MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inborn errors of metabolism (MONDO:0019052)
Parent Node: vitamin deficiency disorder (MONDO:0024298)
..Starting node ..inborn vitamin metabolic disorder ()
Child Nodes:
........cerebral folate deficiency ()
........constitutional megaloblastic anemia due to folate metabolism disorder ()
........familial isolated deficiency of vitamin E ()
........inborn disorder of pyridoxine metabolism ()
........inborn error of biotin metabolism ()
........inborn vitamin B12 deficiency (disease) ()
........neurodegenerative syndrome due to cerebral folate transport deficiency ()
Sister Nodes:
..inborn vitamin metabolic disorder ()
..nutritional biotin deficiency ()
..scurvy ()
..vitamin A deficiency (disease) ()
..vitamin B deficiency ()
..vitamin K deficiency hemorrhagic disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5528
Name:	inborn vitamin metabolic disorder
Definition:	An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of vitamin metabolic process; inborn vitamin metabolic process disorder; rare inborn error of vitamin metabolic process; rare inborn error of vitamin metabolic process; vitamin metabolic disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal