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 ..pure red-cell aplasia ()
Child Nodes:
........adult pure red cell aplasia ()
........Diamond-Blackfan anemia ()
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:	1705
Name:	pure red-cell aplasia
Definition:	A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	PRCA; primary red cell aplasia; pure red cell aplasia; red cell hypoplasia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal