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Disease association ontology term - MONDO:0019052 - inborn errors of metabolism

Term summary

ID
MONDO:0019052
Name
inborn errors of metabolism
Ontology or CV name
Disease association
Definition
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.

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:0009825 - 5-oxoprolinase deficiency

References:

Genes:

MONDO:0014352 - abdominal obesity-metabolic syndrome 3

References:

Genes:

MONDO:0013571 - acatalasia

References:

Genes:

MONDO:0010966 - achondrogenesis type IB

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: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:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0012282 - Al-Gazali syndrome

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

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:0011790 - Amish lethal microcephaly

References:

Genes:

MONDO:0971004 - amyloidosis, hereditary systemic 1

References:

Genes:

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

References:

Genes:

MONDO:0009025 - apparent mineralocorticoid excess

References:

Genes:

MONDO:0008814 - arginase deficiency

References:

Genes:

MONDO:0008815 - argininosuccinic aciduria

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:0014248 - autism spectrum disorder - epilepsy - arthrogryposis syndrome

References:

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

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:

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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:0011422 - autosomal recessive proximal renal tubular acidosis

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:0009376 - carbamoyl phosphate synthetase I deficiency disease

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:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

Genes:

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

References:

Genes:

MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia 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: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:0010221 - CHIME 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:0009528 - chylomicron retention disease

References:

Genes:

MONDO:0015991 - citrullinemia

References:

Genes:

MONDO:0008988 - citrullinemia type I

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: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: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: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: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: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:

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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:

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MONDO:0957820 - congenital disorder of glycosylation, type IIbb

References:

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MONDO:0980705 - congenital disorder of glycosylation, type IIcc

References:

Genes:

MONDO:0054559 - congenital disorder of glycosylation, type IIq

References:

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MONDO:0859356 - congenital disorder of glycosylation, type IIy

References:

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MONDO:0859357 - congenital disorder of glycosylation, type IIz

References:

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

References:

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MONDO:0009134 - congenital dyserythropoietic anemia type 2

References:

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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:0014543 - congenital myasthenic syndrome 14

References:

Genes:

MONDO:0014542 - congenital myasthenic syndrome 15

References:

Genes:

MONDO:0009114 - congenital sucrase-isomaltase deficiency

References:

Genes:

MONDO:0011503 - cortisone reductase deficiency 1

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:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

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:

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MONDO:0002412 - disorder of glycogen metabolism

References:

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MONDO:0000351 - disorder of methionine catabolism

References:

Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

References:

Genes:

MONDO:0010155 - Dorfman-Chanarin disease

References:

Genes:

MONDO:0011964 - DPAGT1-congenital disorder of glycosylation

References:

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

References:

Genes:

MONDO:0009380 - Dubin-Johnson syndrome

References:

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MONDO:0007495 - dystonia 5

References:

Genes:

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

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

References:

Genes:

MONDO:0001676 - erythropoietic protoporphyria

References:

Genes:

MONDO:0010526 - Fabry disease

References:

Genes:

MONDO:0007100 - familial amyloid neuropathy

References:

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MONDO:0005439 - familial hypercholesterolemia

References:

Genes:

MONDO:0010926 - familial hypocalciuric hypercalcemia 3

References:

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

References:

Genes:

MONDO:0008296 - familial porphyria cutanea tarda

References:

Genes:

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

References:

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MONDO:0019391 - Fanconi anemia

References:

Genes:

MONDO:0013248 - Fanconi anemia complementation group O

References:

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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:0007620 - fish eye disease

References:

Genes:

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

References:

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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:

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MONDO:0009737 - galactosialidosis

References:

Genes:

MONDO:0009285 - gamma-glutamyl transpeptidase deficiency

References:

Genes:

MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

References:

Genes:

MONDO:0009890 - Gillessen-Kaesbach-Nishimura 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:

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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: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:0030048 - harderoporphyria

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: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: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:0004737 - homocystinuria

References:

Genes:

MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

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

References:

Genes:

MONDO:0018570 - hypophosphatasia

References:

Genes:

MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

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: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:0017909 - inherited glutathione synthetase deficiency

References:

Genes:

MONDO:0019142 - inherited porphyria

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: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:0017052 - intermediate maple syrup urine disease

References:

Genes:

MONDO:0013898 - karyomegalic interstitial nephritis

References:

Genes:

MONDO:0011706 - Kufor-Rakeb syndrome

References:

Genes:

MONDO:0006065 - lactose intolerance adult type

References:

Genes:

MONDO:0011816 - lathosterolosis

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

MONDO:0010298 - Lesch-Nyhan syndrome

References:

Genes:

MONDO:0009867 - lethal congenital glycogen storage disease of heart

References:

Genes:

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

References:

Genes:

MONDO:0009953 - leukocyte adhesion deficiency type II

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: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:0009109 - lysinuric protein intolerance

References:

Genes:

MONDO:0002561 - lysosomal storage disease

References:

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

References:

Genes:

MONDO:0009563 - maple syrup urine disease

References:

Genes:

MONDO:0014057 - maple syrup urine disease, mild variant

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:0010651 - Menkes disease

References:

Genes:

MONDO:0018868 - metachromatic leukodystrophy

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:0014793 - microcephaly-congenital cataract-psoriasiform dermatitis 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: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: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:0034121 - NAD(P)HX dehydratase deficiency

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: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: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: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:0009515 - Norum disease

References:

Genes:

MONDO:0010572 - occipital horn syndrome

References:

Genes:

MONDO:0010645 - oculocerebrorenal syndrome

References:

Genes:

MONDO:0011683 - oculocutaneous albinism type 4

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0009796 - ornithine aminotransferase deficiency

References:

Genes:

MONDO:0010703 - ornithine carbamoyltransferase deficiency

References:

Genes:

MONDO:0009393 - ornithine translocase deficiency

References:

Genes:

MONDO:0009797 - orotic aciduria

References:

Genes:

MONDO:0008759 - oxoglutaricaciduria

References:

Genes:

MONDO:0859003 - PAICS deficiency

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

References:

Genes:

MONDO:0009846 - pentosuria

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:0011152 - PHGDH deficiency

References:

Genes:

MONDO:0010395 - phosphoribosylpyrophosphate synthetase superactivity

References:

Genes:

MONDO:0002470 - photosensitive trichothiodystrophy

References:

Genes:

MONDO:0008907 - PMM2-congenital disorder of glycosylation

References:

Genes:

MONDO:0014526 - polyglucosan body myopathy type 2

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0012683 - pontocerebellar hypoplasia type 6

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0013000 - porphyria due to ALA dehydratase deficiency

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

References:

Genes:

MONDO:0013171 - purine nucleoside phosphorylase deficiency

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

References:

Genes:

MONDO:0012783 - RFT1-congenital disorder of glycosylation

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:0011449 - Salla disease

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:0600009 - severe hypophosphatasia

References:

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

References:

Genes:

MONDO:0018767 - severe primary trimethylaminuria

References:

Genes:

MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

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:0010478 - SLC35A2-congenital disorder of glycosylation

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:0012450 - spinocerebellar ataxia type 28

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

References:

Genes:

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 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: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: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: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:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0010200 - Wilson disease

References:

Genes:

MONDO:0019148 - Wolman disease

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0010420 - X-linked erythropoietic protoporphyria

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0020721 - X-linked sideroblastic anemia 1

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:0019609 - Zellweger spectrum disorders

References:

Genes: