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: anemia (disease) (MONDO:0002280)
Parent Node: inherited hemoglobinopathy (MONDO:0019050)
..Starting node ..hemoglobin E disease ()
Child Nodes:
Sister Nodes:
..alpha thalassemia-intellectual disability syndrome type 1 ()
..alpha thalassemia-X-linked intellectual disability syndrome ()
..beta-thalassemia and related diseases ()
..congenital nonspherocytic hemolytic anemia ()
..hemoglobin C disease ()
..hemoglobin D disease ()
..hemoglobin E disease ()
..hemoglobin M disease ()
..hemoglobinopathy Toms River ()
..hereditary methemoglobinemia ()
..hereditary persistence of fetal hemoglobin ()
..methemoglobinemia, alpha type ()
..sickle cell disease and related diseases ()
..thalassemia ()
..unstable hemoglobin disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16243
Name:	hemoglobin E disease
Definition:	Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Hb-E disease; hemoglobin E disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal