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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7147
Name:	Methylmalonate Semialdehyde Dehydrogenase Deficiency
Definition:
Alternative IDs:
ParentIDs:	MESH:D000592\|MESH:D011686
TreeNumbers:	C16.320.565.100/C566402 \|C16.320.565.798/C566402 \|C18.452.648.100/C566402 \|C18.452.648.798/C566402
Synonyms:	MMSDH Deficiency
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: C566402 MeSH: C566402 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants