associated neurodegeneration 709415008
- Mitochondrial myopathy with sideroblastic anemia syndrome 724138007
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007
- Mitochondrial phosphate carrier deficiency 1187515001
- Mitochondrial pyruvate carrier deficiency 1217212009
- Moderate steroid 21-hydroxylase deficiency 60045007
- Mohr syndrome 1779005
- MOMO syndrome 724137002
- MORM syndrome 715628009
- Morquio syndrome 378007
- Moyamoya disease with early onset achalasia 718551002
- Mucolipidosis type IV 725296006
- Mucopolysaccharidosis, MPS-I 75610003
- Mucopolysaccharidosis, MPS-VII 43916004
- Mucopolysaccharidosis-like plus disease 1187113001
- Multicentric osteolysis nodulosis arthropathy spectrum 716868003
- Multiple carboxylase deficiency 1172966001
- Multiple congenital anomalies, hypotonia, seizures syndrome 785303004
- Multiple epiphyseal dysplasia Al-Gazali type 719688002
- Multiple epiphyseal dysplasia type 4 715672007
- Multiple mitochondrial dysfunctions syndrome 720827002
- Multiple sulfatase deficiency 54898003
- Muscle AMP deaminase deficiency 9105005
- Muscle and heart glycogen synthase deficiency 725027004
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- Muscle phosphoglycerate mutase deficiency 61772003
- Muscle-eye-brain disease, congenital muscular dystrophy 111505001
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005
- Myoclonic epilepsy myopathy sensory ataxia 699328003
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme 699268002
- Myosclerosis 763895001
- NAD(P)HX dehydratase deficiency 1251446004
- NAD(P)HX epimerase deficiency 1251447008
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 764995008
- Nakajo-Nishimura syndrome 702449004
- Nathalie syndrome 716170005
- Native American myopathy 723439002
- Navajo neurohepatopathy 784346006
- NDE1-related microhydranencephaly 1237462006
- NEK9-related lethal skeletal dysplasia 1179299005
- Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome 724094005
- Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000
- Neonatal inflammatory skin and bowel disease 773662009
- Neonatal pseudo-hydrocephalic progeroid syndrome 238874008
- Nephronophthisis 204958008
- Nephropathy, deafness, hyperparathyroidism syndrome 724093004
- Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome 773647007
- Nestor Guillermo progeria syndrome 773331001
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- Neuroectodermal melanolysosomal disease 724091002
- Neurofaciodigitorenal syndrome 725908007
- Neurogenic arthrogryposis multiplex congenita 715316005
- Neuronal ceroid lipofuscinosis 8 703526007
- Neuronal ceroid lipofuscinosis type 6A 1296784002
- Neutral lipid storage disease with myopathy 699315005
- NGLY1-congenital disorder of deglycosylation 768846004
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome 771308008
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome 723442008
- Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy 1220598005
- NPHP3-related Meckel-like syndrome 773737004
- Obesity due to CEP19 deficiency 783549006
- Obesity due to leptin receptor gene deficiency 785722006
- Obesity due to prohormone convertase I deficiency 722053001
- Obesity due to SIM1 deficiency 783719006
- Occipital pachygyria and polymicrogyria 782879004
- Ocular motor apraxia Cogan type 405809000
- Oculoauricular syndrome Schorderet type 763815000
- Oculocerebral hypopigmentation syndrome of Preus type 716174001
- Oculocerebrodental syndrome 1255268002
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculocutaneous albinism 63844009
- Oculogastrointestinal muscular dystrophy 722060007
- Oculoosteocutaneous syndrome 722061006
- Oculopalatocerebral syndrome 722055008
- Odontohypophosphatasia 708672004
- Odontotrichomelic syndrome 239028001
- Oguchi's disease 193687000
- Oligohydramnios sequence 41962002
- Oliver McFarlane syndrome 719944006
- Oliver syndrome 721017000
- Ophthalmo-acromelic syndrome 703403003
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 9 718680001
- Orofacial-digital syndrome III 239030004
- Orofacial-digital syndrome IV 239031000
- Orotic aciduria 47641009
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Osteopetrosis hypogammaglobulinemia syndrome 773730002
- Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001
- Osteosclerotic metaphyseal dysplasia 1237513008
- Oto-onycho-peroneal syndrome 441944007
- Otospondylomegaepiphyseal dysplasia 254060000
- OTULIN-related autoinflammatory syndrome 765435009
- Pachydermoperiostosis syndrome 88220006
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- Pacman dysplasia 722127006
- Palmoplantar keratoderma Nagashima type 722205008
- Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 722202006
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Pancreatic triacylglycerol lipase deficiency 78960005
- Pancytopenia with developmental delay syndrome 774071007
- Papillon-Lefèvre syndrome 40158001
- Papuloverrucous palmoplantar keratoderma of Jakac-Wolf 239078004
- Parana hard skin syndrome 783013001
- Parkinsonian pyramidal syndrome 783012006
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001
- Partial pancreatic agenesis 719044008
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Pelizaeus Merzbacher like disease 717042001
- Pelviscapular dysplasia 719299009
- Pena-Shokeir syndrome type I 401138005
- Pendred's syndrome 70348004
- Perinatal lethal Gaucher disease 870313002
- Perlman syndrome 722231005
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Peroxisome biogenesis disorder 742876007
- Persistent Müllerian duct syndrome 702358005
- Peters plus syndrome 449817000
- PGM1-related congenital disorder of glycosylation 783717008
- PHAVER syndrome 723453002
- Phenylketonuria 190687004
- Phosphoglucomutase 3-related congenital disorder of glycosylation 1187623009
- Pierson syndrome 723449004
- Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome 1230005002
- Pili torti onychodysplasia syndrome 723451000
- Pili torti-deafness syndrome 67817003
- Pilodental dysplasia, refractive errors syndrome 771240009
- PLAA-associated neurodevelopmental disorder 1217367007
- PLACK syndrome 1237509001
- Poikiloderma with neutropenia 772126000
- Polycystic kidney disease, infantile type 28770003
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001
- Polyendocrine polyneuropathy syndrome 1260449002
- Polyglandular autoimmune syndrome, type 1 11244009
- Polyglucosan body myopathy type 1 774148007
- Polyglucosan body myopathy type 2 1228849007
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome 1167371007
- Polymicrogyria with optic nerve hypoplasia 771336003
- Polysyndactyly and cardiac malformation syndrome 724066002
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Porphobilinogen synthase deficiency 64081000
- Postaxial polydactyly, dental, vertebral anomalies syndrome 773279006
- Preaxial polydactyly, colobomata, intellectual disability syndrome 733088002
- Predisposition to invasive fungal disease due to CARD9 deficiency 1186719000
- Predisposition to severe viral infection due to IRF7 deficiency 1269234000
- Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007
- Primary CD59 deficiency 778027003
- Primary dystonia DYT27 type 1220573009
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Primary hyperoxaluria 17901006
- Primary immunodeficiency syndrome due to p14 deficiency 718717004
- Primary immunodeficiency with multifaceted aberrant lymphoid immunity 1197478005
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 783245001
- Primary intraosseous venous malformation 764100007
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 782755007
- Primary triglyceride deposit cardiomyovasculopathy 1279844009
- Progeroid features, hepatocellular carcinoma predisposition syndrome 1216939003
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome 1237413006
- Progressive cavitating leukoencephalopathy 719267003
- Progressive cerebellar ataxia with hypogonadism 230240004
- Progressive cerebello-cerebral atrophy 1208481000
- Progressive deafness with stapes fixation 715529009
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 770678005
- Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome 1260130005
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009
- Progressive intrahepatic cholestasis 74162007
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome 1172900005
- Progressive myoclonic epilepsy type 3 783064000
- Progressive myoclonic epilepsy type 6 783062001
- Progressive myoclonic epilepsy type 8 783139000
- Progressive myoclonic epilepsy type 9 1228857005
- Progressive myoclonic epilepsy with dystonia 763349002
- Progressive myoclonus epilepsy with ataxia 702326000
- Progressive polyneuropathy with bilateral striatal necrosis 771305006
- Progressive retinal dystrophy due to retinol transport defect 773576000
- Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004
- Proline dehydrogenase deficiency 61071003
- Proline dipeptidase deficiency 69634002 removed: 2004-07-31
- Propionic acidemia 69080001
- Proximal myopathy with extrapyramidal signs 770722002
- PRUNE1-related neurological syndrome 1222657001
- Pseudodiastrophic dysplasia 254058002
- Pseudohypoaldosteronism, type 1, recessive form 91180009
- Pseudoprogeria syndrome 733086003
- Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome 1187043002
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 724039002
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome 724016008
- Puerto Rican infant hypotonia syndrome 721887007
- Purine-nucleoside phosphorylase deficiency 60743005
- PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
- Pyknoachondrogenesis 719258003
- Pyknodysostosis 89647000
- Pyle metaphyseal dysplasia 27837003
- Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 718232007
- Pyridoxal 5-phosphate dependent epilepsy 724576005
- Pyridoxine-dependent epilepsy 734434007
- Pyruvate carboxylase deficiency 87694001
- QRSL1-related combined oxidative phosphorylation defect 1197430005
- RAB18 deficiency 772225005
- Raine dysplasia 389239007
- Rambaud Gallian syndrome 724002003
- RAPADILINO syndrome 702413000
- RARS-related autosomal recessive hypomyelinating leukodystrophy 1220600004
- Reardon Hall Slaney syndrome 715471007
- Recessive aplasia cutis congenita of limbs 723500009
- Recessive dystrophic epidermolysis bullosa 48528004
- Recessive mitochondrial ataxia syndrome 782696001
- Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome 1172698005
- Recurrent Neisseria infection due to factor D deficiency 783007005
- Refetoff syndrome 111567006
- Regressive spondylometaphyseal dysplasia 1237412001
- Renal hepatic pancreatic dysplasia 763891005
- Renal tubular acidosis with progressive nerve deafness 236532003
- Renal tubulopathy with encephalopathy and liver failure syndrome 717053007
- Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta 1260241001
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 764452004
- Retinal degeneration, nanophthalmos, glaucoma syndrome 723503006
- Retinal detachment and occipital encephalocele 703542000
- Retinitis punctata albescens 715562001
- Retinohepatoendocrinologic syndrome 724000006
- Rhizomelic syndrome Urbach type 770948004
- Richards-Rundle syndrome 715415005
- Richieri Costa-da Silva syndrome 782941005
- RIDDLE syndrome 783099001
- RNA polymerase III-related leukodystrophy 712637001
- Roberts-SC phocomelia syndrome 48718006
- Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome 1231737000
- Rolland-Debuqois syndrome 95243004
- Rothmund Thomson syndrome type 1 1003922004
- Rothmund Thomson syndrome type 2 1003923009
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Saito Kuba Tsuruta syndrome 716094008
- Saldino-Mainzer dysplasia 254092004
- Sanfilippo syndrome 88393000
- Sanjad Sakati syndrome 1197148005
- Sarcosine dehydrogenase deficiency 64852002
- Schimke immuno-osseous dysplasia 723995003
- Schinzel phocomelia syndrome 715522000
- Schwartz-Jampel syndrome 29145002
- Seckel syndrome 57917004
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome 721207002
- Seizures and intellectual disability due to hydroxylysinuria 723994004
- Seizures, scoliosis, macrocephaly syndrome 1187250005
- Selective malabsorption of cyanocobalamin 234363001
- Sensorineural deafness and male infertility 700489002
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome 717266001
- SERKAL syndrome 723720008
- Severe autosomal recessive macrothrombocytopenia 1187614006
- Severe childhood autosomal recessive muscular dystrophy 277373000
- Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005
- Severe early childhood onset retinal dystrophy 716663009
- Severe early-onset axonal neuropathy due to mitofusin 2 deficiency 766977007
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 1228876007
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome 773419004
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe myopia, generalized joint laxity, short stature syndrome 1217372003
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 773423007
- Severe neurodegenerative syndrome with lipodystrophy 773555005
- Severe oculo-renal-cerebellar syndrome 1208341008
- Severe primary trimethylaminuria 1237339005
- Severe steroid 21-hydroxylase deficiency 15991002
- Short rib polydactyly syndrome 205484001
- Short stature due to primary acid labile subunit deficiency 721074002
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency 763890006
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
- Short stature, developmental delay, congenital heart defect syndrome 1237512003
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome 723998001
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Sialidosis 38795005
- Siegler Brewer Carey syndrome 721076000
- Sinoatrial node dysfunction and deafness 770784003
- Sitosterolemia with xanthomatosis 65419005
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- SLC39A8 congenital disorder of glycosylation 1187171005
- Smith McCort dysplasia 715862006
- Sonoda syndrome 715987000
- Spastic paraplegia type 15 709417000 removed: 2018-07-31
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome 1237418002
- Spectrin-associated autosomal recessive cerebellar ataxia 763351003
- Sphingomyelin/cholesterol lipidosis 58459009
- Spinal muscular atrophy with progressive myoclonic epilepsy 703524005
- Spinocerebellar ataxia dysmorphism syndrome 733033001
- Spinocerebellar ataxia with axonal neuropathy type 1 765091006
- Split hand, split foot malformation with sensorineural hearing loss syndrome 723611008
- Split-foot malformation, mesoaxial polydactyly syndrome 1172635005
- Spondylo-megaepiphyseal-metaphyseal dysplasia 773693005
- Spondylo-ocular syndrome 715653007
- Spondylocarpotarsal synostosis syndrome 702351004
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Spondyloenchondrodysplasia with immune dysregulation 703523004
- Spondyloenchondromatosis 389268008
- Spondyloepimetaphyseal dysplasia aggrecan type 719165004
- Spondyloepimetaphyseal dysplasia anauxetic type 764460003
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Spondyloepimetaphyseal dysplasia Irapa type 717330004
- Spondyloepimetaphyseal dysplasia matrilin-3 type 719166003
- Spondyloepimetaphyseal dysplasia PAPSS2 type 719172003
- Spondyloepimetaphyseal dysplasia Shohat type 719201004
- Spondyloepimetaphyseal dysplasia with joint laxity Beighton type 1286833006
- Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000
- Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome 773302000
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006
- Spondyloepiphyseal dysplasia tarda Kohn type 719202006
- Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
- Spondylometaphyseal dysplasia A4 type 782912001
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006
- Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006
- Spongy degeneration of central nervous system 80544005
- Steel syndrome 1197589000
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Steroid dehydrogenase deficiency and dental anomaly syndrome 723583009
- Stickler syndrome type 4 1010666007
- Stimmler syndrome 733072002
- Stromme syndrome 1187120008
- Subaortic stenosis and short stature syndrome 783096008
- Succinate-semialdehyde dehydrogenase deficiency 49748000
- Sucrase-isomaltase deficiency 78373000
- Sudden infant death with dysgenesis of testes syndrome 711157000
- Sugarman brachydactyly 1187132007
- Sulfite oxidase deficiency syndrome 40873003
- Summitt syndrome 733606001
- Susceptibility to infection due to TYK2 deficiency 1197415001
- Susceptibility to localized juvenile periodontitis 1197482007
- Susceptibility to respiratory infection associated with CD8alpha chain mutation 766983005
- Susceptibility to viral and mycobacterial infection 778045003
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008
- Syndrome of apparent mineralocorticoid excess 237770005
- Syndromic congenital sodium diarrhea 1222709003
- Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
- T-cell immunodeficiency with epidermodysplasia verruciformis 770785002
- T-cell receptor alpha-beta-positive T-cell deficiency 782750002
- Tall stature, intellectual disability, renal anomalies syndrome 1169359006
- Talo-patello-scaphoid osteolysis syndrome 723580007
- Tangier disease 723579009
- Taurodontia with absent teeth and sparse hair syndrome 719945007
- Tay-Sachs disease 111385000
- TBCK-related intellectual disability syndrome 1172628002
- Teebi Shaltout syndrome 771265006
- Tel Hashomer camptodactyly syndrome 719946008
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- Temtamy preaxial brachydactyly syndrome 777998000
- Temtamy syndrome 719947004
- Testicular tumor of adrenogenital syndrome 195049006 removed: 2002-07-31
- Tetra-amelia syndrome 702313004
- Tetrahydrobiopterin synthesis defect 68724006
- Thakker Donnai syndrome 773281008
- Thiamine-responsive encephalopathy 723557004
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- Thomas syndrome 716740009
- Thoracic dysplasia and hydrocephalus syndrome 782951006
- Thoracomelic dysplasia 783003009
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Thyrocerebrorenal syndrome 733096007
- TMEM199 congenital disorder of glycosylation 1208738002
- TMEM70 related mitochondrial encephalo-cardio-myopathy 718212006
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
- Toriello Carey syndrome 722477003
- Total intestinal aganglionosis 204745000
- Transcobalamin II deficiency 237934001
- Transient infantile hypertriglyceridemia and hepatosteatosis 773649005
- Trichohepatoenteric syndrome 703406006
- Trichoodontoonychial dysplasia 766813000
- Trichothiodystrophy 723551003
- Tumoral calcinosis 61778004
- Tungland Bellman syndrome 716239006
- Type 3 lissencephaly 1003444000
- Tyrosinemia type III 415764005
- Ulbright Hodes syndrome 719840003
- Ultraviolet sensitive syndrome 698253007
- Upper limb defect with eye and ear abnormalities syndrome 716110002
- Upshaw-Schulman syndrome 373420004
- Urban Rogers Meyer syndrome 716334004
- Urocanate hydratase deficiency 60952007
- USP18 deficiency 1251449006
- VACTERL syndrome with hydrocephalus 719043002
- Van den Ende-Gupta syndrome 719845008
- Vanishing white matter disease 447351004
- Vasculitis due to adenosine deaminase 2 deficiency 770687001
- Verloes Bourguignon syndrome 716195006
- Vici syndrome 719824001
- Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome 719833004
- VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
- Walker-Warburg congenital muscular dystrophy 111504002
- WARS2-related combined oxidative phosphorylation defect 1260128008
- Warsaw breakage syndrome 702829000
- Weaver Williams syndrome 726670008
- Werdnig-Hoffmann disease 64383006
- Werner syndrome 51626007
- White forelock with malformations syndrome 763619009
- Wilson's disease 88518009
- Wilson's disease * 191710006 removed: 2002-07-31
- Wolfram syndrome 70694009
- Woodhouse Sakati syndrome 816067005
- Wrinkly skin syndrome 238875009
- Xeroderma pigmentosum 44600005
- XK aprosencephaly syndrome 1162839003
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
- XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007
- Zechi Ceide syndrome 773307006
- Zellweger-like syndrome without peroxisomal anomaly 718880003
- Zlotogora Ogur syndrome 716248001
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