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)
..Starting node ..hypochromic anemia (disease) ()
Child Nodes:
........hypochromic microcytic anemia (disease) ()
Sister Nodes:
..alpha-thalassemia and related diseases ()
..anemia due to chronic disorder ()
..anemia due to enzyme disorder ()
..aplastic anemia ()
..beta-thalassemia and related diseases ()
..congenital anemia ()
..constitutional dyserythropoietic anemia ()
..deficiency anemia ()
..hemoglobin C disease ()
..hemoglobin D disease ()
..hemoglobin E disease ()
..hemoglobin M disease ()
..hemoglobinopathy Toms River ()
..hereditary methemoglobinemia ()
..hypochromic anemia (disease) ()
..macrocytic anemia (disease) ()
..microcytic anemia ()
..neonatal anemia ()
..normocytic anemia ()
..pancytopenia ()
..pure red-cell aplasia ()
..sickle cell disease and related diseases ()
..sideroblastic anemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1357
Name:	hypochromic anemia (disease)
Definition:	Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	anemia hypochromic; hypochromic anemia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal