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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal recessive disease
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Accession:DOID:0050737 term browser browse the term
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
For additional species annotation, visit the Alliance of Genome Resources.


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      disease 17205
        Developmental Disease 10918
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
            genetic disease 8960
              monogenic disease 7128
                autosomal genetic disease 6276
                  autosomal recessive disease 3444
                    17-beta hydroxysteroid dehydrogenase 3 deficiency + 2
                    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 + 18
                    46,XY sex reversal 5 1
                    46,XY sex reversal 7 1
                    46,XY sex reversal 8 2
                    ABCD syndrome 1
                    AGAT deficiency 17
                    AMED syndrome 1
                    ARC syndrome + 2
                    Alkuraya-Kucinskas syndrome 1
                    Alpers-Huttenlocher syndrome + 5
                    Alstrom syndrome 11
                    Antley-Bixler syndrome + 3
                    Athabaskan brainstem dysgenesis syndrome 2
                    Autosomal Recessive Cutis Laxa + 35
                    Autosomal Recessive Dyskeratosis Congenita + 13
                    Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
                    Autosomal Recessive Robinow Syndrome 2 1
                    Autosomal Recessive Woolly Hair + 3
                    BH4-deficient hyperphenylalaninemia A 4
                    BH4-deficient hyperphenylalaninemia B 1
                    Bardet-Biedl syndrome + 53
                    Behr syndrome 1
                    Bernard-Soulier syndrome + 4
                    Bjornstad syndrome 1
                    Bloom syndrome 462
                    Boucher-Neuhauser syndrome 1
                    Bowen-Conradi syndrome 1
                    Brown-Vialetto-Van Laere syndrome 1 2
                    Brown-Vialetto-Van Laere syndrome 2 28
                    CD3epsilon deficiency 0
                    CD3gamma deficiency 0
                    CEDNIK syndrome 1
                    CHIME syndrome 1
                    COACH syndrome + 4
                    CODAS syndrome 2
                    Canavan disease 14
                    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 2
                    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 + 3
                    Cockayne syndrome + 14
                    Cohen syndrome 3
                    Compton-North congenital myopathy 1
                    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 4
                    Ehlers-Danlos syndrome cardiac valvular type 1
                    Ehlers-Danlos syndrome classic-like 1 1
                    Ehlers-Danlos syndrome classic-like 2 1
                    Ehlers-Danlos syndrome dermatosparaxis type 10
                    Ehlers-Danlos syndrome kyphoscoliotic type 1 2
                    Ehlers-Danlos syndrome kyphoscoliotic type 2 1
                    Ehlers-Danlos syndrome musculocontractural type 1 1
                    Ehlers-Danlos syndrome musculocontractural type 2 1
                    Ehlers-Danlos syndrome spondylodysplastic type 1 2
                    Ehlers-Danlos syndrome spondylodysplastic type 2 20
                    Eiken syndrome 1
                    Ellis-Van Creveld syndrome + 42
                    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 6
                    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
                    Fanconi renotubular syndrome 2 1
                    Fanconi renotubular syndrome 5 1
                    Fazio-Londe disease 1
                    Filippi syndrome 1
                    Frank-Ter Haar syndrome 1
                    Fraser syndrome + 20
                    Fuhrmann syndrome 1
                    GAPO syndrome 1
                    GNE myopathy 2
                    GRACILE syndrome 1
                    Galloway-Mowat syndrome + 10
                    Galloway-Mowat syndrome 1 3
                    Galloway-Mowat syndrome 3 1
                    Galloway-Mowat syndrome 4 1
                    Gaucher's disease type III + 1
                    Ghosal hematodiaphyseal syndrome 1
                    Gitelman syndrome 6
                    Goldberg-Shprintzen syndrome 53
                    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 2
                    Kenny-Caffey syndrome type 1 1
                    Klippel-Feil syndrome 2 2
                    Klippel-Feil syndrome 4 1
                    Kohlschutter-Tonz syndrome 21
                    Kufor-Rakeb syndrome 1
                    Lafora disease 2
                    Laron syndrome 2
                    Larsen-like syndrome B3GAT3 type 5
                    Laurence-Moon syndrome 1
                    Leber congenital amaurosis 1 9
                    Leber congenital amaurosis 12 1
                    Leber congenital amaurosis 13 16
                    Leber congenital amaurosis 14 1
                    Leber congenital amaurosis 15 1
                    Leber congenital amaurosis 16 2
                    Leber congenital amaurosis 17 1
                    Leber congenital amaurosis 2 4
                    Leber congenital amaurosis 4 8
                    Leber congenital amaurosis 5 2
                    Leber congenital amaurosis 6 2
                    Leber congenital amaurosis 8 1
                    Leber congenital amaurosis 9 1
                    Leukoencephalomyelopathy 1
                    Leydig cell hypoplasia + 1
                    Mahvash disease 1
                    Martsolf syndrome 2
                    McKusick-Kaufman syndrome 1
                    Meckel syndrome 13 1
                    Meier-Gorlin syndrome 1 2
                    Meier-Gorlin syndrome 2 1
                    Meier-Gorlin syndrome 3 2
                    Meier-Gorlin syndrome 4 1
                    Meier-Gorlin syndrome 5 1
                    Meier-Gorlin syndrome 7 1
                    Meier-Gorlin syndrome 8 1
                    Mental Retardation, Autosomal Recessive 13 1
                    Microvillus Inclusion Disease 2 1
                    Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 3
                    Miyoshi muscular dystrophy 1 2
                    Miyoshi muscular dystrophy 3 1
                    N-acetylglutamate synthase deficiency 1
                    NGLY1-deficiency 3
                    Native American myopathy 3
                    Nezelof syndrome 0
                    Nijmegen breakage syndrome + 3
                    Noonan syndrome 2 1
                    Norman-Roberts syndrome 1
                    Oguchi disease-1 1
                    Oguchi disease-2 2
                    Oliver-McFarlane syndrome 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 5
                    Parkinson's disease 20 34
                    Parkinson's disease 23 1
                    Parkinson's disease 6 6
                    Parkinson's disease 7 1
                    Pendred syndrome 7
                    Perrault syndrome + 7
                    Pierson syndrome 14
                    Pitt-Hopkins-like syndrome 2 11
                    Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
                    Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 8
                    RNASET2-deficient cystic leukoencephalopathy 3
                    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
                    SOST-related sclerosing bone dysplasia 1
                    SPOAN syndrome 1
                    Saldino-Noonan syndrome 1
                    Schimke immuno-osseous dysplasia 1
                    Schinzel type phocomelia 1
                    Schwartz-Jampel syndrome 1 2
                    Seckel syndrome + 14
                    Sengers syndrome 3
                    Senior-Loken syndrome + 13
                    Silverman-Handmaker type dyssegmental dysplasia 1
                    Sjogren-Larsson syndrome + 2
                    Sotos syndrome 3 2
                    T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                    Temtamy syndrome 64
                    Treacher Collins syndrome 2 1
                    Treacher Collins syndrome 3 1
                    Troyer syndrome 2
                    UV-sensitive syndrome + 3
                    Ullrich congenital muscular dystrophy + 4
                    Usher syndrome + 56
                    Van Maldergem syndrome + 2
                    Van den Ende-Gupta syndrome 1
                    Vici syndrome 1
                    Walker-Warburg syndrome + 34
                    Warburg micro syndrome + 4
                    Warsaw breakage syndrome 1
                    Werner syndrome + 4
                    Wolcott-Rallison syndrome 1
                    Wolfram syndrome 1 1
                    Wolfram syndrome 2 2
                    Woodhouse-Sakati syndrome 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
                    adenine phosphoribosyltransferase deficiency 2
                    adult spinal muscular atrophy 1
                    agammaglobulinemia 4 7
                    agenesis of the corpus callosum with peripheral neuropathy 5
                    alopecia universalis + 2
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
                    alopecia-mental retardation syndrome 1 1
                    alopecia-mental retardation syndrome 2 0
                    alopecia-mental retardation syndrome 3 0
                    alopecia-mental retardation syndrome 4 2
                    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 1J 1
                    amelogenesis imperfecta type 2A1 1
                    amelogenesis imperfecta type 2A6 1
                    amelogenesis imperfecta type 3C 1
                    anauxetic dysplasia 1 2
                    anauxetic dysplasia 2 1
                    anauxetic dysplasia 3 1
                    anterior segment dysgenesis 2 + 1
                    anterior segment dysgenesis 7 1
                    anterior segment dysgenesis 8 0
                    antithrombin III deficiency 1
                    arthrogryposis multiplex congenita-1 1
                    arthrogryposis multiplex congenita-3 2
                    arthrogryposis multiplex congenita-4 1
                    arthrogryposis multiplex congenita-5 1
                    asphyxiating thoracic dystrophy 1 9
                    asphyxiating thoracic dystrophy 2 1
                    asphyxiating thoracic dystrophy 3 8
                    asphyxiating thoracic dystrophy 4 1
                    asphyxiating thoracic dystrophy 5 1
                    atransferrinemia 2
                    atrial standstill 2 1
                    atrichia with papular lesions 2
                    autoimmune lymphoproliferative syndrome type 2B 1
                    autoimmune lymphoproliferative syndrome type 3 2
                    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 + 4
                    autosomal recessive cerebellar ataxia + 155
                    autosomal recessive chronic granulomatous disease cytochrome b-negative 13
                    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 bilateral absence of vas deferens 2
                    autosomal recessive congenital ichthyosis + 29
                    autosomal recessive congenital nystagmus 0
                    autosomal recessive craniometaphyseal dysplasia 1
                    autosomal recessive distal hereditary motor neuronopathy + 57
                    autosomal recessive hyaline body myopathy 1
                    autosomal recessive hypophosphatemic rickets + 2
                    autosomal recessive isolated ectopia lentis 2 1
                    autosomal recessive limb-girdle muscular dystrophy + 105
                    autosomal recessive non-syndromic intellectual disability + 66
                    autosomal recessive nonsyndromic deafness + 110
                    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 + 41
                    autosomal recessive pseudohypoaldosteronism type 1 5
                    autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
                    autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
                    autosomal recessive spondyloepiphyseal dysplasia tarda 0
                    autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 0
                    autosomal recessive thrombophilia due to protein C deficiency 1
                    autosomal recessive thrombophilia due to protein S deficiency 3
                    autosomal recessive type IV Ehlers-Danlos syndrome 0
                    axial spondylometaphyseal dysplasia 1
                    benign recurrent intrahepatic cholestasis 1 1
                    benign recurrent intrahepatic cholestasis 2 1
                    beta-ketothiolase deficiency 2
                    bilateral frontoparietal polymicrogyria 2
                    bilateral parasagittal parieto-occipital polymicrogyria 1
                    brachyolmia-amelogenesis imperfecta syndrome 1
                    branched-chain keto acid dehydrogenase kinase deficiency 37
                    brittle cornea syndrome 1 3
                    brittle cornea syndrome 2 1
                    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 11 multiple types + 2
                    cataract 13 with adult i phenotype 1
                    cataract 16 multiple types 2
                    cataract 17 multiple types 2
                    cataract 18 1
                    cataract 19 multiple types 1
                    cataract 22 multiple types 1
                    cataract 33 2
                    cataract 35 0
                    cataract 36 1
                    cataract 38 2
                    cataract 44 1
                    cataract 45 1
                    cataract 46 juvenile-onset 1
                    cataract 48 1
                    cataract 9 multiple types 2
                    central core disease + 8
                    cerebellofaciodental syndrome 1
                    chondrodysplasia with joint dislocations gPAPP type 1
                    choreaacanthocytosis 1
                    classic galactosemia 1
                    cleft lip-palate-ectodermal dysplasia syndrome 1
                    cold-induced sweating syndrome + 3
                    combined D-2- and L-2-hydroxyglutaric aciduria 1
                    combined cellular and humoral immune defects with granulomas 3
                    combined deficiency of vitamin K-dependent clotting factors 1 2
                    combined deficiency of vitamin K-dependent clotting factors 2 1
                    combined malonic and methylmalonic acidemia 1
                    combined oxidative phosphorylation deficiency 1 5
                    combined oxidative phosphorylation deficiency 10 1
                    combined oxidative phosphorylation deficiency 11 2
                    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 2
                    combined oxidative phosphorylation deficiency 30 1
                    combined oxidative phosphorylation deficiency 31 1
                    combined oxidative phosphorylation deficiency 32 2
                    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 40 1
                    combined oxidative phosphorylation deficiency 41 1
                    combined oxidative phosphorylation deficiency 42 1
                    combined oxidative phosphorylation deficiency 43 1
                    combined oxidative phosphorylation deficiency 45 1
                    combined oxidative phosphorylation deficiency 46 1
                    combined oxidative phosphorylation deficiency 47 2
                    combined oxidative phosphorylation deficiency 48 1
                    combined oxidative phosphorylation deficiency 49 1
                    combined oxidative phosphorylation deficiency 5 2
                    combined oxidative phosphorylation deficiency 50 1
                    combined oxidative phosphorylation deficiency 51 1
                    combined oxidative phosphorylation deficiency 7 2
                    combined oxidative phosphorylation deficiency 8 3
                    combined oxidative phosphorylation deficiency 9 1
                    congenital adrenal insufficiency 1
                    congenital afibrinogenemia + 5
                    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 2
                    congenital disorder of glycosylation Ig 30
                    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 2
                    congenital disorder of glycosylation In 1
                    congenital disorder of glycosylation Ip 2
                    congenital disorder of glycosylation Iq 1
                    congenital disorder of glycosylation Ir 2
                    congenital disorder of glycosylation It 1
                    congenital disorder of glycosylation Iu 23
                    congenital disorder of glycosylation Iw 0
                    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 41
                    congenital disorder of glycosylation type IId 1
                    congenital disorder of glycosylation type IIe 1
                    congenital disorder of glycosylation type IIf 2
                    congenital disorder of glycosylation type IIg 2
                    congenital disorder of glycosylation type IIh 2
                    congenital disorder of glycosylation type IIi 3
                    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 2
                    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 + 2
                    congenital muscular dystrophy 1B 0
                    congenital muscular dystrophy due to integrin alpha-7 deficiency 3
                    congenital muscular dystrophy merosin-positive 0
                    congenital muscular dystrophy with cataracts and intellectual disability 1
                    congenital myasthenic syndrome 10 2
                    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 2
                    congenital myasthenic syndrome 6 3
                    congenital myasthenic syndrome 8 41
                    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 2
                    congenital stationary night blindness 1B 1
                    congenital stationary night blindness 1C 2
                    congenital stationary night blindness 1D 2
                    congenital stationary night blindness 1E 1
                    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
                    cranioectodermal dysplasia + 7
                    craniolenticulosutural dysplasia 1
                    cystathioninuria 1
                    cystic fibrosis + 104
                    cystinosis + 6
                    cytochrome P450 oxidoreductase deficiency 2
                    developmental and epileptic encephalopathy 12 2
                    developmental and epileptic encephalopathy 15 1
                    developmental and epileptic encephalopathy 16 1
                    developmental and epileptic encephalopathy 18 1
                    developmental and epileptic encephalopathy 21 41
                    developmental and epileptic encephalopathy 23 2
                    developmental and epileptic encephalopathy 25 23
                    developmental and epileptic encephalopathy 28 3
                    developmental and epileptic encephalopathy 29 1
                    developmental and epileptic encephalopathy 3 1
                    developmental and epileptic encephalopathy 34 1
                    developmental and epileptic encephalopathy 35 1
                    developmental and epileptic encephalopathy 37 6
                    developmental and epileptic encephalopathy 38 1
                    developmental and epileptic encephalopathy 39 1
                    developmental and epileptic encephalopathy 40 1
                    developmental and epileptic encephalopathy 44 2
                    developmental and epileptic encephalopathy 48 1
                    developmental and epileptic encephalopathy 49 1
                    developmental and epileptic encephalopathy 50 1
                    developmental and epileptic encephalopathy 51 2
                    developmental and epileptic encephalopathy 52 1
                    developmental and epileptic encephalopathy 53 1
                    developmental and epileptic encephalopathy 55 1
                    developmental and epileptic encephalopathy 60 1
                    developmental and epileptic encephalopathy 61 1
                    developmental and epileptic encephalopathy 63 1
                    developmental and epileptic encephalopathy 68 1
                    developmental and epileptic encephalopathy 71 1
                    developmental and epileptic encephalopathy 75 1
                    developmental and epileptic encephalopathy 76 1
                    developmental and epileptic encephalopathy 77 1
                    developmental and epileptic encephalopathy 80 3
                    developmental and epileptic encephalopathy 81 1
                    developmental and epileptic encephalopathy 82 1
                    developmental and epileptic encephalopathy 83 1
                    developmental and epileptic encephalopathy 84 1
                    developmental and epileptic encephalopathy 86 1
                    developmental and epileptic encephalopathy 88 1
                    developmental and epileptic encephalopathy 89 1
                    diastrophic dysplasia + 1
                    dicarboxylic aminoaciduria 2
                    dihydropyrimidinase deficiency 1
                    dilated cardiomyopathy 1X 1
                    dilated cardiomyopathy 2A 3
                    dilated cardiomyopathy 2B 1
                    distal arthrogryposis type 5D 1
                    dystonia 16 5
                    dystonia 27 4
                    dystonia 5 3
                    early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
                    early-onset vitamin B6-dependent epilepsy 1
                    ectodermal dysplasia 10B 4
                    ectodermal dysplasia 11B 2
                    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 3
                    enhanced S-cone syndrome 3
                    enterokinase deficiency 1
                    epidermodysplasia verruciformis + 5
                    epidermolysis bullosa simplex with muscular dystrophy 28
                    erythrokeratodermia variabilis et progressiva 1 3
                    erythrokeratodermia variabilis et progressiva 4 1
                    erythrokeratodermia variabilis et progressiva 5 1
                    essential fructosuria 2
                    factor V deficiency + 5
                    factor VII deficiency 2
                    factor X deficiency 3
                    factor XII deficiency 2
                    factor XIII deficiency + 3
                    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 7
                    familial hemophagocytic lymphohistiocytosis 3 1
                    familial hemophagocytic lymphohistiocytosis 4 8
                    familial hepatic adenoma 1
                    familial hypertryptophanemia 1
                    familial isolated trichomegaly 1
                    familial lipase maturation factor 1 deficiency 1
                    familial lipoprotein lipase deficiency + 4
                    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 5
                    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
                    fetal encasement syndrome 1
                    fibrochondrogenesis 1 2
                    fibrochondrogenesis 2 1
                    fibular hypoplasia and complex brachydactyly 1
                    focal segmental glomerulosclerosis 6 1
                    focal segmental glomerulosclerosis 9 1
                    fumarase deficiency 8
                    galactose epimerase deficiency 2
                    gamma-glutamyl transpeptidase deficiency 1
                    gangliosidosis + 9
                    gelatinous drop-like corneal dystrophy 2
                    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
                    glutaric acidemia type 3 1
                    glycogen storage disease XV 1
                    gray platelet syndrome + 3
                    growth hormone insensitivity syndrome with immune dysregulation 1 1
                    hemolytic anemia due to glutathione synthetase deficiency 1
                    hepatic venoocclusive disease with immunodeficiency 2
                    hereditary angioedema type I 5
                    hereditary arterial and articular multiple calcification syndrome + 10
                    hereditary folate malabsorption 2
                    hereditary sensory and autonomic neuropathy type 2A 11
                    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 4
                    hereditary spastic paraplegia 11 8
                    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 3
                    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 2
                    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 2
                    hereditary spherocytosis type 5 1
                    high molecular weight kininogen deficiency 1
                    high myopia-sensorineural deafness syndrome 1
                    histiocytosis-lymphadenopathy plus syndrome 1
                    homocystinuria-megaloblastic anemia cblE type 1
                    homocystinuria-megaloblastic anemia cblG type 1
                    hyaline fibromatosis syndrome 1
                    hydrolethalus syndrome + 3
                    hydroxykynureninuria 1
                    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 22
                    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 20 1
                    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 2
                    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 10 1
                    immunodeficiency 11A 7
                    immunodeficiency 12 1
                    immunodeficiency 15B 1
                    immunodeficiency 16 3
                    immunodeficiency 17 33
                    immunodeficiency 18 33
                    immunodeficiency 19 33
                    immunodeficiency 20 1
                    immunodeficiency 22 1
                    immunodeficiency 23 8
                    immunodeficiency 24 1
                    immunodeficiency 25 1
                    immunodeficiency 26 1
                    immunodeficiency 27A 1
                    immunodeficiency 28 4
                    immunodeficiency 29 1
                    immunodeficiency 30 1
                    immunodeficiency 31B 1
                    immunodeficiency 32B 1
                    immunodeficiency 35 1
                    immunodeficiency 37 1
                    immunodeficiency 38 1
                    immunodeficiency 40 8
                    immunodeficiency 41 1
                    immunodeficiency 42 1
                    immunodeficiency 43 1
                    immunodeficiency 44 2
                    immunodeficiency 45 1
                    immunodeficiency 46 1
                    immunodeficiency 48 1
                    immunodeficiency 51 1
                    immunodeficiency 52 1
                    immunodeficiency 53 1
                    immunodeficiency 54 1
                    immunodeficiency 55 1
                    immunodeficiency 56 1
                    immunodeficiency 57 1
                    immunodeficiency 58 1
                    immunodeficiency 59 1
                    immunodeficiency 61 1
                    immunodeficiency 62 1
                    immunodeficiency 63 1
                    immunodeficiency 64 1
                    immunodeficiency 65 1
                    immunodeficiency 66 1
                    immunodeficiency 69 1
                    immunodeficiency 7 0
                    immunodeficiency 71 1
                    immunodeficiency 72 1
                    immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
                    immunodeficiency 79 1
                    immunodeficiency 9 1
                    immunodeficiency with hyper IgM type 3 1
                    immunodeficiency with hyper IgM type 5 2
                    immunodeficiency with hyper-IgM type 2 4
                    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
                    infantile liver failure syndrome 1 1
                    inflammatory bowel disease 25 1
                    inflammatory bowel disease 28 34
                    intellectual developmental disorder with cardiac arrhythmia 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 2
                    isolated microphthalmia 3 1
                    isolated microphthalmia 5 2
                    isolated microphthalmia 6 5
                    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
                    keratosis pilaris atrophicans + 2
                    late-adult onset retinitis pigmentosa 0
                    lethal congenital contracture syndrome + 12
                    lethal restrictive dermopathy 4
                    leukocyte adhesion deficiency + 3
                    lissencephaly 4 3
                    lissencephaly 5 1
                    lissencephaly 6 1
                    lissencephaly 7 with cerebellar hypoplasia 1
                    lissencephaly 8 1
                    lymphoproliferative syndrome 1 1
                    lymphoproliferative syndrome 2 2
                    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 4
                    microcephaly and chorioretinopathy 2 1
                    microcephaly and chorioretinopathy 3 2
                    microcephaly, seizures, and developmental delay 1
                    microphthalmia with limb anomalies 1
                    microvillus inclusion disease + 3
                    mismatch repair cancer syndrome + 5
                    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 4B 3
                    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
                    mosaic variegated aneuploidy syndrome 3 1
                    mucolipidosis III alpha/beta + 2
                    mucolipidosis III gamma 2
                    mucopolysaccharidosis IVA 3
                    mucopolysaccharidosis Ih 3
                    mucopolysaccharidosis Ih/s 2
                    mucopolysaccharidosis type IIIA 4
                    mucopolysaccharidosis type IIIB 1
                    mucopolysaccharidosis type IIIC 3
                    mucopolysaccharidosis type IIID 2
                    mucopolysaccharidosis type IVB 2
                    mucosulfatidosis 2
                    mulibrey nanism 7
                    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 + 38
                    muscular dystrophy-dystroglycanopathy type B5 1
                    muscular dystrophy-dystroglycanopathy type B6 1
                    myofibrillar myopathy 10 1
                    myofibrillar myopathy 7 2
                    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 8
                    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 + 57
                    nephrotic syndrome type 1 12
                    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 21 2
                    nephrotic syndrome type 22 1
                    nephrotic syndrome type 23 1
                    nephrotic syndrome type 3 2
                    nephrotic syndrome type 5 2
                    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-type arthrogryposis multiplex congenita-2 2
                    nonphotosensitive trichothiodystrophy + 4
                    nonphotosensitive trichothiodystrophy 4 1
                    nonphotosensitive trichothiodystrophy 6 1
                    nonphotosensitive trichothiodystrophy 7 1
                    nonsyndromic congenital nail disorder 3 1
                    nonsyndromic congenital nail disorder 4 4
                    nonsyndromic congenital nail disorder 9 2
                    nuclear type mitochondrial complex I deficiency 1 29
                    nuclear type mitochondrial complex I deficiency 10 2
                    nuclear type mitochondrial complex I deficiency 11 1
                    nuclear type mitochondrial complex I deficiency 13 2
                    nuclear type mitochondrial complex I deficiency 14 1
                    nuclear type mitochondrial complex I deficiency 15 1
                    nuclear type mitochondrial complex I deficiency 16 1
                    nuclear type mitochondrial complex I deficiency 17 1
                    nuclear type mitochondrial complex I deficiency 18 1
                    nuclear type mitochondrial complex I deficiency 19 1
                    nuclear type mitochondrial complex I deficiency 2 1
                    nuclear type mitochondrial complex I deficiency 20 2
                    nuclear type mitochondrial complex I deficiency 21 4
                    nuclear type mitochondrial complex I deficiency 22 1
                    nuclear type mitochondrial complex I deficiency 23 1
                    nuclear type mitochondrial complex I deficiency 24 2
                    nuclear type mitochondrial complex I deficiency 25 1
                    nuclear type mitochondrial complex I deficiency 26 1
                    nuclear type mitochondrial complex I deficiency 27 1
                    nuclear type mitochondrial complex I deficiency 28 1
                    nuclear type mitochondrial complex I deficiency 29 1
                    nuclear type mitochondrial complex I deficiency 3 1
                    nuclear type mitochondrial complex I deficiency 31 1
                    nuclear type mitochondrial complex I deficiency 32 1
                    nuclear type mitochondrial complex I deficiency 33 1
                    nuclear type mitochondrial complex I deficiency 34 1
                    nuclear type mitochondrial complex I deficiency 35 2
                    nuclear type mitochondrial complex I deficiency 4 1
                    nuclear type mitochondrial complex I deficiency 5 1
                    nuclear type mitochondrial complex I deficiency 6 1
                    nuclear type mitochondrial complex I deficiency 7 1
                    nuclear type mitochondrial complex I deficiency 8 1
                    nuclear type mitochondrial complex I deficiency 9 2
                    oculocutaneous albinism + 37
                    omodysplasia 1 1
                    optic atrophy 11 1
                    optic atrophy 6 0
                    optic atrophy 7 1
                    optic atrophy 9 2
                    optic disc anomalies with retinal and/or macular dystrophy 1
                    orofacial cleft 14 0
                    orofacial cleft 7 + 1
                    orofaciodigital syndrome III 2
                    orofaciodigital syndrome IV 1
                    orofaciodigital syndrome IX 1
                    orofaciodigital syndrome V 1
                    orofaciodigital syndrome XVI 1
                    orofaciodigital syndrome XVII 1
                    osteogenesis imperfecta type 10 1
                    osteogenesis imperfecta type 11 1
                    osteogenesis imperfecta type 12 2
                    osteogenesis imperfecta type 13 2
                    osteogenesis imperfecta type 15 2
                    osteogenesis imperfecta type 17 1
                    osteogenesis imperfecta type 18 1
                    osteogenesis imperfecta type 20 1
                    osteogenesis imperfecta type 21 1
                    osteogenesis imperfecta type 7 3
                    osteogenesis imperfecta type 8 1
                    osteogenesis imperfecta type 9 2
                    osteoporosis-pseudoglioma syndrome 1
                    otospondylomegaepiphyseal dysplasia, autosomal recessive 2
                    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 + 8
                    peroxisome biogenesis disorder 2B 44
                    photosensitive trichothiodystrophy 1 3
                    photosensitive trichothiodystrophy 2 1
                    photosensitive trichothiodystrophy 3 2
                    plasminogen deficiency type I 1
                    platelet-type bleeding disorder 10 2
                    platelet-type bleeding disorder 11 1
                    platelet-type bleeding disorder 18 1
                    platelet-type bleeding disorder 19 0
                    platelet-type bleeding disorder 8 2
                    poikiloderma with neutropenia 1
                    postaxial acrofacial dysostosis 1
                    primary autosomal recessive microcephaly + 31
                    primary ciliary dyskinesia 38 1
                    primary ciliary dyskinesia 39 1
                    primary ciliary dyskinesia 40 2
                    primary ciliary dyskinesia 41 1
                    primary ciliary dyskinesia 42 1
                    primary ciliary dyskinesia 44 1
                    primary ciliary dyskinesia 45 1
                    primary coenzyme Q10 deficiency 9 1
                    primary ovarian insufficiency 10 1
                    primary ovarian insufficiency 12 1
                    primary ovarian insufficiency 13 1
                    primary ovarian insufficiency 14 1
                    primary ovarian insufficiency 15 1
                    primary ovarian insufficiency 18 1
                    primary ovarian insufficiency 19 1
                    primary ovarian insufficiency 8 1
                    primary ovarian insufficiency 9 1
                    progressive familial intrahepatic cholestasis 1 4
                    progressive familial intrahepatic cholestasis 2 2
                    progressive familial intrahepatic cholestasis 3 2
                    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
                    pyridoxine-dependent epilepsy 7
                    pyruvate kinase deficiency of red cells 2
                    rapadilino syndrome 1
                    recessive dystrophic epidermolysis bullosa 4
                    reticular dysgenesis 1
                    retinal dystrophy with leukodystrophy 1
                    retinitis pigmentosa 1 1
                    retinitis pigmentosa 12 5
                    retinitis pigmentosa 14 2
                    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 2
                    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 81 1
                    retinitis pigmentosa 84 1
                    retinitis pigmentosa 85 1
                    retinitis pigmentosa 88 1
                    retinitis pigmentosa 90 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 4
                    sarcosinemia 1
                    sclerosteosis 1 1
                    sclerosteosis 2 1
                    sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
                    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 7
                    severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
                    severe congenital neutropenia 3 2
                    severe congenital neutropenia 4 + 1
                    severe congenital neutropenia 5 1
                    severe congenital neutropenia 6 1
                    severe congenital neutropenia 7 1
                    short-rib thoracic dysplasia 10 with or without polydactyly 2
                    short-rib thoracic dysplasia 11 with or without polydactyly 2
                    short-rib thoracic dysplasia 13 with or without polydactyly 1
                    short-rib thoracic dysplasia 14 with polydactyly 1
                    short-rib thoracic dysplasia 18 with polydactyly 1
                    short-rib thoracic dysplasia 19 with or without polydactyly 1
                    short-rib thoracic dysplasia 6 with or without polydactyly 1
                    short-rib thoracic dysplasia 7 with or without polydactyly 2
                    short-rib thoracic dysplasia 8 with or without polydactyly 1
                    short-rib thoracic dysplasia 9 with or without polydactyly 5
                    sickle cell anemia + 43
                    sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                    sitosterolemia + 3
                    spastic ataxia 2 11
                    spastic ataxia 3 2
                    spastic ataxia 4 1
                    spastic ataxia 5 2
                    spastic ataxia 8 1
                    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 24 1
                    spermatogenic failure 25 1
                    spermatogenic failure 26 1
                    spermatogenic failure 27 1
                    spermatogenic failure 28 1
                    spermatogenic failure 29 1
                    spermatogenic failure 30 1
                    spermatogenic failure 31 2
                    spermatogenic failure 33 2
                    spermatogenic failure 34 1
                    spermatogenic failure 35 1
                    spermatogenic failure 37 1
                    spermatogenic failure 38 3
                    spermatogenic failure 39 1
                    spermatogenic failure 40 1
                    spermatogenic failure 41 1
                    spermatogenic failure 42 1
                    spermatogenic failure 43 1
                    spermatogenic failure 44 1
                    spermatogenic failure 45 1
                    spermatogenic failure 46 1
                    spermatogenic failure 47 1
                    spermatogenic failure 48 1
                    spermatogenic failure 49 1
                    spermatogenic failure 5 1
                    spermatogenic failure 50 1
                    spermatogenic failure 51 1
                    spermatogenic failure 52 1
                    spermatogenic failure 53 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 with joint laxity type 1 3
                    spondyloepimetaphyseal dysplasia with joint laxity type 3 1
                    spondyloepimetaphyseal dysplasia, Genevieve-type 2
                    spondyloepimetaphyseal dysplasia, Pakistani type 1
                    spondyloepimetaphyseal dysplasia, Sponastrime type 1
                    spondyloepiphyseal dysplasia Kondo-Fu type 1
                    spondyloepiphyseal dysplasia tarda with characteristic facies 0
                    spondyloepiphyseal dysplasia tarda with intellectual disability 0
                    spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
                    spondylometaepiphyseal dysplasia, short limb-hand type 1
                    spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
                    spondylometaphyseal dysplasia Sedaghatian type 1
                    spondylometaphyseal dysplasia with cone-rod dystrophy 1
                    spondylometaphyseal dysplasia with corneal dystrophy 1
                    stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                    syndromic microphthalmia 9 3
                    temtamy preaxial brachydactyly syndrome 1
                    tetraamelia syndrome 1 1
                    tetraamelia syndrome 2 1
                    thalassemia + 89
                    thiamine-responsive megaloblastic anemia syndrome 1
                    thrombocytopenia-absent radius syndrome 12
                    thyroid dyshormonogenesis 1 1
                    thyroid dyshormonogenesis 2A 1
                    thyroid dyshormonogenesis 3 2
                    thyroid dyshormonogenesis 4 1
                    thyroid dyshormonogenesis 5 1
                    thyroid dyshormonogenesis 6 1
                    torsion dystonia 17 0
                    torsion dystonia 2 1
                    transient bullous dermolysis of the newborn 1
                    transient infantile liver failure 1
                    trichohepatoenteric syndrome + 4
                    trimethylaminuria 1
                    triple-A syndrome 2
                    urocanase deficiency 1
                    urofacial syndrome + 2
                    ventriculomegaly - cystic kidney disease 1
                    visual impairment and progressive phthisis bulbi 1
                    vitamin D-dependent rickets type 1A 4
                    vitamin D-dependent rickets type 1B 1
                    vitamin D-dependent rickets type 2A 7
                    wrinkly skin syndrome 1
                    xeroderma pigmentosum + 19
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