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: alpha thalassemia (MONDO:0011399)
Parent Node: congenital anemia (MONDO:0000577)
Parent Node: non-immune hydrops fetalis (MONDO:0009369)
..Starting node ..Hb Bart's hydrops fetalis ()
Child Nodes:
Sister Nodes:
..Hb Bart's hydrops fetalis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15579
Name:	Hb Bart's hydrops fetalis
Definition:	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Alpha-thalassemia hydrops fetalis; Alpha-thalassemia major; Hemoglobin Bart's hydrops fetalis; homozygous alpha0-thalassemia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal