Term Name: autosomal recessive disease
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0050737]   ( DOID:0050737 )

Relationships
is a type of: autosomal genetic disease
has subtype: 2-aminoadipic 2-oxoadipic aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxyisobutryl-CoA hydrolase deficiency 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 17-beta hydroxysteroid dehydrogenase 3 deficiency 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 amyotrophic lateral sclerosis type 1 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 type I autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type III autosomal recessive distal hereditary motor neuronopathy autosomal recessive dyskeratosis congenita 1 autosomal recessive dyskeratosis congenita 2 autosomal recessive dyskeratosis congenita 3 autosomal recessive dyskeratosis congenita 4 autosomal recessive dyskeratosis congenita 5 autosomal recessive dyskeratosis congenita 6 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 polycystic kidney disease autosomal recessive progressive external ophthalmoplegia 1 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 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 3 axial spondylometaphyseal dysplasia Bardet-Biedl syndrome Becker disease Behr syndrome benign recurrent intrahepatic cholestasis 1 benign recurrent intrahepatic cholestasis 2 bent bone dysplasia syndrome 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 bradyopsia 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 Caroli syndrome cartilage-hair hypoplasia cataract 9 multiple types 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 CD3epsilon deficiency CD3gamma deficiency CEDNIK syndrome cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome cerebellar atrophy, visual impairment, and psychomotor retardation cerebellofaciodental syndrome cerebral folate receptor alpha deficiency 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 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities CHIME syndrome chondrodysplasia with joint dislocations gPAPP type choreaacanthocytosis classic dopamine transporter deficiency syndrome 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 2 combined oxidative phosphorylation deficiency 3 combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation deficiency 5 combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation deficiency 8 combined oxidative phosphorylation deficiency 9 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 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 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 40 combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency 44 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 50 combined oxidative phosphorylation deficiency 51 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 57 common variable immunodeficiency Compton-North congenital myopathy cone-rod dystrophy 21 cone-rod dystrophy 22 congenital adrenal insufficiency congenital afibrinogenemia congenital amegakaryocytic thrombocytopenia congenital amegakaryocytic thrombocytopenia 2 congenital diarrhea 5 with tufting enteropathy congenital diarrhea 7 with exudative enteropathy congenital disorder of deglycosylation 1 congenital disorder of deglycosylation 2 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 glutamine deficiency 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 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 with cataracts and intellectual disability congenital muscular dystrophy-dystroglycanopathy type A congenital myasthenic syndrome 1B 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 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 20 congenital myasthenic syndrome 21 congenital myasthenic syndrome 22 congenital myopathy 1A congenital myopathy 2B congenital myopathy 5 congenital myopathy 6 congenital myopathy 9A congenital myopathy 9B congenital myopathy 10B congenital myopathy 14 congenital myopathy 17 congenital myopathy 18 congenital myopathy 19 congenital myopathy 20 congenital myopathy 21 congenital myopathy 22A congenital myopathy 22B 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 developmental and epileptic encephalopathy 3 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 31B 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 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 developmental and epileptic encephalopathy 95 developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy 105 developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy 110 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 dimethylglycine dehydrogenase deficiency diphthamide deficiency syndrome distal arthrogryposis type 5D distal myopathy with anterior tibial onset DNA ligase IV deficiency Donnai-Barrow syndrome Donohue syndrome DOORS syndrome dopa-responsive dystonia Dubowitz syndrome Dyggve-Melchior-Clausen disease dystonia 16 dystonia 22, adult-onset dystonia 22, juvenile-onset dystonia 27 dystonia 31 dystonia 32 dystonia 33 dystonia 35, childhood-onset dystonia 37, early-onset with striatal lesions early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome EAST syndrome ectodermal dysplasia 4 ectodermal dysplasia 5 ectodermal dysplasia 6 ectodermal dysplasia 7 ectodermal dysplasia 8 ectodermal dysplasia 9 ectodermal dysplasia 10B ectodermal dysplasia 11B ectodermal dysplasia 13 ectodermal dysplasia 14 ectodermal dysplasia 15 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 encephalopathy due to defective mitochondrial and peroxisomal fission 2 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 GPIHBP1 deficiency 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 renal glucosuria 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 S Fanconi anemia complementation group T Fanconi anemia complementation group U Fanconi anemia complementation group V Fanconi anemia complementation group W Fanconi renotubular syndrome 2 Fanconi renotubular syndrome 5 Fanconi-Bickel syndrome 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 foveal hypoplasia 2 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 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 glucose-galactose malabsorption 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 glycine encephalopathy glycogen storage disease Ia glycogen storage disease Ib glycogen storage disease Ic glycogen storage disease II glycogen storage disease III glycogen storage disease IV glycogen storage disease IXc glycogen storage disease V glycogen storage disease VI glycogen storage disease VII 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 Halperin-Birk syndrome Harel-Yoon syndrome Heimler syndrome 1 Heimler syndrome 2 Hengel-Maroofian-Schols syndrome 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 5A hereditary spastic paraplegia 7 hereditary spastic paraplegia 9B 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 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 61 hereditary spastic paraplegia 62 hereditary spastic paraplegia 63 hereditary spastic paraplegia 64 hereditary spastic paraplegia 70 hereditary spastic paraplegia 72A hereditary spastic paraplegia 74 hereditary spastic paraplegia 75 hereditary spastic paraplegia 76 hereditary spastic paraplegia 77 hereditary spastic paraplegia 78 hereditary spastic paraplegia 79B 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 87 hereditary spastic paraplegia 89 hereditary spherocytosis type 1 hereditary spherocytosis type 3 hereditary spherocytosis type 5 Hermansky-Pudlak syndrome 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 hypervalinemia and hyperleucine-isoleucinemia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia 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 hypomyelinating leukodystrophy 2 hypomyelinating leukodystrophy 3 hypomyelinating leukodystrophy 4 hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy 7 hypomyelinating leukodystrophy 8 hypomyelinating leukodystrophy 9 hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 11 hypomyelinating leukodystrophy 12 hypomyelinating leukodystrophy 13 hypomyelinating leukodystrophy 14 hypomyelinating leukodystrophy 15 hypomyelinating leukodystrophy 17 hypomyelinating leukodystrophy 18 hypomyelinating leukodystrophy 20 hypomyelinating leukodystrophy 21 hypomyelinating leukodystrophy 23 hypomyelinating leukodystrophy 26 hypoparathyroidism-retardation-dysmorphism syndrome hypotrichosis 6 hypotrichosis 7 hypotrichosis 8 hypotrichosis 9 hypotrichosis 10 hypotrichosis 15 hypotrichosis-lymphedema-telangiectasia syndrome immunodeficiency 7 immunodeficiency 9 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 71 immunodeficiency 72 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia immunodeficiency 79 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 infantile parkinsonism-dystonia 2 inflammatory bowel disease 25 inflammatory bowel disease 28 inflammatory poikiloderma with hair abnormalities and acral keratoses intellectual developmental disorder with cardiac arrhythmia intellectual developmental disorder with short stature and behavioral abnormalities intermediate spinal muscular atrophy interstitial lung disease 1 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 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 2 Leber congenital amaurosis 4 Leber congenital amaurosis 5 Leber congenital amaurosis 6 Leber congenital amaurosis 8 Leber congenital amaurosis 9 Leber congenital amaurosis 12 Leber congenital amaurosis 13 Leber congenital amaurosis 14 Leber congenital amaurosis 15 Leber congenital amaurosis 16 Leber congenital amaurosis 17 lethal congenital contracture syndrome leukocyte adhesion deficiency leukoencephalopathy with vanishing white matter Leydig cell hypoplasia lissencephaly 4 lissencephaly 5 lissencephaly 6 lissencephaly 7 with cerebellar hypoplasia lissencephaly 8 lymphoproliferative syndrome 1 lymphoproliferative syndrome 2 lysosomal acid lipase deficiency Mahvash Disease mal de Meleda mandibuloacral dysplasia type B lipodystrophy Marinesco-Sjogren syndrome 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 microcephaly, short stature, and limb abnormalities microphthalmia with limb anomalies microvillus inclusion disease mismatch repair cancer syndrome mitochondrial complex IV deficiency nuclear type 1 mitochondrial complex IV deficiency nuclear type 2 mitochondrial complex IV deficiency nuclear type 3 mitochondrial complex IV deficiency nuclear type 4 mitochondrial complex IV deficiency nuclear type 6 mitochondrial complex IV deficiency nuclear type 7 mitochondrial complex IV deficiency nuclear type 8 mitochondrial complex IV deficiency nuclear type 9 mitochondrial complex IV deficiency nuclear type 10 mitochondrial complex IV deficiency nuclear type 11 mitochondrial complex IV deficiency nuclear type 12 mitochondrial complex IV deficiency nuclear type 13 mitochondrial complex IV deficiency nuclear type 14 mitochondrial complex IV deficiency nuclear type 15 mitochondrial complex IV deficiency nuclear type 16 mitochondrial complex IV deficiency nuclear type 17 mitochondrial complex IV deficiency nuclear type 18 mitochondrial complex IV deficiency nuclear type 19 mitochondrial complex IV deficiency nuclear type 20 mitochondrial complex IV deficiency nuclear type 21 mitochondrial complex IV deficiency nuclear type 22 mitochondrial complex IV deficiency nuclear type 23 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial complex V (ATP synthase) deficiency nuclear type 5 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 mitochondrial DNA depletion syndrome 1 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 7 mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome 8b mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome 12b mitochondrial DNA depletion syndrome 13 mitochondrial DNA depletion syndrome 15 mitochondrial DNA depletion syndrome 16 mitochondrial DNA depletion syndrome 16B mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 20 mitochondrial pyruvate carrier deficiency mitochondrial short-chain enoyl-CoA hydratase 1 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 mosaic variegated aneuploidy syndrome 4 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 congenital anomalies-hypotonia-seizures syndrome 4 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 B2 muscular dystrophy-dystroglycanopathy type B3 muscular dystrophy-dystroglycanopathy type B4 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6 muscular dystrophy-dystroglycanopathy type B14 muscular dystrophy-dystroglycanopathy type B15 muscular dystrophy-dystroglycanopathy type C8 muscular dystrophy-dystroglycanopathy type C12 myofibrillar myopathy 1 myofibrillar myopathy 7 myofibrillar myopathy 8 myofibrillar myopathy 10 myopathy with extrapyramidal signs N-acetylglutamate synthase deficiency Nagashima-type palmoplantar keratosis Nasu-Hakola disease Native American myopathy nemaline myopathy 1 nemaline myopathy 2 nemaline myopathy 3 nemaline myopathy 5A nemaline myopathy 5B nemaline myopathy 5B nemaline myopathy 7 nemaline myopathy 8 nemaline myopathy 9 nemaline myopathy 10 nemaline myopathy 11 neonatal diabetes mellitus with congenital hypothyroidism neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome neonatal-onset type II citrullinemia nephrogenic diabetes insipidus type 2 nephronophthisis nephrotic syndrome type 1 nephrotic syndrome type 2 nephrotic syndrome type 3 nephrotic syndrome type 5 nephrotic syndrome type 6 nephrotic syndrome type 7 nephrotic syndrome type 8 nephrotic syndrome type 9 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 21 nephrotic syndrome type 22 nephrotic syndrome type 23 Nestor-Guillermo progeria syndrome Netherton 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 cardiomyopathy, spasticity, and brain abnormalities neurodevelopmental disorder with midbrain and hindbrain malformations neuronal ceroid lipofuscinosis 1 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 neuronal ceroid lipofuscinosis 10 neuronal ceroid lipofuscinosis 11 neuronal ceroid lipofuscinosis 13 Nezelof syndrome Nijmegen breakage syndrome 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 2 nuclear type mitochondrial complex I deficiency 3 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 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 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 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 oculocutaneous albinism Oguchi disease-1 Oguchi disease-2 Oliver-McFarlane syndrome omodysplasia 1 optic atrophy 6 optic atrophy 7 optic atrophy 9 optic atrophy 11 optic disc anomalies with retinal and/or macular dystrophy orofacial cleft 7 orofacial cleft 14 orofaciodigital syndrome II orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome IX orofaciodigital syndrome V orofaciodigital syndrome XIV orofaciodigital syndrome XIX orofaciodigital syndrome XVI orofaciodigital syndrome XVII orofaciodigital syndrome XVIII orofaciodigital syndrome XX osteogenesis imperfecta type 7 osteogenesis imperfecta type 8 osteogenesis imperfecta type 9 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 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 Paget's disease of bone 5 palmoplantar keratoderma and woolly hair pancreatic agenesis 1 pancreatic agenesis 2 pantothenate kinase-associated neurodegeneration Papillon-Lefevre disease Parkinson's disease 2 Parkinson's disease 6 Parkinson's disease 7 Parkinson's disease 14 Parkinson's disease 15 Parkinson's disease 19A Parkinson's disease 20 Parkinson's disease 23 Parkinson's disease 25 peeling skin syndrome Pendred Syndrome pentosuria permanent neonatal diabetes mellitus peroxisomal acyl-CoA oxidase deficiency peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 2B peroxisome biogenesis disorder 3B Peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 8B Peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 10B Peroxisome biogenesis disorder 11B peroxisome biogenesis disorder 14B Perrault syndrome PHARC syndrome photosensitive trichothiodystrophy 1 photosensitive trichothiodystrophy 2 photosensitive trichothiodystrophy 3 Pierson syndrome Pitt-Hopkins-like syndrome 2 PLACK syndrome plasminogen deficiency type I platelet-type bleeding disorder 8 platelet-type bleeding disorder 10 platelet-type bleeding disorder 11 platelet-type bleeding disorder 18 platelet-type bleeding disorder 19 poikiloderma with neutropenia polyhydramnios, megalencephaly, and symptomatic epilepsy 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 pontocerebellar hypoplasia type 11 pontocerebellar hypoplasia type 12 pontocerebellar hypoplasia type 13 pontocerebellar hypoplasia type 14 pontocerebellar hypoplasia type 15 pontocerebellar hypoplasia type 16 poor metabolism of thiopurines postaxial acrofacial dysostosis preaxial polydactyly I 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 8 primary ovarian insufficiency 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 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 leukoencephalopathy with ovarian failure 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 myoclonus epilepsy 10 progressive pseudorheumatoid arthropathy of childhood prolidase deficiency proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome proprotein convertase 1/3 deficiency proteasome-associated autoinflammatory syndrome 1 proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome 5 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 4 retinitis pigmentosa 7 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 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 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 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, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 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 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 sickle cell anemia sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Silverman-Handmaker type dyssegmental dysplasia sitosterolemia 1 sitosterolemia 2 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 spastic quadriplegic cerebral palsy 3 spermatogenic failure 5 spermatogenic failure 6 spermatogenic failure 7 spermatogenic failure 9 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 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 60 spermatogenic failure 61 spermatogenic failure 62 spermatogenic failure 63 spermatogenic failure 64 spermatogenic failure 65 spermatogenic failure 66 spermatogenic failure 67 spermatogenic failure 68 spermatogenic failure 69 spermatogenic failure 70 spermatogenic failure 71 spermatogenic failure 72 spermatogenic failure 73 spermatogenic failure 74 spermatogenic failure 75 spermatogenic failure 76 spermatogenic failure 77 spermatogenic failure 78 spermatogenic failure 79 spermatogenic failure 80 spermatogenic failure 81 spermatogenic failure 82 spermatogenic failure 83 spermatogenic failure 84 spermatogenic failure 85 spermatogenic failure 86 spermatogenic failure 87 spermatogenic failure 88 spermatogenic failure 89 spermatogenic failure 90 spermatogenic failure 91 spermatogenic failure 92 spermatogenic failure 93 spermatogenic failure 94 spermatogenic failure 95 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 1 spondylocostal dysostosis 2 spondylocostal dysostosis 3 spondylocostal dysostosis 4 spondylocostal dysostosis 6 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 TANGO2-related metabolic encephalopathy and arrythmias 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 2 torsion dystonia 17 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 WHIM syndrome 2 Wiedemann-Rautenstrauch syndrome Wolcott-Rallison syndrome Wolfram syndrome 1 Wolfram syndrome 2 Woodhouse-Sakati syndrome wrinkly skin syndrome xanthinuria xeroderma pigmentosum XFE progeroid syndrome Yoon-Bellen neurodevelopmental syndrome Yunis-Varon syndrome Zaki syndrome Zellweger syndrome