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Reference - PB_REF:0000006 - Disease associations from Monarch via human-pombe orthologs

Reference summary

PubMed ID
PB_REF:0000006
Title
Disease associations from Monarch via human-pombe orthologs
Authors
PomBase curators
Abstract
Disease associations are created by taking human gene-disease causal and correlated associations created by Monarch (https://monarchinitiative.org) using the MONDO disease ontology (https://mondo.monarchinitiative.org/) and mapping to fission yeast orthologs (https://www.pombase.org/data/orthologs) using the manually maintained fission yeast/human ortholog table.

Annotation

Disease association

MONDO:0011614 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Genes:

MONDO:0009603 - 3-hydroxyisobutyryl-CoA hydrolase deficiency

Genes:

MONDO:0009787 - 3-methylglutaconic aciduria type 3

Genes:

MONDO:0012435 - 3-methylglutaconic aciduria type 5

Genes:

MONDO:0044723 - 3-methylglutaconic aciduria type 8

Genes:

MONDO:0044724 - 3-methylglutaconic aciduria type 9

Genes:

MONDO:0009916 - 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Genes:

MONDO:8000015 - 46,XY sex reversal 11

Genes:

MONDO:0009825 - 5-oxoprolinase deficiency

Genes:

MONDO:0014352 - abdominal obesity-metabolic syndrome 3

Genes:

MONDO:0007507 - absence of fingerprints-congenital milia syndrome

Genes:

MONDO:0013571 - acatalasia

Genes:

MONDO:0859262 - ACCES syndrome

Genes:

MONDO:0013493 - acetyl-coa carboxylase deficiency

Genes:

MONDO:0700300 - achalasia-progeroid syndrome

Genes:

MONDO:0008701 - achondrogenesis type IA

Genes:

MONDO:0010966 - achondrogenesis type IB

Genes:

MONDO:0014651 - acrofacial dysostosis Cincinnati type

Genes:

MONDO:0007048 - acrokeratosis verruciformis

Genes:

MONDO:0700299 - ACTH-independent macronodular adrenal hyperplasia 3

Genes:

MONDO:0013111 - acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Genes:

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Genes:

MONDO:0008294 - acute intermittent porphyria

Genes:

MONDO:0018874 - acute myeloid leukemia

Genes:

MONDO:0013895 - Adams-Oliver syndrome 3

Genes:

MONDO:0013869 - adenine phosphoribosyltransferase deficiency

Genes:

MONDO:0100255 - adenosine kinase deficiency

Genes:

MONDO:0007068 - adenylosuccinate lyase deficiency

Genes:

MONDO:1010154 - adult hypophosphatasia

Genes:

MONDO:0008453 - adult-onset proximal spinal muscular atrophy, autosomal dominant

Genes:

MONDO:0031044 - advance sleep phase syndrome, familial, 4

Genes:

MONDO:0014088 - advanced sleep phase syndrome 2

Genes:

MONDO:0030519 - agammaglobulinemia 9, autosomal recessive

Genes:

MONDO:0013409 - age related macular degeneration 5

Genes:

MONDO:0012099 - AICA-ribosiduria

Genes:

MONDO:0012429 - Aicardi-Goutieres syndrome 2

Genes:

MONDO:0012471 - Aicardi-Goutieres syndrome 3

Genes:

MONDO:0012472 - Aicardi-Goutieres syndrome 4

Genes:

MONDO:0014007 - Aicardi-Goutieres syndrome 6

Genes:

MONDO:0012282 - Al-Gazali syndrome

Genes:

MONDO:0014648 - Al-Raqad syndrome

Genes:

MONDO:0014219 - alacrima, achalasia, and intellectual disability syndrome

Genes:

MONDO:0014931 - Alazami-Yuan syndrome

Genes:

MONDO:0007079 - alcohol dependence

Genes:

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

Genes:

MONDO:0958001 - Alfadhel syndrome

Genes:

MONDO:0012052 - ALG1-congenital disorder of glycosylation

Genes:

MONDO:0013349 - ALG11-congenital disorder of glycosylation

Genes:

MONDO:0011783 - ALG12-congenital disorder of glycosylation

Genes:

MONDO:0011933 - ALG2-congenital disorder of glycosylation

Genes:

MONDO:0010998 - ALG3-congenital disorder of glycosylation

Genes:

MONDO:0011291 - ALG6-congenital disorder of glycosylation 1C

Genes:

MONDO:0011969 - ALG8-congenital disorder of glycosylation

Genes:

MONDO:0012117 - ALG9-congenital disorder of glycosylation

Genes:

MONDO:0030009 - alopecia-intellectual disability syndrome 4

Genes:

MONDO:0100084 - alpha-actinopathy

Genes:

MONDO:0012221 - alpha-N-acetylgalactosaminidase deficiency type 1

Genes:

MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

Genes:

MONDO:0011655 - alveolar soft part sarcoma

Genes:

MONDO:0030894 - AMED syndrome, digenic

Genes:

MONDO:0009185 - amelocerebrohypohidrotic syndrome

Genes:

MONDO:0011790 - Amish lethal microcephaly

Genes:

MONDO:0971004 - amyloidosis, hereditary systemic 1

Genes:

MONDO:0859529 - amyotrophic lateral sclerosis 27, juvenile

Genes:

MONDO:0007103 - amyotrophic lateral sclerosis type 1

Genes:

MONDO:0012945 - amyotrophic lateral sclerosis type 11

Genes:

MONDO:0010459 - amyotrophic lateral sclerosis type 15

Genes:

MONDO:0013715 - amyotrophic lateral sclerosis type 16

Genes:

MONDO:0014531 - amyotrophic lateral sclerosis type 22

Genes:

MONDO:0011223 - amyotrophic lateral sclerosis type 4

Genes:

MONDO:0012077 - amyotrophic lateral sclerosis type 8

Genes:

MONDO:0008076 - amyotrophic neuralgia

Genes:

MONDO:0054560 - anauxetic dysplasia 1

Genes:

MONDO:0054561 - anauxetic dysplasia 2

Genes:

MONDO:0030019 - anauxetic dysplasia 3

Genes:

MONDO:0012794 - ANE syndrome

Genes:

MONDO:0010480 - anemia, nonspherocytic hemolytic, due to G6PD deficiency

Genes:

MONDO:0030436 - anemia, sideroblastic, 5

Genes:

MONDO:0014937 - aniridia 2

Genes:

MONDO:0008726 - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Genes:

MONDO:0007568 - aortic aneurysm, familial thoracic 4

Genes:

MONDO:0012730 - aortic aneurysm, familial thoracic 6

Genes:

MONDO:0007145 - aplasia cutis congenita

Genes:

MONDO:0015909 - aplastic anemia

Genes:

MONDO:0009025 - apparent mineralocorticoid excess

Genes:

MONDO:0008814 - arginase deficiency

Genes:

MONDO:0008815 - argininosuccinic aciduria

Genes:

MONDO:0010284 - Armfield syndrome

Genes:

MONDO:0013768 - arterial calcification, generalized, of infancy, 2

Genes:

MONDO:0007154 - arteriovenous malformations of the brain

Genes:

MONDO:0032903 - arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Genes:

MONDO:0030281 - arthrogryposis multiplex congenita 6

Genes:

MONDO:0975826 - arthrogryposis multiplex congenita 7, X-linked

Genes:

MONDO:0032642 - arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

Genes:

MONDO:0030847 - arthrogryposis, distal, type 1C

Genes:

MONDO:0032751 - arthrogryposis, distal, type 2B3

Genes:

MONDO:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1

Genes:

MONDO:0010533 - Arts syndrome

Genes:

MONDO:0014557 - ataxia - oculomotor apraxia type 4

Genes:

MONDO:0008840 - ataxia telangiectasia

Genes:

MONDO:0008842 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Genes:

MONDO:0008980 - ataxia-hypogonadism-choroidal dystrophy syndrome

Genes:

MONDO:0024557 - ataxia-telangiectasia-like disorder 1

Genes:

MONDO:0014399 - ataxia-telangiectasia-like disorder 2

Genes:

MONDO:0859575 - Atelis syndrome 1

Genes:

MONDO:0859576 - Atelis syndrome 2

Genes:

MONDO:0009727 - atelosteogenesis type II

Genes:

MONDO:0700270 - ATM-related cancer predisposition

Genes:

MONDO:0014340 - atrial fibrillation, familial, 15

Genes:

MONDO:0015001 - atrial fibrillation, familial, 18

Genes:

MONDO:0013567 - atrial septal defect 3

Genes:

MONDO:0013011 - atrial septal defect 5

Genes:

MONDO:0013770 - atrial septal defect 9

Genes:

MONDO:0013769 - atrioventricular septal defect 5

Genes:

MONDO:0014700 - Au-Kline syndrome

Genes:

MONDO:0060582 - auditory neuropathy-optic atrophy syndrome

Genes:

MONDO:0013845 - auriculocondylar syndrome 2

Genes:

MONDO:0957544 - auriculocondylar syndrome 2B

Genes:

MONDO:0014248 - autism spectrum disorder - epilepsy - arthrogryposis syndrome

Genes:

MONDO:0013258 - autism, susceptibility to, 16

Genes:

MONDO:0014041 - autism, susceptibility to, 19

Genes:

MONDO:0010449 - autism, susceptibility to, X-linked 5

Genes:

MONDO:0014629 - autoimmune interstitial lung disease-arthritis syndrome

Genes:

MONDO:0013767 - autoimmune lymphoproliferative syndrome type 4

Genes:

MONDO:8000024 - autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Genes:

MONDO:0013944 - autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Genes:

MONDO:0013851 - autosomal dominant aplasia and myelodysplasia

Genes:

MONDO:0012196 - autosomal dominant auditory neuropathy 1

Genes:

MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

Genes:

MONDO:0014711 - autosomal dominant Charcot-Marie-Tooth disease type 2W

Genes:

MONDO:0008026 - autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Genes:

MONDO:0007420 - autosomal dominant deafness - onychodystrophy syndrome

Genes:

MONDO:0008368 - autosomal dominant distal renal tubular acidosis

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Genes:

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Genes:

MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

Genes:

MONDO:0007424 - autosomal dominant nonsyndromic hearing loss 1

Genes:

MONDO:0011350 - autosomal dominant nonsyndromic hearing loss 17

Genes:

MONDO:0011480 - autosomal dominant nonsyndromic hearing loss 20

Genes:

MONDO:0011568 - autosomal dominant nonsyndromic hearing loss 25

Genes:

MONDO:0014603 - autosomal dominant nonsyndromic hearing loss 40

Genes:

MONDO:0010915 - autosomal dominant nonsyndromic hearing loss 4A

Genes:

MONDO:0014594 - autosomal dominant nonsyndromic hearing loss 67

Genes:

MONDO:0014853 - autosomal dominant nonsyndromic hearing loss 70

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

Genes:

MONDO:0008156 - autosomal dominant osteopetrosis 2

Genes:

MONDO:0012166 - autosomal dominant sensory ataxia 1

Genes:

MONDO:0008422 - autosomal dominant sideroblastic anemia

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

Genes:

MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

Genes:

MONDO:0014010 - autosomal recessive congenital ichthyosis 9

Genes:

MONDO:0018163 - autosomal recessive cutis laxa type 2A

Genes:

MONDO:0013051 - autosomal recessive cutis laxa type 2B

Genes:

MONDO:0027462 - autosomal recessive cutis laxa type 2C

Genes:

MONDO:0027451 - autosomal recessive cutis laxa type 2D

Genes:

MONDO:0011436 - autosomal recessive distal spinal muscular atrophy 1

Genes:

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

Genes:

MONDO:0014796 - autosomal recessive early-onset Parkinson disease 23

Genes:

MONDO:0011658 - autosomal recessive early-onset Parkinson disease 7

Genes:

MONDO:0009925 - autosomal recessive inherited pseudoxanthoma elasticum

Genes:

MONDO:0009486 - autosomal recessive Kenny-Caffey syndrome

Genes:

MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

Genes:

MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

Genes:

MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

Genes:

MONDO:0012091 - autosomal recessive nonsyndromic hearing loss 32

Genes:

MONDO:0010933 - autosomal recessive nonsyndromic hearing loss 4

Genes:

MONDO:0013471 - autosomal recessive nonsyndromic hearing loss 61

Genes:

MONDO:0013386 - autosomal recessive nonsyndromic hearing loss 74

Genes:

MONDO:0014237 - autosomal recessive nonsyndromic hearing loss 76

Genes:

MONDO:0013489 - autosomal recessive nonsyndromic hearing loss 89

Genes:

MONDO:0009815 - autosomal recessive osteopetrosis 1

Genes:

MONDO:0012676 - autosomal recessive osteopetrosis 4

Genes:

MONDO:0011422 - autosomal recessive proximal renal tubular acidosis

Genes:

MONDO:0014975 - autosomal recessive spastic paraplegia type 78

Genes:

MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

Genes:

MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

Genes:

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

Genes:

MONDO:0013223 - autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Genes:

MONDO:0012243 - B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Genes:

MONDO:0009039 - Baller-Gerold syndrome

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

Genes:

MONDO:0031002 - Baralle-Macken syndrome

Genes:

MONDO:0013662 - Barrett esophagus

Genes:

MONDO:0014628 - basal ganglia calcification, idiopathic, 6

Genes:

MONDO:0008858 - Behr syndrome

Genes:

MONDO:0008206 - benign paroxysmal tonic upgaze of childhood with ataxia

Genes:

MONDO:0011559 - benign recurrent intrahepatic cholestasis type 2

Genes:

MONDO:0008860 - beta-aminoisobutyric acid, urinary excretion of

Genes:

MONDO:0008760 - beta-ketothiolase deficiency

Genes:

MONDO:0012986 - bilateral parasagittal parieto-occipital polymicrogyria

Genes:

MONDO:0800445 - Birt-Hogg-Dube syndrome 1

Genes:

MONDO:0009872 - Bjornstad syndrome

Genes:

MONDO:0957580 - bleeding disorder, platelet-type, 25

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

Genes:

MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type

Genes:

MONDO:0859139 - blepharophimosis-impaired intellectual development syndrome

Genes:

MONDO:0008876 - Bloom syndrome

Genes:

MONDO:0859288 - bone marrow failure and diabetes mellitus syndrome

Genes:

MONDO:0014887 - bone marrow failure syndrome 3

Genes:

MONDO:0002629 - bone osteosarcoma

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

Genes:

MONDO:0044311 - brachycephaly, trichomegaly, and developmental delay

Genes:

MONDO:0013253 - breast-ovarian cancer, familial, susceptibility to, 3

Genes:

MONDO:0013669 - breast-ovarian cancer, familial, susceptibility to, 4

Genes:

MONDO:0010977 - Brody myopathy

Genes:

MONDO:0009806 - Bruck syndrome 1

Genes:

MONDO:0012728 - Brugada syndrome 2

Genes:

MONDO:0030606 - Bryant-Li-Bhoj neurodevelopmental syndrome 1

Genes:

MONDO:0030607 - Bryant-Li-Bhoj neurodevelopmental syndrome 2

Genes:

MONDO:0012499 - Buruli ulcer, susceptibility to

Genes:

MONDO:0008157 - Buschke-Ollendorff syndrome

Genes:

MONDO:0010829 - CARASIL syndrome

Genes:

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

Genes:

MONDO:0008913 - cardiac valvular defect, developmental

Genes:

MONDO:0030876 - cardioacrofacial dysplasia 1

Genes:

MONDO:0030877 - cardioacrofacial dysplasia 2

Genes:

MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Genes:

MONDO:0014051 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Genes:

MONDO:0014667 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Genes:

MONDO:0014668 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

Genes:

MONDO:0032592 - cardiomyopathy, dilated, 2c

Genes:

MONDO:0030300 - cardiomyopathy, dilated, 2D

Genes:

MONDO:0859358 - cardiomyopathy, dilated, 2H

Genes:

MONDO:0957545 - cardiomyopathy, dilated, 2I

Genes:

MONDO:0030330 - cardiomyopathy, familial restrictive, 6

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

Genes:

MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

Genes:

MONDO:0011740 - Carney-Stratakis syndrome

Genes:

MONDO:0020730 - carpal tunnel syndrome 1

Genes:

MONDO:0009595 - cartilage-hair hypoplasia

Genes:

MONDO:0013411 - cataract 16 multiple types

Genes:

MONDO:0011547 - cataract 31 multiple types

Genes:

MONDO:0013859 - cataract 38

Genes:

MONDO:0014565 - cataract 43

Genes:

MONDO:0014673 - cataract 44

Genes:

MONDO:0008925 - cataract 46 juvenile-onset

Genes:

MONDO:0032735 - cataract 48

Genes:

MONDO:0011413 - cataract 9 multiple types

Genes:

MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Genes:

MONDO:0958178 - cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Genes:

MONDO:0958193 - cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

Genes:

MONDO:0013529 - catecholaminergic polymorphic ventricular tachycardia 3

Genes:

MONDO:0013966 - catecholaminergic polymorphic ventricular tachycardia 4

Genes:

MONDO:0014507 - Catel-Manzke syndrome

Genes:

MONDO:0032901 - Catifa syndrome

Genes:

MONDO:0018947 - centronuclear myopathy

Genes:

MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Genes:

MONDO:0859200 - cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Genes:

MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Genes:

MONDO:0014811 - cerebellar atrophy, visual impairment, and psychomotor retardation;

Genes:

MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

Genes:

MONDO:0035819 - cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

Genes:

MONDO:0014529 - cerebellar-facial-dental syndrome

Genes:

MONDO:0014768 - cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Genes:

MONDO:0975952 - cerebral cavernous malformations 5

Genes:

MONDO:0014862 - cerebral palsy, spastic quadriplegic, 3

Genes:

MONDO:0007301 - cerebrocostomandibular syndrome

Genes:

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

Genes:

MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

Genes:

MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

Genes:

MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

Genes:

MONDO:0015026 - cerebroretinal microangiopathy with calcifications and cysts 2

Genes:

MONDO:0957264 - cerebroretinal microangiopathy with calcifications and cysts 3

Genes:

MONDO:0012650 - Cernunnos-XLF deficiency

Genes:

MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Genes:

MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

Genes:

MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

Genes:

MONDO:0013212 - Charcot-Marie-Tooth disease axonal type 2N

Genes:

MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

Genes:

MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S

Genes:

MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

Genes:

MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

Genes:

MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

Genes:

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

Genes:

MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

Genes:

MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

Genes:

MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

Genes:

MONDO:0011570 - Charcot-Marie-Tooth disease type 2B2

Genes:

MONDO:0011091 - Charcot-Marie-Tooth disease type 2D

Genes:

MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

Genes:

MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

Genes:

MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

Genes:

MONDO:0012640 - Charcot-Marie-Tooth disease type 4J

Genes:

MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

Genes:

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

Genes:

MONDO:0010689 - Charcot-Marie-Tooth disease X-linked recessive 4

Genes:

MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

Genes:

MONDO:0014906 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Genes:

MONDO:0032728 - Charcot-Marie-Tooth disease, axonal, type 2EE

Genes:

MONDO:0011675 - Charcot-Marie-Tooth Disease, axonal, type 2GG

Genes:

MONDO:0030677 - Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Genes:

MONDO:0010621 - CHILD syndrome

Genes:

MONDO:0013761 - childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Genes:

MONDO:1010168 - childhood hypophosphatasia

Genes:

MONDO:0044701 - childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Genes:

MONDO:0010221 - CHIME syndrome

Genes:

MONDO:0012064 - choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Genes:

MONDO:0013995 - cholestasis, intrahepatic, of pregnancy, 3

Genes:

MONDO:0030810 - cholestasis, progressive familial intrahepatic, 10

Genes:

MONDO:0031040 - cholestasis, progressive familial intrahepatic, 12

Genes:

MONDO:0012997 - cholestasis-pigmentary retinopathy-cleft palate syndrome

Genes:

MONDO:0019149 - cholesteryl ester storage disease

Genes:

MONDO:0010814 - chondrodysplasia-pseudohermaphroditism syndrome

Genes:

MONDO:0008695 - chorea-acanthocytosis

Genes:

MONDO:0010557 - choroideremia

Genes:

MONDO:0010278 - Christianson syndrome

Genes:

MONDO:0013256 - chromosome 15q24 deletion syndrome

Genes:

MONDO:0014528 - chronic atrial and intestinal dysrhythmia

Genes:

MONDO:0009528 - chylomicron retention disease

Genes:

MONDO:0008988 - citrullinemia type I

Genes:

MONDO:0010441 - CK syndrome

Genes:

MONDO:0030914 - Clark-Baraitser syndrome

Genes:

MONDO:0009258 - classic galactosemia

Genes:

MONDO:0009352 - classic homocystinuria

Genes:

MONDO:0019569 - Cockayne syndrome type 1

Genes:

MONDO:0019570 - Cockayne syndrome type 2

Genes:

MONDO:0010879 - CODAS syndrome

Genes:

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

Genes:

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

Genes:

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

Genes:

MONDO:0010561 - Coffin-Lowry syndrome

Genes:

MONDO:0007617 - Coffin-Siris syndrome 1

Genes:

MONDO:0032912 - Coffin-Siris syndrome 11

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

Genes:

MONDO:0012637 - COG1-congenital disorder of glycosylation

Genes:

MONDO:0013281 - COG4-congenital disorder of glycosylation

Genes:

MONDO:0013325 - COG5-congenital disorder of glycosylation

Genes:

MONDO:0013810 - COG6-congenital disorder of glycosylation

Genes:

MONDO:0012635 - COG8-congenital disorder of glycosylation

Genes:

MONDO:0014609 - cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

Genes:

MONDO:0007204 - Cole-Carpenter syndrome 1

Genes:

MONDO:0014573 - Cole-Carpenter syndrome 2

Genes:

MONDO:0005575 - colorectal cancer

Genes:

MONDO:0012953 - colorectal cancer, susceptibility to, 10

Genes:

MONDO:0014038 - colorectal cancer, susceptibility to, 12

Genes:

MONDO:0060611 - combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Genes:

MONDO:0014391 - combined immunodeficiency due to CTPS1 deficiency

Genes:

MONDO:0044725 - combined immunodeficiency due to GINS1 deficiency

Genes:

MONDO:0013661 - combined malonic and methylmalonic acidemia

Genes:

MONDO:0013969 - combined oxidative phosphorylation defect type 11

Genes:

MONDO:0013986 - combined oxidative phosphorylation defect type 14

Genes:

MONDO:0013987 - combined oxidative phosphorylation defect type 15

Genes:

MONDO:0014190 - combined oxidative phosphorylation defect type 17

Genes:

MONDO:0012510 - combined oxidative phosphorylation defect type 2

Genes:

MONDO:0014397 - combined oxidative phosphorylation defect type 20

Genes:

MONDO:0014398 - combined oxidative phosphorylation defect type 21

Genes:

MONDO:0014525 - combined oxidative phosphorylation defect type 23

Genes:

MONDO:0014547 - combined oxidative phosphorylation defect type 24

Genes:

MONDO:0014636 - combined oxidative phosphorylation defect type 25

Genes:

MONDO:0014684 - combined oxidative phosphorylation defect type 26

Genes:

MONDO:0012534 - combined oxidative phosphorylation defect type 4

Genes:

MONDO:0013306 - combined oxidative phosphorylation defect type 7

Genes:

MONDO:0013570 - combined oxidative phosphorylation defect type 8

Genes:

MONDO:0013811 - combined oxidative phosphorylation defect type 9

Genes:

MONDO:0014269 - combined oxidative phosphorylation deficiency 19

Genes:

MONDO:0020727 - combined oxidative phosphorylation deficiency 22

Genes:

MONDO:0014775 - combined oxidative phosphorylation deficiency 28

Genes:

MONDO:0054677 - combined oxidative phosphorylation deficiency 33

Genes:

MONDO:0054741 - combined oxidative phosphorylation deficiency 34

Genes:

MONDO:0054742 - combined oxidative phosphorylation deficiency 35

Genes:

MONDO:0054781 - combined oxidative phosphorylation deficiency 36

Genes:

MONDO:0032712 - combined oxidative phosphorylation deficiency 38

Genes:

MONDO:0032726 - combined oxidative phosphorylation deficiency 39

Genes:

MONDO:0030006 - combined oxidative phosphorylation deficiency 40

Genes:

MONDO:0030007 - combined oxidative phosphorylation deficiency 41

Genes:

MONDO:0030008 - combined oxidative phosphorylation deficiency 42

Genes:

MONDO:0030017 - combined oxidative phosphorylation deficiency 43

Genes:

MONDO:0033533 - combined oxidative phosphorylation deficiency 45

Genes:

MONDO:0033534 - combined oxidative phosphorylation deficiency 46

Genes:

MONDO:0033537 - combined oxidative phosphorylation deficiency 47

Genes:

MONDO:0033570 - combined oxidative phosphorylation deficiency 50

Genes:

MONDO:0030311 - combined oxidative phosphorylation deficiency 52

Genes:

MONDO:0859228 - combined oxidative phosphorylation deficiency 55

Genes:

MONDO:0859323 - combined oxidative phosphorylation deficiency 56

Genes:

MONDO:0859337 - combined oxidative phosphorylation deficiency 57

Genes:

MONDO:0957992 - combined oxidative phosphorylation deficiency 59

Genes:

MONDO:0013541 - complex cortical dysplasia with other brain malformations 1

Genes:

MONDO:0014171 - complex cortical dysplasia with other brain malformations 4

Genes:

MONDO:0014337 - complex cortical dysplasia with other brain malformations 5

Genes:

MONDO:0014341 - complex cortical dysplasia with other brain malformations 6

Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

Genes:

MONDO:0014821 - complex lethal osteochondrodysplasia

Genes:

MONDO:0014372 - cone-rod dystrophy 19

Genes:

MONDO:0014669 - cone-rod dystrophy 21

Genes:

MONDO:0013310 - congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Genes:

MONDO:0012393 - congenital brain dysgenesis due to glutamine synthetase deficiency

Genes:

MONDO:0013116 - congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Genes:

MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

Genes:

MONDO:0014556 - congenital contractures of the limbs and face, hypotonia, and developmental delay

Genes:

MONDO:0014375 - congenital diarrhea 7 with exudative enteropathy

Genes:

MONDO:0800044 - congenital disorder of deglycosylation 1

Genes:

MONDO:0030770 - congenital disorder of deglycosylation 2

Genes:

MONDO:0012123 - congenital disorder of glycosylation type 1E

Genes:

MONDO:0014904 - congenital disorder of glycosylation, type IAA

Genes:

MONDO:0026729 - congenital disorder of glycosylation, type ICC

Genes:

MONDO:0957540 - congenital disorder of glycosylation, type IIaa

Genes:

MONDO:0957820 - congenital disorder of glycosylation, type IIbb

Genes:

MONDO:0054559 - congenital disorder of glycosylation, type IIq

Genes:

MONDO:0859356 - congenital disorder of glycosylation, type IIy

Genes:

MONDO:0859357 - congenital disorder of glycosylation, type IIz

Genes:

MONDO:0859223 - congenital disorder of glycosylation, type Iw, autosomal dominant

Genes:

MONDO:0009134 - congenital dyserythropoietic anemia type 2

Genes:

MONDO:0007109 - congenital dyserythropoietic anemia type 3

Genes:

MONDO:0012071 - congenital generalized lipodystrophy type 1

Genes:

MONDO:0010020 - congenital generalized lipodystrophy type 2

Genes:

MONDO:0044302 - congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Genes:

MONDO:0013760 - congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Genes:

MONDO:0014258 - congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Genes:

MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

Genes:

MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Genes:

MONDO:0012518 - congenital myasthenic syndrome 12

Genes:

MONDO:0013883 - congenital myasthenic syndrome 13

Genes:

MONDO:0014543 - congenital myasthenic syndrome 14

Genes:

MONDO:0014542 - congenital myasthenic syndrome 15

Genes:

MONDO:0014590 - congenital myasthenic syndrome 18

Genes:

MONDO:0859264 - congenital myopathy 11

Genes:

MONDO:0957224 - congenital myopathy 21 with early respiratory failure

Genes:

MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant

Genes:

MONDO:0859517 - congenital myopathy 2b, severe infantile, autosomal recessive

Genes:

MONDO:0859523 - congenital myopathy 2c, severe infantile, autosomal dominant

Genes:

MONDO:0800341 - congenital myopathy 4A, autosomal dominant

Genes:

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

Genes:

MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

Genes:

MONDO:0034109 - congenital myopathy with reduced type 2 muscle fibers

Genes:

MONDO:0014118 - congenital neutropenia-myelofibrosis-nephromegaly syndrome

Genes:

MONDO:0008964 - congenital secretory chloride diarrhea 1

Genes:

MONDO:0014487 - congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Genes:

MONDO:0014872 - congenital stationary night blindness 1H

Genes:

MONDO:0009114 - congenital sucrase-isomaltase deficiency

Genes:

MONDO:0016581 - conotruncal heart malformations

Genes:

MONDO:0008338 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Genes:

MONDO:0020746 - contractures, pterygia, and variable skeletal fusions syndrome 1B

Genes:

MONDO:0007387 - Cornelia de Lange syndrome 1

Genes:

MONDO:0010370 - Cornelia de Lange syndrome 2

Genes:

MONDO:0012555 - Cornelia de Lange syndrome 3

Genes:

MONDO:0013864 - Cornelia de Lange syndrome 4

Genes:

MONDO:0957921 - Cornelia de Lange syndrome 6

Genes:

MONDO:0012011 - coronary artery disease, autosomal dominant, 1

Genes:

MONDO:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Genes:

MONDO:0011503 - cortisone reductase deficiency 1

Genes:

MONDO:0009026 - Costello syndrome

Genes:

MONDO:0008021 - Cowden syndrome 1

Genes:

MONDO:0014048 - Cowden syndrome 6

Genes:

MONDO:0014802 - Cowden syndrome 7

Genes:

MONDO:0958175 - craniofacial microsomia 1

Genes:

MONDO:0011911 - craniolenticulosutural dysplasia

Genes:

MONDO:0008494 - cryohydrocytosis

Genes:

MONDO:0009050 - Cushing disease due to pituitary adenoma

Genes:

MONDO:0009902 - cutaneous porphyria

Genes:

MONDO:0014706 - cutis laxa, autosomal dominant 3

Genes:

MONDO:0009058 - cystathioninuria

Genes:

MONDO:0018794 - cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Genes:

MONDO:0014072 - D,L-2-hydroxyglutaric aciduria

Genes:

MONDO:0024554 - D-2-hydroxyglutaric aciduria 1

Genes:

MONDO:0013345 - d-2-hydroxyglutaric aciduria 2

Genes:

MONDO:0007417 - Darier disease

Genes:

MONDO:0013789 - DDOST-congenital disorder of glycosylation

Genes:

MONDO:0010217 - de Sanctis-Cacchione syndrome

Genes:

MONDO:0010578 - deafness dystonia syndrome

Genes:

MONDO:0010799 - deafness, aminoglycoside-induced

Genes:

MONDO:0859159 - deafness, cataract, impaired intellectual development, and polyneuropathy

Genes:

MONDO:0030967 - deafness, congenital, and adult-onset progressive leukoencephalopathy

Genes:

MONDO:0027048 - deafness, Y-linked 2

Genes:

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Genes:

MONDO:0010225 - Dent disease type 1

Genes:

MONDO:0010359 - Dent disease type 2

Genes:

MONDO:0030881 - developmental and epileptic encephalopathy 102

Genes:

MONDO:0031021 - developmental and epileptic encephalopathy 104

Genes:

MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism

Genes:

MONDO:0031055 - developmental and epileptic encephalopathy 107

Genes:

MONDO:0859325 - developmental and epileptic encephalopathy 109

Genes:

MONDO:0957780 - developmental and epileptic encephalopathy 111

Genes:

MONDO:0958330 - developmental and epileptic encephalopathy 113

Genes:

MONDO:0968946 - developmental and epileptic encephalopathy 115

Genes:

MONDO:0970945 - developmental and epileptic encephalopathy 116

Genes:

MONDO:0020630 - developmental and epileptic encephalopathy 91

Genes:

MONDO:0020632 - developmental and epileptic encephalopathy 93

Genes:

MONDO:0014150 - developmental and epileptic encephalopathy 94

Genes:

MONDO:0023659 - developmental and epileptic encephalopathy 96

Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

Genes:

MONDO:0014199 - developmental and epileptic encephalopathy, 17

Genes:

MONDO:0014392 - developmental and epileptic encephalopathy, 25

Genes:

MONDO:0014593 - developmental and epileptic encephalopathy, 29

Genes:

MONDO:0012245 - developmental and epileptic encephalopathy, 3

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

Genes:

MONDO:0957248 - developmental and epileptic encephalopathy, 31B

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

Genes:

MONDO:0010472 - developmental and epileptic encephalopathy, 36

Genes:

MONDO:0014868 - developmental and epileptic encephalopathy, 38

Genes:

MONDO:0012812 - developmental and epileptic encephalopathy, 4

Genes:

MONDO:0014895 - developmental and epileptic encephalopathy, 40

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

Genes:

MONDO:0015000 - developmental and epileptic encephalopathy, 48

Genes:

MONDO:0014647 - developmental and epileptic encephalopathy, 50

Genes:

MONDO:0015025 - developmental and epileptic encephalopathy, 51

Genes:

MONDO:0033362 - developmental and epileptic encephalopathy, 53

Genes:

MONDO:0033364 - developmental and epileptic encephalopathy, 55

Genes:

MONDO:0033365 - developmental and epileptic encephalopathy, 56

Genes:

MONDO:0029138 - developmental and epileptic encephalopathy, 67

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

Genes:

MONDO:0032752 - developmental and epileptic encephalopathy, 75

Genes:

MONDO:0032768 - developmental and epileptic encephalopathy, 76

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

Genes:

MONDO:0032858 - developmental and epileptic encephalopathy, 81

Genes:

MONDO:0032880 - developmental and epileptic encephalopathy, 82

Genes:

MONDO:0032895 - developmental and epileptic encephalopathy, 83

Genes:

MONDO:0026771 - developmental and epileptic encephalopathy, 85, with or without midline brain defects

Genes:

MONDO:0030059 - developmental and epileptic encephalopathy, 87

Genes:

MONDO:0044326 - developmental delay and seizures with or without movement abnormalities

Genes:

MONDO:0032760 - developmental delay with or without dysmorphic facies and autism

Genes:

MONDO:0800438 - developmental delay with short stature, dysmorphic facial features, and sparse hair 1

Genes:

MONDO:0100217 - developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Genes:

MONDO:0859218 - developmental delay with variable neurologic and brain abnormalities

Genes:

MONDO:0957810 - developmental delay, dysmorphic facies, and brain anomalies

Genes:

MONDO:0859280 - developmental delay, hypotonia, and impaired language

Genes:

MONDO:0859202 - developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Genes:

MONDO:0859263 - developmental delay, impaired speech, and behavioral abnormalities, with or without seizures

Genes:

MONDO:0859324 - developmental delay, language impairment, and ocular abnormalities

Genes:

MONDO:0014488 - diabetes mellitus, noninsulin-dependent, 5

Genes:

MONDO:0007110 - Diamond-Blackfan anemia 1

Genes:

MONDO:0013217 - Diamond-Blackfan anemia 10

Genes:

MONDO:0013964 - Diamond-Blackfan anemia 11

Genes:

MONDO:0014245 - Diamond-Blackfan anemia 12

Genes:

MONDO:0014394 - Diamond-Blackfan anemia 13

Genes:

MONDO:0010493 - Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Genes:

MONDO:0011639 - Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Genes:

MONDO:0044309 - Diamond-Blackfan anemia 16

Genes:

MONDO:0044310 - Diamond-Blackfan anemia 17

Genes:

MONDO:0032668 - Diamond-Blackfan anemia 18

Genes:

MONDO:0032669 - Diamond-Blackfan anemia 19

Genes:

MONDO:0032670 - Diamond-Blackfan anemia 20

Genes:

MONDO:0031071 - Diamond-Blackfan anemia 21

Genes:

MONDO:0012529 - Diamond-Blackfan anemia 3

Genes:

MONDO:0012924 - Diamond-Blackfan anemia 4

Genes:

MONDO:0012925 - Diamond-Blackfan anemia 5

Genes:

MONDO:0012937 - Diamond-Blackfan anemia 6

Genes:

MONDO:0012938 - Diamond-Blackfan anemia 7

Genes:

MONDO:0012939 - Diamond-Blackfan anemia 8

Genes:

MONDO:0013216 - Diamond-Blackfan anemia 9

Genes:

MONDO:0859571 - diaphragmatic hernia 4, with cardiovascular defects

Genes:

MONDO:0007205 - diaphyseal medullary stenosis-bone malignancy syndrome

Genes:

MONDO:0976266 - diarrhea 14, congenital

Genes:

MONDO:0012803 - diarrhea-vomiting due to trehalase deficiency

Genes:

MONDO:0009107 - diastrophic dysplasia

Genes:

MONDO:0100216 - DICER1-related tumor predisposition

Genes:

MONDO:0014335 - diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Genes:

MONDO:0005021 - dilated cardiomyopathy

Genes:

MONDO:0012808 - dilated cardiomyopathy 1AA

Genes:

MONDO:0013198 - dilated cardiomyopathy 1EE

Genes:

MONDO:0013339 - dilated cardiomyopathy 1GG

Genes:

MONDO:0014073 - dilated cardiomyopathy 1II

Genes:

MONDO:0013261 - dilated cardiomyopathy 1R

Genes:

MONDO:0013262 - dilated cardiomyopathy 1S

Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

Genes:

MONDO:0011686 - DNA ligase IV deficiency

Genes:

MONDO:0012994 - dopa-responsive dystonia due to sepiapterin reductase deficiency

Genes:

MONDO:0010155 - Dorfman-Chanarin disease

Genes:

MONDO:0011964 - DPAGT1-congenital disorder of glycosylation

Genes:

MONDO:0013049 - DPM3-congenital disorder of glycosylation

Genes:

MONDO:0011444 - Duane retraction syndrome 2

Genes:

MONDO:0009380 - Dubin-Johnson syndrome

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

Genes:

MONDO:0007483 - dyschromatosis symmetrica hereditaria

Genes:

MONDO:0014169 - dyschromatosis universalis hereditaria 3

Genes:

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

Genes:

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

Genes:

MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

Genes:

MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1

Genes:

MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

Genes:

MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

Genes:

MONDO:0014600 - dyskeratosis congenita, autosomal recessive 6

Genes:

MONDO:0031057 - dyskeratosis congenita, digenic

Genes:

MONDO:0010584 - dyskeratosis congenita, X-linked

Genes:

MONDO:0025691 - dystonia 30

Genes:

MONDO:0030486 - dystonia 32

Genes:

MONDO:0030513 - dystonia 33

Genes:

MONDO:0030958 - dystonia 35, childhood-onset

Genes:

MONDO:0957385 - dystonia 37, early-onset, with striatal lesions

Genes:

MONDO:0007495 - dystonia 5

Genes:

MONDO:0015003 - dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Genes:

MONDO:0859215 - dystonia, early-onset, and/or spastic paraplegia

Genes:

MONDO:0014233 - early-onset Parkinson disease 20

Genes:

MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Genes:

MONDO:0032884 - ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies

Genes:

MONDO:0013800 - Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Genes:

MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type

Genes:

MONDO:0014139 - Ehlers-Danlos syndrome, spondylodysplastic type, 2

Genes:

MONDO:0970951 - El Hayek-Chahrour neurodevelopmental disorder

Genes:

MONDO:0030334 - encephalitis, acute, infection (viral)-induced, susceptibility to, 11

Genes:

MONDO:0975801 - encephalopathy, acute transient

Genes:

MONDO:0032742 - encephalopathy, acute, infection-induced, susceptibility to, 9

Genes:

MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

Genes:

MONDO:0060562 - encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Genes:

MONDO:0958224 - encephalopathy, porphyria-related

Genes:

MONDO:0020781 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Genes:

MONDO:0032681 - encephalopathy, progressive, early-onset, with episodic rhabdomyolysis

Genes:

MONDO:0014968 - encephalopathy, progressive, with amyotrophy and optic atrophy

Genes:

MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Genes:

MONDO:0012980 - endocrine-cerebro-osteodysplasia syndrome

Genes:

MONDO:0011962 - endometrial cancer

Genes:

MONDO:0030979 - ENDOVE syndrome, limb-brain type

Genes:

MONDO:0958196 - epilepsy, early-onset, 3, with or without developmental delay

Genes:

MONDO:0015005 - epilepsy, early-onset, vitamin B6-dependent

Genes:

MONDO:0030005 - epilepsy, early-onset, with or without developmental delay

Genes:

MONDO:0013322 - epilepsy, familial adult myoclonic, 3

Genes:

MONDO:0054846 - epilepsy, familial adult myoclonic, 6

Genes:

MONDO:0024556 - epilepsy, familial focal, with variable foci 1

Genes:

MONDO:0014924 - epilepsy, familial focal, with variable foci 2

Genes:

MONDO:0014925 - epilepsy, familial focal, with variable foci 3

Genes:

MONDO:0060671 - epilepsy, juvenile myoclonic, susceptibility to, 10

Genes:

MONDO:0033014 - erythrokeratodermia variabilis et progressiva 4

Genes:

MONDO:0007781 - essential hypertension, genetic

Genes:

MONDO:0014801 - even-plus syndrome

Genes:

MONDO:0014795 - exercise intolerance, riboflavin-responsive

Genes:

MONDO:0010526 - Fabry disease

Genes:

MONDO:0014058 - facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Genes:

MONDO:0060589 - facial palsy, congenital, with ptosis and velopharyngeal dysfunction

Genes:

MONDO:0009206 - factor V and factor VIII, combined deficiency of, type 1

Genes:

MONDO:0012041 - familial adenomatous polyposis 2

Genes:

MONDO:0014630 - familial adenomatous polyposis 3

Genes:

MONDO:0044300 - familial adenomatous polyposis 4

Genes:

MONDO:0013766 - familial cold autoinflammatory syndrome 3

Genes:

MONDO:0013806 - familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Genes:

MONDO:0012146 - familial hemophagocytic lymphohistiocytosis 3

Genes:

MONDO:0011336 - familial hemophagocytic lymphohistiocytosis 4

Genes:

MONDO:0013135 - familial hemophagocytic lymphohistiocytosis 5

Genes:

MONDO:0010926 - familial hypocalciuric hypercalcemia 3

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

Genes:

MONDO:0010066 - familial isolated congenital asplenia

Genes:

MONDO:0011789 - familial meningioma

Genes:

MONDO:0015278 - familial pancreatic carcinoma

Genes:

MONDO:0008296 - familial porphyria cutanea tarda

Genes:

MONDO:0012204 - familial pseudohyperkalemia

Genes:

MONDO:0008259 - familial spontaneous pneumothorax

Genes:

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

Genes:

MONDO:0013248 - Fanconi anemia complementation group O

Genes:

MONDO:0013499 - Fanconi anemia complementation group P

Genes:

MONDO:0014108 - Fanconi anemia complementation group Q

Genes:

MONDO:0014986 - Fanconi anemia complementation group R

Genes:

MONDO:0014987 - Fanconi anemia complementation group U

Genes:

MONDO:0014985 - Fanconi anemia complementation group V

Genes:

MONDO:0013472 - fatal infantile hypertonic myofibrillar myopathy

Genes:

MONDO:0012512 - fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Genes:

MONDO:0859163 - Faundes-Banka syndrome

Genes:

MONDO:0018346 - ferro-cerebro-cutaneous syndrome

Genes:

MONDO:0100104 - fetal akinesia deformation sequence 4

Genes:

MONDO:0010590 - FG syndrome 1

Genes:

MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Genes:

MONDO:0700301 - Fischer-Zirnsak progeroid syndrome

Genes:

MONDO:0007620 - fish eye disease

Genes:

MONDO:0007376 - fleck corneal dystrophy

Genes:

MONDO:0007621 - Floating-Harbor syndrome

Genes:

MONDO:0013997 - focal facial dermal dysplasia type IV

Genes:

MONDO:0011303 - focal segmental glomerulosclerosis 1

Genes:

MONDO:0013589 - focal segmental glomerulosclerosis 6

Genes:

MONDO:0014462 - focal segmental glomerulosclerosis 8

Genes:

MONDO:0012853 - Fontaine progeroid syndrome

Genes:

MONDO:0009579 - Frank-Ter Haar syndrome

Genes:

MONDO:0010659 - FRAXE intellectual disability

Genes:

MONDO:0010027 - free sialic acid storage disease, infantile form

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

Genes:

MONDO:0100340 - Friedreich ataxia 1

Genes:

MONDO:0014395 - frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Genes:

MONDO:0013501 - frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Genes:

MONDO:0010936 - frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Genes:

MONDO:0009251 - fructose-1,6-bisphosphatase deficiency

Genes:

MONDO:0011730 - fumaric aciduria

Genes:

MONDO:0013166 - GABA aminotransaminase deficiency

Genes:

MONDO:0009257 - galactose epimerase deficiency

Genes:

MONDO:0009737 - galactosialidosis

Genes:

MONDO:0010939 - gallbladder disease 1

Genes:

MONDO:1010151 - gallbladder disease 4

Genes:

MONDO:0030476 - Galloway-Mowat syndrome 10

Genes:

MONDO:0033006 - Galloway-Mowat syndrome 2, X-linked

Genes:

MONDO:0033007 - Galloway-Mowat syndrome 3

Genes:

MONDO:0033008 - Galloway-Mowat syndrome 4

Genes:

MONDO:0033009 - Galloway-Mowat syndrome 5

Genes:

MONDO:0032691 - Galloway-Mowat syndrome 6

Genes:

MONDO:0032692 - Galloway-Mowat syndrome 7

Genes:

MONDO:0032693 - Galloway-Mowat syndrome 8

Genes:

MONDO:0030471 - Galloway-Mowat syndrome 9

Genes:

MONDO:0009285 - gamma-glutamyl transpeptidase deficiency

Genes:

MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

Genes:

MONDO:0007646 - Gamstorp-Wohlfart syndrome

Genes:

MONDO:0001056 - gastric cancer

Genes:

MONDO:0800030 - gastrointestinal defects and immunodeficiency syndrome 1

Genes:

MONDO:0030669 - gastrointestinal defects and immunodeficiency syndrome 2

Genes:

MONDO:0011719 - gastrointestinal stromal tumor

Genes:

MONDO:0014517 - generalized epilepsy with febrile seizures plus, type 9

Genes:

MONDO:0011640 - genitopatellar syndrome

Genes:

MONDO:0009890 - Gillessen-Kaesbach-Nishimura syndrome

Genes:

MONDO:0011693 - glaucoma, normal tension, susceptibility to

Genes:

MONDO:0024498 - glioma susceptibility 1

Genes:

MONDO:0013092 - glioma susceptibility 2

Genes:

MONDO:0018445 - global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

Genes:

MONDO:0032680 - global developmental delay with or without impaired intellectual development

Genes:

MONDO:0030995 - global developmental delay with speech and behavioral abnormalities

Genes:

MONDO:0007672 - glomuvenous malformation

Genes:

MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

Genes:

MONDO:0009947 - glutathione synthetase deficiency with 5-oxoprolinuria

Genes:

MONDO:0009284 - glutathione synthetase deficiency without 5-oxoprolinuria

Genes:

MONDO:0958179 - glycine encephalopathy 1

Genes:

MONDO:0958192 - glycine encephalopathy 2

Genes:

MONDO:0017694 - glycogen storage disease due to acid maltase deficiency, infantile onset

Genes:

MONDO:0018485 - glycogen storage disease due to acid maltase deficiency, late-onset

Genes:

MONDO:0013587 - glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Genes:

MONDO:0013047 - glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Genes:

MONDO:0013046 - glycogen storage disease due to muscle beta-enolase deficiency

Genes:

MONDO:0010392 - glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Genes:

MONDO:0009865 - glycogen storage disease due to phosphoglycerate mutase deficiency

Genes:

MONDO:0009290 - glycogen storage disease II

Genes:

MONDO:0009295 - glycogen storage disease VII

Genes:

MONDO:0013291 - glycogen storage disease XV

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

Genes:

MONDO:0060724 - glycosylphosphatidylinositol biosynthesis defect 17

Genes:

MONDO:0029140 - glycosylphosphatidylinositol biosynthesis defect 18

Genes:

MONDO:0032824 - glycosylphosphatidylinositol biosynthesis defect 21

Genes:

MONDO:0014953 - gnb5-related intellectual disability-cardiac arrhythmia syndrome

Genes:

MONDO:0007681 - goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

Genes:

MONDO:0011308 - GRACILE syndrome

Genes:

MONDO:0009305 - granulocytopenia with immunoglobulin abnormality

Genes:

MONDO:0010600 - granulomatous disease, chronic, X-linked

Genes:

MONDO:0008974 - Greenberg dysplasia

Genes:

MONDO:0008962 - Griscelli syndrome type 1

Genes:

MONDO:0014261 - growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Genes:

MONDO:0859146 - growth restriction, hypoplastic kidneys, alopecia, and distinctive facies

Genes:

MONDO:0014911 - growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Genes:

MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Genes:

MONDO:0012999 - guanidinoacetate methyltransferase deficiency

Genes:

MONDO:0008218 - Hailey-Hailey disease

Genes:

MONDO:0958071 - Hao-Fountain syndrome due to USP7 mutation

Genes:

MONDO:0030048 - harderoporphyria

Genes:

MONDO:0033258 - hearing loss, autosomal dominant 71

Genes:

MONDO:0032911 - hearing loss, autosomal dominant 75

Genes:

MONDO:0032917 - hearing loss, autosomal dominant 76

Genes:

MONDO:0030058 - hearing loss, autosomal dominant 77

Genes:

MONDO:0033668 - hearing loss, autosomal dominant 79

Genes:

MONDO:0030719 - hearing loss, autosomal dominant 82

Genes:

MONDO:0859524 - hearing loss, autosomal dominant 86

Genes:

MONDO:0859525 - hearing loss, autosomal dominant 87

Genes:

MONDO:0032740 - hearing loss, autosomal recessive 100

Genes:

MONDO:0033199 - hearing loss, autosomal recessive 107

Genes:

MONDO:0032639 - hearing loss, autosomal recessive 112

Genes:

MONDO:0032761 - hearing loss, autosomal recessive 114

Genes:

MONDO:0032762 - hearing loss, autosomal recessive 115

Genes:

MONDO:0958277 - hearing loss, autosomal recessive 123

Genes:

MONDO:0032749 - hearing loss, autosomal recessive 94

Genes:

MONDO:0010577 - hearing loss, X-linked 1

Genes:

MONDO:0011417 - hemochromatosis type 3

Genes:

MONDO:0009113 - hemolytic anemia due to diphosphoglycerate mutase deficiency

Genes:

MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

Genes:

MONDO:0019531 - hemolytic anemia due to glutathione reductase deficiency

Genes:

MONDO:0859172 - hemolytic disease of fetus and newborn, RH-induced

Genes:

MONDO:0007256 - hepatocellular carcinoma

Genes:

MONDO:0012191 - hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Genes:

MONDO:0008895 - hereditary arterial and articular multiple calcification syndrome

Genes:

MONDO:0016419 - hereditary breast carcinoma

Genes:

MONDO:0007369 - hereditary coproporphyria

Genes:

MONDO:0009238 - hereditary folate malabsorption

Genes:

MONDO:0007888 - hereditary leiomyomatosis and renal cell cancer

Genes:

MONDO:0008017 - hereditary mucoepithelial dysplasia

Genes:

MONDO:0009706 - hereditary myopathy with lactic acidosis due to ISCU deficiency

Genes:

MONDO:0003789 - hereditary papillary renal cell carcinoma

Genes:

MONDO:0009748 - hereditary sensory and autonomic neuropathy with spastic paraplegia

Genes:

MONDO:0013584 - hereditary sensory neuropathy-deafness-dementia syndrome

Genes:

MONDO:0011489 - hereditary spastic paraplegia 12

Genes:

MONDO:0011532 - hereditary spastic paraplegia 13

Genes:

MONDO:0010043 - hereditary spastic paraplegia 17

Genes:

MONDO:0012256 - hereditary spastic paraplegia 28

Genes:

MONDO:0012453 - hereditary spastic paraplegia 31

Genes:

MONDO:0012866 - hereditary spastic paraplegia 35

Genes:

MONDO:0012787 - hereditary spastic paraplegia 39

Genes:

MONDO:0008438 - hereditary spastic paraplegia 4

Genes:

MONDO:0012928 - hereditary spastic paraplegia 42

Genes:

MONDO:0014018 - hereditary spastic paraplegia 54

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

Genes:

MONDO:0014305 - hereditary spastic paraplegia 63

Genes:

MONDO:0014282 - hereditary spastic paraplegia 72

Genes:

MONDO:0014644 - hereditary spastic paraplegia 74

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

Genes:

MONDO:0012981 - hereditary spherocytosis type 4

Genes:

MONDO:0014885 - Hermansky-Pudlak syndrome 10

Genes:

MONDO:0011997 - Hermansky-Pudlak syndrome 2

Genes:

MONDO:0010606 - hernia, anterior diaphragmatic

Genes:

MONDO:0014602 - Hogue-Janssens syndrome 1

Genes:

MONDO:0009666 - holocarboxylase synthetase deficiency

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

Genes:

MONDO:0030886 - holoprosencephaly 14

Genes:

MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

Genes:

MONDO:0014605 - Houge-Janssens syndrome 2

Genes:

MONDO:0032697 - Houge-Janssens syndrome 3

Genes:

MONDO:0958005 - Hoxha-Aliu syndrome

Genes:

MONDO:0013772 - Huppke-Brendel syndrome

Genes:

MONDO:0032747 - hydatidiform mole, recurrent, 4

Genes:

MONDO:0859376 - hydrocephalus, congenital, 5, susceptibility to

Genes:

MONDO:0014869 - hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Genes:

MONDO:0013535 - hydroxyacyl glutathione hydrolase deficiency

Genes:

MONDO:0011971 - hyper-IgM syndrome type 5

Genes:

MONDO:0009377 - hyperammonemia due to N-acetylglutamate synthase deficiency

Genes:

MONDO:0011369 - hypercholesterolemia, autosomal dominant, 3

Genes:

MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Genes:

MONDO:0044330 - hyperekplexia 4

Genes:

MONDO:0007677 - hyperglycinuria

Genes:

MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

Genes:

MONDO:0859362 - hyperinsulinemic hypoglycemia, familial, 8

Genes:

MONDO:0011236 - hyperinsulinism due to glucokinase deficiency

Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

Genes:

MONDO:0009388 - hyperlysinemia

Genes:

MONDO:0859302 - hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2

Genes:

MONDO:0013404 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Genes:

MONDO:0007767 - hyperparathyroidism 1

Genes:

MONDO:0007768 - hyperparathyroidism 2 with jaw tumors

Genes:

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

Genes:

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

Genes:

MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

Genes:

MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

Genes:

MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

Genes:

MONDO:0009400 - hyperprolinemia type 1

Genes:

MONDO:0009401 - hyperprolinemia type 2

Genes:

MONDO:0957268 - hypersulfaturia

Genes:

MONDO:0007785 - hyperthyroxinemia, dystransthyretinemic

Genes:

MONDO:0005045 - hypertrophic cardiomyopathy

Genes:

MONDO:0008647 - hypertrophic cardiomyopathy 1

Genes:

MONDO:0012112 - hypertrophic cardiomyopathy 10

Genes:

MONDO:0012799 - hypertrophic cardiomyopathy 11

Genes:

MONDO:0013197 - hypertrophic cardiomyopathy 14

Genes:

MONDO:0010946 - hypertrophic cardiomyopathy 6

Genes:

MONDO:0012111 - hypertrophic cardiomyopathy 8

Genes:

MONDO:0013458 - hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Genes:

MONDO:0014891 - hyperuricemic nephropathy, familial juvenile type 4

Genes:

MONDO:0100058 - hypervalinemia and hyperleucine-isoleucinemia

Genes:

MONDO:0011174 - hyperzincemia with functional zinc depletion

Genes:

MONDO:0014131 - hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Genes:

MONDO:0009416 - hypoinsulinemic hypoglycemia and body hemihypertrophy

Genes:

MONDO:0859328 - hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Genes:

MONDO:0014632 - hypomyelinating leukodystrophy 10

Genes:

MONDO:0014666 - hypomyelinating leukodystrophy 11

Genes:

MONDO:0014732 - hypomyelinating leukodystrophy 12

Genes:

MONDO:0014813 - hypomyelinating leukodystrophy 13

Genes:

MONDO:0009843 - hypomyelinating leukodystrophy 3

Genes:

MONDO:0012824 - hypomyelinating leukodystrophy 4

Genes:

MONDO:0012905 - hypomyelinating leukodystrophy 6

Genes:

MONDO:0013722 - hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

Genes:

MONDO:0014115 - hypomyelination with brain stem and spinal cord involvement and leg spasticity

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

Genes:

MONDO:0010358 - hypophosphatemic rickets, X-linked recessive

Genes:

MONDO:0032805 - hypopigmentation, organomegaly, and delayed myelination and development

Genes:

MONDO:0026731 - hypothyroidism, congenital, nongoitrous, 8

Genes:

MONDO:0024567 - hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Genes:

MONDO:0014027 - hypotrichosis 11

Genes:

MONDO:0014384 - hypotrichosis 12

Genes:

MONDO:0032649 - hypotrichosis 14

Genes:

MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

Genes:

MONDO:0009440 - ichthyosiform erythroderma, corneal involvement, and hearing loss

Genes:

MONDO:0032798 - ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features

Genes:

MONDO:0100221 - IFAP syndrome 2

Genes:

MONDO:0032916 - Imagawa-Matsumoto syndrome

Genes:

MONDO:0009448 - iminoglycinuria

Genes:

MONDO:0957790 - immune dysregulation, autoimmunity, and autoinflammation

Genes:

MONDO:0030813 - immunodeficiency 101 (varicella zoster virus-specific)

Genes:

MONDO:0957920 - immunodeficiency 113 with autoimmunity and autoinflammation

Genes:

MONDO:0958030 - immunodeficiency 118

Genes:

MONDO:0970994 - immunodeficiency 120

Genes:

MONDO:0971151 - immunodeficiency 122

Genes:

MONDO:0975834 - immunodeficiency 128

Genes:

MONDO:0014353 - immunodeficiency 23

Genes:

MONDO:0010504 - immunodeficiency 47

Genes:

MONDO:0030898 - immunodeficiency 76

Genes:

MONDO:0030971 - immunodeficiency 78 with autoimmunity and developmental delay

Genes:

MONDO:0030266 - immunodeficiency 80 with or without congenital cardiomyopathy

Genes:

MONDO:0030428 - immunodeficiency 85 and autoimmunity

Genes:

MONDO:0030491 - immunodeficiency 91 and hyperinflammation

Genes:

MONDO:0030528 - immunodeficiency 93 and hypertrophic cardiomyopathy

Genes:

MONDO:0030693 - immunodeficiency 96

Genes:

MONDO:0030798 - immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

Genes:

MONDO:0958013 - immunodeficiency, common variable, 15

Genes:

MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Genes:

MONDO:0013802 - infantile cerebellar-retinal degeneration

Genes:

MONDO:0013351 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Genes:

MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Genes:

MONDO:1010169 - infantile hypophosphatasia

Genes:

MONDO:0024568 - infantile liver failure syndrome 1

Genes:

MONDO:0014659 - infantile liver failure syndrome 2

Genes:

MONDO:0032844 - infantile liver failure syndrome 3

Genes:

MONDO:0010532 - infantile-onset X-linked spinal muscular atrophy

Genes:

MONDO:0012610 - inflammatory bowel disease 10

Genes:

MONDO:0012831 - inflammatory bowel disease 13

Genes:

MONDO:0859355 - inflammatory poikiloderma with hair abnormalities and acral keratoses

Genes:

MONDO:0013461 - inosine triphosphatase deficiency

Genes:

MONDO:0032823 - intellectual developmental disorder 60 with seizures

Genes:

MONDO:0032485 - intellectual developmental disorder 61

Genes:

MONDO:0015022 - intellectual developmental disorder with dysmorphic facies and ptosis

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

Genes:

MONDO:0033572 - intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

Genes:

MONDO:0032897 - intellectual developmental disorder with hypotonia and behavioral abnormalities

Genes:

MONDO:0859197 - intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Genes:

MONDO:0032851 - intellectual developmental disorder with impaired language and dysmorphic facies

Genes:

MONDO:0032568 - intellectual developmental disorder with macrocephaly, seizures, and speech delay

Genes:

MONDO:0032832 - intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

Genes:

MONDO:0976124 - intellectual developmental disorder with polymicrogyria and seizures

Genes:

MONDO:0033559 - intellectual developmental disorder with seizures and language delay

Genes:

MONDO:0032770 - intellectual developmental disorder with severe speech and ambulation defects

Genes:

MONDO:0032759 - intellectual developmental disorder with short stature and variable skeletal anomalies

Genes:

MONDO:0030849 - intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Genes:

MONDO:0032864 - intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Genes:

MONDO:0023657 - intellectual developmental disorder, autosomal dominant 65

Genes:

MONDO:0030891 - intellectual developmental disorder, autosomal dominant 66

Genes:

MONDO:0029465 - intellectual developmental disorder, autosomal dominant 69

Genes:

MONDO:0859333 - intellectual developmental disorder, autosomal dominant 70

Genes:

MONDO:0957397 - intellectual developmental disorder, autosomal dominant 72

Genes:

MONDO:0957536 - intellectual developmental disorder, autosomal dominant 73

Genes:

MONDO:0958203 - intellectual developmental disorder, autosomal dominant 74

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

Genes:

MONDO:0026723 - intellectual developmental disorder, X-linked 108

Genes:

MONDO:0958200 - intellectual developmental disorder, X-linked 113

Genes:

MONDO:0975828 - intellectual developmental disorder, X-linked 114

Genes:

MONDO:0013805 - intellectual disability, autosomal dominant 13

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

Genes:

MONDO:0014580 - intellectual disability, autosomal dominant 33

Genes:

MONDO:0014617 - intellectual disability, autosomal dominant 38

Genes:

MONDO:0014842 - intellectual disability, autosomal dominant 41

Genes:

MONDO:0014855 - intellectual disability, autosomal dominant 42

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

Genes:

MONDO:0030916 - intellectual disability, autosomal dominant 50

Genes:

MONDO:0030917 - intellectual disability, autosomal dominant 51

Genes:

MONDO:0030921 - intellectual disability, autosomal dominant 55, with seizures

Genes:

MONDO:0030922 - intellectual disability, autosomal dominant 56

Genes:

MONDO:0020847 - intellectual disability, autosomal dominant 58

Genes:

MONDO:0013656 - intellectual disability, autosomal dominant 9

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

Genes:

MONDO:0007634 - intellectual disability, FRA12A type

Genes:

MONDO:0010497 - intellectual disability, X-linked 102

Genes:

MONDO:0049222 - intellectual disability, X-linked 107

Genes:

MONDO:0010447 - intellectual disability, X-linked 19

Genes:

MONDO:0010361 - intellectual disability, X-linked 30

Genes:

MONDO:0010451 - intellectual disability, X-linked 41

Genes:

MONDO:0010250 - intellectual disability, X-linked 49

Genes:

MONDO:0010313 - intellectual disability, X-linked 63

Genes:

MONDO:0010660 - intellectual disability, X-linked 9

Genes:

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

Genes:

MONDO:0030908 - intellectual disability, X-linked, syndromic, 35

Genes:

MONDO:0030909 - intellectual disability, X-linked, syndromic, Houge type

Genes:

MONDO:0014336 - intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

Genes:

MONDO:0014119 - intellectual disability-strabismus syndrome

Genes:

MONDO:0032684 - intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Genes:

MONDO:0008939 - isolated cerebellar hypoplasia/agenesis

Genes:

MONDO:0007619 - isolated congenital adermatoglyphia

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

Genes:

MONDO:0014050 - isolated microphthalmia 8

Genes:

MONDO:0009007 - Jalili syndrome

Genes:

MONDO:0009622 - Jawad syndrome

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

Genes:

MONDO:0010465 - Kabuki syndrome 2

Genes:

MONDO:0012991 - Kahrizi syndrome

Genes:

MONDO:0975795 - Kariminejad neurodevelopmental syndrome

Genes:

MONDO:0013898 - karyomegalic interstitial nephritis

Genes:

MONDO:0030878 - Kaya-Barakat-Masson syndrome

Genes:

MONDO:0054771 - keratoconus 9

Genes:

MONDO:0859278 - keratoderma-ichthyosis-deafness syndrome, autosomal recessive

Genes:

MONDO:0011169 - keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Genes:

MONDO:0851095 - KINSSHIP syndrome

Genes:

MONDO:0100119 - Knobloch syndrome 2

Genes:

MONDO:0011706 - Kufor-Rakeb syndrome

Genes:

MONDO:0006065 - lactose intolerance adult type

Genes:

MONDO:0014957 - language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia

Genes:

MONDO:0044792 - large congenital melanocytic nevus

Genes:

MONDO:0008199 - late-onset Parkinson disease

Genes:

MONDO:0011816 - lathosterolosis

Genes:

MONDO:0009514 - Laurence-Moon syndrome

Genes:

MONDO:0013454 - Leber congenital amaurosis 11

Genes:

MONDO:0012990 - Leber congenital amaurosis 13

Genes:

MONDO:0032794 - Leber congenital amaurosis 19

Genes:

MONDO:0012056 - Leber congenital amaurosis 9

Genes:

MONDO:0060650 - Leber congenital amaurosis with early-onset deafness

Genes:

MONDO:0010298 - Lesch-Nyhan syndrome

Genes:

MONDO:0012750 - lethal arthrogryposis-anterior horn cell disease syndrome

Genes:

MONDO:0009670 - lethal congenital contracture syndrome 1

Genes:

MONDO:0012656 - lethal congenital contracture syndrome 3

Genes:

MONDO:0009867 - lethal congenital glycogen storage disease of heart

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Genes:

MONDO:0014976 - lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Genes:

MONDO:0013740 - lethal occipital encephalocele-skeletal dysplasia syndrome

Genes:

MONDO:0013108 - leukemia, acute lymphocytic, susceptibility to, 1

Genes:

MONDO:0009953 - leukocyte adhesion deficiency type II

Genes:

MONDO:0859246 - leukodystrophy, childhood-onset, remitting

Genes:

MONDO:0054782 - leukodystrophy, hypomyelinating, 15

Genes:

MONDO:0054791 - leukodystrophy, hypomyelinating, 16

Genes:

MONDO:0032730 - leukodystrophy, hypomyelinating, 18

Genes:

MONDO:0032871 - leukodystrophy, hypomyelinating, 19, transient infantile

Genes:

MONDO:0030263 - leukodystrophy, hypomyelinating, 21

Genes:

MONDO:0958018 - leukodystrophy, hypomyelinating, 27

Genes:

MONDO:0011897 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Genes:

MONDO:0012622 - leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Genes:

MONDO:0020507 - leukoencephalopathy with vanishing white matter 1

Genes:

MONDO:0957870 - leukoencephalopathy with vanishing white matter 2

Genes:

MONDO:0957871 - leukoencephalopathy with vanishing white matter 3

Genes:

MONDO:0957872 - leukoencephalopathy with vanishing white matter 4

Genes:

MONDO:0957873 - leukoencephalopathy with vanishing white matter 5

Genes:

MONDO:0032716 - leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Genes:

MONDO:0030035 - leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

Genes:

MONDO:0030634 - leukoencephalopathy, hereditary diffuse, with spheroids 2

Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

Genes:

MONDO:0030893 - leukoencephalopathy, progressive, infantile-onset, with or without deafness

Genes:

MONDO:0014387 - leukoencephalopathy, progressive, with ovarian failure

Genes:

MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Genes:

MONDO:0030963 - Li-Campeau syndrome

Genes:

MONDO:0033547 - Li-Ghorbani-Weisz-Hubshman syndrome

Genes:

MONDO:0030045 - Liberfarb syndrome

Genes:

MONDO:0008097 - linear nevus sebaceous syndrome

Genes:

MONDO:0024552 - linear skin defects with multiple congenital anomalies 1

Genes:

MONDO:0958023 - lipodystrophy, congenital generalized, type 5

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

Genes:

MONDO:0014576 - lipoyl transferase 1 deficiency

Genes:

MONDO:0014596 - lissencephaly 7 with cerebellar hypoplasia

Genes:

MONDO:0012703 - lissencephaly due to TUBA1A mutation

Genes:

MONDO:0014548 - long QT syndrome 14

Genes:

MONDO:0014550 - long QT syndrome 15

Genes:

MONDO:0032915 - long QT syndrome 16

Genes:

MONDO:0013367 - long QT syndrome 2

Genes:

MONDO:0957960 - Long-Olsen-Distelmaier syndrome

Genes:

MONDO:0014025 - lower motor neuron syndrome with late-adult onset

Genes:

MONDO:0008903 - lung cancer

Genes:

MONDO:0014984 - lung disease, immunodeficiency, and chromosome breakage syndrome;

Genes:

MONDO:0014791 - Luscan-Lumish syndrome

Genes:

MONDO:0011705 - lymphangioleiomyomatosis

Genes:

MONDO:0011508 - lymphoma, non-Hodgkin, familial

Genes:

MONDO:0005835 - Lynch syndrome

Genes:

MONDO:0007356 - Lynch syndrome 1

Genes:

MONDO:0012249 - Lynch syndrome 2

Genes:

MONDO:0013699 - Lynch syndrome 4

Genes:

MONDO:0013710 - Lynch syndrome 5

Genes:

MONDO:0011537 - macrocephaly-autism syndrome

Genes:

MONDO:0014716 - macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Genes:

MONDO:0015912 - macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Genes:

MONDO:0800047 - macrothrombocytopenia, isolated, 1, autosomal dominant

Genes:

MONDO:0030827 - macrothrombocytopenia, isolated, 2, autosomal dominant

Genes:

MONDO:0014757 - macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Genes:

MONDO:0012316 - Majeed syndrome

Genes:

MONDO:0021024 - malaria, susceptibility to

Genes:

MONDO:0014157 - mandibular hypoplasia-deafness-progeroid syndrome

Genes:

MONDO:0030880 - mandibuloacral dysplasia progeroid syndrome

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

Genes:

MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

Genes:

MONDO:0014057 - maple syrup urine disease, mild variant

Genes:

MONDO:0859147 - Marbach-Rustad progeroid syndrome

Genes:

MONDO:0009567 - Marinesco-Sjogren syndrome

Genes:

MONDO:0014674 - maturity-onset diabetes of the young type 14

Genes:

MONDO:0007453 - maturity-onset diabetes of the young type 2

Genes:

MONDO:0012251 - MEDNIK syndrome

Genes:

MONDO:0007959 - medulloblastoma

Genes:

MONDO:0032648 - mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Genes:

MONDO:0011246 - megaconial type congenital muscular dystrophy

Genes:

MONDO:0025708 - megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Genes:

MONDO:0030296 - megacystis-microcolon-intestinal hypoperistalsis syndrome 4

Genes:

MONDO:0030329 - megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Genes:

MONDO:0010258 - MEHMO syndrome

Genes:

MONDO:0009143 - Meier-Gorlin syndrome 1

Genes:

MONDO:0013428 - Meier-Gorlin syndrome 2

Genes:

MONDO:0013430 - Meier-Gorlin syndrome 3

Genes:

MONDO:0013431 - Meier-Gorlin syndrome 4

Genes:

MONDO:0013432 - Meier-Gorlin syndrome 5

Genes:

MONDO:0014894 - Meier-Gorlin syndrome 7

Genes:

MONDO:0033046 - Meier-Gorlin syndrome 8

Genes:

MONDO:0013510 - melanoma, cutaneous malignant, susceptibility to, 6

Genes:

MONDO:0014056 - melanoma, cutaneous malignant, susceptibility to, 9

Genes:

MONDO:0007970 - melorheostosis

Genes:

MONDO:0010651 - Menkes disease

Genes:

MONDO:0032736 - metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression

Genes:

MONDO:0009598 - metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Genes:

MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

Genes:

MONDO:0009606 - methemoglobinemia due to deficiency of methemoglobin reductase

Genes:

MONDO:0009605 - methemoglobinemia type 4

Genes:

MONDO:0009607 - methionine adenosyltransferase deficiency

Genes:

MONDO:0009354 - methylcobalamin deficiency type cblE

Genes:

MONDO:0009609 - methylcobalamin deficiency type cblG

Genes:

MONDO:0010184 - methylmalonic aciduria and homocystinuria type cblC

Genes:

MONDO:0012481 - mevalonic aciduria

Genes:

MONDO:0019407 - microcephalic osteodysplastic dysplasia, Saul-Wilson type

Genes:

MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

Genes:

MONDO:0014031 - microcephalic primordial dwarfism, Alazami type

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

Genes:

MONDO:0054716 - microcephaly 19, primary, autosomal recessive

Genes:

MONDO:0054761 - microcephaly 20, primary, autosomal recessive

Genes:

MONDO:0054804 - microcephaly 21, primary, autosomal recessive

Genes:

MONDO:0054806 - microcephaly 23, primary, autosomal recessive

Genes:

MONDO:0032583 - microcephaly 24, primary, autosomal recessive

Genes:

MONDO:0030339 - microcephaly 28, primary, autosomal recessive

Genes:

MONDO:0031060 - microcephaly 29, primary, autosomal recessive

Genes:

MONDO:0011488 - microcephaly 3, primary, autosomal recessive

Genes:

MONDO:0859342 - microcephaly 30, primary, autosomal recessive

Genes:

MONDO:0011437 - microcephaly 4, primary, autosomal recessive

Genes:

MONDO:0009624 - microcephaly and chorioretinopathy 1

Genes:

MONDO:0014592 - microcephaly and chorioretinopathy 3

Genes:

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Genes:

MONDO:0030047 - microcephaly, developmental delay, and brittle hair syndrome

Genes:

MONDO:0031481 - microcephaly, epilepsy, and diabetes syndrome 1

Genes:

MONDO:0025690 - microcephaly, epilepsy, and diabetes syndrome 2

Genes:

MONDO:0020647 - microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

Genes:

MONDO:0032690 - microcephaly, growth deficiency, seizures, and brain malformations

Genes:

MONDO:0020628 - microcephaly, growth restriction, and increased sister chromatid exchange 2

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

Genes:

MONDO:0000208 - microcephaly, short stature, and impaired glucose metabolism 1

Genes:

MONDO:0013659 - microcephaly-capillary malformation syndrome

Genes:

MONDO:0014793 - microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Genes:

MONDO:0014698 - microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Genes:

MONDO:0014273 - microcephaly-thin corpus callosum-intellectual disability syndrome

Genes:

MONDO:0033644 - microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1

Genes:

MONDO:0008787 - microcytic anemia with liver iron overload

Genes:

MONDO:0013783 - microphthalmia, isolated, with coloboma 7

Genes:

MONDO:0010671 - microphthalmia, syndromic 1

Genes:

MONDO:0975809 - microphthalmia/coloboma 13

Genes:

MONDO:0012970 - microvascular complications of diabetes, susceptibility to, 6

Genes:

MONDO:0009635 - microvillus inclusion disease

Genes:

MONDO:0010516 - midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Genes:

MONDO:0013790 - mirror movements 2

Genes:

MONDO:0010159 - mismatch repair cancer syndrome 1

Genes:

MONDO:0030840 - mismatch repair cancer syndrome 2

Genes:

MONDO:0030841 - mismatch repair cancer syndrome 3

Genes:

MONDO:0030843 - mismatch repair cancer syndrome 4

Genes:

MONDO:0030935 - mitochondrial complex 2 deficiency, nuclear type 2

Genes:

MONDO:0030937 - mitochondrial complex 2 deficiency, nuclear type 3

Genes:

MONDO:0030974 - mitochondrial complex 2 deficiency, nuclear type 4

Genes:

MONDO:0032869 - mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Genes:

MONDO:0032617 - mitochondrial complex I deficiency, nuclear type 11

Genes:

MONDO:0032630 - mitochondrial complex I deficiency, nuclear type 26

Genes:

MONDO:0032631 - mitochondrial complex I deficiency, nuclear type 27

Genes:

MONDO:0032609 - mitochondrial complex I deficiency, nuclear type 4

Genes:

MONDO:0032612 - mitochondrial complex I deficiency, nuclear type 7

Genes:

MONDO:0100294 - mitochondrial complex II deficiency, nuclear type 1

Genes:

MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

Genes:

MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

Genes:

MONDO:0014064 - mitochondrial complex III deficiency nuclear type 3

Genes:

MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

Genes:

MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

Genes:

MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

Genes:

MONDO:0014356 - mitochondrial complex III deficiency nuclear type 7

Genes:

MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

Genes:

MONDO:0014496 - mitochondrial complex III deficiency nuclear type 9

Genes:

MONDO:0032909 - mitochondrial complex III deficiency, nuclear type 10

Genes:

MONDO:0859321 - mitochondrial complex III deficiency, nuclear type 11

Genes:

MONDO:0700250 - mitochondrial complex IV deficiency, nuclear type 1

Genes:

MONDO:0033639 - mitochondrial complex IV deficiency, nuclear type 10

Genes:

MONDO:0033645 - mitochondrial complex IV deficiency, nuclear type 11

Genes:

MONDO:0033649 - mitochondrial complex IV deficiency, nuclear type 14

Genes:

MONDO:0033651 - mitochondrial complex IV deficiency, nuclear type 16

Genes:

MONDO:0033653 - mitochondrial complex IV deficiency, nuclear type 18

Genes:

MONDO:0033654 - mitochondrial complex IV deficiency, nuclear type 19

Genes:

MONDO:0033655 - mitochondrial complex IV deficiency, nuclear type 20

Genes:

MONDO:0033656 - mitochondrial complex IV deficiency, nuclear type 21

Genes:

MONDO:0859160 - mitochondrial complex IV deficiency, nuclear type 22

Genes:

MONDO:0859520 - mitochondrial complex IV deficiency, nuclear type 23

Genes:

MONDO:0033635 - mitochondrial complex IV deficiency, nuclear type 3

Genes:

MONDO:0033636 - mitochondrial complex IV deficiency, nuclear type 4

Genes:

MONDO:0033637 - mitochondrial complex IV deficiency, nuclear type 7

Genes:

MONDO:0033638 - mitochondrial complex IV deficiency, nuclear type 8

Genes:

MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Genes:

MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Genes:

MONDO:0957254 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

Genes:

MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

Genes:

MONDO:0020858 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

Genes:

MONDO:0957255 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

Genes:

MONDO:0044970 - mitochondrial disease

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

Genes:

MONDO:0014959 - mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Genes:

MONDO:0014175 - mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Genes:

MONDO:0014820 - mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Genes:

MONDO:0014943 - mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Genes:

MONDO:0032815 - mitochondrial DNA depletion syndrome 17

Genes:

MONDO:0032932 - mitochondrial DNA depletion syndrome 18

Genes:

MONDO:0976132 - mitochondrial dna depletion syndrome 21

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

Genes:

MONDO:0009747 - mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

Genes:

MONDO:0009504 - mitochondrial DNA depletion syndrome 9

Genes:

MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Genes:

MONDO:0013865 - mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Genes:

MONDO:0020714 - mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

Genes:

MONDO:0044714 - mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Genes:

MONDO:0013877 - mitochondrial pyruvate carrier deficiency

Genes:

MONDO:0011629 - MOGS-congenital disorder of glycosylation

Genes:

MONDO:0015967 - monogenic diabetes

Genes:

MONDO:0975848 - Morimoto-Ryu-Malicdan neuromuscular syndrome

Genes:

MONDO:0009759 - mosaic variegated aneuploidy syndrome 1

Genes:

MONDO:0013582 - mosaic variegated aneuploidy syndrome 2

Genes:

MONDO:0859346 - mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

Genes:

MONDO:0013542 - Moyamoya disease 5

Genes:

MONDO:0011257 - MPI-congenital disorder of glycosylation

Genes:

MONDO:0001586 - mucopolysaccharidosis type 1

Genes:

MONDO:0009661 - mucopolysaccharidosis type 6

Genes:

MONDO:0015012 - mucopolysaccharidosis-plus syndrome

Genes:

MONDO:0008018 - Muir-Torre syndrome

Genes:

MONDO:0026722 - Mullegama-Klein-Martinez syndrome

Genes:

MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

Genes:

MONDO:0020738 - multiple benign circumferential skin creases on limbs 1

Genes:

MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

Genes:

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

Genes:

MONDO:0009189 - multiple epiphyseal dysplasia type 4

Genes:

MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

Genes:

MONDO:0975806 - multiple mitochondrial dysfunctions syndrome 10

Genes:

MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

Genes:

MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

Genes:

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

Genes:

MONDO:0033282 - multiple mitochondrial dysfunctions syndrome 5

Genes:

MONDO:0054785 - multiple mitochondrial dysfunctions syndrome 6

Genes:

MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

Genes:

MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b

Genes:

MONDO:0007908 - multiple symmetric lipomatosis

Genes:

MONDO:0020715 - multiple system atrophy 1, susceptibility to

Genes:

MONDO:0013452 - multisystemic smooth muscle dysfunction syndrome

Genes:

MONDO:0012657 - Mungan syndrome

Genes:

MONDO:0859336 - muscular dystrophy, congenital, with or without seizures

Genes:

MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

Genes:

MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

Genes:

MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Genes:

MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Genes:

MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Genes:

MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

Genes:

MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Genes:

MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Genes:

MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Genes:

MONDO:0032596 - myasthenic syndrome, congenital, 23, presynaptic

Genes:

MONDO:0000070 - Mycobacterium tuberculosis, susceptibility

Genes:

MONDO:0018881 - myelodysplastic syndrome

Genes:

MONDO:0007925 - myelodysplastic syndrome associated with isolated del(5q)

Genes:

MONDO:0975797 - myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities

Genes:

MONDO:0008050 - MYH7-related skeletal myopathy

Genes:

MONDO:0012039 - myocardial infarction, susceptibility to

Genes:

MONDO:0030927 - myofibrillar myopathy 11

Genes:

MONDO:0012130 - myofibrillar myopathy 2

Genes:

MONDO:0009992 - myoglobinuria, acute recurrent, autosomal recessive

Genes:

MONDO:0014220 - myopathy due to myoadenylate deaminase deficiency

Genes:

MONDO:0009703 - myopathy with abnormal lipid metabolism

Genes:

MONDO:0009709 - myopathy, centronuclear, 2

Genes:

MONDO:0032852 - myopathy, congenital, with structured cores and z-line abnormalities

Genes:

MONDO:0014877 - myopathy, distal, 5

Genes:

MONDO:0032853 - myopathy, distal, 6, adult-onset, autosomal dominant

Genes:

MONDO:0033619 - myopathy, epilepsy, and progressive cerebral atrophy

Genes:

MONDO:0024553 - myopathy, lactic acidosis, and sideroblastic anemia 1

Genes:

MONDO:0013307 - myopathy, lactic acidosis, and sideroblastic anemia 2

Genes:

MONDO:0859168 - myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Genes:

MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles

Genes:

MONDO:0009708 - myopathy, myosin storage, autosomal recessive

Genes:

MONDO:0011577 - myopathy, proximal, and ophthalmoplegia

Genes:

MONDO:0032941 - myopia 27

Genes:

MONDO:0012154 - myopia 6

Genes:

MONDO:0011266 - myotonic dystrophy type 2

Genes:

MONDO:0034121 - NAD(P)HX dehydratase deficiency

Genes:

MONDO:0007943 - Nager acrofacial dysostosis

Genes:

MONDO:0018958 - nemaline myopathy

Genes:

MONDO:0009725 - nemaline myopathy 2

Genes:

MONDO:0012538 - nemaline myopathy 7

Genes:

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Genes:

MONDO:0020722 - nephrolithiasis susceptibility caused by SLC26A1

Genes:

MONDO:0010687 - nephrolithiasis, X-linked recessive, with renal failure

Genes:

MONDO:0013163 - nephronophthisis-like nephropathy 1

Genes:

MONDO:0014752 - nephrotic syndrome, type 11

Genes:

MONDO:0014817 - nephrotic syndrome, type 12

Genes:

MONDO:0014818 - nephrotic syndrome, type 13

Genes:

MONDO:0032580 - nephrotic syndrome, type 17

Genes:

MONDO:0032581 - nephrotic syndrome, type 18

Genes:

MONDO:0032582 - nephrotic syndrome, type 19

Genes:

MONDO:0026726 - nephrotic syndrome, type 20

Genes:

MONDO:0014099 - nephrotic syndrome, type 8

Genes:

MONDO:0014257 - nephrotic syndrome, type 9

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

Genes:

MONDO:0011120 - neural tube defects, folate-sensitive

Genes:

MONDO:0009578 - neurocutaneous melanocytosis

Genes:

MONDO:0957211 - neurodegeneration and seizures due to copper transport defect

Genes:

MONDO:0031006 - neurodegeneration with ataxia and late-onset optic atrophy

Genes:

MONDO:0010476 - neurodegeneration with brain iron accumulation 5

Genes:

MONDO:0014290 - neurodegeneration with brain iron accumulation 6

Genes:

MONDO:0957225 - neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

Genes:

MONDO:0030028 - neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

Genes:

MONDO:0957985 - neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

Genes:

MONDO:0030947 - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Genes:

MONDO:0859304 - neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction

Genes:

MONDO:0859241 - neurodegeneration, childhood-onset, with progressive microcephaly

Genes:

MONDO:0976236 - neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment

Genes:

MONDO:0030046 - neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity

Genes:

MONDO:0968947 - neurodevelopmental disorder plus optic atrophy

Genes:

MONDO:0033642 - neurodevelopmental disorder with alopecia and brain abnormalities

Genes:

MONDO:0060624 - neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Genes:

MONDO:0032888 - neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies

Genes:

MONDO:0030866 - neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Genes:

MONDO:0032790 - neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Genes:

MONDO:0859141 - neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

Genes:

MONDO:0859361 - neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

Genes:

MONDO:0859179 - neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Genes:

MONDO:0031011 - neurodevelopmental disorder with dysmorphic facies and variable seizures

Genes:

MONDO:0030852 - neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

Genes:

MONDO:0859258 - neurodevelopmental disorder with dystonia and seizures

Genes:

MONDO:0859265 - neurodevelopmental disorder with epilepsy and brain atrophy

Genes:

MONDO:0060761 - neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum

Genes:

MONDO:0032894 - neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

Genes:

MONDO:0958240 - neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

Genes:

MONDO:0859187 - neurodevelopmental disorder with hypotonia and brain abnormalities

Genes:

MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Genes:

MONDO:0958278 - neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Genes:

MONDO:0859185 - neurodevelopmental disorder with hypotonia and dysmorphic facies

Genes:

MONDO:0957541 - neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

Genes:

MONDO:0032829 - neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Genes:

MONDO:0859347 - neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

Genes:

MONDO:0971043 - neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities

Genes:

MONDO:0030025 - neurodevelopmental disorder with hypotonia, microcephaly, and seizures

Genes:

MONDO:0976131 - neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

Genes:

MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Genes:

MONDO:0957588 - neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Genes:

MONDO:0859162 - neurodevelopmental disorder with infantile epileptic spasms

Genes:

MONDO:0060491 - neurodevelopmental disorder with involuntary movements

Genes:

MONDO:0968945 - neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

Genes:

MONDO:0957531 - neurodevelopmental disorder with microcephaly and movement abnormalities

Genes:

MONDO:0957218 - neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

Genes:

MONDO:0032779 - neurodevelopmental disorder with microcephaly and structural brain anomalies

Genes:

MONDO:0060577 - neurodevelopmental disorder with microcephaly, ataxia, and seizures

Genes:

MONDO:0859293 - neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment

Genes:

MONDO:0060640 - neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Genes:

MONDO:0032705 - neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Genes:

MONDO:0859287 - neurodevelopmental disorder with microcephaly, hypotonia, and absent language

Genes:

MONDO:0060490 - neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Genes:

MONDO:0859250 - neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

Genes:

MONDO:0100348 - neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

Genes:

MONDO:0030837 - neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

Genes:

MONDO:0859282 - neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures

Genes:

MONDO:0033662 - neurodevelopmental disorder with microcephaly, seizures, and brain atrophy

Genes:

MONDO:0060621 - neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Genes:

MONDO:0859285 - neurodevelopmental disorder with microcephaly, short stature, and speech delay

Genes:

MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Genes:

MONDO:0030994 - neurodevelopmental disorder with or without autism or seizures

Genes:

MONDO:0859377 - neurodevelopmental disorder with poor growth and behavioral abnormalities

Genes:

MONDO:0976130 - neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies

Genes:

MONDO:0976265 - neurodevelopmental disorder with poor growth, seizures, and brain abnormalities

Genes:

MONDO:0859296 - neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Genes:

MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Genes:

MONDO:0859188 - neurodevelopmental disorder with seizures and brain abnormalities

Genes:

MONDO:0033658 - neurodevelopmental disorder with seizures and brain atrophy

Genes:

MONDO:0032775 - neurodevelopmental disorder with seizures and speech and walking impairment

Genes:

MONDO:0859266 - neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

Genes:

MONDO:0859295 - neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

Genes:

MONDO:0060704 - neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Genes:

MONDO:0032849 - neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

Genes:

MONDO:0859137 - neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia

Genes:

MONDO:0859275 - neurodevelopmental disorder with spasticity, seizures, and brain abnormalities

Genes:

MONDO:0859272 - neurodevelopmental disorder with speech delay and variable ocular anomalies

Genes:

MONDO:0033630 - neurodevelopmental disorder with speech impairment and dysmorphic facies

Genes:

MONDO:0976125 - neurodevelopmental disorder with speech or visual impairment and brain hypomyelination

Genes:

MONDO:0976263 - neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language

Genes:

MONDO:0975877 - neurodevelopmental disorder with variable familial hypercholanemia

Genes:

MONDO:0032807 - neurodevelopmental disorder with visual defects and brain anomalies

Genes:

MONDO:0060578 - neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

Genes:

MONDO:0030057 - neurodevelopmental, jaw, eye, and digital syndrome

Genes:

MONDO:8000012 - neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

Genes:

MONDO:0030375 - neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Genes:

MONDO:0032890 - neuromuscular disease and ocular or auditory anomalies with or without seizures

Genes:

MONDO:0009744 - neuronal ceroid lipofuscinosis 1

Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

Genes:

MONDO:0971150 - neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

Genes:

MONDO:0030055 - neuronopathy, distal hereditary motor, autosomal recessive 8

Genes:

MONDO:0957874 - neuronopathy, distal hereditary motor, autosomal recessive 9

Genes:

MONDO:0008025 - neuronopathy, distal hereditary motor, type 2A

Genes:

MONDO:0012080 - neuronopathy, distal hereditary motor, type 2B

Genes:

MONDO:0013243 - neuronopathy, distal hereditary motor, type 2C

Genes:

MONDO:0015353 - neuronopathy, distal hereditary motor, type 5A

Genes:

MONDO:0013884 - neuronopathy, distal hereditary motor, type 5B

Genes:

MONDO:0030860 - neuronopathy, distal hereditary motor, type 5C

Genes:

MONDO:0011879 - neuronopathy, distal hereditary motor, type 7B

Genes:

MONDO:0060585 - neuronopathy, distal hereditary motor, type 9

Genes:

MONDO:0032850 - neurooculocardiogenitourinary syndrome

Genes:

MONDO:0011002 - neuropathy, hereditary motor and sensory, type 6A

Genes:

MONDO:0032792 - neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

Genes:

MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A

Genes:

MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

Genes:

MONDO:0013634 - neuropathy, hereditary sensory, type 2C

Genes:

MONDO:0957809 - neutropenia, severe congenital, 10, autosomal recessive

Genes:

MONDO:0958017 - neutropenia, severe congenital, 11, autosomal dominant

Genes:

MONDO:0032899 - neutropenia, severe congenital, 8, autosomal dominant

Genes:

MONDO:0008093 - nevus, epidermal

Genes:

MONDO:0009756 - Niemann-Pick disease type A

Genes:

MONDO:0011871 - Niemann-Pick disease type B

Genes:

MONDO:0011873 - Niemann-Pick disease, type C2

Genes:

MONDO:0009623 - Nijmegen breakage syndrome

Genes:

MONDO:0013118 - Nijmegen breakage syndrome-like disorder

Genes:

MONDO:0030030 - Nizon-Isidor syndrome

Genes:

MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency

Genes:

MONDO:0007763 - nonpapillary renal cell carcinoma

Genes:

MONDO:0007900 - nonsyndromic congenital nail disorder 3

Genes:

MONDO:0018997 - Noonan syndrome

Genes:

MONDO:0033669 - Noonan syndrome 13

Genes:

MONDO:0012371 - Noonan syndrome 3

Genes:

MONDO:0013186 - Noonan syndrome 6

Genes:

MONDO:0054588 - Noonan syndrome-like disorder with loose anagen hair 2

Genes:

MONDO:0009515 - Norum disease

Genes:

MONDO:0032793 - O'Donnell-Luria-Rodan syndrome

Genes:

MONDO:0010961 - obesity due to prohormone convertase I deficiency

Genes:

MONDO:0010572 - occipital horn syndrome

Genes:

MONDO:0009485 - oculocerebrofacial syndrome, Kaufman type

Genes:

MONDO:0010645 - oculocerebrorenal syndrome

Genes:

MONDO:0011683 - oculocutaneous albinism type 4

Genes:

MONDO:0958176 - oculopharyngeal muscular dystrophy 1

Genes:

MONDO:0100325 - odontochondrodysplasia 1

Genes:

MONDO:0010457 - Ogden syndrome

Genes:

MONDO:0014893 - Okur-Chung neurodevelopmental syndrome

Genes:

MONDO:0859161 - onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Genes:

MONDO:0030925 - oocyte maturation defect 10

Genes:

MONDO:0859330 - oocyte maturation defect 13

Genes:

MONDO:0859521 - oocyte maturation defect 14

Genes:

MONDO:0021573 - oocyte maturation defect 2

Genes:

MONDO:0020837 - oocyte maturation defect 5

Genes:

MONDO:0957961 - oocyte/zygote/embryo maturation arrest 21

Genes:

MONDO:0020737 - optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Genes:

MONDO:0015011 - optic atrophy 11

Genes:

MONDO:0033549 - optic atrophy 12

Genes:

MONDO:0008135 - optic atrophy 13 with retinal and foveal abnormalities

Genes:

MONDO:0957935 - optic atrophy 15

Genes:

MONDO:0957978 - optic atrophy 16

Genes:

MONDO:0008133 - optic atrophy 3

Genes:

MONDO:0012543 - optic atrophy 5

Genes:

MONDO:0014571 - optic atrophy 9

Genes:

MONDO:0007429 - optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Genes:

MONDO:0009796 - ornithine aminotransferase deficiency

Genes:

MONDO:0010703 - ornithine carbamoyltransferase deficiency

Genes:

MONDO:0013378 - orofacial cleft 10

Genes:

MONDO:0009797 - orotic aciduria

Genes:

MONDO:0012592 - osteogenesis imperfecta type 11

Genes:

MONDO:0009805 - osteogenesis imperfecta type 9

Genes:

MONDO:0030861 - osteogenesis imperfecta, type 21

Genes:

MONDO:0859164 - osteootohepatoenteric syndrome

Genes:

MONDO:0957262 - osteopetrosis, autosomal recessive 9

Genes:

MONDO:0859253 - osteoporosis, childhood- or juvenile-onset, with developmental delay

Genes:

MONDO:0968980 - otosclerosis 12

Genes:

MONDO:0008170 - ovarian cancer

Genes:

MONDO:0030736 - ovarian dysgenesis 10

Genes:

MONDO:0013689 - ovarian dysgenesis 3

Genes:

MONDO:0054850 - ovarian dysgenesis 6

Genes:

MONDO:0100283 - overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Genes:

MONDO:0008493 - overhydrated hereditary stomatocytosis

Genes:

MONDO:0008759 - oxoglutaricaciduria

Genes:

MONDO:0032893 - pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Genes:

MONDO:0014751 - palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Genes:

MONDO:0007858 - palmoplantar keratoderma, punctate type 1A

Genes:

MONDO:0008416 - palmoplantar keratoderma-sclerodactyly syndrome

Genes:

MONDO:0975953 - Pan-Chung-Bellen syndrome

Genes:

MONDO:0010802 - pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

Genes:

MONDO:0012004 - parathyroid gland carcinoma

Genes:

MONDO:0859249 - parenti-mignot neurodevelopmental syndrome

Genes:

MONDO:0011896 - Parkinson disease 11, autosomal dominant, susceptibility to

Genes:

MONDO:0012466 - Parkinson disease 13, autosomal dominant, susceptibility to

Genes:

MONDO:0013625 - Parkinson disease 17

Genes:

MONDO:0014742 - Parkinson disease 22, autosomal dominant

Genes:

MONDO:0957576 - Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development

Genes:

MONDO:0030676 - parkinsonism-dystonia 3, childhood-onset

Genes:

MONDO:0010438 - paroxysmal nocturnal hemoglobinuria 1

Genes:

MONDO:0014166 - paroxysmal nocturnal hemoglobinuria 2

Genes:

MONDO:0009841 - PEHO syndrome

Genes:

MONDO:0008214 - Pelger-Huet anomaly

Genes:

MONDO:0010134 - Pendred syndrome

Genes:

MONDO:0009846 - pentosuria

Genes:

MONDO:0007883 - periodic fever, immunodeficiency, and thrombocytopenia syndrome

Genes:

MONDO:0029131 - peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

Genes:

MONDO:0013711 - peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Genes:

MONDO:0011966 - periventricular heterotopia with microcephaly, autosomal recessive

Genes:

MONDO:0014966 - periventricular nodular heterotopia 7

Genes:

MONDO:0032588 - periventricular nodular heterotopia 8

Genes:

MONDO:0009965 - Perlman syndrome

Genes:

MONDO:0100165 - permanent neonatal diabetes mellitus 1

Genes:

MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

Genes:

MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

Genes:

MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

Genes:

MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

Genes:

MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

Genes:

MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

Genes:

MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

Genes:

MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

Genes:

MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

Genes:

MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

Genes:

MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

Genes:

MONDO:0013972 - Perrault syndrome 2

Genes:

MONDO:0014126 - Perrault syndrome 4

Genes:

MONDO:0976232 - Perrault syndrome 7

Genes:

MONDO:0008201 - Perry syndrome

Genes:

MONDO:0013968 - PGM1-congenital disorder of glycosylation

Genes:

MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma syndrome 7

Genes:

MONDO:0011152 - PHGDH deficiency

Genes:

MONDO:0859244 - phosphoribosylaminoimidazole carboxylase deficiency

Genes:

MONDO:0010395 - phosphoribosylpyrophosphate synthetase superactivity

Genes:

MONDO:0011213 - Pierpont syndrome

Genes:

MONDO:0014359 - pigmented nodular adrenocortical disease, primary, 4

Genes:

MONDO:0060568 - Pilarowski-Bjornsson syndrome

Genes:

MONDO:0009693 - plasma cell myeloma

Genes:

MONDO:0060583 - platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

Genes:

MONDO:0013663 - platelet-activating factor acetylhydrolase deficiency

Genes:

MONDO:0014078 - platelet-type bleeding disorder 15

Genes:

MONDO:0014518 - platelet-type bleeding disorder 19

Genes:

MONDO:0011014 - pleuropulmonary blastoma

Genes:

MONDO:0008907 - PMM2-congenital disorder of glycosylation

Genes:

MONDO:0011405 - poikiloderma with neutropenia

Genes:

MONDO:0032889 - Poirier-Bienvenu neurodevelopmental syndrome

Genes:

MONDO:0010916 - polycystic kidney disease 3 with or without polycystic liver disease

Genes:

MONDO:0031062 - polycystic kidney disease 7

Genes:

MONDO:0008265 - polycystic liver disease 1

Genes:

MONDO:0014860 - polycystic liver disease 2

Genes:

MONDO:0054743 - polycystic liver disease 3 with or without kidney cysts

Genes:

MONDO:0014497 - polyendocrine-polyneuropathy syndrome

Genes:

MONDO:0014526 - polyglucosan body myopathy type 2

Genes:

MONDO:0014679 - polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Genes:

MONDO:0011685 - polysubstance abuse, susceptibility to

Genes:

MONDO:0014349 - pontocerebellar hypoplasia type 10

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

Genes:

MONDO:0010190 - pontocerebellar hypoplasia type 2A

Genes:

MONDO:0012890 - pontocerebellar hypoplasia type 2B

Genes:

MONDO:0012891 - pontocerebellar hypoplasia type 2C

Genes:

MONDO:0014370 - pontocerebellar hypoplasia type 2E

Genes:

MONDO:0009166 - pontocerebellar hypoplasia type 4

Genes:

MONDO:0012438 - pontocerebellar hypoplasia type 5

Genes:

MONDO:0012683 - pontocerebellar hypoplasia type 6

Genes:

MONDO:0013990 - pontocerebellar hypoplasia type 8

Genes:

MONDO:0014351 - pontocerebellar hypoplasia type 9

Genes:

MONDO:0032643 - pontocerebellar hypoplasia, type 12

Genes:

MONDO:0032831 - pontocerebellar hypoplasia, type 13

Genes:

MONDO:0030258 - pontocerebellar hypoplasia, type 14

Genes:

MONDO:0030259 - pontocerebellar hypoplasia, type 15

Genes:

MONDO:0030438 - pontocerebellar hypoplasia, type 16

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

Genes:

MONDO:0054844 - pontocerebellar hypoplasia, type 1D

Genes:

MONDO:0030261 - pontocerebellar hypoplasia, type 1F

Genes:

MONDO:0014874 - pontocerebellar hypoplasia, type 2F

Genes:

MONDO:0008293 - porokeratosis 3, disseminated superficial actinic type

Genes:

MONDO:0013868 - porokeratosis 7, multiple types

Genes:

MONDO:0014713 - porokeratosis 9, multiple types

Genes:

MONDO:0013000 - porphyria due to ALA dehydratase deficiency

Genes:

MONDO:0009903 - postaxial acrofacial dysostosis

Genes:

MONDO:0008304 - premature chromatid separation trait

Genes:

MONDO:0014843 - premature ovarian failure 11

Genes:

MONDO:0054862 - premature ovarian failure 15

Genes:

MONDO:0030870 - premature ovarian failure 17

Genes:

MONDO:0958035 - premature ovarian failure 23

Genes:

MONDO:0010350 - premature ovarian failure 2A

Genes:

MONDO:0014321 - premature ovarian failure 8

Genes:

MONDO:0014909 - primary ciliary dyskinesia 34

Genes:

MONDO:0014754 - primary coenzyme Q10 deficiency 8

Genes:

MONDO:0009824 - primary hyperoxaluria type 2

Genes:

MONDO:0012559 - primary immunodeficiency syndrome due to p14 deficiency

Genes:

MONDO:0012383 - primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Genes:

MONDO:0859276 - primordial dwarfism-immunodeficiency-lipodystrophy syndrome

Genes:

MONDO:0013382 - progressive demyelinating neuropathy with bilateral striatal necrosis

Genes:

MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Genes:

MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

Genes:

MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Genes:

MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Genes:

MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Genes:

MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

Genes:

MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

Genes:

MONDO:0011156 - progressive familial intrahepatic cholestasis type 2

Genes:

MONDO:0011214 - progressive familial intrahepatic cholestasis type 3

Genes:

MONDO:0014714 - progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Genes:

MONDO:0013526 - progressive myoclonic epilepsy type 6

Genes:

MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

Genes:

MONDO:0700275 - prostate cancer, hereditary

Genes:

MONDO:0013872 - prostate cancer, hereditary, 2

Genes:

MONDO:0054698 - proteasome-associated autoinflammatory syndrome 1

Genes:

MONDO:0054700 - proteasome-associated autoinflammatory syndrome 2

Genes:

MONDO:0054699 - proteasome-associated autoinflammatory syndrome 3

Genes:

MONDO:0968983 - proteasome-associated autoinflammatory syndrome 6

Genes:

MONDO:0010644 - proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

Genes:

MONDO:0008318 - Proteus syndrome

Genes:

MONDO:0008319 - protoporphyria, erythropoietic, 1

Genes:

MONDO:0012596 - PSAT deficiency

Genes:

MONDO:0013782 - pseudohypoaldosteronism type 2E

Genes:

MONDO:0011301 - pseudohypoparathyroidism type 1B

Genes:

MONDO:0008333 - pseudoxanthoma elasticum, forme fruste

Genes:

MONDO:0014494 - psoriasis 15, pustular, susceptibility to

Genes:

MONDO:0013531 - PSPH deficiency

Genes:

MONDO:0044726 - psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Genes:

MONDO:0017623 - PTEN hamartoma tumor syndrome

Genes:

MONDO:0009908 - pterin-4 alpha-carbinolamine dehydratase 1 deficiency

Genes:

MONDO:0957261 - pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

Genes:

MONDO:0957263 - pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

Genes:

MONDO:0957294 - pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

Genes:

MONDO:0013878 - pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Genes:

MONDO:0013879 - pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

Genes:

MONDO:0014612 - pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

Genes:

MONDO:0030690 - pulmonary fibrosis and/or bone marrow failure, telomere-related, 6

Genes:

MONDO:0009935 - pulmonary hypertension, primary, 5

Genes:

MONDO:0009329 - pulmonary venoocclusive disease 2

Genes:

MONDO:0013171 - purine nucleoside phosphorylase deficiency

Genes:

MONDO:0013755 - PYCR1-related de Barsy syndrome

Genes:

MONDO:0011462 - pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Genes:

MONDO:0012407 - pyridoxal phosphate-responsive seizures

Genes:

MONDO:0009949 - pyruvate carboxylase deficiency disease

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

Genes:

MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

Genes:

MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

Genes:

MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

Genes:

MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

Genes:

MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

Genes:

MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

Genes:

MONDO:0009950 - pyruvate kinase deficiency of red cells

Genes:

MONDO:0007067 - pyruvate kinase hyperactivity

Genes:

MONDO:0859331 - Rabin-Pappas syndrome

Genes:

MONDO:0013624 - Rafiq syndrome

Genes:

MONDO:0100215 - Rajab interstitial lung disease with brain calcifications 1

Genes:

MONDO:0100220 - Rajab interstitial lung disease with brain calcifications 2

Genes:

MONDO:0009955 - rapadilino syndrome

Genes:

MONDO:0021060 - RASopathy

Genes:

MONDO:0018663 - regressive spondylometaphyseal dysplasia

Genes:

MONDO:0011037 - renal dysplasia, cystic, susceptibility to

Genes:

MONDO:0009968 - renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Genes:

MONDO:0011268 - renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

Genes:

MONDO:0012700 - renal tubular acidosis, distal, 4, with hemolytic anemia

Genes:

MONDO:0005201 - restrictive cardiomyopathy

Genes:

MONDO:0800042 - restrictive dermopathy 1

Genes:

MONDO:0009973 - reticular dysgenesis

Genes:

MONDO:0008379 - retinitis pigmentosa 10

Genes:

MONDO:0010828 - retinitis pigmentosa 11

Genes:

MONDO:0010806 - retinitis pigmentosa 13

Genes:

MONDO:0011075 - retinitis pigmentosa 18

Genes:

MONDO:0010723 - retinitis pigmentosa 2

Genes:

MONDO:0012363 - retinitis pigmentosa 32

Genes:

MONDO:0012477 - retinitis pigmentosa 33

Genes:

MONDO:0012943 - retinitis pigmentosa 46

Genes:

MONDO:0013468 - retinitis pigmentosa 59

Genes:

MONDO:0013516 - retinitis pigmentosa 60

Genes:

MONDO:0013611 - retinitis pigmentosa 62

Genes:

MONDO:0014256 - retinitis pigmentosa 67

Genes:

MONDO:0014323 - retinitis pigmentosa 68

Genes:

MONDO:0014400 - retinitis pigmentosa 70

Genes:

MONDO:0015013 - retinitis pigmentosa 77

Genes:

MONDO:0044320 - retinitis pigmentosa 79

Genes:

MONDO:0032604 - retinitis pigmentosa 84

Genes:

MONDO:0033563 - retinitis pigmentosa 90

Genes:

MONDO:0014850 - retinitis pigmentosa and erythrocytic microcytosis

Genes:

MONDO:0044634 - retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Genes:

MONDO:0014495 - retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Genes:

MONDO:0013276 - Reynolds syndrome

Genes:

MONDO:0012783 - RFT1-congenital disorder of glycosylation

Genes:

MONDO:0019107 - Rh deficiency syndrome

Genes:

MONDO:0012252 - rhabdoid tumor predisposition syndrome 1

Genes:

MONDO:0013224 - rhabdoid tumor predisposition syndrome 2

Genes:

MONDO:0859046 - rhabdomyosarcoma, embryonal, 2

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

Genes:

MONDO:0859203 - rhizomelic dysplasia, Ain-Naz type

Genes:

MONDO:0012073 - ribose-5-P isomerase deficiency

Genes:

MONDO:0009998 - Richieri Costa-Pereira syndrome

Genes:

MONDO:0009131 - Riley-Day syndrome

Genes:

MONDO:0010000 - rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

Genes:

MONDO:0011449 - Salla disease

Genes:

MONDO:0032926 - sandestig-stefanova syndrome

Genes:

MONDO:0005090 - schizophrenia

Genes:

MONDO:0010943 - schizophrenia 4

Genes:

MONDO:0010013 - schneckenbecken dysplasia

Genes:

MONDO:0008869 - Seckel syndrome 1

Genes:

MONDO:0014991 - Seckel syndrome 10

Genes:

MONDO:0011715 - Seckel syndrome 2

Genes:

MONDO:0014350 - Seckel syndrome 8

Genes:

MONDO:0008922 - Sengers syndrome

Genes:

MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Genes:

MONDO:0014168 - severe combined immunodeficiency due to CORO1A deficiency

Genes:

MONDO:0007064 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Genes:

MONDO:0014206 - severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Genes:

MONDO:0014886 - severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Genes:

MONDO:0014784 - severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Genes:

MONDO:0014238 - severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Genes:

MONDO:0010334 - severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

Genes:

MONDO:0018767 - severe primary trimethylaminuria

Genes:

MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

Genes:

MONDO:0859368 - short QT syndrome 7

Genes:

MONDO:0032875 - short stature and microcephaly with genital anomalies

Genes:

MONDO:0014686 - short stature, microcephaly, and endocrine dysfunction

Genes:

MONDO:0030992 - short stature, oligodontia, dysmorphic facies, and motor delay

Genes:

MONDO:0014948 - short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Genes:

MONDO:0013889 - short stature-optic atrophy-Pelger-Huët anomaly syndrome

Genes:

MONDO:0054565 - short-rib thoracic dysplasia 17 with or without polydactyly

Genes:

MONDO:0044204 - Shwachman-Diamond syndrome 1

Genes:

MONDO:0044205 - Shwachman-Diamond syndrome 2

Genes:

MONDO:0013568 - sick sinus syndrome 3, susceptibility to

Genes:

MONDO:0859173 - sick sinus syndrome 4

Genes:

MONDO:0032842 - Siddiqi syndrome

Genes:

MONDO:0008785 - sideroblastic anemia 2

Genes:

MONDO:0014804 - sideroblastic anemia 3

Genes:

MONDO:0014946 - Sifrim-Hitz-Weiss syndrome

Genes:

MONDO:0020747 - sitosterolemia 1

Genes:

MONDO:0020748 - sitosterolemia 2

Genes:

MONDO:0014755 - skin creases, congenital symmetric circumferential, 2

Genes:

MONDO:0054636 - Skraban-Deardorff syndrome

Genes:

MONDO:0010478 - SLC35A2-congenital disorder of glycosylation

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

Genes:

MONDO:0010035 - Smith-Lemli-Opitz syndrome

Genes:

MONDO:0032600 - Snijders Blok-Campeau syndrome

Genes:

MONDO:0008165 - southeast Asian ovalocytosis

Genes:

MONDO:0958009 - spastic ataxia 10, autosomal recessive

Genes:

MONDO:0012651 - spastic ataxia 2

Genes:

MONDO:0012664 - spastic ataxia 3

Genes:

MONDO:0013354 - spastic ataxia 4

Genes:

MONDO:0013776 - spastic ataxia 5

Genes:

MONDO:0971149 - spastic paraplegia 30B, autosomal recessive

Genes:

MONDO:0957958 - spastic paraplegia 72b, autosomal recessive

Genes:

MONDO:0032906 - spastic paraplegia 82, autosomal recessive

Genes:

MONDO:0030482 - spastic paraplegia 84, autosomal recessive

Genes:

MONDO:0030512 - spastic paraplegia 85, autosomal recessive

Genes:

MONDO:0031019 - spastic paraplegia 87, autosomal recessive

Genes:

MONDO:0957308 - spastic paraplegia 90A, autosomal dominant

Genes:

MONDO:0957309 - spastic paraplegia 90B, autosomal recessive

Genes:

MONDO:0975796 - spastic paraplegia 93, autosomal recessive

Genes:

MONDO:0032828 - spastic tetraplegia and axial hypotonia, progressive

Genes:

MONDO:0014803 - spasticity-ataxia-gait anomalies syndrome

Genes:

MONDO:0044208 - specific granule deficiency 2

Genes:

MONDO:0013901 - spermatogenic failure 10

Genes:

MONDO:0014961 - spermatogenic failure 16

Genes:

MONDO:0054725 - spermatogenic failure 21

Genes:

MONDO:0054726 - spermatogenic failure 22

Genes:

MONDO:0054732 - spermatogenic failure 28

Genes:

MONDO:0011720 - spermatogenic failure 3

Genes:

MONDO:0009461 - spermatogenic failure 5

Genes:

MONDO:0030869 - spermatogenic failure 50

Genes:

MONDO:0030507 - spermatogenic failure 61

Genes:

MONDO:0030515 - spermatogenic failure 63

Genes:

MONDO:0030733 - spermatogenic failure 70

Genes:

MONDO:0030787 - spermatogenic failure 71

Genes:

MONDO:0971000 - spermatogenic failure 93

Genes:

MONDO:0024773 - spermatogenic failure, X-linked, 4

Genes:

MONDO:0976123 - spermatogenic failure, X-linked, 9

Genes:

MONDO:0014806 - spinal muscular atrophy with congenital bone fractures 1

Genes:

MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2

Genes:

MONDO:0859279 - spinal muscular atrophy, distal, autosomal recessive, 6

Genes:

MONDO:0033621 - spinal muscular atrophy, infantile, James type

Genes:

MONDO:0009669 - spinal muscular atrophy, type 1

Genes:

MONDO:0009673 - spinal muscular atrophy, type II

Genes:

MONDO:0009672 - spinal muscular atrophy, type III

Genes:

MONDO:0010056 - spinal muscular atrophy, type IV

Genes:

MONDO:0016163 - spinocerebellar ataxia 7

Genes:

MONDO:0011330 - spinocerebellar ataxia type 10

Genes:

MONDO:0011439 - spinocerebellar ataxia type 12

Genes:

MONDO:0011781 - spinocerebellar ataxia type 17

Genes:

MONDO:0008458 - spinocerebellar ataxia type 2

Genes:

MONDO:0012246 - spinocerebellar ataxia type 26

Genes:

MONDO:0012450 - spinocerebellar ataxia type 28

Genes:

MONDO:0007574 - spinocerebellar ataxia type 34

Genes:

MONDO:0013594 - spinocerebellar ataxia type 36

Genes:

MONDO:0014417 - spinocerebellar ataxia type 38

Genes:

MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

Genes:

MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

Genes:

MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

Genes:

MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

Genes:

MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

Genes:

MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

Genes:

MONDO:0011801 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Genes:

MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Genes:

MONDO:0010075 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Genes:

MONDO:0032724 - spondyloepimetaphyseal dysplasia with joint laxity, type 3

Genes:

MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations

Genes:

MONDO:0010275 - spondyloepimetaphyseal dysplasia, Bieganski type

Genes:

MONDO:0958006 - spondyloepimetaphyseal dysplasia, Guo-Campeau type

Genes:

MONDO:0032885 - spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Genes:

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type

Genes:

MONDO:0010737 - spondyloepiphyseal dysplasia tarda, X-linked

Genes:

MONDO:0031007 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Genes:

MONDO:0030074 - spondylometaphyseal dysplasia with corneal dystrophy

Genes:

MONDO:0009593 - spondylometaphyseal dysplasia, Sedaghatian type

Genes:

MONDO:0012160 - spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Genes:

MONDO:0032566 - squalene synthase deficiency

Genes:

MONDO:0012885 - SRD5A3-congenital disorder of glycosylation

Genes:

MONDO:0054591 - Stankiewicz-Isidor syndrome

Genes:

MONDO:0010819 - Stargardt disease 3

Genes:

MONDO:0014889 - striatonigral degeneration, childhood-onset

Genes:

MONDO:0014270 - STT3A-congenital disorder of glycosylation

Genes:

MONDO:0014271 - STT3B-congenital disorder of glycosylation

Genes:

MONDO:0010083 - succinic semialdehyde dehydrogenase deficiency

Genes:

MONDO:0009492 - succinyl-CoA:3-ketoacid CoA transferase deficiency

Genes:

MONDO:0014974 - sudden cardiac failure, alcohol-induced

Genes:

MONDO:0014973 - sudden cardiac failure, infantile

Genes:

MONDO:0033532 - Suleiman-El-Hattab syndrome

Genes:

MONDO:0030982 - sulfide quinone oxidoreductase deficiency

Genes:

MONDO:0100003 - susceptibility to angioedema induced by ACE inhibitors

Genes:

MONDO:0010408 - syndactyly-telecanthus-anogenital and renal malformations syndrome

Genes:

MONDO:0010398 - syndromic X-linked intellectual disability 14

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

Genes:

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

Genes:

MONDO:0957990 - Tan-Almurshedi syndrome

Genes:

MONDO:0010711 - TARP syndrome

Genes:

MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

Genes:

MONDO:0030729 - Tessadori-van Haaften neurodevelopmental syndrome 1

Genes:

MONDO:0030730 - Tessadori-van Haaften neurodevelopmental syndrome 2

Genes:

MONDO:0030993 - Tessadori-Van Haaften neurodevelopmental syndrome 3

Genes:

MONDO:0031000 - Tessadori-Van Haaften neurodevelopmental syndrome 4

Genes:

MONDO:0008542 - tetralogy of fallot

Genes:

MONDO:0010743 - thrombocytopenia 1

Genes:

MONDO:0958333 - thrombocytopenia 13, syndromic

Genes:

MONDO:0012775 - thrombocytopenia 4

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

Genes:

MONDO:0008559 - thrombophilia due to thrombin defect

Genes:

MONDO:0008566 - thyroid cancer, nonmedullary, 2

Genes:

MONDO:0013870 - TMEM165-congenital disorder of glycosylation

Genes:

MONDO:0014790 - TMEM199-CDG

Genes:

MONDO:0010854 - Toriello-Lacassie-Droste syndrome

Genes:

MONDO:0007493 - torsion dystonia 4

Genes:

MONDO:0011624 - transaldolase deficiency

Genes:

MONDO:0013771 - transient infantile hypertriglyceridemia and hepatosteatosis

Genes:

MONDO:0014881 - transketolase deficiency

Genes:

MONDO:0013385 - Treacher Collins syndrome 2

Genes:

MONDO:0009558 - Treacher Collins syndrome 3

Genes:

MONDO:0030067 - Treacher Collins syndrome 4

Genes:

MONDO:0024541 - trichohepatoenteric syndrome 1

Genes:

MONDO:0013818 - trichohepatoenteric syndrome 2

Genes:

MONDO:0032645 - trichohepatoneurodevelopmental syndrome

Genes:

MONDO:0010152 - trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Genes:

MONDO:0011125 - trichothiodystrophy 1, photosensitive

Genes:

MONDO:0014615 - trichothiodystrophy 2, photosensitive

Genes:

MONDO:0014619 - trichothiodystrophy 3, photosensitive

Genes:

MONDO:0010495 - trichothiodystrophy 5, nonphotosensitive

Genes:

MONDO:0014841 - trichothiodystrophy 6, nonphotosensitive

Genes:

MONDO:0032806 - trichothiodystrophy 7, nonphotosensitive

Genes:

MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

Genes:

MONDO:0030518 - trichothiodystrophy 9, nonphotosensitive

Genes:

MONDO:0032927 - triokinase and FMN cyclase deficiency syndrome

Genes:

MONDO:0014221 - triosephosphate isomerase deficiency

Genes:

MONDO:0008016 - trismus-pseudocamptodactyly syndrome

Genes:

MONDO:0008612 - tuberous sclerosis 1

Genes:

MONDO:0013199 - tuberous sclerosis 2

Genes:

MONDO:0014368 - tumor predisposition syndrome 3

Genes:

MONDO:0010863 - type 1 diabetes mellitus 5

Genes:

MONDO:0005148 - type 2 diabetes mellitus

Genes:

MONDO:0001187 - urinary bladder cancer

Genes:

MONDO:0013788 - Usher syndrome type 3B

Genes:

MONDO:0859174 - Usmani-Riazuddin syndrome, autosomal dominant

Genes:

MONDO:0859196 - Usmani-Riazuddin syndrome, autosomal recessive

Genes:

MONDO:0010909 - UV-sensitive syndrome 1

Genes:

MONDO:0013829 - UV-sensitive syndrome 2

Genes:

MONDO:0008297 - variegate porphyria

Genes:

MONDO:0957577 - variegate porphyria, childhood-onset

Genes:

MONDO:0013063 - ventricular fibrillation, paroxysmal familial, 2

Genes:

MONDO:0030077 - vertebral, cardiac, renal, and limb defects syndrome 3

Genes:

MONDO:0030987 - vertebral, cardiac, tracheoesophageal, renal, and limb defects

Genes:

MONDO:0026777 - VEXAS syndrome

Genes:

MONDO:0020754 - visceral myopathy 1

Genes:

MONDO:0859157 - visceral myopathy 2

Genes:

MONDO:0859177 - VISS syndrome

Genes:

MONDO:0033618 - Vissers-Bodmer syndrome

Genes:

MONDO:0032655 - visual impairment and progressive phthisis bulbi

Genes:

MONDO:0014296 - Warburg micro syndrome 4

Genes:

MONDO:0013252 - Warsaw breakage syndrome

Genes:

MONDO:0010196 - Werner syndrome

Genes:

MONDO:0859169 - White-Kernohan syndrome

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

Genes:

MONDO:0010200 - Wilson disease

Genes:

MONDO:0010665 - Wilson-Turner syndrome

Genes:

MONDO:0010518 - Wiskott-Aldrich syndrome

Genes:

MONDO:0013779 - Wiskott-Aldrich syndrome 2

Genes:

MONDO:0009192 - Wolcott-Rallison syndrome

Genes:

MONDO:0008685 - Wolff-Parkinson-White syndrome

Genes:

MONDO:0019148 - Wolman disease

Genes:

MONDO:0010208 - wrinkly skin syndrome

Genes:

MONDO:0010485 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

Genes:

MONDO:0010338 - X-linked distal spinal muscular atrophy type 3

Genes:

MONDO:0010463 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Genes:

MONDO:0010747 - X-linked dystonia-parkinsonism

Genes:

MONDO:0010420 - X-linked erythropoietic protoporphyria

Genes:

MONDO:0010378 - X-linked hereditary sensory and autonomic neuropathy with hearing loss

Genes:

MONDO:0010455 - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

Genes:

MONDO:0015601 - X-linked intellectual disability, van Esch type

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

Genes:

MONDO:0010389 - X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

Genes:

MONDO:0010684 - X-linked myopathy with excessive autophagy

Genes:

MONDO:0010683 - X-linked myotubular myopathy

Genes:

MONDO:0010547 - X-linked progressive cerebellar ataxia

Genes:

MONDO:0010523 - X-linked reticulate pigmentary disorder

Genes:

MONDO:0010294 - X-linked severe congenital neutropenia

Genes:

MONDO:0020721 - X-linked sideroblastic anemia 1

Genes:

MONDO:0010524 - X-linked sideroblastic anemia with ataxia

Genes:

MONDO:0010210 - xeroderma pigmentosum group A

Genes:

MONDO:0012531 - xeroderma pigmentosum group B

Genes:

MONDO:0010211 - xeroderma pigmentosum group C

Genes:

MONDO:0010212 - xeroderma pigmentosum group D

Genes:

MONDO:0010215 - xeroderma pigmentosum group F

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

Genes:

MONDO:0010214 - xeroderma pigmentosum variant type

Genes:

MONDO:0957786 - xerosis and growth failure with immune and pulmonary dysfunction syndrome

Genes:

MONDO:0012590 - XFE progeroid syndrome

Genes:

MONDO:0008995 - Yunis-Varon syndrome

Genes:

MONDO:0957595 - Ziegler-Huang syndrome

Genes:

MONDO:0014646 - Zimmermann-Laband syndrome 2

Genes:

MONDO:0014936 - ZTTK syndrome

Genes: