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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive disease
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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. (DO)
Synonyms:primary_id: RDO:9002040
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  disease 15851
    Developmental Diseases 9270
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8085
        genetic disease 7598
          monogenic disease 5251
            autosomal genetic disease 4215
              autosomal recessive disease 2295
                2-aminoadipic 2-oxoadipic aciduria 1
                3-M syndrome + 3
                3-Methylcrotonyl-CoA carboxylase deficiency + 2
                3-methylglutaconic aciduria type 1 1
                3-methylglutaconic aciduria type 3 1
                3-methylglutaconic aciduria type 5 1
                3-methylglutaconic aciduria type 8 2
                3-methylglutaconic aciduria type 9 1
                3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
                3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
                3MC syndrome + 17
                46,XY sex reversal 5 1
                46,XY sex reversal 7 1
                46,XY sex reversal 8 2
                ABCD syndrome 1
                AGAT deficiency 9
                ARC syndrome + 2
                Alkuraya-Kucinskas syndrome 1
                Alstrom syndrome 1
                Antley-Bixler syndrome + 3
                Athabaskan brainstem dysgenesis syndrome 2
                Autosomal Recessive Cutis Laxa + 34
                Autosomal Recessive Dyskeratosis Congenita + 13
                Autosomal Recessive Robinow Syndrome 2 1
                Autosomal Recessive Woolly Hair + 3
                Bardet-Biedl syndrome + 42
                Behr syndrome 1
                Bjornstad syndrome 1
                Bloom syndrome 11
                Boucher-Neuhauser syndrome 1
                Bowen-Conradi syndrome 1
                Brown-Vialetto-Van Laere syndrome + 29
                CD3epsilon deficiency 0
                CD3gamma deficiency 0
                CEDNIK syndrome 1
                COACH syndrome 3
                CODAS syndrome 1
                Canavan disease 15
                Charcot-Marie-Tooth disease axonal type 2H 0
                Charcot-Marie-Tooth disease axonal type 2K 6
                Charcot-Marie-Tooth disease axonal type 2P 1
                Charcot-Marie-Tooth disease axonal type 2S 1
                Charcot-Marie-Tooth disease axonal type 2T 2
                Charcot-Marie-Tooth disease axonal type 2X 1
                Charcot-Marie-Tooth disease recessive intermediate A 1
                Charcot-Marie-Tooth disease recessive intermediate B 1
                Charcot-Marie-Tooth disease recessive intermediate C 1
                Charcot-Marie-Tooth disease recessive intermediate D 1
                Charcot-Marie-Tooth disease type 1F 1
                Charcot-Marie-Tooth disease type 2A2B 1
                Charcot-Marie-Tooth disease type 2B1 1
                Charcot-Marie-Tooth disease type 2B2 2
                Charcot-Marie-Tooth disease type 2EE 1
                Charcot-Marie-Tooth disease type 2R 1
                Charcot-Marie-Tooth disease type 3 5
                Charcot-Marie-Tooth disease type 4A 4
                Charcot-Marie-Tooth disease type 4B1 1
                Charcot-Marie-Tooth disease type 4B2 1
                Charcot-Marie-Tooth disease type 4B3 1
                Charcot-Marie-Tooth disease type 4C 1
                Charcot-Marie-Tooth disease type 4D 1
                Charcot-Marie-Tooth disease type 4E 3
                Charcot-Marie-Tooth disease type 4F 1
                Charcot-Marie-Tooth disease type 4G 1
                Charcot-Marie-Tooth disease type 4H 1
                Charcot-Marie-Tooth disease type 4J 1
                Charcot-Marie-Tooth disease type 4K 1
                Chediak-Higashi syndrome + 1
                Cockayne syndrome + 12
                Cohen syndrome 2
                D-2-hydroxyglutaric aciduria 1 2
                D-glyceric aciduria 1
                DNA ligase IV deficiency 1
                DOORS syndrome 1
                Donnai-Barrow syndrome 2
                Donohue syndrome 1
                Dubowitz syndrome 0
                Dyggve-Melchior-Clausen disease + 2
                EAST syndrome 1
                Ehlers-Danlos syndrome progeroid type + 18
                Eiken syndrome 1
                Ellis-Van Creveld syndrome + 13
                Fanconi anemia complementation group A + 14
                Fanconi anemia complementation group C 2
                Fanconi anemia complementation group D1 1
                Fanconi anemia complementation group D2 2
                Fanconi anemia complementation group E 1
                Fanconi anemia complementation group I 2
                Fanconi anemia complementation group L 2
                Fanconi anemia complementation group O 1
                Fanconi anemia complementation group P 1
                Fanconi anemia complementation group Q 1
                Fanconi anemia complementation group T 1
                Fanconi anemia complementation group U 1
                Fanconi anemia complementation group V 1
                Fazio-Londe disease 1
                Frank-Ter Haar syndrome 1
                Fraser syndrome + 5
                Fuhrmann syndrome 1
                GRACILE syndrome 1
                Galloway-Mowat syndrome + 9
                Gitelman syndrome 4
                Goldberg-Shprintzen syndrome 54
                Gordon Holmes syndrome 1
                Greenberg dysplasia 1
                Griscelli syndrome + 3
                Heimler syndrome 1 3
                Heimler syndrome 2 1
                Hypomyelinating Leukodystrophy 18 1
                JMP syndrome 3
                Jackson-Weiss syndrome 2
                Jalili syndrome 1
                Johanson-Blizzard syndrome 1
                Kahrizi syndrome 1
                Kaufman oculocerebrofacial syndrome 1
                Klippel-Feil syndrome 2 2
                Klippel-Feil syndrome 4 1
                Kohlschutter-Tonz syndrome 21
                Kufor-Rakeb syndrome 1
                Lafora disease 2
                Laron syndrome + 3
                Larsen-like syndrome B3GAT3 type 4
                Laurence-Moon syndrome 1
                Leber congenital amaurosis 1 9
                Leber congenital amaurosis 12 1
                Leber congenital amaurosis 13 2
                Leber congenital amaurosis 14 1
                Leber congenital amaurosis 15 1
                Leber congenital amaurosis 16 2
                Leber congenital amaurosis 17 1
                Leber congenital amaurosis 2 2
                Leber congenital amaurosis 4 1
                Leber congenital amaurosis 5 1
                Leber congenital amaurosis 6 2
                Leber congenital amaurosis 8 1
                Leber congenital amaurosis 9 1
                Leukoencephalomyelopathy 0
                Martsolf syndrome 2
                McKusick-Kaufman syndrome 1
                Meier-Gorlin syndrome 1 1
                Meier-Gorlin syndrome 2 1
                Meier-Gorlin syndrome 3 1
                Meier-Gorlin syndrome 4 1
                Meier-Gorlin syndrome 5 1
                Meier-Gorlin syndrome 7 1
                Meier-Gorlin syndrome 8 1
                Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
                Miyoshi muscular dystrophy 1 1
                Miyoshi muscular dystrophy 3 1
                NGLY1-deficiency 1
                Native American myopathy 1
                Nezelof syndrome 0
                Nijmegen breakage syndrome + 3
                Noonan syndrome 2 1
                Norman-Roberts syndrome 1
                Oguchi disease-1 1
                Oguchi disease-2 1
                Oliver-McFarlane syndrome 1
                PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
                PHARC syndrome 1
                Papillon-Lefevre disease + 1
                Parkinson's disease 14 1
                Parkinson's disease 15 1
                Parkinson's disease 19A 1
                Parkinson's disease 2 3
                Parkinson's disease 20 2
                Parkinson's disease 23 1
                Parkinson's disease 6 6
                Parkinson's disease 7 1
                Pendred syndrome 3
                Perrault syndrome + 7
                Pierson syndrome 2
                Pitt-Hopkins-like syndrome 2 1
                Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
                Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 8
                Riddle syndrome 1
                Ritscher-Schinzel syndrome 1 3
                Roberts syndrome 1
                Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                Ruijs-Aalfs syndrome 1
                SC phocomelia syndrome 1
                SOST-related sclerosing bone dysplasia 1
                SPOAN syndrome 1
                Schimke immuno-osseous dysplasia 1
                Schwartz-Jampel syndrome 1 2
                Seckel syndrome + 11
                Sengers syndrome 3
                Senior-Loken syndrome + 14
                Sensenbrenner syndrome + 8
                Silverman-Handmaker type dyssegmental dysplasia 2
                Sjogren-Larsson syndrome + 1
                Sotos syndrome + 6
                T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                Temtamy syndrome 41
                Troyer syndrome 2
                UV-sensitive syndrome + 3
                Ullrich congenital muscular dystrophy + 4
                Usher syndrome + 46
                Van Maldergem syndrome + 2
                Van den Ende-Gupta syndrome 1
                Vici syndrome 1
                Walker-Warburg syndrome + 33
                Warburg micro syndrome + 5
                Warsaw breakage syndrome 1
                Werner syndrome + 4
                Wolcott-Rallison syndrome 1
                Wolfram syndrome 1 1
                Wolfram syndrome 2 2
                XFE progeroid syndrome 2
                Yunis-Varon syndrome 2
                abetalipoproteinemia + 2
                aceruloplasminemia 3
                achalasia microcephaly syndrome 0
                acheiropody 1
                achondrogenesis type IA 1
                achondrogenesis type IB 1
                achromatopsia 2 1
                achromatopsia 3 1
                achromatopsia 7 1
                acrocapitofemoral dysplasia 1
                acromesomelic dysplasia, Grebe type 1
                acromesomelic dysplasia, Hunter-Thompson type 2
                acromesomelic dysplasia, Maroteaux type 2
                acrorenal syndrome + 0
                adult spinal muscular atrophy 1
                agammaglobulinemia 4 2
                agenesis of the corpus callosum with peripheral neuropathy 3
                alopecia universalis + 2
                alopecia-mental retardation syndrome 1 1
                alopecia-mental retardation syndrome 2 0
                alpha-2-plasmin inhibitor deficiency 1
                amelogenesis imperfecta hypomaturation type 2A2 1
                amelogenesis imperfecta hypomaturation type 2A3 1
                amelogenesis imperfecta hypomaturation type 2A4 1
                amelogenesis imperfecta hypomaturation type 2A5 1
                amelogenesis imperfecta type 1C 3
                amelogenesis imperfecta type 1F 1
                amelogenesis imperfecta type 1G 2
                amelogenesis imperfecta type 1H 1
                amelogenesis imperfecta type 2A1 1
                amelogenesis imperfecta type 3C 1
                anterior segment dysgenesis 2 + 1
                anterior segment dysgenesis 7 1
                anterior segment dysgenesis 8 1
                arrhythmogenic right ventricular dysplasia 11 1
                asphyxiating thoracic dystrophy + 42
                atransferrinemia 2
                atrial standstill 2 1
                atrichia with papular lesions 2
                autoimmune lymphoproliferative syndrome type 2B 1
                autoimmune lymphoproliferative syndrome type 3 1
                autosomal recessive Alport syndrome 4
                autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
                autosomal recessive Robinow syndrome 2
                autosomal recessive Whistling face syndrome 0
                autosomal recessive centronuclear myopathy + 2
                autosomal recessive cerebellar ataxia + 68
                autosomal recessive chronic granulomatous disease cytochrome b-negative 2
                autosomal recessive chronic granulomatous disease cytochrome b-positive type I 1
                autosomal recessive chronic granulomatous disease cytochrome b-positive type II 1
                autosomal recessive chronic granulomatous disease cytochrome b-positive type III 2
                autosomal recessive congenital ichthyosis + 29
                autosomal recessive congenital nystagmus 0
                autosomal recessive distal hereditary motor neuronopathy + 56
                autosomal recessive hyaline body myopathy 1
                autosomal recessive hypophosphatemic rickets + 5
                autosomal recessive isolated ectopia lentis 2 1
                autosomal recessive limb-girdle muscular dystrophy + 106
                autosomal recessive non-syndromic intellectual disability + 58
                autosomal recessive nonsyndromic deafness + 96
                autosomal recessive osteopetrosis 1 2
                autosomal recessive osteopetrosis 2 1
                autosomal recessive osteopetrosis 3 1
                autosomal recessive osteopetrosis 4 1
                autosomal recessive osteopetrosis 5 1
                autosomal recessive osteopetrosis 6 1
                autosomal recessive osteopetrosis 7 1
                autosomal recessive osteopetrosis 8 1
                autosomal recessive pericentral pigmentary retinopathy 0
                autosomal recessive polycystic kidney disease + 40
                autosomal recessive pseudohypoaldosteronism type 1 5
                autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
                autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
                autosomal recessive type IV Ehlers-Danlos syndrome 0
                benign recurrent intrahepatic cholestasis 1 1
                benign recurrent intrahepatic cholestasis 2 1
                beta-ketothiolase deficiency 2
                brachyolmia-amelogenesis imperfecta syndrome 1
                branched-chain keto acid dehydrogenase kinase deficiency 38
                camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
                carbamoyl phosphate synthetase I deficiency disease 1
                carboxypeptidase N deficiency 1
                carnitine-acylcarnitine translocase deficiency 1
                cartilage-hair hypoplasia 1
                cataract 48 1
                choreaacanthocytosis 1
                classic galactosemia 1
                cleft lip-palate-ectodermal dysplasia syndrome 1
                cocoon syndrome 1
                cold-induced sweating syndrome + 3
                combined D-2- and L-2-hydroxyglutaric aciduria 1
                combined malonic and methylmalonic acidemia 1
                combined oxidative phosphorylation deficiency 1 5
                combined oxidative phosphorylation deficiency 10 1
                combined oxidative phosphorylation deficiency 11 1
                combined oxidative phosphorylation deficiency 12 1
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 2
                combined oxidative phosphorylation deficiency 15 1
                combined oxidative phosphorylation deficiency 16 1
                combined oxidative phosphorylation deficiency 17 1
                combined oxidative phosphorylation deficiency 18 1
                combined oxidative phosphorylation deficiency 19 1
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 20 1
                combined oxidative phosphorylation deficiency 21 1
                combined oxidative phosphorylation deficiency 22 1
                combined oxidative phosphorylation deficiency 23 1
                combined oxidative phosphorylation deficiency 24 1
                combined oxidative phosphorylation deficiency 25 1
                combined oxidative phosphorylation deficiency 26 1
                combined oxidative phosphorylation deficiency 27 1
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 1
                combined oxidative phosphorylation deficiency 30 1
                combined oxidative phosphorylation deficiency 31 1
                combined oxidative phosphorylation deficiency 32 1
                combined oxidative phosphorylation deficiency 33 1
                combined oxidative phosphorylation deficiency 34 1
                combined oxidative phosphorylation deficiency 35 1
                combined oxidative phosphorylation deficiency 36 1
                combined oxidative phosphorylation deficiency 37 1
                combined oxidative phosphorylation deficiency 38 1
                combined oxidative phosphorylation deficiency 39 1
                combined oxidative phosphorylation deficiency 4 1
                combined oxidative phosphorylation deficiency 5 2
                combined oxidative phosphorylation deficiency 7 1
                combined oxidative phosphorylation deficiency 8 2
                combined oxidative phosphorylation deficiency 9 1
                congenital adrenal insufficiency 1
                congenital amegakaryocytic thrombocytopenia 1
                congenital diarrhea 5 with tufting enteropathy 1
                congenital diarrhea 7 with exudative enteropathy 1
                congenital disorder of glycosylation Ia 7
                congenital disorder of glycosylation Iaa 1
                congenital disorder of glycosylation Ib 1
                congenital disorder of glycosylation Ic 1
                congenital disorder of glycosylation Id 1
                congenital disorder of glycosylation Ie 1
                congenital disorder of glycosylation If 1
                congenital disorder of glycosylation Ig 1
                congenital disorder of glycosylation Ih 1
                congenital disorder of glycosylation Ii 3
                congenital disorder of glycosylation Ij 9
                congenital disorder of glycosylation Ik 2
                congenital disorder of glycosylation Il 2
                congenital disorder of glycosylation Im 1
                congenital disorder of glycosylation In 1
                congenital disorder of glycosylation Ip 2
                congenital disorder of glycosylation Iq 1
                congenital disorder of glycosylation Ir 1
                congenital disorder of glycosylation It 1
                congenital disorder of glycosylation Iu 23
                congenital disorder of glycosylation Iw 1
                congenital disorder of glycosylation Ix 1
                congenital disorder of glycosylation type IIa 2
                congenital disorder of glycosylation type IIb 1
                congenital disorder of glycosylation type IIc 5
                congenital disorder of glycosylation type IId 1
                congenital disorder of glycosylation type IIe 1
                congenital disorder of glycosylation type IIf 1
                congenital disorder of glycosylation type IIg 2
                congenital disorder of glycosylation type IIh 2
                congenital disorder of glycosylation type IIi 2
                congenital disorder of glycosylation type IIj 1
                congenital disorder of glycosylation type IIk 1
                congenital disorder of glycosylation type IIl 1
                congenital disorder of glycosylation type IIn 1
                congenital disorder of glycosylation type IIo 1
                congenital disorder of glycosylation type IIp 1
                congenital disorder of glycosylation type IIq 1
                congenital dyserythropoietic anemia type II 1
                congenital dyserythropoietic anemia type Ia 1
                congenital dyserythropoietic anemia type Ib 1
                congenital generalized lipodystrophy + 5
                congenital heart defects, hamartomas of tongue, and polysyndactyly 1
                congenital hereditary endothelial dystrophy of cornea 1
                congenital hypotrichosis with juvenile macular dystrophy 1
                congenital lactase deficiency 1
                congenital leptin deficiency 1
                congenital malabsorptive diarrhea 4 1
                congenital merosin-deficient muscular dystrophy 1A + 3
                congenital muscular dystrophy 1B 0
                congenital muscular dystrophy due to integrin alpha-7 deficiency 2
                congenital muscular dystrophy merosin-positive 0
                congenital muscular dystrophy with cataracts and intellectual disability 1
                congenital myasthenic syndrome 10 1
                congenital myasthenic syndrome 11 1
                congenital myasthenic syndrome 12 1
                congenital myasthenic syndrome 13 9
                congenital myasthenic syndrome 14 1
                congenital myasthenic syndrome 15 1
                congenital myasthenic syndrome 16 1
                congenital myasthenic syndrome 17 1
                congenital myasthenic syndrome 19 1
                congenital myasthenic syndrome 1B 3
                congenital myasthenic syndrome 20 1
                congenital myasthenic syndrome 21 2
                congenital myasthenic syndrome 22 2
                congenital myasthenic syndrome 2C 1
                congenital myasthenic syndrome 3B 1
                congenital myasthenic syndrome 3C 1
                congenital myasthenic syndrome 4A 6
                congenital myasthenic syndrome 4B 2
                congenital myasthenic syndrome 4C 7
                congenital myasthenic syndrome 5 1
                congenital myasthenic syndrome 6 2
                congenital myasthenic syndrome 8 42
                congenital myasthenic syndrome 9 1
                congenital nongoitrous hypothyroidism 1 2
                congenital nongoitrous hypothyroidism 4 1
                congenital nongoitrous hypothyroidism 7 1
                congenital secretory chloride diarrhea 1 1
                congenital secretory sodium diarrhea 3 1
                congenital secretory sodium diarrhea 8 1
                congenital stationary night blindness 1B 2
                congenital stationary night blindness 1C 3
                congenital stationary night blindness 1D 1
                congenital stationary night blindness 1E 2
                congenital stationary night blindness 1F 1
                congenital stationary night blindness 1G 1
                congenital stationary night blindness 1H 2
                congenital sucrase-isomaltase deficiency 1
                corneal dystrophy-perceptive deafness syndrome 1
                cortical dysplasia-focal epilepsy syndrome 4
                corticosterone methyloxidase deficiency 1 1
                cortisone reductase deficiency 1 1
                craniolenticulosutural dysplasia 1
                cystathioninuria 1
                cystic fibrosis + 97
                cystinosis + 4
                diastrophic dysplasia + 1
                dihydropyrimidinase deficiency 1
                dilated cardiomyopathy 1X 1
                dilated cardiomyopathy 2A 1
                dilated cardiomyopathy 2B 1
                distal arthrogryposis type 5D 1
                dystonia 16 5
                dystonia 27 4
                dystonia 5 2
                early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
                ectodermal dysplasia 10B 4
                ectodermal dysplasia 11B 1
                ectodermal dysplasia 13 1
                ectodermal dysplasia 14 1
                ectodermal dysplasia 15 1
                ectodermal dysplasia 4 2
                ectodermal dysplasia 5 0
                ectodermal dysplasia 6 0
                ectodermal dysplasia 7 0
                ectodermal dysplasia 8 0
                ectodermal dysplasia 9 1
                ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                ectopia lentis with ectopia of pupil 1
                endocrine-cerebro-osteodysplasia syndrome 1
                enhanced S-cone syndrome 3
                enterokinase deficiency 1
                epidermodysplasia verruciformis + 5
                epidermolysis bullosa simplex with muscular dystrophy 28
                erythrokeratodermia variabilis et progressiva 1 2
                erythrokeratodermia variabilis et progressiva 4 1
                erythrokeratodermia variabilis et progressiva 5 1
                essential fructosuria 2
                factor XII deficiency 2
                familial adenomatous polyposis 2 1
                familial adenomatous polyposis 3 1
                familial adenomatous polyposis 4 2
                familial adult myoclonic epilepsy 5 1
                familial apolipoprotein C-II deficiency 1
                familial benign fleck retina 1
                familial erythrocytosis 2 5
                familial hemophagocytic lymphohistiocytosis 1 0
                familial hemophagocytic lymphohistiocytosis 2 2
                familial hemophagocytic lymphohistiocytosis 3 1
                familial hemophagocytic lymphohistiocytosis 4 1
                familial hepatic adenoma 1
                familial hypertryptophanemia 1
                familial isolated trichomegaly 1
                familial lipase maturation factor 1 deficiency 1
                familial lipoprotein lipase deficiency + 3
                familial partial lipodystrophy type 5 1
                familial partial lipodystrophy type 6 2
                familial temporal lobe epilepsy 5 1
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 3
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
                fatal infantile hypertonic myofibrillar myopathy 1
                fetal akinesia deformation sequence syndrome 1 42
                fetal akinesia deformation sequence syndrome 2 1
                fetal akinesia deformation sequence syndrome 3 1
                fetal akinesia deformation sequence syndrome 4 1
                fibular hypoplasia and complex brachydactyly 1
                focal segmental glomerulosclerosis 6 1
                focal segmental glomerulosclerosis 9 1
                fumarase deficiency 7
                galactose epimerase deficiency 2
                gamma-glutamyl transpeptidase deficiency 1
                gangliosidosis + 9
                geleophysic dysplasia 1 1
                geroderma osteodysplasticum 1
                giant axonal neuropathy 1 9
                glucocorticoid deficiency 1 3
                glutamate formiminotransferase deficiency 2
                glutamate-cysteine ligase deficiency 1
                glutaric acidemia I 3
                hereditary arterial and articular multiple calcification syndrome + 11
                hereditary folate malabsorption 2
                hereditary sensory and autonomic neuropathy type 2A 5
                hereditary sensory and autonomic neuropathy type 2B 1
                hereditary sensory and autonomic neuropathy type 5 2
                hereditary sensory and autonomic neuropathy type 6 1
                hereditary sensory and autonomic neuropathy type 8 1
                hereditary sensory neuropathy type 2C 1
                hereditary sensory neuropathy type 4 2
                hereditary spastic paraplegia 11 7
                hereditary spastic paraplegia 14 0
                hereditary spastic paraplegia 15 1
                hereditary spastic paraplegia 18 1
                hereditary spastic paraplegia 23 1
                hereditary spastic paraplegia 24 0
                hereditary spastic paraplegia 25 0
                hereditary spastic paraplegia 26 1
                hereditary spastic paraplegia 27 0
                hereditary spastic paraplegia 28 1
                hereditary spastic paraplegia 30 1
                hereditary spastic paraplegia 32 0
                hereditary spastic paraplegia 35 1
                hereditary spastic paraplegia 39 2
                hereditary spastic paraplegia 43 1
                hereditary spastic paraplegia 44 1
                hereditary spastic paraplegia 45 2
                hereditary spastic paraplegia 46 1
                hereditary spastic paraplegia 47 2
                hereditary spastic paraplegia 48 1
                hereditary spastic paraplegia 49 2
                hereditary spastic paraplegia 50 2
