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Disease association ontology term - MONDO:7770007 - disease by developmental or physiological process

Term summary

ID
MONDO:7770007
Name
disease by developmental or physiological process
Ontology or CV name
Disease association
Definition
A grouping class for human diseases classified by the molecular, biochemical, cellular, anatomic, developmental or physiological process that is disrupted.

Parents

Annotation

Disease association

MONDO:0016001 - 2-hydroxyglutaric aciduria

References:

Genes:

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

References:

Genes:

MONDO:0009603 - 3-hydroxyisobutyryl-CoA hydrolase deficiency

References:

Genes:

MONDO:0009787 - 3-methylglutaconic aciduria type 3

References:

Genes:

MONDO:0012435 - 3-methylglutaconic aciduria type 5

References:

Genes:

MONDO:0044723 - 3-methylglutaconic aciduria type 8

References:

Genes:

MONDO:0044724 - 3-methylglutaconic aciduria type 9

References:

Genes:

MONDO:0859237 - 3-methylglutaconic aciduria, type VIIA

References:

Genes:

MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB

References:

Genes:

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

References:

Genes:

MONDO:8000015 - 46,XY sex reversal 11

References:

Genes:

MONDO:0009825 - 5-oxoprolinase deficiency

References:

Genes:

MONDO:0014352 - abdominal obesity-metabolic syndrome 3

References:

Genes:

MONDO:0013571 - acatalasia

References:

Genes:

MONDO:0700300 - achalasia-progeroid syndrome

References:

Genes:

MONDO:0008701 - achondrogenesis type IA

References:

Genes:

MONDO:0010966 - achondrogenesis type IB

References:

Genes:

MONDO:0014651 - acrofacial dysostosis Cincinnati type

References:

Genes:

MONDO:0100044 - acrofrontofacionasal dysostosis 1

References:

Genes:

MONDO:0007048 - acrokeratosis verruciformis

References:

Genes:

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

References:

Genes:

MONDO:0008294 - acute intermittent porphyria

References:

Genes:

MONDO:0013895 - Adams-Oliver syndrome 3

References:

Genes:

MONDO:0013869 - adenine phosphoribosyltransferase deficiency

References:

Genes:

MONDO:0100255 - adenosine kinase deficiency

References:

Genes:

MONDO:0007068 - adenylosuccinate lyase deficiency

References:

Genes:

MONDO:1010154 - adult hypophosphatasia

References:

Genes:

MONDO:0009958 - adult Refsum disease

References:

Genes:

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

References:

Genes:

MONDO:0014088 - advanced sleep phase syndrome 2

References:

Genes:

MONDO:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0012282 - Al-Gazali syndrome

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

References:

Genes:

MONDO:0007079 - alcohol dependence

References:

Genes:

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

References:

Genes:

MONDO:0012052 - ALG1-congenital disorder of glycosylation

References:

Genes:

MONDO:0013349 - ALG11-congenital disorder of glycosylation

References:

Genes:

MONDO:0011783 - ALG12-congenital disorder of glycosylation

References:

Genes:

MONDO:0011933 - ALG2-congenital disorder of glycosylation

References:

Genes:

MONDO:0010998 - ALG3-congenital disorder of glycosylation

References:

Genes:

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

References:

Genes:

MONDO:0011969 - ALG8-congenital disorder of glycosylation

References:

Genes:

MONDO:0012117 - ALG9-congenital disorder of glycosylation

References:

Genes:

MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0018965 - Alport syndrome

References:

Genes:

MONDO:0011790 - Amish lethal microcephaly

References:

Genes:

MONDO:0971004 - amyloidosis, hereditary systemic 1

References:

Genes:

MONDO:0054560 - anauxetic dysplasia 1

References:

Genes:

MONDO:0054561 - anauxetic dysplasia 2

References:

Genes:

MONDO:0030019 - anauxetic dysplasia 3

References:

Genes:

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

References:

Genes:

MONDO:0014937 - aniridia 2

References:

Genes:

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

References:

Genes:

MONDO:0009025 - apparent mineralocorticoid excess

References:

Genes:

MONDO:0008814 - arginase deficiency

References:

Genes:

MONDO:0008815 - argininosuccinic aciduria

References:

Genes:

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

References:

Genes:

MONDO:0030281 - arthrogryposis multiplex congenita 6

References:

Genes:

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

References:

Genes:

MONDO:0030847 - arthrogryposis, distal, type 1C

References:

Genes:

MONDO:0032751 - arthrogryposis, distal, type 2B3

References:

Genes:

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

References:

Genes:

MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

References:

Genes:

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

References:

Genes:

MONDO:0024557 - ataxia-telangiectasia-like disorder 1

References:

Genes:

MONDO:0014399 - ataxia-telangiectasia-like disorder 2

References:

Genes:

MONDO:0009727 - atelosteogenesis type II

References:

Genes:

MONDO:0013567 - atrial septal defect 3

References:

Genes:

MONDO:0013011 - atrial septal defect 5

References:

Genes:

MONDO:0013770 - atrial septal defect 9

References:

Genes:

MONDO:0013769 - atrioventricular septal defect 5

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

MONDO:0060582 - auditory neuropathy-optic atrophy syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

References:

Genes:

MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

References:

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

Genes:

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

References:

Genes:

MONDO:0018163 - autosomal recessive cutis laxa type 2A

References:

Genes:

MONDO:0013051 - autosomal recessive cutis laxa type 2B

References:

Genes:

MONDO:0027462 - autosomal recessive cutis laxa type 2C

References:

Genes:

MONDO:0027451 - autosomal recessive cutis laxa type 2D

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0019502 - autosomal recessive non-syndromic intellectual disability

References:

Genes:

MONDO:0016660 - autosomal recessive primary microcephaly

References:

Genes:

MONDO:0011422 - autosomal recessive proximal renal tubular acidosis

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0009039 - Baller-Gerold syndrome

References:

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

References:

Genes:

MONDO:0008858 - Behr syndrome

References:

Genes:

MONDO:0011559 - benign recurrent intrahepatic cholestasis type 2

References:

Genes:

MONDO:0008760 - beta-ketothiolase deficiency

References:

Genes:

MONDO:0009872 - Bjornstad syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0008876 - Bloom syndrome

References:

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

References:

Genes:

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

References:

Genes:

MONDO:0008913 - cardiac valvular defect, developmental

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

References:

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

References:

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

References:

Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

References:

Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

References:

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

Genes:

MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

References:

Genes:

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

References:

Genes:

MONDO:0014507 - Catel-Manzke syndrome

References:

Genes:

MONDO:0019165 - central precocious puberty

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014529 - cerebellar-facial-dental syndrome

References:

Genes:

MONDO:0007301 - cerebrocostomandibular syndrome

References:

Genes:

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

References:

Genes:

MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

References:

Genes:

MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

References:

Genes:

MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

References:

Genes:

MONDO:0015026 - cerebroretinal microangiopathy with calcifications and cysts 2

References:

Genes:

MONDO:0957264 - cerebroretinal microangiopathy with calcifications and cysts 3

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0008963 - Chediak-Higashi syndrome

References:

Genes:

MONDO:0010621 - CHILD syndrome

References:

Genes:

MONDO:0013761 - childhood encephalopathy due to thiamine pyrophosphokinase deficiency

References:

Genes:

MONDO:1010168 - childhood hypophosphatasia

References:

Genes:

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

References:

Genes:

MONDO:0010221 - CHIME syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0030810 - cholestasis, progressive familial intrahepatic, 10

References:

Genes:

MONDO:0031040 - cholestasis, progressive familial intrahepatic, 12

References:

Genes:

MONDO:0019149 - cholesteryl ester storage disease

References:

Genes:

MONDO:0010814 - chondrodysplasia-pseudohermaphroditism syndrome

References:

Genes:

MONDO:0013256 - chromosome 15q24 deletion syndrome

References:

Genes:

MONDO:0009528 - chylomicron retention disease

References:

Genes:

MONDO:0015991 - citrullinemia

References:

Genes:

MONDO:0008988 - citrullinemia type I

References:

Genes:

MONDO:0010441 - CK syndrome

References:

Genes:

MONDO:0009258 - classic galactosemia

References:

Genes:

MONDO:0009352 - classic homocystinuria

References:

Genes:

MONDO:0016006 - Cockayne syndrome

References:

Genes:

MONDO:0019569 - Cockayne syndrome type 1

References:

Genes:

MONDO:0019570 - Cockayne syndrome type 2

References:

Genes:

MONDO:0010879 - CODAS syndrome

References:

Genes:

MONDO:0018151 - coenzyme Q10 deficiency

References:

Genes:

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

References:

Genes:

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

References:

Genes:

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

References:

Genes:

MONDO:0015452 - Coffin-Siris syndrome

References:

Genes:

MONDO:0007617 - Coffin-Siris syndrome 1

References:

Genes:

MONDO:0032912 - Coffin-Siris syndrome 11

References:

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

References:

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

References:

Genes:

MONDO:0012637 - COG1-congenital disorder of glycosylation

References:

Genes:

MONDO:0013281 - COG4-congenital disorder of glycosylation

References:

Genes:

MONDO:0013325 - COG5-congenital disorder of glycosylation

References:

Genes:

MONDO:0013810 - COG6-congenital disorder of glycosylation

References:

Genes:

MONDO:0012635 - COG8-congenital disorder of glycosylation

References:

Genes:

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

References:

Genes:

MONDO:0007204 - Cole-Carpenter syndrome 1

References:

Genes:

MONDO:0014573 - Cole-Carpenter syndrome 2

References:

Genes:

MONDO:0013661 - combined malonic and methylmalonic acidemia

References:

Genes:

MONDO:0013969 - combined oxidative phosphorylation defect type 11

References:

Genes:

MONDO:0013986 - combined oxidative phosphorylation defect type 14

References:

Genes:

MONDO:0013987 - combined oxidative phosphorylation defect type 15

References:

Genes:

MONDO:0014190 - combined oxidative phosphorylation defect type 17

References:

Genes:

MONDO:0012510 - combined oxidative phosphorylation defect type 2

References:

Genes:

MONDO:0014397 - combined oxidative phosphorylation defect type 20

References:

Genes:

MONDO:0014398 - combined oxidative phosphorylation defect type 21

References:

Genes:

MONDO:0014525 - combined oxidative phosphorylation defect type 23

References:

Genes:

MONDO:0014547 - combined oxidative phosphorylation defect type 24

References:

Genes:

MONDO:0014636 - combined oxidative phosphorylation defect type 25

References:

Genes:

MONDO:0014684 - combined oxidative phosphorylation defect type 26

References:

Genes:

MONDO:0012534 - combined oxidative phosphorylation defect type 4

References:

Genes:

MONDO:0013306 - combined oxidative phosphorylation defect type 7

References:

Genes:

MONDO:0013570 - combined oxidative phosphorylation defect type 8

References:

Genes:

MONDO:0013811 - combined oxidative phosphorylation defect type 9

References:

Genes:

MONDO:0000732 - combined oxidative phosphorylation deficiency

References:

Genes:

MONDO:0014269 - combined oxidative phosphorylation deficiency 19

References:

Genes:

MONDO:0020727 - combined oxidative phosphorylation deficiency 22

References:

Genes:

MONDO:0014775 - combined oxidative phosphorylation deficiency 28

References:

Genes:

MONDO:0054677 - combined oxidative phosphorylation deficiency 33

References:

Genes:

MONDO:0054741 - combined oxidative phosphorylation deficiency 34

References:

Genes:

MONDO:0054742 - combined oxidative phosphorylation deficiency 35

References:

Genes:

MONDO:0054781 - combined oxidative phosphorylation deficiency 36

References:

Genes:

MONDO:0032712 - combined oxidative phosphorylation deficiency 38

References:

Genes:

MONDO:0032726 - combined oxidative phosphorylation deficiency 39

References:

Genes:

MONDO:0030006 - combined oxidative phosphorylation deficiency 40

References:

Genes:

MONDO:0030007 - combined oxidative phosphorylation deficiency 41

References:

Genes:

MONDO:0030008 - combined oxidative phosphorylation deficiency 42

References:

Genes:

MONDO:0030017 - combined oxidative phosphorylation deficiency 43

References:

Genes:

MONDO:0033533 - combined oxidative phosphorylation deficiency 45

References:

Genes:

MONDO:0033534 - combined oxidative phosphorylation deficiency 46

References:

Genes:

MONDO:0033537 - combined oxidative phosphorylation deficiency 47

References:

Genes:

MONDO:0030311 - combined oxidative phosphorylation deficiency 52

References:

Genes:

MONDO:0859228 - combined oxidative phosphorylation deficiency 55

References:

Genes:

MONDO:0859323 - combined oxidative phosphorylation deficiency 56

References:

Genes:

MONDO:0859337 - combined oxidative phosphorylation deficiency 57

References:

Genes:

MONDO:0978298 - combined oxidative phosphorylation deficiency 60

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0800044 - congenital disorder of deglycosylation 1

References:

Genes:

MONDO:0030770 - congenital disorder of deglycosylation 2

References:

Genes:

MONDO:0015286 - congenital disorder of glycosylation

References:

Genes:

MONDO:0012123 - congenital disorder of glycosylation type 1E

References:

Genes:

MONDO:0005500 - congenital disorder of glycosylation type I

References:

Genes:

MONDO:0014904 - congenital disorder of glycosylation, type IAA

References:

Genes:

MONDO:0026729 - congenital disorder of glycosylation, type ICC

References:

Genes:

MONDO:0957540 - congenital disorder of glycosylation, type IIaa

References:

Genes:

MONDO:0957820 - congenital disorder of glycosylation, type IIbb

References:

Genes:

MONDO:0980705 - congenital disorder of glycosylation, type IIcc

References:

Genes:

MONDO:0054559 - congenital disorder of glycosylation, type IIq

References:

Genes:

MONDO:0859356 - congenital disorder of glycosylation, type IIy

References:

Genes:

MONDO:0859357 - congenital disorder of glycosylation, type IIz

References:

Genes:

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

References:

Genes:

MONDO:0009134 - congenital dyserythropoietic anemia type 2

References:

Genes:

MONDO:0012071 - congenital generalized lipodystrophy type 1

References:

Genes:

MONDO:0010020 - congenital generalized lipodystrophy type 2

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0012518 - congenital myasthenic syndrome 12

References:

Genes:

MONDO:0014543 - congenital myasthenic syndrome 14

References:

Genes:

MONDO:0014542 - congenital myasthenic syndrome 15

References:

Genes:

MONDO:0009114 - congenital sucrase-isomaltase deficiency

References:

Genes:

MONDO:0016581 - conotruncal heart malformations

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0016033 - Cornelia de Lange syndrome

References:

Genes:

MONDO:0007387 - Cornelia de Lange syndrome 1

References:

Genes:

MONDO:0010370 - Cornelia de Lange syndrome 2

References:

Genes:

MONDO:0012555 - Cornelia de Lange syndrome 3

References:

Genes:

MONDO:0013864 - Cornelia de Lange syndrome 4

References:

Genes:

MONDO:0957921 - Cornelia de Lange syndrome 6

References:

Genes:

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

References:

Genes:

MONDO:0011503 - cortisone reductase deficiency 1

References:

Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0979883 - cranioectodermal dysplasia 6

References:

Genes:

MONDO:0958175 - craniofacial microsomia 1

References:

Genes:

MONDO:0011911 - craniolenticulosutural dysplasia

References:

Genes:

MONDO:0009902 - cutaneous porphyria

References:

Genes:

MONDO:0014706 - cutis laxa, autosomal dominant 3

References:

Genes:

MONDO:0009058 - cystathioninuria

References:

Genes:

MONDO:0009067 - cystinuria

References:

Genes:

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

References:

Genes:

MONDO:0024554 - D-2-hydroxyglutaric aciduria 1

References:

Genes:

MONDO:0013345 - d-2-hydroxyglutaric aciduria 2

References:

Genes:

MONDO:0013789 - DDOST-congenital disorder of glycosylation

References:

Genes:

MONDO:0010799 - deafness, aminoglycoside-induced

References:

Genes:

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

References:

Genes:

MONDO:0014392 - developmental and epileptic encephalopathy, 25

References:

Genes:

MONDO:0014593 - developmental and epileptic encephalopathy, 29

References:

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

References:

Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

References:

Genes:

MONDO:0010472 - developmental and epileptic encephalopathy, 36

References:

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

References:

Genes:

MONDO:0014647 - developmental and epileptic encephalopathy, 50

References:

Genes:

MONDO:0033364 - developmental and epileptic encephalopathy, 55

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

References:

Genes:

MONDO:0005503 - developmental disorder of mental health

References:

Genes:

MONDO:0005015 - diabetes mellitus

References:

Genes:

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

References:

Genes:

MONDO:0007205 - diaphyseal medullary stenosis-bone malignancy syndrome

References:

Genes:

MONDO:0012803 - diarrhea-vomiting due to trehalase deficiency

References:

Genes:

MONDO:0009107 - diastrophic dysplasia

References:

Genes:

MONDO:0013261 - dilated cardiomyopathy 1R

References:

Genes:

MONDO:0013262 - dilated cardiomyopathy 1S

References:

Genes:

MONDO:0002412 - disorder of glycogen metabolism

References:

Genes:

MONDO:0000351 - disorder of methionine catabolism

References:

Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

References:

Genes:

MONDO:0011686 - DNA ligase IV deficiency

References:

Genes:

MONDO:0010155 - Dorfman-Chanarin disease

References:

Genes:

MONDO:0011964 - DPAGT1-congenital disorder of glycosylation

References:

Genes:

MONDO:0013049 - DPM3-congenital disorder of glycosylation

References:

Genes:

MONDO:0009380 - Dubin-Johnson syndrome

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

References:

Genes:

MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

References:

Genes:

MONDO:0007495 - dystonia 5

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0020066 - Ehlers-Danlos syndrome

References:

Genes:

MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1

References:

Genes:

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

References:

Genes:

MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0958224 - encephalopathy, porphyria-related

References:

Genes:

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

References:

Genes:

MONDO:0012980 - endocrine-cerebro-osteodysplasia syndrome

References:

Genes:

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

References:

Genes:

MONDO:0033014 - erythrokeratodermia variabilis et progressiva 4

References:

Genes:

MONDO:0001676 - erythropoietic protoporphyria

References:

Genes:

MONDO:0014801 - even-plus syndrome

References:

Genes:

MONDO:0010526 - Fabry disease

References:

Genes:

MONDO:0100087 - familial Alzheimer disease

References:

Genes:

MONDO:0007100 - familial amyloid neuropathy

References:

Genes:

MONDO:0005439 - familial hypercholesterolemia

References:

Genes:

MONDO:0010926 - familial hypocalciuric hypercalcemia 3

References:

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

References:

Genes:

MONDO:0010066 - familial isolated congenital asplenia

References:

Genes:

MONDO:0008296 - familial porphyria cutanea tarda

References:

Genes:

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

References:

Genes:

MONDO:0019391 - Fanconi anemia

References:

Genes:

MONDO:0013248 - Fanconi anemia complementation group O

References:

Genes:

MONDO:0013499 - Fanconi anemia complementation group P

References:

Genes:

MONDO:0014108 - Fanconi anemia complementation group Q

References:

Genes:

MONDO:0014986 - Fanconi anemia complementation group R

References:

Genes:

MONDO:0014987 - Fanconi anemia complementation group U

References:

Genes:

MONDO:0014985 - Fanconi anemia complementation group V

References:

Genes:

MONDO:0015487 - fatal infantile encephalocardiomyopathy

References:

Genes:

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

References:

Genes:

MONDO:0018346 - ferro-cerebro-cutaneous syndrome

References:

Genes:

MONDO:0100101 - fetal akinesia deformation sequence 1

References:

Genes:

MONDO:0100104 - fetal akinesia deformation sequence 4

References:

Genes:

MONDO:0010590 - FG syndrome 1

References:

Genes:

MONDO:0700301 - Fischer-Zirnsak progeroid syndrome

References:

Genes:

MONDO:0007620 - fish eye disease

References:

Genes:

MONDO:0007621 - Floating-Harbor syndrome

References:

Genes:

MONDO:0012853 - Fontaine progeroid syndrome

References:

Genes:

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

References:

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011730 - fumaric aciduria

References:

Genes:

MONDO:0005775 - G6PD deficiency

References:

Genes:

MONDO:0013166 - GABA aminotransaminase deficiency

References:

Genes:

MONDO:0009255 - galactokinase deficiency

References:

Genes:

MONDO:0009257 - galactose epimerase deficiency

References:

Genes:

MONDO:0018116 - galactosemia

References:

Genes:

MONDO:0009737 - galactosialidosis

References:

Genes:

MONDO:0009285 - gamma-glutamyl transpeptidase deficiency

References:

Genes:

MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

References:

Genes:

MONDO:0800030 - gastrointestinal defects and immunodeficiency syndrome 1

References:

Genes:

MONDO:0030669 - gastrointestinal defects and immunodeficiency syndrome 2

References:

Genes:

MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0009890 - Gillessen-Kaesbach-Nishimura syndrome

References:

Genes:

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

References:

Genes:

MONDO:0009947 - glutathione synthetase deficiency with 5-oxoprolinuria

References:

Genes:

MONDO:0009284 - glutathione synthetase deficiency without 5-oxoprolinuria

References:

Genes:

MONDO:0011612 - glycine encephalopathy

References:

Genes:

MONDO:0958179 - glycine encephalopathy 1

References:

Genes:

MONDO:0958192 - glycine encephalopathy 2

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009290 - glycogen storage disease II

References:

Genes:

MONDO:0009294 - glycogen storage disease VI

References:

Genes:

MONDO:0009295 - glycogen storage disease VII

References:

Genes:

MONDO:0013291 - glycogen storage disease XV

References:

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

References:

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

References:

Genes:

MONDO:0060724 - glycosylphosphatidylinositol biosynthesis defect 17

References:

Genes:

MONDO:0029140 - glycosylphosphatidylinositol biosynthesis defect 18

References:

Genes:

MONDO:0011308 - GRACILE syndrome

References:

Genes:

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

References:

Genes:

MONDO:0005364 - Graves disease

References:

Genes:

MONDO:0008974 - Greenberg dysplasia

References:

Genes:

MONDO:0008962 - Griscelli syndrome type 1

References:

Genes:

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

References:

Genes:

MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

References:

Genes:

MONDO:0012999 - guanidinoacetate methyltransferase deficiency

References:

Genes:

MONDO:0008218 - Hailey-Hailey disease

References:

Genes:

MONDO:0030048 - harderoporphyria

References:

Genes:

MONDO:0009008 - heart defect - tongue hamartoma - polysyndactyly syndrome

References:

Genes:

MONDO:0011417 - hemochromatosis type 3

References:

Genes:

MONDO:0009113 - hemolytic anemia due to diphosphoglycerate mutase deficiency

References:

Genes:

MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

References:

Genes:

MONDO:0019531 - hemolytic anemia due to glutathione reductase deficiency

References:

Genes:

MONDO:0002520 - hepatic porphyria

References:

Genes:

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

References:

Genes:

MONDO:0007369 - hereditary coproporphyria

References:

Genes:

MONDO:0009238 - hereditary folate malabsorption

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0012787 - hereditary spastic paraplegia 39

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

References:

Genes:

MONDO:0014885 - Hermansky-Pudlak syndrome 10

References:

Genes:

MONDO:0011997 - Hermansky-Pudlak syndrome 2

References:

Genes:

MONDO:0009666 - holocarboxylase synthetase deficiency

References:

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

References:

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

References:

Genes:

MONDO:0030886 - holoprosencephaly 14

References:

Genes:

MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

References:

Genes:

MONDO:0004737 - homocystinuria

References:

Genes:

MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

References:

Genes:

MONDO:0014602 - Houge-Janssens syndrome 1

References:

Genes:

MONDO:0014605 - Houge-Janssens syndrome 2

References:

Genes:

MONDO:0032747 - hydatidiform mole, recurrent, 4

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011369 - hypercholesterolemia, autosomal dominant, 3

References:

Genes:

MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

References:

Genes:

MONDO:0044330 - hyperekplexia 4

References:

Genes:

MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

References:

Genes:

MONDO:0005803 - hyperinsulinemic hypoglycemia

References:

Genes:

MONDO:0011236 - hyperinsulinemic hypoglycemia, familial, 3

References:

Genes:

MONDO:0859362 - hyperinsulinemic hypoglycemia, familial, 8

References:

Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

References:

Genes:

MONDO:0009388 - hyperlysinemia

References:

Genes:

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

References:

Genes:

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

References:

Genes:

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

References:

Genes:

MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

References:

Genes:

MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

References:

Genes:

MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

References:

Genes:

MONDO:0009400 - hyperprolinemia type 1

References:

Genes:

MONDO:0009401 - hyperprolinemia type 2

References:

Genes:

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

References:

Genes:

MONDO:0100058 - hypervalinemia and hyperleucine-isoleucinemia

References:

Genes:

MONDO:0011174 - hyperzincemia with functional zinc depletion

References:

Genes:

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

References:

Genes:

MONDO:0009416 - hypoinsulinemic hypoglycemia and body hemihypertrophy

References:

Genes:

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

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0018570 - hypophosphatasia

References:

Genes:

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

References:

Genes:

MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

References:

Genes:

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

References:

Genes:

MONDO:0015713 - idiopathic central precocious puberty

References:

Genes:

MONDO:0009448 - iminoglycinuria

References:

Genes:

MONDO:0014353 - immunodeficiency 23

References:

Genes:

MONDO:0019214 - inborn carbohydrate metabolic disorder

References:

Genes:

MONDO:0004736 - inborn disorder of amino acid metabolism

References:

Genes:

MONDO:0019254 - inborn disorder of purine or pyrimidine metabolism

References:

Genes:

MONDO:0004069 - inborn mitochondrial metabolism disorder

References:

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

References:

Genes:

MONDO:0000688 - inborn organic aciduria

References:

Genes:

MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

References:

Genes:

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

References:

Genes:

MONDO:0013802 - infantile cerebellar-retinal degeneration

References:

Genes:

MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

References:

Genes:

MONDO:1010169 - infantile hypophosphatasia

References:

Genes:

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

References:

Genes:

MONDO:0017909 - inherited glutathione synthetase deficiency

References:

Genes:

MONDO:0019142 - inherited porphyria

References:

Genes:

MONDO:0032485 - intellectual developmental disorder 61

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

References:

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

References:

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

References:

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

References:

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

References:

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

References:

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

References:

Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

References:

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

References:

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

References:

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

References:

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

References:

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

References:

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

References:

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

References:

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

References:

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

References:

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

References:

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

References:

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

References:

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

References:

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0017052 - intermediate maple syrup urine disease

References:

Genes:

MONDO:0008939 - isolated cerebellar hypoplasia/agenesis

References:

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

References:

Genes:

MONDO:0009007 - Jalili syndrome

References:

Genes:

MONDO:0009622 - Jawad syndrome

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0010465 - Kabuki syndrome 2

References:

Genes:

MONDO:0013898 - karyomegalic interstitial nephritis

References:

Genes:

MONDO:0011706 - Kufor-Rakeb syndrome

References:

Genes:

MONDO:0006040 - lactic acidosis

References:

Genes:

MONDO:0006065 - lactose intolerance adult type

References:

Genes:

MONDO:0044792 - large congenital melanocytic nevus

References:

Genes:

MONDO:0011816 - lathosterolosis

References:

Genes:

MONDO:0009514 - Laurence-Moon syndrome

References:

Genes:

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

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

MONDO:0010298 - Lesch-Nyhan syndrome

References:

Genes:

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

References:

Genes:

MONDO:0009670 - lethal congenital contracture syndrome 1

References:

Genes:

MONDO:0012656 - lethal congenital contracture syndrome 3

References:

Genes:

MONDO:0009867 - lethal congenital glycogen storage disease of heart

References:

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

References:

Genes:

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

References:

Genes:

MONDO:0013740 - lethal occipital encephalocele-skeletal dysplasia syndrome

References:

Genes:

MONDO:0009953 - leukocyte adhesion deficiency type II

References:

Genes:

MONDO:0014632 - leukodystrophy, hypomyelinating, 10

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

References:

Genes:

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

References:

Genes:

MONDO:0008097 - linear nevus sebaceous syndrome

References:

Genes:

MONDO:0006573 - lipodystrophy

References:

Genes:

MONDO:0958023 - lipodystrophy, congenital generalized, type 5

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

References:

Genes:

MONDO:0014576 - lipoyl transferase 1 deficiency

References:

Genes:

MONDO:0014596 - lissencephaly 7 with cerebellar hypoplasia

References:

Genes:

MONDO:0012703 - lissencephaly due to TUBA1A mutation

References:

Genes:

MONDO:0018838 - lissencephaly spectrum disorders

References:

Genes:

MONDO:0009109 - lysinuric protein intolerance

References:

Genes:

MONDO:0002561 - lysosomal storage disease

References:

Genes:

MONDO:0011537 - macrocephaly-autism syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014157 - mandibular hypoplasia-deafness-progeroid syndrome

References:

Genes:

MONDO:0030880 - mandibuloacral dysplasia progeroid syndrome

References:

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

References:

Genes:

MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

References:

Genes:

MONDO:0009563 - maple syrup urine disease

References:

Genes:

MONDO:0014057 - maple syrup urine disease, mild variant

References:

Genes:

MONDO:0859147 - Marbach-Rustad progeroid syndrome

References:

Genes:

MONDO:0016814 - maternally-inherited Leigh syndrome

References:

Genes:

MONDO:0018911 - maturity-onset diabetes of the young

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0012251 - MEDNIK syndrome

References:

Genes:

MONDO:0011246 - megaconial type congenital muscular dystrophy

References:

Genes:

MONDO:0016817 - Meier-Gorlin syndrome

References:

Genes:

MONDO:0009143 - Meier-Gorlin syndrome 1

References:

Genes:

MONDO:0013428 - Meier-Gorlin syndrome 2

References:

Genes:

MONDO:0013430 - Meier-Gorlin syndrome 3

References:

Genes:

MONDO:0013431 - Meier-Gorlin syndrome 4

References:

Genes:

MONDO:0013432 - Meier-Gorlin syndrome 5

References:

Genes:

MONDO:0014894 - Meier-Gorlin syndrome 7

References:

Genes:

MONDO:0033046 - Meier-Gorlin syndrome 8

References:

Genes:

MONDO:0980992 - Meier-Gorlin syndrome 9

References:

Genes:

MONDO:0010651 - Menkes disease

References:

Genes:

MONDO:0000440 - metabolic acidosis

References:

Genes:

MONDO:0005066 - metabolic disease

References:

Genes:

MONDO:0018868 - metachromatic leukodystrophy

References:

Genes:

MONDO:0009598 - metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

References:

Genes:

MONDO:0009607 - methionine adenosyltransferase deficiency

References:

Genes:

MONDO:0009354 - methylcobalamin deficiency type cblE

References:

Genes:

MONDO:0009609 - methylcobalamin deficiency type cblG

References:

Genes:

MONDO:0010184 - methylmalonic aciduria and homocystinuria type cblC

References:

Genes:

MONDO:0012481 - mevalonic aciduria

References:

Genes:

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

References:

Genes:

MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

References:

Genes:

MONDO:0001149 - microcephaly

References:

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

References:

Genes:

MONDO:0054716 - microcephaly 19, primary, autosomal recessive

References:

Genes:

MONDO:0054761 - microcephaly 20, primary, autosomal recessive

References:

Genes:

MONDO:0054804 - microcephaly 21, primary, autosomal recessive

References:

Genes:

MONDO:0054806 - microcephaly 23, primary, autosomal recessive

References:

Genes:

MONDO:0032583 - microcephaly 24, primary, autosomal recessive

References:

Genes:

MONDO:0030339 - microcephaly 28, primary, autosomal recessive

References:

Genes:

MONDO:0031060 - microcephaly 29, primary, autosomal recessive

References:

Genes:

MONDO:0011488 - microcephaly 3, primary, autosomal recessive

References:

Genes:

MONDO:0859342 - microcephaly 30, primary, autosomal recessive

References:

Genes:

MONDO:0011437 - microcephaly 4, primary, autosomal recessive

References:

Genes:

MONDO:0009624 - microcephaly and chorioretinopathy 1

References:

Genes:

MONDO:0014592 - microcephaly and chorioretinopathy 3

References:

Genes:

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

References:

Genes:

MONDO:0980935 - microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia

References:

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0008787 - microcytic anemia with liver iron overload

References:

Genes:

MONDO:0010159 - mismatch repair cancer syndrome 1

References:

Genes:

MONDO:0030840 - mismatch repair cancer syndrome 2

References:

Genes:

MONDO:0030841 - mismatch repair cancer syndrome 3

References:

Genes:

MONDO:0030843 - mismatch repair cancer syndrome 4

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0980970 - mitochondrial complex 4 deficiency, nuclear type 25

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0032626 - mitochondrial complex I deficiency, nuclear type 22

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0015448 - mitochondrial complex III deficiency

References:

Genes:

MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

References:

Genes:

MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

References:

Genes:

MONDO:0014064 - mitochondrial complex III deficiency nuclear type 3

References:

Genes:

MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

References:

Genes:

MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

References:

Genes:

MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

References:

Genes:

MONDO:0014356 - mitochondrial complex III deficiency nuclear type 7

References:

Genes:

MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

References:

Genes:

MONDO:0014496 - mitochondrial complex III deficiency nuclear type 9

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0044970 - mitochondrial disease

References:

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

Genes:

MONDO:0018158 - mitochondrial DNA depletion syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0980967 - mitochondrial dna depletion syndrome 14A (encephalomyopathic type)

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0032815 - mitochondrial DNA depletion syndrome 17

References:

Genes:

MONDO:0032932 - mitochondrial DNA depletion syndrome 18

References:

Genes:

MONDO:0976132 - mitochondrial dna depletion syndrome 21

References:

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

Genes:

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

References:

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

Genes:

MONDO:0009504 - mitochondrial DNA depletion syndrome 9

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0016387 - mitochondrial oxidative phosphorylation disorder

References:

Genes:

MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

References:

Genes:

MONDO:0013877 - mitochondrial pyruvate carrier deficiency

References:

Genes:

MONDO:0011629 - MOGS-congenital disorder of glycosylation

References:

Genes:

MONDO:0015967 - monogenic diabetes

References:

Genes:

MONDO:0011257 - MPI-congenital disorder of glycosylation

References:

Genes:

MONDO:0018938 - mucopolysaccharidosis type 4

References:

Genes:

MONDO:0009661 - mucopolysaccharidosis type 6

References:

Genes:

MONDO:0015012 - mucopolysaccharidosis-plus syndrome

References:

Genes:

MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

References:

Genes:

MONDO:0015454 - multiple carboxylase deficiency

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009189 - multiple epiphyseal dysplasia type 4

References:

Genes:

MONDO:0009465 - multiple intestinal atresia

References:

Genes:

MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

References:

Genes:

MONDO:0975806 - multiple mitochondrial dysfunctions syndrome 10

References:

Genes:

MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

References:

Genes:

MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

References:

Genes:

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

References:

Genes:

MONDO:0033282 - multiple mitochondrial dysfunctions syndrome 5

References:

Genes:

MONDO:0054785 - multiple mitochondrial dysfunctions syndrome 6

References:

Genes:

MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

References:

Genes:

MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009992 - myoglobinuria, acute recurrent, autosomal recessive

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011577 - myopathy, proximal, and ophthalmoplegia

References:

Genes:

MONDO:0010686 - N syndrome

References:

Genes:

MONDO:0034121 - NAD(P)HX dehydratase deficiency

References:

Genes:

MONDO:0007943 - Nager acrofacial dysostosis

References:

Genes:

MONDO:0016391 - neonatal diabetes mellitus

References:

Genes:

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

References:

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

References:

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

References:

Genes:

MONDO:0011120 - neural tube defects, folate-sensitive

References:

Genes:

MONDO:0009578 - neurocutaneous melanocytosis

References:

Genes:

MONDO:0010476 - neurodegeneration with brain iron accumulation 5

References:

Genes:

MONDO:0014290 - neurodegeneration with brain iron accumulation 6

References:

Genes:

MONDO:0033642 - neurodevelopmental disorder with alopecia and brain abnormalities

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009744 - neuronal ceroid lipofuscinosis 1

References:

Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0008093 - nevus, epidermal

References:

Genes:

MONDO:0001982 - Niemann-Pick disease

References:

Genes:

MONDO:0009756 - Niemann-Pick disease type A

References:

Genes:

MONDO:0011871 - Niemann-Pick disease type B

References:

Genes:

MONDO:0011873 - Niemann-Pick disease, type C2

References:

Genes:

MONDO:0009623 - Nijmegen breakage syndrome

References:

Genes:

MONDO:0013118 - Nijmegen breakage syndrome-like disorder

References:

Genes:

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

References:

Genes:

MONDO:0018997 - Noonan syndrome

References:

Genes:

MONDO:0033669 - Noonan syndrome 13

References:

Genes:

MONDO:0012371 - Noonan syndrome 3

References:

Genes:

MONDO:0013186 - Noonan syndrome 6

References:

Genes:

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

References:

Genes:

MONDO:0009515 - Norum disease

References:

Genes:

MONDO:0010572 - occipital horn syndrome

References:

Genes:

MONDO:0009485 - oculocerebrofacial syndrome, Kaufman type

References:

Genes:

MONDO:0010645 - oculocerebrorenal syndrome

References:

Genes:

MONDO:0011683 - oculocutaneous albinism type 4

References:

Genes:

MONDO:0010457 - Ogden syndrome

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0014571 - optic atrophy 9

References:

Genes:

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

References:

Genes:

MONDO:0009796 - ornithine aminotransferase deficiency

References:

Genes:

MONDO:0010703 - ornithine carbamoyltransferase deficiency

References:

Genes:

MONDO:0009393 - ornithine translocase deficiency

References:

Genes:

MONDO:0013378 - orofacial cleft 10

References:

Genes:

MONDO:0009797 - orotic aciduria

References:

Genes:

MONDO:0012592 - osteogenesis imperfecta type 11

References:

Genes:

MONDO:0009805 - osteogenesis imperfecta type 9

References:

Genes:

MONDO:0030861 - osteogenesis imperfecta, type 21

References:

Genes:

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

References:

Genes:

MONDO:0008759 - oxoglutaricaciduria

References:

Genes:

MONDO:0859003 - PAICS deficiency

References:

Genes:

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

References:

Genes:

MONDO:0007858 - palmoplantar keratoderma, punctate type 1A

References:

Genes:

MONDO:0008416 - palmoplantar keratoderma-sclerodactyly syndrome

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

References:

Genes:

MONDO:0000448 - paraganglioma

References:

Genes:

MONDO:0010438 - paroxysmal nocturnal hemoglobinuria 1

References:

Genes:

MONDO:0014166 - paroxysmal nocturnal hemoglobinuria 2

References:

Genes:

MONDO:0009846 - pentosuria

References:

Genes:

MONDO:0009965 - Perlman syndrome

References:

Genes:

