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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
distal arthrogryposis type 1C  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
hypophosphatasia +   
McCune Albright syndrome  
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
spondylocostal dysostosis 5  
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8 
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   
 17-beta hydroxysteroid dehydrogenase 3 deficiency +   
 2-aminoadipic 2-oxoadipic aciduria  
 3-M syndrome +   
 3-methylcrotonyl-CoA carboxylase deficiency +   
 3-methylglutaconic aciduria type 1  
 3-methylglutaconic aciduria type 3  
 3-methylglutaconic aciduria type 5  
 3-methylglutaconic aciduria type 8  
 3-methylglutaconic aciduria type 9  
 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
 3MC syndrome +   
 46,XY sex reversal 5  
 46,XY sex reversal 7  
 46,XY sex reversal 8  
 ABCD syndrome  
 abetalipoproteinemia +   
 aceruloplasminemia  
 achalasia microcephaly syndrome 
 acheiropody  
 achondrogenesis type IA  
 achondrogenesis type IB  
 achromatopsia 2  
 achromatopsia 3  
 achromatopsia 7  
 acrocapitofemoral dysplasia  
 acromesomelic dysplasia, Grebe type  
 acromesomelic dysplasia, Hunter-Thompson type  
 acromesomelic dysplasia, Maroteaux type  
 acromesomelic dysplasia-4  
 acrorenal syndrome +  
 adenine phosphoribosyltransferase deficiency  
 adult spinal muscular atrophy  
 agammaglobulinemia 1  
 agammaglobulinemia 2  
 agammaglobulinemia 3  
 agammaglobulinemia 4  
 agammaglobulinemia 6  
 agammaglobulinemia 7  
 agammaglobulinemia 8B  
 agammaglobulinemia 9  
 AGAT deficiency  
 agenesis of the corpus callosum with peripheral neuropathy  
 alacrima, achalasia, and impaired intellectual development syndrome  
 Alkuraya-Kucinskas syndrome  
 alopecia universalis +   
 alopecia, neurologic defects, and endocrinopathy syndrome  
 alopecia-mental retardation syndrome 1  
 alopecia-mental retardation syndrome 2 
 alopecia-mental retardation syndrome 3 
 alopecia-mental retardation syndrome 4  
 Alpers-Huttenlocher syndrome +   
 alpha-2-plasmin inhibitor deficiency  
 Alstrom syndrome  
 AMED syndrome  
 amelogenesis imperfecta hypomaturation type 2A2  
 amelogenesis imperfecta hypomaturation type 2A3  
 amelogenesis imperfecta hypomaturation type 2A4  
 amelogenesis imperfecta hypomaturation type 2A5  
 amelogenesis imperfecta type 1C  
 amelogenesis imperfecta type 1F  
 amelogenesis imperfecta type 1G  
 amelogenesis imperfecta type 1H  
 amelogenesis imperfecta type 1J  
 amelogenesis imperfecta type 2A1  
 amelogenesis imperfecta type 2A6  
 amelogenesis imperfecta type 3C  
 anauxetic dysplasia 1  
 anauxetic dysplasia 2  
 anauxetic dysplasia 3  
 anterior segment dysgenesis 2 +   
 anterior segment dysgenesis 7  
 anterior segment dysgenesis 8  
 antithrombin III deficiency  
 Antley-Bixler syndrome with disordered steroidogenesis  
 ARC syndrome +   
 arthrogryposis multiplex congenita +   
 asphyxiating thoracic dystrophy 1  
 asphyxiating thoracic dystrophy 2  
 asphyxiating thoracic dystrophy 3  
 asphyxiating thoracic dystrophy 4  
 asphyxiating thoracic dystrophy 5  
 Athabaskan brainstem dysgenesis syndrome  
 atransferrinemia  
 atrial standstill 2  
 atrichia with papular lesions  
 autoimmune lymphoproliferative syndrome type 2B  
 autoimmune lymphoproliferative syndrome type 3  
 autosomal recessive Alport syndrome  
 autosomal recessive centronuclear myopathy +   
 autosomal recessive cerebellar ataxia +   
 autosomal recessive chronic granulomatous disease 1  
 autosomal recessive chronic granulomatous disease 2  
 autosomal recessive chronic granulomatous disease 3  
 autosomal recessive chronic granulomatous disease 4  
 autosomal recessive chronic granulomatous disease 5  
 autosomal recessive congenital bilateral absence of vas deferens  
 autosomal recessive congenital ichthyosis +   
 autosomal recessive congenital nystagmus  
 autosomal recessive craniometaphyseal dysplasia  
 Autosomal Recessive Cutis Laxa +   
 autosomal recessive distal hereditary motor neuronopathy +   
 Autosomal Recessive Dyskeratosis Congenita +   
 autosomal recessive Emery-Dreifuss muscular dystrophy 3  
 autosomal recessive hyaline body myopathy  
 autosomal recessive hypophosphatemic rickets +   
 autosomal recessive intellectual developmental disorder +   
 autosomal recessive isolated ectopia lentis 2  
 autosomal recessive limb-girdle muscular dystrophy +   
 autosomal recessive nonsyndromic deafness +   
 autosomal recessive osteopetrosis 1  
 autosomal recessive osteopetrosis 2  
 autosomal recessive osteopetrosis 3  
 autosomal recessive osteopetrosis 4  
 autosomal recessive osteopetrosis 5  
 autosomal recessive osteopetrosis 6  
 autosomal recessive osteopetrosis 7  
 autosomal recessive osteopetrosis 8  
 autosomal recessive pericentral pigmentary retinopathy 
 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
 autosomal recessive polycystic kidney disease +   
 autosomal recessive pseudohypoaldosteronism type 1 +   
 autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
 autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
 autosomal recessive Robinow syndrome  
 Autosomal Recessive Robinow Syndrome 2  
 autosomal recessive spondyloepiphyseal dysplasia tarda 
 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 
 autosomal recessive thrombophilia due to protein C deficiency  
 autosomal recessive thrombophilia due to protein S deficiency  
 autosomal recessive type IV Ehlers-Danlos syndrome 
 autosomal recessive Whistling face syndrome 
 Autosomal Recessive Woolly Hair +   
 axial spondylometaphyseal dysplasia  
 Bardet-Biedl syndrome +   
 Behr syndrome  
 benign recurrent intrahepatic cholestasis 1  
 benign recurrent intrahepatic cholestasis 2  
 Bernard-Soulier syndrome +   
 beta-ketothiolase deficiency  
 BH4-deficient hyperphenylalaninemia A  
 BH4-deficient hyperphenylalaninemia B  
 BH4-deficient hyperphenylalaninemia C  
 BH4-deficient hyperphenylalaninemia D  
 bilateral frontoparietal polymicrogyria  
 bilateral parasagittal parieto-occipital polymicrogyria  
 biotinidase deficiency +   
 Bjornstad syndrome  
 Bloom syndrome  
 Boucher-Neuhauser syndrome  
 Bowen-Conradi syndrome  
 brachyolmia-amelogenesis imperfecta syndrome  
 brain small vessel disease 3  
 branched-chain keto acid dehydrogenase kinase deficiency  
 brittle cornea syndrome 1  
 brittle cornea syndrome 2  
 Brown-Vialetto-Van Laere syndrome 1  
 Brown-Vialetto-Van Laere syndrome 2  
 camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
 Canavan disease  
 carbamoyl phosphate synthetase I deficiency disease  
 carboxypeptidase N deficiency  
 carnitine-acylcarnitine translocase deficiency  
 cartilage-hair hypoplasia  
 cataract 11 multiple types +   
 cataract 13 with adult i phenotype  
 cataract 16 multiple types  
 cataract 17 multiple types  
 cataract 18  
 cataract 19 multiple types  
 cataract 22 multiple types  
 cataract 33  
 cataract 35 
 cataract 36  
 cataract 38  
 cataract 44  
 cataract 45  
 cataract 46 juvenile-onset  
 cataract 48  
 cataract 9 multiple types  
 CD3epsilon deficiency  
 CD3gamma deficiency 
 CEDNIK syndrome  
 central core disease +   
 cerebellar atrophy, visual impairment, and psychomotor retardation  
 cerebellofaciodental syndrome  
 Charcot-Marie-Tooth disease axonal type 2H 
 Charcot-Marie-Tooth disease axonal type 2K  
 Charcot-Marie-Tooth disease axonal type 2P  
 Charcot-Marie-Tooth disease axonal type 2S  
 Charcot-Marie-Tooth disease axonal type 2T  
 Charcot-Marie-Tooth disease axonal type 2X  
 Charcot-Marie-Tooth disease recessive intermediate A  
 Charcot-Marie-Tooth disease recessive intermediate B  
 Charcot-Marie-Tooth disease recessive intermediate C  
 Charcot-Marie-Tooth disease recessive intermediate D  
 Charcot-Marie-Tooth disease type 1F  
 Charcot-Marie-Tooth disease type 2A2B  
 Charcot-Marie-Tooth disease type 2B1  
 Charcot-Marie-Tooth disease type 2B2  
 Charcot-Marie-Tooth disease type 2EE  
 Charcot-Marie-Tooth disease type 2R  
 Charcot-Marie-Tooth disease type 3  
 Charcot-Marie-Tooth disease type 4A  
 Charcot-Marie-Tooth disease type 4B1  
 Charcot-Marie-Tooth disease type 4B2  
 Charcot-Marie-Tooth disease type 4B3  
 Charcot-Marie-Tooth disease type 4C  
 Charcot-Marie-Tooth disease type 4D  
 Charcot-Marie-Tooth disease type 4E  
 Charcot-Marie-Tooth disease type 4F  
 Charcot-Marie-Tooth disease type 4G  
 Charcot-Marie-Tooth disease type 4H  
 Charcot-Marie-Tooth disease type 4J  
 Charcot-Marie-Tooth disease type 4K  
 Chediak-Higashi syndrome +   
 CHIME syndrome  
 chondrodysplasia with joint dislocations gPAPP type  
 choreaacanthocytosis  
 classic galactosemia  
 cleft lip-palate-ectodermal dysplasia syndrome  
 COACH syndrome +   
 Cockayne syndrome +   
 CODAS syndrome  
 Cohen syndrome  
 cold-induced sweating syndrome +   
 combined cellular and humoral immune defects with granulomas  
 combined D-2- and L-2-hydroxyglutaric aciduria  
 combined deficiency of vitamin K-dependent clotting factors 1  
 combined deficiency of vitamin K-dependent clotting factors 2  
 combined malonic and methylmalonic acidemia  
 combined oxidative phosphorylation deficiency 1  
 combined oxidative phosphorylation deficiency 10  
 combined oxidative phosphorylation deficiency 11  
 combined oxidative phosphorylation deficiency 12  
 combined oxidative phosphorylation deficiency 13  
 combined oxidative phosphorylation deficiency 14  
 combined oxidative phosphorylation deficiency 15  
 combined oxidative phosphorylation deficiency 16  
 combined oxidative phosphorylation deficiency 17  
 combined oxidative phosphorylation deficiency 18  
 combined oxidative phosphorylation deficiency 19  
 combined oxidative phosphorylation deficiency 2  
 combined oxidative phosphorylation deficiency 20  
 combined oxidative phosphorylation deficiency 21  
 combined oxidative phosphorylation deficiency 22  
 combined oxidative phosphorylation deficiency 23  
 combined oxidative phosphorylation deficiency 24  
 combined oxidative phosphorylation deficiency 25  
 combined oxidative phosphorylation deficiency 26  
 combined oxidative phosphorylation deficiency 27  
 combined oxidative phosphorylation deficiency 28  
 combined oxidative phosphorylation deficiency 29  
 combined oxidative phosphorylation deficiency 3  
 combined oxidative phosphorylation deficiency 30  
 combined oxidative phosphorylation deficiency 31  
 combined oxidative phosphorylation deficiency 32  
 combined oxidative phosphorylation deficiency 33  
 combined oxidative phosphorylation deficiency 34  
 combined oxidative phosphorylation deficiency 35  
 combined oxidative phosphorylation deficiency 36  
 combined oxidative phosphorylation deficiency 37  
 combined oxidative phosphorylation deficiency 38  
 combined oxidative phosphorylation deficiency 39  
 combined oxidative phosphorylation deficiency 4  
 combined oxidative phosphorylation deficiency 40  
 combined oxidative phosphorylation deficiency 41  
 combined oxidative phosphorylation deficiency 42  
 combined oxidative phosphorylation deficiency 43  
 combined oxidative phosphorylation deficiency 45  
 combined oxidative phosphorylation deficiency 46  
 combined oxidative phosphorylation deficiency 47  
 combined oxidative phosphorylation deficiency 48  
 combined oxidative phosphorylation deficiency 49  
 combined oxidative phosphorylation deficiency 5  
 combined oxidative phosphorylation deficiency 50  
 combined oxidative phosphorylation deficiency 51  
 combined oxidative phosphorylation deficiency 7  
 combined oxidative phosphorylation deficiency 8  
 combined oxidative phosphorylation deficiency 9  
 common variable immunodeficiency +   
 Compton-North congenital myopathy  
 congenital adrenal insufficiency  
 congenital afibrinogenemia +   
 congenital amegakaryocytic thrombocytopenia  
 congenital diarrhea 5 with tufting enteropathy  
 congenital diarrhea 7 with exudative enteropathy  
 congenital disorder of glycosylation Ia  
 congenital disorder of glycosylation Iaa  
 congenital disorder of glycosylation Ib  
 congenital disorder of glycosylation Ic  
 congenital disorder of glycosylation Id  
 congenital disorder of glycosylation Ie  
 congenital disorder of glycosylation If  
 congenital disorder of glycosylation Ig  
 congenital disorder of glycosylation Ih  
 congenital disorder of glycosylation Ii  
 congenital disorder of glycosylation Ij  
 congenital disorder of glycosylation Ik  
 congenital disorder of glycosylation Il  
 congenital disorder of glycosylation Im  
 congenital disorder of glycosylation In  
 congenital disorder of glycosylation Ip  
 congenital disorder of glycosylation Iq  
 congenital disorder of glycosylation Ir  
 congenital disorder of glycosylation It  
 congenital disorder of glycosylation Iu  
 congenital disorder of glycosylation Iw  
 congenital disorder of glycosylation Ix  
 congenital disorder of glycosylation type IIa  
 congenital disorder of glycosylation type IIb  
 congenital disorder of glycosylation type IIc  
 congenital disorder of glycosylation type IId  
 congenital disorder of glycosylation type IIe  
 congenital disorder of glycosylation type IIf  
 congenital disorder of glycosylation type IIg  
 congenital disorder of glycosylation type IIh  
 congenital disorder of glycosylation type IIi  
 congenital disorder of glycosylation type IIj  
 congenital disorder of glycosylation type IIk  
 congenital disorder of glycosylation type IIl  
 congenital disorder of glycosylation type IIn  
 congenital disorder of glycosylation type IIo  
 congenital disorder of glycosylation type IIp  
 congenital disorder of glycosylation type IIq  
 congenital dyserythropoietic anemia type Ia  
 congenital dyserythropoietic anemia type Ib  
 congenital dyserythropoietic anemia type II  
 congenital fibrosis of the extraocular muscles 2  
 congenital fibrosis of the extraocular muscles 5  
 congenital generalized lipodystrophy +   
 congenital heart defects, hamartomas of tongue, and polysyndactyly  
 congenital hereditary endothelial dystrophy of cornea  
 congenital hypotrichosis with juvenile macular dystrophy  
 congenital lactase deficiency  
 congenital leptin deficiency  
 congenital limbs-face contractures-hypotonia-developmental delay syndrome  
 congenital malabsorptive diarrhea 4  
 congenital merosin-deficient muscular dystrophy 1A +   
 congenital muscular dystrophy 1B 
 congenital muscular dystrophy due to integrin alpha-7 deficiency  
 congenital muscular dystrophy merosin-positive 
 congenital muscular dystrophy with cataracts and intellectual disability  
 congenital muscular dystrophy-dystroglycanopathy type A +   
 congenital myasthenic syndrome 10  
 congenital myasthenic syndrome 11  
 congenital myasthenic syndrome 12  
 congenital myasthenic syndrome 13  
 congenital myasthenic syndrome 14  
 congenital myasthenic syndrome 15  
 congenital myasthenic syndrome 16  
 congenital myasthenic syndrome 17  
 congenital myasthenic syndrome 19  
 congenital myasthenic syndrome 1B  
 congenital myasthenic syndrome 20  
 congenital myasthenic syndrome 21  
 congenital myasthenic syndrome 22  
 congenital myasthenic syndrome 2C  
 congenital myasthenic syndrome 3B  
 congenital myasthenic syndrome 3C  
 congenital myasthenic syndrome 4A  
 congenital myasthenic syndrome 4B  
 congenital myasthenic syndrome 4C  
 congenital myasthenic syndrome 5  
 congenital myasthenic syndrome 6  
 congenital myasthenic syndrome 8  
 congenital myasthenic syndrome 9  
 congenital nongoitrous hypothyroidism 1  
 congenital nongoitrous hypothyroidism 4  
 congenital nongoitrous hypothyroidism 7  
 congenital secretory chloride diarrhea 1  
 congenital secretory sodium diarrhea 3  
 congenital secretory sodium diarrhea 8  
 congenital stationary night blindness 1B  
 congenital stationary night blindness 1C  
 congenital stationary night blindness 1D  
 congenital stationary night blindness 1E  
 congenital stationary night blindness 1F  
 congenital stationary night blindness 1G  
 congenital stationary night blindness 1H  
 congenital sucrase-isomaltase deficiency  
 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B  
 corneal dystrophy-perceptive deafness syndrome  
 cortical dysplasia-focal epilepsy syndrome  
 corticosterone methyloxidase deficiency 1  
 cortisone reductase deficiency 1  
 cranioectodermal dysplasia +   
 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1  
 craniolenticulosutural dysplasia  
 craniotubular dysplasia Ikegawa type  
 cystathioninuria  
 cystic fibrosis +   
 cystinosis +   
 cytochrome P450 oxidoreductase deficiency  
 D-2-hydroxyglutaric aciduria 1  
 D-glyceric aciduria  
 DEGCAGS SYNDROME  
 developmental and epileptic encephalopathy 12  
 developmental and epileptic encephalopathy 15  
 developmental and epileptic encephalopathy 16  
 developmental and epileptic encephalopathy 18  
 developmental and epileptic encephalopathy 21  
 developmental and epileptic encephalopathy 23  
 developmental and epileptic encephalopathy 25  
 developmental and epileptic encephalopathy 28  
 developmental and epileptic encephalopathy 29  
 developmental and epileptic encephalopathy 3  
 developmental and epileptic encephalopathy 34  
 developmental and epileptic encephalopathy 35  
 developmental and epileptic encephalopathy 37  
 developmental and epileptic encephalopathy 38  
 developmental and epileptic encephalopathy 39  
 developmental and epileptic encephalopathy 40  
 developmental and epileptic encephalopathy 44  
 developmental and epileptic encephalopathy 48  
 developmental and epileptic encephalopathy 49  
 developmental and epileptic encephalopathy 50  
 developmental and epileptic encephalopathy 51  
 developmental and epileptic encephalopathy 52  
 developmental and epileptic encephalopathy 53  
 developmental and epileptic encephalopathy 55  
 developmental and epileptic encephalopathy 60  
 developmental and epileptic encephalopathy 61  
 developmental and epileptic encephalopathy 63  
 developmental and epileptic encephalopathy 68  
 developmental and epileptic encephalopathy 71  
 developmental and epileptic encephalopathy 75  
 developmental and epileptic encephalopathy 76  
 developmental and epileptic encephalopathy 77  
 developmental and epileptic encephalopathy 80  
 developmental and epileptic encephalopathy 81  
 developmental and epileptic encephalopathy 82  
 developmental and epileptic encephalopathy 83  
 developmental and epileptic encephalopathy 84  
 developmental and epileptic encephalopathy 86  
 developmental and epileptic encephalopathy 88  
 developmental and epileptic encephalopathy 89  
 diastrophic dysplasia +   
 dicarboxylic aminoaciduria  
 dihydropyrimidinase deficiency  
 dilated cardiomyopathy 1X  
 dilated cardiomyopathy 2A  
 dilated cardiomyopathy 2B  
 dilated cardiomyopathy 2C  
 dilated cardiomyopathy 2D  
 dilated cardiomyopathy 2E  
 dilated cardiomyopathy 2F  
 dilated cardiomyopathy 2G  
 distal arthrogryposis type 5D  
 DNA ligase IV deficiency  
 Donnai-Barrow syndrome  
 Donohue syndrome  
 DOORS syndrome  
 Dubowitz syndrome  
 Dyggve-Melchior-Clausen disease +   
 dystonia 16  
 dystonia 27  
 dystonia 5  
 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
 early-onset vitamin B6-dependent epilepsy  
 EAST syndrome  
 ectodermal dysplasia 10B  
 ectodermal dysplasia 11B  
 ectodermal dysplasia 13  
 ectodermal dysplasia 14  
 ectodermal dysplasia 15  
 ectodermal dysplasia 4  
 ectodermal dysplasia 5 
 ectodermal dysplasia 6 
 ectodermal dysplasia 7  
 ectodermal dysplasia 8 
 ectodermal dysplasia 9  
 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
 ectopia lentis with ectopia of pupil  
 Ehlers-Danlos syndrome cardiac valvular type  
 Ehlers-Danlos syndrome classic-like 1  
 Ehlers-Danlos syndrome classic-like 2  
 Ehlers-Danlos syndrome dermatosparaxis type  
 Ehlers-Danlos syndrome kyphoscoliotic type 1  
 Ehlers-Danlos syndrome kyphoscoliotic type 2  
 Ehlers-Danlos syndrome musculocontractural type 1  
 Ehlers-Danlos syndrome musculocontractural type 2  
 Ehlers-Danlos syndrome spondylodysplastic type 1  
 Ehlers-Danlos syndrome spondylodysplastic type 2  
 Eiken syndrome  
 Ellis-Van Creveld syndrome +   
 endocrine-cerebro-osteodysplasia syndrome  
 enhanced S-cone syndrome  
 enterokinase deficiency  
 epidermodysplasia verruciformis +   
 epidermolysis bullosa simplex with muscular dystrophy  
 erythrokeratodermia variabilis et progressiva 1  
 erythrokeratodermia variabilis et progressiva 4  
 erythrokeratodermia variabilis et progressiva 5  
 essential fructosuria  
 factor V deficiency +   
 factor VII deficiency  
 factor X deficiency  
 factor XII deficiency  
 factor XIII deficiency +   
 familial adenomatous polyposis 2  
 familial adenomatous polyposis 3  
 familial adenomatous polyposis 4  
 familial adult myoclonic epilepsy 5  
 familial apolipoprotein C-II deficiency  
 familial benign fleck retina  
 familial erythrocytosis 2  
 familial hemophagocytic lymphohistiocytosis 1 
 familial hemophagocytic lymphohistiocytosis 2  
 familial hemophagocytic lymphohistiocytosis 3  
 familial hemophagocytic lymphohistiocytosis 4  
 familial hepatic adenoma  
 familial hyperinsulinemic hypoglycemia 1  
 familial hyperinsulinemic hypoglycemia 2  
 familial hyperinsulinemic hypoglycemia 4  
 familial hyperinsulinemic hypoglycemia 8  
 familial hypertryptophanemia  
 familial isolated trichomegaly  
 familial lipase maturation factor 1 deficiency  
 familial lipoprotein lipase deficiency +   
 familial partial lipodystrophy type 5  
 familial partial lipodystrophy type 6  
 familial temporal lobe epilepsy 5  
 Fanconi anemia complementation group A +   
 Fanconi anemia complementation group C  
 Fanconi anemia complementation group D1  
 Fanconi anemia complementation group D2  
 Fanconi anemia complementation group E  
 Fanconi anemia complementation group I  
 Fanconi anemia complementation group L  
 Fanconi anemia complementation group O  
 Fanconi anemia complementation group P  
 Fanconi anemia complementation group Q  
 Fanconi anemia complementation group T  
 Fanconi anemia complementation group U  
 Fanconi anemia complementation group V  
 Fanconi renotubular syndrome 2  
 Fanconi renotubular syndrome 5  
 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
 fatal infantile hypertonic myofibrillar myopathy  
 Fazio-Londe disease  
 fetal akinesia deformation sequence syndrome 1  
 fetal akinesia deformation sequence syndrome 2  
 fetal akinesia deformation sequence syndrome 3  
 fetal akinesia deformation sequence syndrome 4  
 fetal encasement syndrome  
 fibrochondrogenesis 1  
 fibrochondrogenesis 2  
 fibular hypoplasia and complex brachydactyly  
 Filippi syndrome  
 focal segmental glomerulosclerosis 6  
 focal segmental glomerulosclerosis 9  
 Frank-Ter Haar syndrome  
 Fraser syndrome +   
 frontonasal dysplasia 1  
 frontonasal dysplasia 2  
 frontonasal dysplasia 3  
 Fuhrmann syndrome  
 fumarase deficiency  
 galactose epimerase deficiency  
 Galloway-Mowat syndrome +   
 Galloway-Mowat syndrome 1  
 Galloway-Mowat syndrome 3  
 Galloway-Mowat syndrome 4  
 gamma-glutamyl transpeptidase deficiency  
 gangliosidosis +   
 GAPO syndrome  
 Gaucher's disease type III +   
 gelatinous drop-like corneal dystrophy  
 geleophysic dysplasia 1  
 geroderma osteodysplasticum  
 Ghosal hematodiaphyseal syndrome  
 giant axonal neuropathy 1  
 Gitelman syndrome  
 glucocorticoid deficiency 1  
 glutamate formiminotransferase deficiency  
 glutamate-cysteine ligase deficiency  
 glutaric acidemia I  
 glutaric acidemia type 3  
 glutathione synthetase deficiency of erythrocytes  
 glutatione synthetase deficiency with 5-oxoprolinuria  
 glycogen storage disease Ia  
 glycogen storage disease Ib  
 glycogen storage disease Ic  
 glycogen storage disease III +   
 glycogen storage disease V  
 glycogen storage disease XV  
 GNE myopathy  
 Goldberg-Shprintzen syndrome  
 Gordon Holmes syndrome  
 GRACILE syndrome  
 gray platelet syndrome +   
 Greenberg dysplasia  
 Griscelli syndrome +   
 growth hormone insensitivity syndrome with immune dysregulation 1  
 Heimler syndrome 1  
 Heimler syndrome 2  
 hepatic venoocclusive disease with immunodeficiency  
 hereditary angioedema type I  
 hereditary arterial and articular multiple calcification syndrome +   
 hereditary folate malabsorption  
 hereditary sensory and autonomic neuropathy type 2A  
 hereditary sensory and autonomic neuropathy type 2B  
 hereditary sensory and autonomic neuropathy type 5  
 hereditary sensory and autonomic neuropathy type 6  
 hereditary sensory and autonomic neuropathy type 8  
 hereditary sensory neuropathy type 2C  
 hereditary sensory neuropathy type 4  
 hereditary spastic paraplegia 11  
 hereditary spastic paraplegia 14 
 hereditary spastic paraplegia 15  
 hereditary spastic paraplegia 18  
 hereditary spastic paraplegia 23  
 hereditary spastic paraplegia 24 
 hereditary spastic paraplegia 25 
 hereditary spastic paraplegia 26  
 hereditary spastic paraplegia 27 
 hereditary spastic paraplegia 28  
 hereditary spastic paraplegia 30  
 hereditary spastic paraplegia 32 
 hereditary spastic paraplegia 35  
 hereditary spastic paraplegia 39  
 hereditary spastic paraplegia 43  
 hereditary spastic paraplegia 44  
 hereditary spastic paraplegia 45  
 hereditary spastic paraplegia 46  
 hereditary spastic paraplegia 47  
 hereditary spastic paraplegia 48  
 hereditary spastic paraplegia 49  
 hereditary spastic paraplegia 50  
 hereditary spastic paraplegia 51  
 hereditary spastic paraplegia 52  
 hereditary spastic paraplegia 53  
 hereditary spastic paraplegia 54  
 hereditary spastic paraplegia 55  
 hereditary spastic paraplegia 56  
 hereditary spastic paraplegia 57  
 hereditary spastic paraplegia 5A  
 hereditary spastic paraplegia 61  
 hereditary spastic paraplegia 62  
 hereditary spastic paraplegia 63  
 hereditary spastic paraplegia 64  
 hereditary spastic paraplegia 7  
 hereditary spastic paraplegia 72  
 hereditary spastic paraplegia 74  
 hereditary spastic paraplegia 75  
 hereditary spastic paraplegia 76  
 hereditary spastic paraplegia 77  
 hereditary spastic paraplegia 78  
 hereditary spastic paraplegia 79  
 hereditary spastic paraplegia 81  
 hereditary spastic paraplegia 82  
 hereditary spastic paraplegia 83  
 hereditary spastic paraplegia 84  
 hereditary spastic paraplegia 85  
 hereditary spastic paraplegia 86  
 hereditary spastic paraplegia 9A  
 hereditary spastic paraplegia 9B  
 hereditary spherocytosis type 1  
 hereditary spherocytosis type 3  
 hereditary spherocytosis type 5  
 high molecular weight kininogen deficiency  
 high myopia-sensorineural deafness syndrome  
 histiocytosis-lymphadenopathy plus syndrome  
 HMG-CoA synthase 2 deficiency  
 homocystinuria-megaloblastic anemia cblE type  
 homocystinuria-megaloblastic anemia cblG type  
 hyaline fibromatosis syndrome  
 hydrolethalus syndrome +   
 hydroxykynureninuria  
 hyper IgE recurrent infection syndrome 2  
 hyper IgE recurrent infection syndrome 3  
 hyper IgE recurrent infection syndrome 4  
 hyperekplexia 1  
 hyperekplexia 2  
 hyperekplexia 3  
 hyperekplexia 4  
 hyperphosphatemic familial tumoral calcinosis +   
 hyperprolinemia type 1  
 hyperprolinemia type 2  
 hypertelorism, microtia, facial clefting syndrome 
 hypogonadotropic hypogonadism 10 with or without anosmia  
 hypogonadotropic hypogonadism 11 with or without anosmia  
 hypogonadotropic hypogonadism 12 with or without anosmia  
 hypogonadotropic hypogonadism 13 with or without anosmia  
 hypogonadotropic hypogonadism 18 with or without anosmia  
 hypogonadotropic hypogonadism 22 with or without anosmia  
 hypogonadotropic hypogonadism 23 with or without anosmia  
 hypogonadotropic hypogonadism 24 without anosmia  
 hypogonadotropic hypogonadism 7 with or without anosmia  
 hypogonadotropic hypogonadism 8 with or without anosmia  
 hypomyelinating leukodystrophy 10  
 hypomyelinating leukodystrophy 11  
 hypomyelinating leukodystrophy 12  
 hypomyelinating leukodystrophy 13  
 hypomyelinating leukodystrophy 14  
 Hypomyelinating Leukodystrophy 18  
 hypomyelinating leukodystrophy 2  
 hypomyelinating leukodystrophy 20  
 hypomyelinating leukodystrophy 3  
 hypomyelinating leukodystrophy 4  
 hypomyelinating leukodystrophy 5  
 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
 hypomyelinating leukodystrophy 9  
 hypoparathyroidism-retardation-dysmorphism syndrome  
 hypotrichosis 10 
 hypotrichosis 6  
 hypotrichosis 7  
 hypotrichosis 8  
 hypotrichosis 9 
 hypotrichosis-lymphedema-telangiectasia syndrome +   
 immunodeficiency 10  
 immunodeficiency 11A  
 immunodeficiency 12  
 immunodeficiency 15B  
 immunodeficiency 16  
 immunodeficiency 17  
 immunodeficiency 18  
 immunodeficiency 19  
 immunodeficiency 20  
 immunodeficiency 22  
 immunodeficiency 23  
 immunodeficiency 24  
 immunodeficiency 25  
 immunodeficiency 26  
 immunodeficiency 27A  
 immunodeficiency 28  
 immunodeficiency 29  
 immunodeficiency 30  
 immunodeficiency 31B  
 immunodeficiency 32B  
 immunodeficiency 35  
 immunodeficiency 37  
 immunodeficiency 38  
 immunodeficiency 40  
 immunodeficiency 41  
 immunodeficiency 42  
 immunodeficiency 43  
 immunodeficiency 44  
 immunodeficiency 45  
 immunodeficiency 46  
 immunodeficiency 48  
 immunodeficiency 51  
 immunodeficiency 52  
 immunodeficiency 53  
 immunodeficiency 54  
 immunodeficiency 55  
 immunodeficiency 56  
 immunodeficiency 57  
 immunodeficiency 58  
 immunodeficiency 59  
 immunodeficiency 61  
 immunodeficiency 62  
 immunodeficiency 63  
 immunodeficiency 64  
 immunodeficiency 65  
 immunodeficiency 66  
 immunodeficiency 69  
 immunodeficiency 7  
 immunodeficiency 71  
 immunodeficiency 72  
 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
 immunodeficiency 79  
 immunodeficiency 9  
 immunodeficiency with hyper IgM type 3  
 immunodeficiency with hyper IgM type 5  
 immunodeficiency with hyper-IgM type 2  
 immunodeficiency-centromeric instability-facial anomalies syndrome +   
 immunoglobulin alpha deficiency +   
 infantile cerebellar-retinal degeneration  
 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
 infantile liver failure syndrome 1  
 inflammatory bowel disease 25  
 inflammatory bowel disease 28  
 intellectual developmental disorder with cardiac arrhythmia  
 intellectual developmental disorder with short stature and behavioral abnormalities  
 intermediate spinal muscular atrophy  
 isolated hyperchlorhidrosis  
 isolated microphthalmia 1 
 isolated microphthalmia 2  
 isolated microphthalmia 3  
 isolated microphthalmia 5  
 isolated microphthalmia 6  
 isolated microphthalmia 8  
 isolated sulfite oxidase deficiency  
 Jackson-Weiss syndrome  
 Jalili syndrome  
 JMP syndrome  
 Johanson-Blizzard syndrome  
 junctional epidermolysis bullosa Herlitz type +   
 junctional epidermolysis bullosa non-Herlitz type +   
 junctional epidermolysis bullosa with pyloric atresia  
 Kahrizi syndrome  
 karyomegalic interstitial nephritis  
 Kaufman oculocerebrofacial syndrome  
 Kenny-Caffey syndrome type 1  
 keratosis pilaris atrophicans +   
 Klippel-Feil syndrome 2  
 Klippel-Feil syndrome 4  
 Kohlschutter-Tonz syndrome  
 Kufor-Rakeb syndrome  
 Lafora disease  
 Laron syndrome  
 Larsen-like syndrome B3GAT3 type  
 late-adult onset retinitis pigmentosa 
 Laurence-Moon syndrome  
 Leber congenital amaurosis 1  
 Leber congenital amaurosis 12  
 Leber congenital amaurosis 13  
 Leber congenital amaurosis 14  
 Leber congenital amaurosis 15  
 Leber congenital amaurosis 16  
 Leber congenital amaurosis 17  
 Leber congenital amaurosis 2  
 Leber congenital amaurosis 4  
 Leber congenital amaurosis 5  
 Leber congenital amaurosis 6  
 Leber congenital amaurosis 8  
 Leber congenital amaurosis 9  
 lethal congenital contracture syndrome +   
 leukocyte adhesion deficiency +   
 Leukoencephalomyelopathy  
 Leydig cell hypoplasia +   
 lissencephaly 4  
 lissencephaly 5  
 lissencephaly 6  
 lissencephaly 7 with cerebellar hypoplasia  
 lissencephaly 8  
 lymphoproliferative syndrome 1  
 lymphoproliferative syndrome 2  
 Mahvash disease  
 mandibuloacral dysplasia type B lipodystrophy  
 Martsolf Syndrome +   
 McKusick-Kaufman syndrome  
 Meckel syndrome 13  
 megaconial type congenital muscular dystrophy  
 megalencephalic leukoencephalopathy with subcortical cysts 1  
 megalencephalic leukoencephalopathy with subcortical cysts 2A  
 Meier-Gorlin syndrome 1  
 Meier-Gorlin syndrome 2  
 Meier-Gorlin syndrome 3  
 Meier-Gorlin syndrome 4  
 Meier-Gorlin syndrome 5  
 Meier-Gorlin syndrome 7  
 Meier-Gorlin syndrome 8  
 methemoglobinemia and ambiguous genitalia  
 microcephalic osteodysplastic primordial dwarfism type I  
 microcephalic osteodysplastic primordial dwarfism type II  
 microcephaly and chorioretinopathy 1  
 microcephaly and chorioretinopathy 2  
 microcephaly and chorioretinopathy 3  
 microcephaly, seizures, and developmental delay  
 microphthalmia with limb anomalies  
 microvillus inclusion disease +   
 Microvillus Inclusion Disease 2  
 mismatch repair cancer syndrome +   
 mitochondrial DNA depletion syndrome 1  
 mitochondrial DNA depletion syndrome 11  
 mitochondrial DNA depletion syndrome 12b  
 mitochondrial DNA depletion syndrome 13  
 mitochondrial DNA depletion syndrome 15  
 mitochondrial DNA depletion syndrome 2  
 mitochondrial DNA depletion syndrome 3  
 mitochondrial DNA depletion syndrome 4B  
 mitochondrial DNA depletion syndrome 5  
 mitochondrial DNA depletion syndrome 6  
 mitochondrial DNA depletion syndrome 8A  
 mitochondrial DNA depletion syndrome 8b  
 mitochondrial DNA depletion syndrome 9  
 Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
 mitochondrial pyruvate carrier deficiency  
 mitochondrial trifunctional protein deficiency +   
 Miyoshi muscular dystrophy 1  
 Miyoshi muscular dystrophy 3  
 mosaic variegated aneuploidy syndrome 1  
 mosaic variegated aneuploidy syndrome 2  
 mosaic variegated aneuploidy syndrome 3  
 mucolipidosis III alpha/beta +   
 mucolipidosis III gamma  
 mucopolysaccharidosis Ih  
 mucopolysaccharidosis Ih/s  
 mucopolysaccharidosis IVA  
 mucopolysaccharidosis type IIIA  
 mucopolysaccharidosis type IIIB  
 mucopolysaccharidosis type IIIC  
 mucopolysaccharidosis type IIID  
 mucopolysaccharidosis type IVB  
 mucosulfatidosis  
 mulibrey nanism  
 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
 multiple congenital anomalies-hypotonia-seizures syndrome 1  
 multiple congenital anomalies-hypotonia-seizures syndrome 3  
 multiple epiphyseal dysplasia 4  
 multiple epiphyseal dysplasia 7  
 multiple intestinal atresia  
 multiple mitochondrial dysfunctions syndrome 1  
 multiple mitochondrial dysfunctions syndrome 2  
 multiple mitochondrial dysfunctions syndrome 3  
 multiple mitochondrial dysfunctions syndrome 4  
 multiple mitochondrial dysfunctions syndrome 5  
 multiple mitochondrial dysfunctions syndrome 6  
 muscular dystrophy-dystroglycanopathy type B1  
 muscular dystrophy-dystroglycanopathy type B15  
 muscular dystrophy-dystroglycanopathy type B2  
 muscular dystrophy-dystroglycanopathy type B3  
 muscular dystrophy-dystroglycanopathy type B4  
 muscular dystrophy-dystroglycanopathy type B5  
 muscular dystrophy-dystroglycanopathy type B6  
 myofibrillar myopathy 10  
 myofibrillar myopathy 7  
 myofibrillar myopathy 8  
 myopathy with extrapyramidal signs  
 N-acetylglutamate synthase deficiency  
 Native American myopathy  
 nemaline myopathy 1  
 nemaline myopathy 10  
 nemaline myopathy 11  
 nemaline myopathy 2  
 nemaline myopathy 3  
 nemaline myopathy 5  
 nemaline myopathy 7  
 nemaline myopathy 8  
 nemaline myopathy 9  
 neonatal diabetes mellitus with congenital hypothyroidism  
 neonatal-onset type II citrullinemia  
 nephrogenic diabetes insipidus type 2  
 nephronophthisis +   
 nephrotic syndrome type 1  
 nephrotic syndrome type 10  
 nephrotic syndrome type 11  
 nephrotic syndrome type 12  
 nephrotic syndrome type 13  
 nephrotic syndrome type 14  
 nephrotic syndrome type 15  
 nephrotic syndrome type 16  
 nephrotic syndrome type 17  
 nephrotic syndrome type 18  
 nephrotic syndrome type 19  
 nephrotic syndrome type 2  
 nephrotic syndrome type 21  
 nephrotic syndrome type 22  
 nephrotic syndrome type 23  
 nephrotic syndrome type 3  
 nephrotic syndrome type 5  
 nephrotic syndrome type 6  
 nephrotic syndrome type 7  
 nephrotic syndrome type 8  
 nephrotic syndrome type 9  
 Nestor-Guillermo progeria syndrome  
 neurodegeneration with brain iron accumulation 2A  
 neurodegeneration with brain iron accumulation 2B  
 neurodegeneration with brain iron accumulation 4  
 neurodegeneration with brain iron accumulation 6  
 neurodevelopmental disorder with midbrain and hindbrain malformations  
 neuronal ceroid lipofuscinosis 1  
 neuronal ceroid lipofuscinosis 10  
 neuronal ceroid lipofuscinosis 11  
 neuronal ceroid lipofuscinosis 13  
 neuronal ceroid lipofuscinosis 2  
 neuronal ceroid lipofuscinosis 3  
 neuronal ceroid lipofuscinosis 5  
 neuronal ceroid lipofuscinosis 6A  
 neuronal ceroid lipofuscinosis 6B  
 neuronal ceroid lipofuscinosis 7  
 neuronal ceroid lipofuscinosis 8  
 neuronal ceroid lipofuscinosis 8 northern epilepsy variant  
 neuronal ceroid lipofuscinosis 9 
 Nezelof syndrome 
 NGLY1-deficiency  
 Nijmegen breakage syndrome +   
 nonphotosensitive trichothiodystrophy +   
 nonphotosensitive trichothiodystrophy 4  
 nonphotosensitive trichothiodystrophy 6  
 nonphotosensitive trichothiodystrophy 7  
 nonsyndromic congenital nail disorder 3  
 nonsyndromic congenital nail disorder 4  
 nonsyndromic congenital nail disorder 9 
 Noonan syndrome 2  
 Norman-Roberts syndrome  
 nuclear type mitochondrial complex I deficiency 1  
 nuclear type mitochondrial complex I deficiency 10  
 nuclear type mitochondrial complex I deficiency 11  
 nuclear type mitochondrial complex I deficiency 13  
 nuclear type mitochondrial complex I deficiency 14  
 nuclear type mitochondrial complex I deficiency 15  
 nuclear type mitochondrial complex I deficiency 16  
 nuclear type mitochondrial complex I deficiency 17  
 nuclear type mitochondrial complex I deficiency 18  
 nuclear type mitochondrial complex I deficiency 19  
 nuclear type mitochondrial complex I deficiency 2  
 nuclear type mitochondrial complex I deficiency 20  
 nuclear type mitochondrial complex I deficiency 21  
 nuclear type mitochondrial complex I deficiency 22  
 nuclear type mitochondrial complex I deficiency 23  
 nuclear type mitochondrial complex I deficiency 24  
 nuclear type mitochondrial complex I deficiency 25  
 nuclear type mitochondrial complex I deficiency 26  
 nuclear type mitochondrial complex I deficiency 27  
 nuclear type mitochondrial complex I deficiency 28  
 nuclear type mitochondrial complex I deficiency 29  
 nuclear type mitochondrial complex I deficiency 3  
 nuclear type mitochondrial complex I deficiency 31  
 nuclear type mitochondrial complex I deficiency 32  
 nuclear type mitochondrial complex I deficiency 33  
 nuclear type mitochondrial complex I deficiency 34  
 nuclear type mitochondrial complex I deficiency 35  
 nuclear type mitochondrial complex I deficiency 4  
 nuclear type mitochondrial complex I deficiency 5  
 nuclear type mitochondrial complex I deficiency 6  
 nuclear type mitochondrial complex I deficiency 7  
 nuclear type mitochondrial complex I deficiency 8  
 nuclear type mitochondrial complex I deficiency 9  
 oculocutaneous albinism +   
 Oguchi disease-1  
 Oguchi disease-2  
 Oliver-McFarlane syndrome  
 omodysplasia 1  
 optic atrophy 11  
 optic atrophy 6 
 optic atrophy 7  
 optic atrophy 9  
 optic disc anomalies with retinal and/or macular dystrophy  
 orofacial cleft 14 
 orofacial cleft 7 +   
 orofaciodigital syndrome III  
 orofaciodigital syndrome IV  
 orofaciodigital syndrome IX  
 orofaciodigital syndrome V  
 orofaciodigital syndrome XVI  
 orofaciodigital syndrome XVII  
 osteogenesis imperfecta type 10  
 osteogenesis imperfecta type 11  
 osteogenesis imperfecta type 12  
 osteogenesis imperfecta type 13  
 osteogenesis imperfecta type 15  
 osteogenesis imperfecta type 17  
 osteogenesis imperfecta type 18  
 osteogenesis imperfecta type 20  
 osteogenesis imperfecta type 21  
 osteogenesis imperfecta type 7  
 osteogenesis imperfecta type 8  
 osteogenesis imperfecta type 9  
 osteoporosis-pseudoglioma syndrome  
 osteosclerotic metaphyseal dysplasia  
 otospondylomegaepiphyseal dysplasia, autosomal recessive  
 otulipenia  
 ovarian dysgenesis 1  
 ovarian dysgenesis 3  
 ovarian dysgenesis 4  
 ovarian dysgenesis 5  
 ovarian dysgenesis 6  
 ovarian dysgenesis 7  
 oxoglutarate dehydrogenase deficiency  
 pantothenate kinase-associated neurodegeneration +   
 Papillon-Lefevre disease +   
 Parkinson's disease 14  
 Parkinson's disease 15  
 Parkinson's disease 19A  
 Parkinson's disease 2  
 Parkinson's disease 20  
 Parkinson's disease 23  
 Parkinson's disease 6  
 Parkinson's disease 7  
 Pendred syndrome  
 pentosuria  
 permanent neonatal diabetes mellitus +   
 peroxisome biogenesis disorder 14B  
 peroxisome biogenesis disorder 1B  
 peroxisome biogenesis disorder 2B  
 peroxisome biogenesis disorder 3B  
 Perrault syndrome +   
 PHARC syndrome  
 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
 photosensitive trichothiodystrophy 1  
 photosensitive trichothiodystrophy 2  
 photosensitive trichothiodystrophy 3  
 Pierson syndrome  
 Pitt-Hopkins-like syndrome 2  
 plasminogen deficiency type I  
 platelet-type bleeding disorder 10  
 platelet-type bleeding disorder 11  
 platelet-type bleeding disorder 18  
 platelet-type bleeding disorder 19  
 platelet-type bleeding disorder 8  
 poikiloderma with neutropenia  
 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
 pontocerebellar hypoplasia type 11  
 pontocerebellar hypoplasia type 12  
 pontocerebellar hypoplasia type 13  
 pontocerebellar hypoplasia type 14  
 pontocerebellar hypoplasia type 15  
 pontocerebellar hypoplasia type 16  
 pontocerebellar hypoplasia type 1A  
 pontocerebellar hypoplasia type 1B  
 pontocerebellar hypoplasia type 1C  
 pontocerebellar hypoplasia type 1D  
 pontocerebellar hypoplasia type 1E  
 pontocerebellar hypoplasia type 1F  
 pontocerebellar hypoplasia type 2A  
 pontocerebellar hypoplasia type 2B  
 pontocerebellar hypoplasia type 2C  
 pontocerebellar hypoplasia type 2D  
 pontocerebellar hypoplasia type 2E  
 pontocerebellar hypoplasia type 2F  
 postaxial acrofacial dysostosis  
 primary autosomal recessive microcephaly +   
 primary ciliary dyskinesia 38  
 primary ciliary dyskinesia 39  
 primary ciliary dyskinesia 40  
 primary ciliary dyskinesia 41  
 primary ciliary dyskinesia 42  
 primary ciliary dyskinesia 44  
 primary ciliary dyskinesia 45  
 primary coenzyme Q10 deficiency 9  
 primary ovarian insufficiency 10  
 primary ovarian insufficiency 12  
 primary ovarian insufficiency 13  
 primary ovarian insufficiency 14  
 primary ovarian insufficiency 15  
 primary ovarian insufficiency 18  
 primary ovarian insufficiency 19  
 primary ovarian insufficiency 8  
 primary ovarian insufficiency 9  
 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
 progressive familial intrahepatic cholestasis 1  
 progressive familial intrahepatic cholestasis 2  
 progressive familial intrahepatic cholestasis 3  
 progressive familial intrahepatic cholestasis 4  
 progressive familial intrahepatic cholestasis 5  
 progressive myoclonus epilepsy 10  
 progressive myoclonus epilepsy 1A  
 progressive myoclonus epilepsy 1B  
 progressive myoclonus epilepsy 3  
 progressive myoclonus epilepsy 4  
 progressive myoclonus epilepsy 6  
 progressive myoclonus epilepsy 8  
 progressive myoclonus epilepsy 9  
 progressive pseudorheumatoid arthropathy of childhood  
 prolidase deficiency  
 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
 proprotein convertase 1/3 deficiency  
 prothrombin deficiency +   
 prune belly syndrome +   
 pseudo-TORCH syndrome 1  
 pseudoxanthoma elasticum +   
 pulmonary venoocclusive disease 2  
 purine nucleoside phosphorylase deficiency  
 pycnodysostosis  
 pyridoxine-dependent epilepsy  
 pyruvate kinase deficiency of red cells  
 rapadilino syndrome  
 recessive dystrophic epidermolysis bullosa  
 restrictive dermopathy 1  
 reticular dysgenesis  
 retinal cone dystrophy 3B  
 retinal dystrophy with leukodystrophy  
 retinitis pigmentosa 1  
 retinitis pigmentosa 12  
 retinitis pigmentosa 14  
 retinitis pigmentosa 19  
 retinitis pigmentosa 20  
 retinitis pigmentosa 25  
 retinitis pigmentosa 26  
 retinitis pigmentosa 28  
 retinitis pigmentosa 29 
 retinitis pigmentosa 35  
 retinitis pigmentosa 37  
 retinitis pigmentosa 38  
 retinitis pigmentosa 4  
 retinitis pigmentosa 40  
 retinitis pigmentosa 41  
 retinitis pigmentosa 45  
 retinitis pigmentosa 50  
 retinitis pigmentosa 56  
 retinitis pigmentosa 57  
 retinitis pigmentosa 59  
 retinitis pigmentosa 62  
 retinitis pigmentosa 68  
 retinitis pigmentosa 69  
 retinitis pigmentosa 7  
 retinitis pigmentosa 71  
 retinitis pigmentosa 72  
 retinitis pigmentosa 73  
 retinitis pigmentosa 74  
 retinitis pigmentosa 75  
 retinitis pigmentosa 77  
 retinitis pigmentosa 81  
 retinitis pigmentosa 84  
 retinitis pigmentosa 85  
 retinitis pigmentosa 88  
 retinitis pigmentosa 90  
 retinitis pigmentosa with or without situs inversus  
 rhizomelic chondrodysplasia punctata +   
 Riddle syndrome  
 right atrial isomerism  
 rigid spine muscular dystrophy 1  
 Ritscher-Schinzel syndrome 1  
 RNASET2-deficient cystic leukoencephalopathy  
 Roberts syndrome  
 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
 Ruijs-Aalfs syndrome  
 Saldino-Noonan syndrome  
 salt and pepper syndrome  
 Sandestig-Stefanova syndrome  
 sarcosinemia  
 Schimke immuno-osseous dysplasia  
 Schindler disease +   
 Schinzel type phocomelia  
 Schwartz-Jampel syndrome 1  
 sclerosteosis 1  
 sclerosteosis 2  
 Seckel syndrome +   
 Sengers syndrome  
 Senior-Loken syndrome +   
 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
 sepiapterin reductase deficiency  
 severe combined immunodeficiency with sensitivity to ionizing radiation  
 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +   
 severe congenital neutropenia 3  
 severe congenital neutropenia 4 +   
 severe congenital neutropenia 5  
 severe congenital neutropenia 6  
 severe congenital neutropenia 7  
 short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
 short-rib thoracic dysplasia 10 with or without polydactyly  
 short-rib thoracic dysplasia 11 with or without polydactyly  
 short-rib thoracic dysplasia 13 with or without polydactyly  
 short-rib thoracic dysplasia 14 with polydactyly  
 short-rib thoracic dysplasia 18 with polydactyly  
 short-rib thoracic dysplasia 19 with or without polydactyly  
 short-rib thoracic dysplasia 6 with or without polydactyly  
 short-rib thoracic dysplasia 7 with or without polydactyly  
 short-rib thoracic dysplasia 8 with or without polydactyly  
 short-rib thoracic dysplasia 9 with or without polydactyly  
 sickle cell anemia +   
 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
 Silverman-Handmaker type dyssegmental dysplasia  
 sitosterolemia +   
 Sjogren-Larsson syndrome +   
 SOST-related sclerosing bone dysplasia  
 Sotos syndrome 3  
 spastic ataxia 2  
 spastic ataxia 3  
 spastic ataxia 4  
 spastic ataxia 5  
 spastic ataxia 8  
 spermatogenic failure 13  
 spermatogenic failure 14  
 spermatogenic failure 15  
 spermatogenic failure 16  
 spermatogenic failure 17  
 spermatogenic failure 18  
 spermatogenic failure 19  
 spermatogenic failure 20  
 spermatogenic failure 21  
 spermatogenic failure 22  
 spermatogenic failure 23  
 spermatogenic failure 24  
 spermatogenic failure 25  
 spermatogenic failure 26  
 spermatogenic failure 27  
 spermatogenic failure 28  
 spermatogenic failure 29  
 spermatogenic failure 30  
 spermatogenic failure 31  
 spermatogenic failure 33  
 spermatogenic failure 34  
 spermatogenic failure 35  
 spermatogenic failure 37  
 spermatogenic failure 38  
 spermatogenic failure 39  
 spermatogenic failure 40  
 spermatogenic failure 41  
 spermatogenic failure 42  
 spermatogenic failure 43  
 spermatogenic failure 44  
 spermatogenic failure 45  
 spermatogenic failure 46  
 spermatogenic failure 47  
 spermatogenic failure 48  
 spermatogenic failure 49  
 spermatogenic failure 5  
 spermatogenic failure 50  
 spermatogenic failure 51  
 spermatogenic failure 52  
 spermatogenic failure 53  
 spermatogenic failure 54  
 spermatogenic failure 55  
 spermatogenic failure 56  
 spermatogenic failure 57  
 spermatogenic failure 58  
 spermatogenic failure 59  
 spermatogenic failure 6  
 spermatogenic failure 60  
 spermatogenic failure 61  
 spermatogenic failure 62  
 spermatogenic failure 63  
 spermatogenic failure 64  
 spermatogenic failure 65  
 spermatogenic failure 7  
 spermatogenic failure 9  
 spinal muscular atrophy with progressive myoclonic epilepsy  
 split hand-foot malformation 1 with sensorineural hearing loss  
 split hand-foot malformation 6  
 SPOAN syndrome  
 spondylocarpotarsal synostosis syndrome  
 Spondylocostal Dysostosis, Autosomal Recessive +   
 spondyloepimetaphyseal dysplasia with joint laxity type 1  
 spondyloepimetaphyseal dysplasia with joint laxity type 3  
 spondyloepimetaphyseal dysplasia, Genevieve-type  
 spondyloepimetaphyseal dysplasia, Pakistani type  
 spondyloepimetaphyseal dysplasia, Sponastrime type  
 spondyloepiphyseal dysplasia Kondo-Fu type  
 spondyloepiphyseal dysplasia tarda with characteristic facies 
 spondyloepiphyseal dysplasia tarda with intellectual disability 
 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
 spondylometaepiphyseal dysplasia, short limb-hand type  
 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
 spondylometaphyseal dysplasia Sedaghatian type  
 spondylometaphyseal dysplasia with cone-rod dystrophy  
 spondylometaphyseal dysplasia with corneal dystrophy  
 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
 syndromic microphthalmia 9  
 T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
 temtamy preaxial brachydactyly syndrome  
 Temtamy syndrome  
 tetraamelia syndrome 1  
 tetraamelia syndrome 2  
 thalassemia +   
 thiamine-responsive megaloblastic anemia syndrome  
 thrombocytopenia-absent radius syndrome  
 thyroid dyshormonogenesis 1  
 thyroid dyshormonogenesis 2A  
 thyroid dyshormonogenesis 3  
 thyroid dyshormonogenesis 4  
 thyroid dyshormonogenesis 5  
 thyroid dyshormonogenesis 6  
 torsion dystonia 17 
 torsion dystonia 2  
 transient bullous dermolysis of the newborn  
 transient infantile liver failure  
 Treacher Collins syndrome 2  
 Treacher Collins syndrome 3  
 trichohepatoenteric syndrome +   
 trimethylaminuria  
 triple-A syndrome  
 Troyer syndrome  
 Tukel syndrome 
 Ullrich congenital muscular dystrophy +   
 urocanase deficiency  
 urofacial syndrome +   
 Usher syndrome +   
 UV-sensitive syndrome +   
 Van den Ende-Gupta syndrome  
 Van Maldergem syndrome +   
 ventriculomegaly - cystic kidney disease  
 Vici syndrome  
 visual impairment and progressive phthisis bulbi  
 vitamin D-dependent rickets type 1A  
 vitamin D-dependent rickets type 1B  
 vitamin D-dependent rickets type 2A  
 Walker-Warburg syndrome +   
 Warburg micro syndrome +   
 Warsaw breakage syndrome  
 Werner syndrome +   
 Wiedemann-Rautenstrauch syndrome  
 Wolcott-Rallison syndrome  
 Wolfram syndrome 1  
 Wolfram syndrome 2  
 Woodhouse-Sakati syndrome  
 wrinkly skin syndrome  
 xeroderma pigmentosum +   
 XFE progeroid syndrome  
 Yunis-Varon syndrome  
 Zellweger syndrome +