                hereditary spastic paraplegia 51 2
                hereditary spastic paraplegia 52 1
                hereditary spastic paraplegia 53 1
                hereditary spastic paraplegia 54 1
                hereditary spastic paraplegia 55 1
                hereditary spastic paraplegia 56 1
                hereditary spastic paraplegia 57 1
                hereditary spastic paraplegia 5A 6
                hereditary spastic paraplegia 61 1
                hereditary spastic paraplegia 62 1
                hereditary spastic paraplegia 63 1
                hereditary spastic paraplegia 64 1
                hereditary spastic paraplegia 7 1
                hereditary spastic paraplegia 72 1
                hereditary spastic paraplegia 74 1
                hereditary spastic paraplegia 75 1
                hereditary spastic paraplegia 76 1
                hereditary spastic paraplegia 77 1
                hereditary spastic paraplegia 9A 1
                hereditary spastic paraplegia 9B 1
                hereditary spherocytosis type 1 4
                hereditary spherocytosis type 3 1
                hereditary spherocytosis type 5 1
                high molecular weight kininogen deficiency 1
                high myopia-sensorineural deafness syndrome 1
                histiocytosis-lymphadenopathy plus syndrome 1
                hyaline fibromatosis syndrome 1
                hydrolethalus syndrome + 3
                hyper IgE recurrent infection syndrome 2 1
                hyper IgE recurrent infection syndrome 3 1
                hyper IgE recurrent infection syndrome 4 1
                hyperekplexia 1 2
                hyperekplexia 2 1
                hyperekplexia 3 1
                hyperekplexia 4 1
                hyperphosphatemic familial tumoral calcinosis + 116
                hyperprolinemia type 1 2
                hyperprolinemia type 2 1
                hypertelorism, microtia, facial clefting syndrome 0
                hypogonadotropic hypogonadism 10 with or without anosmia 1
                hypogonadotropic hypogonadism 11 with or without anosmia 1
                hypogonadotropic hypogonadism 12 with or without anosmia 4
                hypogonadotropic hypogonadism 13 with or without anosmia 1
                hypogonadotropic hypogonadism 18 with or without anosmia 1
                hypogonadotropic hypogonadism 22 with or without anosmia 1
                hypogonadotropic hypogonadism 23 with or without anosmia 1
                hypogonadotropic hypogonadism 24 without anosmia 1
                hypogonadotropic hypogonadism 7 with or without anosmia 24
                hypogonadotropic hypogonadism 8 with or without anosmia 1
                hypomyelinating leukodystrophy 10 1
                hypomyelinating leukodystrophy 11 1
                hypomyelinating leukodystrophy 12 1
                hypomyelinating leukodystrophy 13 1
                hypomyelinating leukodystrophy 14 1
                hypomyelinating leukodystrophy 2 2
                hypomyelinating leukodystrophy 3 1
                hypomyelinating leukodystrophy 4 2
                hypomyelinating leukodystrophy 5 1
                hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1
                hypomyelinating leukodystrophy 9 1
                hypoparathyroidism-retardation-dysmorphism syndrome 2
                hypotrichosis 10 0
                hypotrichosis 6 1
                hypotrichosis 7 1
                hypotrichosis 8 3
                hypotrichosis 9 0
                hypotrichosis-lymphedema-telangiectasia syndrome + 2
                immunodeficiency with hyper IgM type 3 1
                immunodeficiency with hyper IgM type 5 1
                immunodeficiency with hyper-IgM type 2 3
                immunodeficiency-centromeric instability-facial anomalies syndrome + 10
                immunoglobulin alpha deficiency + 8
                infantile cerebellar-retinal degeneration 2
                infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
                inflammatory bowel disease 25 1
                inflammatory bowel disease 28 1
                intellectual developmental disorder with short stature and behavioral abnormalities 1
                intermediate spinal muscular atrophy 1
                isolated hyperchlorhidrosis 1
                isolated microphthalmia 1 1
                isolated microphthalmia 2 1
                isolated microphthalmia 3 1
                isolated microphthalmia 5 2
                isolated microphthalmia 6 4
                isolated microphthalmia 8 1
                isolated sulfite oxidase deficiency 1
                junctional epidermolysis bullosa Herlitz type 4
                junctional epidermolysis bullosa non-Herlitz type + 5
                junctional epidermolysis bullosa with pyloric atresia 4
                karyomegalic interstitial nephritis 2
                late-adult onset retinitis pigmentosa 0
                lethal congenital contracture syndrome + 12
                lethal restrictive dermopathy 4
                leukocyte adhesion deficiency + 3
                lymphoproliferative syndrome 1 1
                lymphoproliferative syndrome 2 1
                megaconial type congenital muscular dystrophy 1
                megalencephalic leukoencephalopathy with subcortical cysts 1 2
                megalencephalic leukoencephalopathy with subcortical cysts 2A 1
                microcephalic osteodysplastic primordial dwarfism type I 1
                microcephalic osteodysplastic primordial dwarfism type II 1
                microcephaly and chorioretinopathy 1 3
                microcephaly and chorioretinopathy 2 1
                microcephaly and chorioretinopathy 3 2
                microphthalmia with limb anomalies 1
                microvillus inclusion disease 2
                mitochondrial DNA depletion syndrome 1 4
                mitochondrial DNA depletion syndrome 11 1
                mitochondrial DNA depletion syndrome 12b 1
                mitochondrial DNA depletion syndrome 13 1
                mitochondrial DNA depletion syndrome 15 1
                mitochondrial DNA depletion syndrome 2 1
                mitochondrial DNA depletion syndrome 3 3
                mitochondrial DNA depletion syndrome 4A + 5
                mitochondrial DNA depletion syndrome 4B 2
                mitochondrial DNA depletion syndrome 5 1
                mitochondrial DNA depletion syndrome 6 1
                mitochondrial DNA depletion syndrome 8A 5
                mitochondrial DNA depletion syndrome 8b 2
                mitochondrial DNA depletion syndrome 9 1
                mitochondrial pyruvate carrier deficiency 1
                mitochondrial trifunctional protein deficiency 3
                mosaic variegated aneuploidy syndrome 1 3
                mosaic variegated aneuploidy syndrome 2 1
                mucopolysaccharidosis IVA 2
                mucopolysaccharidosis Ih 2
                mucopolysaccharidosis Ih/s 2
                mucopolysaccharidosis type IIIA 3
                mucopolysaccharidosis type IIIB 1
                mucopolysaccharidosis type IIIC 4
                mucopolysaccharidosis type IIID 2
                mucopolysaccharidosis type IVB 2
                mucosulfatidosis 2
                mulibrey nanism 4
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
                multiple congenital anomalies-hypotonia-seizures syndrome 1 3
                multiple congenital anomalies-hypotonia-seizures syndrome 3 1
                multiple epiphyseal dysplasia 4 1
                multiple epiphyseal dysplasia 7 1
                multiple intestinal atresia 2
                multiple mitochondrial dysfunctions syndrome 1 1
                multiple mitochondrial dysfunctions syndrome 2 1
                multiple mitochondrial dysfunctions syndrome 3 1
                multiple mitochondrial dysfunctions syndrome 4 1
                multiple mitochondrial dysfunctions syndrome 5 1
                multiple mitochondrial dysfunctions syndrome 6 1
                muscular dystrophy-dystroglycanopathy + 36
                muscular dystrophy-dystroglycanopathy type B5 1
                muscular dystrophy-dystroglycanopathy type B6 1
                myofibrillar myopathy 7 3
                myofibrillar myopathy 8 1
                myopathy with extrapyramidal signs 1
                nemaline myopathy 1 1
                nemaline myopathy 10 1
                nemaline myopathy 11 1
                nemaline myopathy 2 4
                nemaline myopathy 3 1
                nemaline myopathy 5 2
                nemaline myopathy 7 1
                nemaline myopathy 8 1
                nemaline myopathy 9 1
                neonatal diabetes mellitus with congenital hypothyroidism 1
                neonatal-onset type II citrullinemia 1
                nephronophthisis + 41
                nephrotic syndrome type 1 9
                nephrotic syndrome type 10 1
                nephrotic syndrome type 11 1
                nephrotic syndrome type 12 1
                nephrotic syndrome type 13 1
                nephrotic syndrome type 14 1
                nephrotic syndrome type 15 1
                nephrotic syndrome type 16 1
                nephrotic syndrome type 17 2
                nephrotic syndrome type 18 1
                nephrotic syndrome type 19 1
                nephrotic syndrome type 2 17
                nephrotic syndrome type 3 2
                nephrotic syndrome type 5 1
                nephrotic syndrome type 6 1
                nephrotic syndrome type 7 1
                nephrotic syndrome type 8 1
                nephrotic syndrome type 9 1
                neurodegeneration with brain iron accumulation 2A 1
                neurodegeneration with brain iron accumulation 2B 1
                neurodegeneration with brain iron accumulation 4 1
                neurodegeneration with brain iron accumulation 6 1
                neurodevelopmental disorder with midbrain and hindbrain malformations 1
                neurogenic arthrogryposis multiplex congenita + 3
                nonphotosensitive trichothiodystrophy + 4
                oculocutaneous albinism + 35
                optic atrophy 11 1
                optic atrophy 6 0
                optic atrophy 7 1
                optic atrophy 9 3
                optic disc anomalies with retinal and/or macular dystrophy 1
                orofacial cleft 14 0
                orofacial cleft 7 + 1
                orofaciodigital syndrome V 1
                osteogenesis imperfecta type 10 1
                osteogenesis imperfecta type 11 1
                osteogenesis imperfecta type 12 2
                osteogenesis imperfecta type 13 1
                osteogenesis imperfecta type 15 2
                osteogenesis imperfecta type 17 1
                osteogenesis imperfecta type 18 1
                osteogenesis imperfecta type 20 1
                osteogenesis imperfecta type 7 3
                osteogenesis imperfecta type 8 1
                osteogenesis imperfecta type 9 2
                osteoporosis-pseudoglioma syndrome 1
                otulipenia 1
                ovarian dysgenesis 1 1
                ovarian dysgenesis 3 3
                ovarian dysgenesis 4 1
                ovarian dysgenesis 5 1
                ovarian dysgenesis 6 1
                ovarian dysgenesis 7 1
                pantothenate kinase-associated neurodegeneration + 4
                pentosuria 1
                permanent neonatal diabetes mellitus + 7
                peroxisome biogenesis disorder 2B 1
                plasminogen deficiency type I 1
                poikiloderma with neutropenia 1
                postaxial acrofacial dysostosis 1
                primary autosomal recessive microcephaly + 27
                primary ciliary dyskinesia 38 1
                primary ciliary dyskinesia 39 1
                primary ciliary dyskinesia 40 1
                primary ciliary dyskinesia 41 1
                primary ciliary dyskinesia 42 1
                primary ciliary dyskinesia 44 1
                primary ciliary dyskinesia 45 1
                progressive familial intrahepatic cholestasis 1 4
                progressive familial intrahepatic cholestasis 2 2
                progressive familial intrahepatic cholestasis 3 1
                progressive familial intrahepatic cholestasis 4 2
                progressive familial intrahepatic cholestasis 5 1
                progressive myoclonus epilepsy 10 1
                progressive myoclonus epilepsy 1A 1
                progressive myoclonus epilepsy 1B 2
                progressive myoclonus epilepsy 3 2
                progressive myoclonus epilepsy 4 1
                progressive myoclonus epilepsy 6 1
                progressive myoclonus epilepsy 8 2
                progressive myoclonus epilepsy 9 1
                progressive pseudorheumatoid arthropathy of childhood 1
                prolidase deficiency 1
                proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1
                proprotein convertase 1/3 deficiency 1
                prothrombin deficiency + 2
                prune belly syndrome + 3
                pseudo-TORCH syndrome 1 1
                pseudoxanthoma elasticum + 21
                purine nucleoside phosphorylase deficiency 1
                pycnodysostosis 2
                pyruvate kinase deficiency of red cells 2
                rapadilino syndrome 1
                recessive dystrophic epidermolysis bullosa 3
                reticular dysgenesis 1
                retinitis pigmentosa 1 1
                retinitis pigmentosa 12 3
                retinitis pigmentosa 14 1
                retinitis pigmentosa 19 1
                retinitis pigmentosa 20 1
                retinitis pigmentosa 25 1
                retinitis pigmentosa 26 2
                retinitis pigmentosa 28 1
                retinitis pigmentosa 29 0
                retinitis pigmentosa 35 1
                retinitis pigmentosa 37 1
                retinitis pigmentosa 38 1
                retinitis pigmentosa 4 1
                retinitis pigmentosa 40 1
                retinitis pigmentosa 41 1
                retinitis pigmentosa 45 1
                retinitis pigmentosa 50 1
                retinitis pigmentosa 56 1
                retinitis pigmentosa 57 1
                retinitis pigmentosa 59 1
                retinitis pigmentosa 62 1
                retinitis pigmentosa 68 1
                retinitis pigmentosa 69 1
                retinitis pigmentosa 7 2
                retinitis pigmentosa 71 2
                retinitis pigmentosa 72 1
                retinitis pigmentosa 73 1
                retinitis pigmentosa 74 1
                retinitis pigmentosa 75 1
                retinitis pigmentosa 77 1
                retinitis pigmentosa with or without situs inversus 1
                rhizomelic chondrodysplasia punctata + 4
                right atrial isomerism 3
                rigid spine muscular dystrophy 1 4
                salt and pepper syndrome 2
                sclerosteosis 1 1
                sclerosteosis 2 1
                sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
                sepiapterin reductase deficiency 1
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
                sickle cell anemia + 43
                sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                sitosterolemia + 3
                spermatogenic failure 13 1
                spermatogenic failure 14 1
                spermatogenic failure 15 1
                spermatogenic failure 16 1
                spermatogenic failure 17 2
                spermatogenic failure 18 2
                spermatogenic failure 19 1
                spermatogenic failure 20 1
                spermatogenic failure 21 1
                spermatogenic failure 22 1
                spermatogenic failure 23 1
                spermatogenic failure 5 1
                spermatogenic failure 6 1
                spermatogenic failure 7 3
                spermatogenic failure 9 1
                spinal muscular atrophy with progressive myoclonic epilepsy 1
                split hand-foot malformation 1 with sensorineural hearing loss 1
                split hand-foot malformation 6 1
                spondylocarpotarsal synostosis syndrome 2
                spondyloepimetaphyseal dysplasia, Genevieve-type 2
                spondyloepimetaphyseal dysplasia, Pakistani type 1
                spondyloepimetaphyseal dysplasia, Sponastrime type 1
                stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                syndromic microphthalmia 9 3
                temtamy preaxial brachydactyly syndrome 1
                thalassemia + 66
                thiamine-responsive megaloblastic anemia syndrome 1
                torsion dystonia 17 0
                torsion dystonia 2 1
                transient bullous dermolysis of the newborn 1
                trichohepatoenteric syndrome + 4
                trimethylaminuria 1
                triple-A syndrome 2
                urofacial syndrome + 2
                ventriculomegaly - cystic kidney disease 1
                visual impairment and progressive phthisis bulbi 1
                xeroderma pigmentosum + 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.