MONDO:0100165 - permanent neonatal diabetes mellitus 1

References:

Genes:

MONDO:0019053 - peroxisomal disease

References:

Genes:

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

References:

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

References:

Genes:

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

References:

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

References:

Genes:

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

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes:

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

References:

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

References:

Genes:

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

References:

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

References:

Genes:

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

References:

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

References:

Genes:

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

References:

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

References:

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

References:

Genes:

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

References:

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

References:

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

References:

Genes:

MONDO:0017312 - Perrault syndrome

References:

Genes:

MONDO:0013972 - Perrault syndrome 2

References:

Genes:

MONDO:0014126 - Perrault syndrome 4

References:

Genes:

MONDO:0976232 - Perrault syndrome 7

References:

Genes:

MONDO:0013968 - PGM1-congenital disorder of glycosylation

References:

Genes:

MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

References:

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

References:

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

References:

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

References:

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

References:

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma syndrome 7

References:

Genes:

MONDO:0011152 - PHGDH deficiency

References:

Genes:

MONDO:0010395 - phosphoribosylpyrophosphate synthetase superactivity

References:

Genes:

MONDO:0002470 - photosensitive trichothiodystrophy

References:

Genes:

MONDO:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0060568 - Pilarowski-Bjornsson syndrome

References:

Genes:

MONDO:0008907 - PMM2-congenital disorder of glycosylation

References:

Genes:

MONDO:0014526 - polyglucosan body myopathy type 2

References:

Genes:

MONDO:0020135 - pontocerebellar hypoplasia

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0014349 - pontocerebellar hypoplasia type 10

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0010190 - pontocerebellar hypoplasia type 2A

References:

Genes:

MONDO:0012890 - pontocerebellar hypoplasia type 2B

References:

Genes:

MONDO:0012891 - pontocerebellar hypoplasia type 2C

References:

Genes:

MONDO:0014370 - pontocerebellar hypoplasia type 2E

References:

Genes:

MONDO:0009166 - pontocerebellar hypoplasia type 4

References:

Genes:

MONDO:0012438 - pontocerebellar hypoplasia type 5

References:

Genes:

MONDO:0012683 - pontocerebellar hypoplasia type 6

References:

Genes:

MONDO:0013990 - pontocerebellar hypoplasia type 8

References:

Genes:

MONDO:0014351 - pontocerebellar hypoplasia type 9

References:

Genes:

MONDO:0032643 - pontocerebellar hypoplasia, type 12

References:

Genes:

MONDO:0032831 - pontocerebellar hypoplasia, type 13

References:

Genes:

MONDO:0030258 - pontocerebellar hypoplasia, type 14

References:

Genes:

MONDO:0030259 - pontocerebellar hypoplasia, type 15

References:

Genes:

MONDO:0030438 - pontocerebellar hypoplasia, type 16

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0054844 - pontocerebellar hypoplasia, type 1D

References:

Genes:

MONDO:0030261 - pontocerebellar hypoplasia, type 1F

References:

Genes:

MONDO:0014874 - pontocerebellar hypoplasia, type 2F

References:

Genes:

MONDO:0008293 - porokeratosis 3, disseminated superficial actinic type

References:

Genes:

MONDO:0013868 - porokeratosis 7, multiple types

References:

Genes:

MONDO:0014713 - porokeratosis 9, multiple types

References:

Genes:

MONDO:0015104 - porphyria cutanea tarda

References:

Genes:

MONDO:0013000 - porphyria due to ALA dehydratase deficiency

References:

Genes:

MONDO:0009903 - postaxial acrofacial dysostosis

References:

Genes:

MONDO:0014909 - primary ciliary dyskinesia 34

References:

Genes:

MONDO:0014754 - primary coenzyme Q10 deficiency 8

References:

Genes:

MONDO:0002474 - primary hyperoxaluria

References:

Genes:

MONDO:0009824 - primary hyperoxaluria type 2

References:

Genes:

MONDO:0013382 - progressive demyelinating neuropathy with bilateral striatal necrosis

References:

Genes:

MONDO:0005181 - progressive external ophthalmoplegia

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011156 - progressive familial intrahepatic cholestasis type 2

References:

Genes:

MONDO:0011214 - progressive familial intrahepatic cholestasis type 3

References:

Genes:

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

References:

Genes:

MONDO:0008318 - Proteus syndrome

References:

Genes:

MONDO:0008319 - protoporphyria, erythropoietic, 1

References:

Genes:

MONDO:0012596 - PSAT deficiency

References:

Genes:

MONDO:0011301 - pseudohypoparathyroidism type 1B

References:

Genes:

MONDO:0013531 - PSPH deficiency

References:

Genes:

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

References:

Genes:

MONDO:0017623 - PTEN hamartoma tumor syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013171 - purine nucleoside phosphorylase deficiency

References:

Genes:

MONDO:0013755 - PYCR1-related de Barsy syndrome

References:

Genes:

MONDO:0012407 - pyridoxal phosphate-responsive seizures

References:

Genes:

MONDO:0009949 - pyruvate carboxylase deficiency disease

References:

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

References:

Genes:

MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

References:

Genes:

MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

References:

Genes:

MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

References:

Genes:

MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

References:

Genes:

MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

References:

Genes:

MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

References:

Genes:

MONDO:0009950 - pyruvate kinase deficiency of red cells

References:

Genes:

MONDO:0007067 - pyruvate kinase hyperactivity

References:

Genes:

MONDO:0013624 - Rafiq syndrome

References:

Genes:

MONDO:0009955 - rapadilino syndrome

References:

Genes:

MONDO:0021060 - RASopathy

References:

Genes:

MONDO:0001909 - renal tubular acidosis

References:

Genes:

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

References:

Genes:

MONDO:0800042 - restrictive dermopathy 1

References:

Genes:

MONDO:0013468 - retinitis pigmentosa 59

References:

Genes:

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

References:

Genes:

MONDO:0012783 - RFT1-congenital disorder of glycosylation

References:

Genes:

MONDO:0008383 - rheumatoid arthritis

References:

Genes:

MONDO:0015776 - rhizomelic chondrodysplasia punctata

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0012073 - ribose-5-P isomerase deficiency

References:

Genes:

MONDO:0009998 - Richieri Costa-Pereira syndrome

References:

Genes:

MONDO:0009131 - Riley-Day syndrome

References:

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

References:

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

References:

Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

References:

Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

References:

Genes:

MONDO:0011449 - Salla disease

References:

Genes:

MONDO:0005090 - schizophrenia

References:

Genes:

MONDO:0013498 - schizophrenia 15

References:

Genes:

MONDO:0010013 - schneckenbecken dysplasia

References:

Genes:

MONDO:0008922 - Sengers syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0600009 - severe hypophosphatasia

References:

Genes:

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

References:

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

References:

Genes:

MONDO:0018767 - severe primary trimethylaminuria

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0010028 - sialuria

References:

Genes:

MONDO:0014804 - sideroblastic anemia 3

References:

Genes:

MONDO:0020747 - sitosterolemia 1

References:

Genes:

MONDO:0020748 - sitosterolemia 2

References:

Genes:

MONDO:0054636 - Skraban-Deardorff syndrome

References:

Genes:

MONDO:0010478 - SLC35A2-congenital disorder of glycosylation

References:

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

References:

Genes:

MONDO:0010035 - Smith-Lemli-Opitz syndrome

References:

Genes:

MONDO:0012664 - spastic ataxia 3

References:

Genes:

MONDO:0013354 - spastic ataxia 4

References:

Genes:

MONDO:0013776 - spastic ataxia 5

References:

Genes:

MONDO:0014803 - spasticity-ataxia-gait anomalies syndrome

References:

Genes:

MONDO:0008449 - spina bifida

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0016163 - spinocerebellar ataxia 7

References:

Genes:

MONDO:0011330 - spinocerebellar ataxia type 10

References:

Genes:

MONDO:0011439 - spinocerebellar ataxia type 12

References:

Genes:

MONDO:0011781 - spinocerebellar ataxia type 17

References:

Genes:

MONDO:0008458 - spinocerebellar ataxia type 2

References:

Genes:

MONDO:0012246 - spinocerebellar ataxia type 26

References:

Genes:

MONDO:0012450 - spinocerebellar ataxia type 28

References:

Genes:

MONDO:0007574 - spinocerebellar ataxia type 34

References:

Genes:

MONDO:0013594 - spinocerebellar ataxia type 36

References:

Genes:

MONDO:0014417 - spinocerebellar ataxia type 38

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0016576 - split hand-foot malformation

References:

Genes:

MONDO:0019675 - spondyloepimetaphyseal dysplasia with joint laxity

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations

References:

Genes:

MONDO:0958006 - spondyloepimetaphyseal dysplasia, Guo-Campeau type

References:

Genes:

MONDO:0032885 - spondyloepimetaphyseal dysplasia, Isidor-Toutain type

References:

Genes:

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type

References:

Genes:

MONDO:0008471 - spondyloepiphyseal dysplasia congenita

References:

Genes:

MONDO:0010737 - spondyloepiphyseal dysplasia tarda, X-linked

References:

Genes:

MONDO:0979899 - spondyloepiphyseal dysplasia, Holling type

References:

Genes:

MONDO:0009593 - spondylometaphyseal dysplasia, Sedaghatian type

References:

Genes:

MONDO:0012885 - SRD5A3-congenital disorder of glycosylation

References:

Genes:

MONDO:0003122 - striatonigral degeneration

References:

Genes:

MONDO:0014889 - striatonigral degeneration, childhood-onset

References:

Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

References:

Genes:

MONDO:0014270 - STT3A-congenital disorder of glycosylation

References:

Genes:

MONDO:0014271 - STT3B-congenital disorder of glycosylation

References:

Genes:

MONDO:0010083 - succinic semialdehyde dehydrogenase deficiency

References:

Genes:

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

References:

Genes:

MONDO:0030982 - sulfide quinone oxidoreductase deficiency

References:

Genes:

MONDO:0980701 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2

References:

Genes:

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

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0100137 - telomere syndrome

References:

Genes:

MONDO:0008542 - tetralogy of fallot

References:

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

References:

Genes:

MONDO:0013870 - TMEM165-congenital disorder of glycosylation

References:

Genes:

MONDO:0014790 - TMEM199-CDG

References:

Genes:

MONDO:0011624 - transaldolase deficiency

References:

Genes:

MONDO:0014881 - transketolase deficiency

References:

Genes:

MONDO:0013385 - Treacher Collins syndrome 2

References:

Genes:

MONDO:0009558 - Treacher Collins syndrome 3

References:

Genes:

MONDO:0030067 - Treacher Collins syndrome 4

References:

Genes:

MONDO:0002457 - Treacher-Collins syndrome

References:

Genes:

MONDO:0011125 - trichothiodystrophy 1, photosensitive

References:

Genes:

MONDO:0014615 - trichothiodystrophy 2, photosensitive

References:

Genes:

MONDO:0014619 - trichothiodystrophy 3, photosensitive

References:

Genes:

MONDO:0014221 - triosephosphate isomerase deficiency

References:

Genes:

MONDO:0008016 - trismus-pseudocamptodactyly syndrome

References:

Genes:

MONDO:0005148 - type 2 diabetes mellitus

References:

Genes:

MONDO:0018614 - undetermined early-onset epileptic encephalopathy

References:

Genes:

MONDO:0004739 - urea cycle disorder

References:

Genes:

MONDO:0015797 - UV-sensitive syndrome

References:

Genes:

MONDO:0010909 - UV-sensitive syndrome 1

References:

Genes:

MONDO:0013829 - UV-sensitive syndrome 2

References:

Genes:

MONDO:0008297 - variegate porphyria

References:

Genes:

MONDO:0957577 - variegate porphyria, childhood-onset

References:

Genes:

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

References:

Genes:

MONDO:0008695 - VPS13A-related neurodegenerative disease

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0013252 - Warsaw breakage syndrome

References:

Genes:

MONDO:0010196 - Werner syndrome

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0010200 - Wilson disease

References:

Genes:

MONDO:0009192 - Wolcott-Rallison syndrome

References:

Genes:

MONDO:0019148 - Wolman disease

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

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

References:

Genes:

MONDO:0010420 - X-linked erythropoietic protoporphyria

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0020721 - X-linked sideroblastic anemia 1

References:

Genes:

MONDO:0010524 - X-linked sideroblastic anemia with ataxia

References:

Genes:

MONDO:0019600 - xeroderma pigmentosum

References:

Genes:

MONDO:0010210 - xeroderma pigmentosum group A

References:

Genes:

MONDO:0012531 - xeroderma pigmentosum group B

References:

Genes:

MONDO:0010211 - xeroderma pigmentosum group C

References:

Genes:

MONDO:0010212 - xeroderma pigmentosum group D

References:

Genes:

MONDO:0010215 - xeroderma pigmentosum group F

References:

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

References:

Genes:

MONDO:0010214 - xeroderma pigmentosum variant type

References:

Genes:

MONDO:0980987 - xeroderma pigmentosum, complementation group J

References:

Genes:

MONDO:0012590 - XFE progeroid syndrome

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes:

MONDO:0014936 - ZTTK syndrome

References:

Genes: