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Disease association ontology term - MONDO:0015327 - developmental anomaly of metabolic origin

Term summary

ID
MONDO:0015327
Name
developmental anomaly of metabolic origin
Ontology or CV name
Disease association

Parents

Annotation

Disease association

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

References:

Genes:

MONDO:1010154 - adult hypophosphatasia

References:

Genes:

MONDO:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0012282 - Al-Gazali syndrome

References:

Genes:

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

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:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1

References:

Genes:

MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

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: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:0008858 - Behr syndrome

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

References:

Genes:

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

References:

Genes:

MONDO:0010621 - CHILD syndrome

References:

Genes:

MONDO:1010168 - childhood hypophosphatasia

References:

Genes:

MONDO:0010221 - CHIME syndrome

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: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:0957992 - combined oxidative phosphorylation deficiency 59

References:

Genes:

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

References:

Genes:

MONDO:0014706 - cutis laxa, autosomal dominant 3

References:

Genes:

MONDO:0010799 - deafness, aminoglycoside-induced

References:

Genes:

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

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

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

References:

Genes:

MONDO:0010526 - Fabry disease

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:0011730 - fumaric aciduria

References:

Genes:

MONDO:0009737 - galactosialidosis

References:

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

References:

Genes:

MONDO:0008974 - Greenberg dysplasia

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

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

References:

Genes:

MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

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

References:

Genes:

MONDO:0018570 - hypophosphatasia

References:

Genes:

MONDO:0004069 - inborn mitochondrial metabolism disorder

References:

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

References:

Genes:

MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

References:

Genes:

MONDO:1010169 - infantile hypophosphatasia

References:

Genes:

MONDO:0011816 - lathosterolosis

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

References:

Genes:

MONDO:0014576 - lipoyl transferase 1 deficiency

References:

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

References:

Genes:

MONDO:0016814 - maternally-inherited Leigh syndrome

References:

Genes:

MONDO:0012481 - mevalonic aciduria

References:

Genes:

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

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: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: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:0001586 - mucopolysaccharidosis type 1

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

References:

Genes:

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

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:0009623 - Nijmegen breakage syndrome

References:

Genes:

MONDO:0013118 - Nijmegen breakage syndrome-like disorder

References:

Genes:

MONDO:0010572 - occipital horn syndrome

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0008759 - oxoglutaricaciduria

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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: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: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:0014754 - primary coenzyme Q10 deficiency 8

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:0011301 - pseudohypoparathyroidism type 1B

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:0012783 - RFT1-congenital disorder of glycosylation

References:

Genes:

MONDO:0008922 - Sengers syndrome

References:

Genes:

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

References:

Genes:

MONDO:0600009 - severe hypophosphatasia

References:

Genes:

MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

References:

Genes:

MONDO:0014804 - sideroblastic anemia 3

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:0014881 - transketolase deficiency

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes: