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: inherited deficiency anemia (MONDO:0016624)
Parent Node: megaloblastic anemia (disease) (MONDO:0001700)
..Starting node ..vitamin B12- and folate-independent constitutional megaloblastic anemia ()
Child Nodes:
........hypoxanthine-guanine phosphoribosyltransferase deficiency ()
........orotic aciduria ()
........thiamine-responsive megaloblastic anemia syndrome ()
Sister Nodes:
..constitutional megaloblastic anemia due to folate metabolism disorder ()
..constitutional megaloblastic anemia due to vitamin B12 metabolism disorder ()
..pernicious anemia ()
..vitamin B12- and folate-independent constitutional megaloblastic anemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20112
Name:	vitamin B12- and folate-independent constitutional megaloblastic anemia
Definition:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal