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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

Disease Browser
Parent Node: Anemia, Hemolytic, Congenital (D000745)
..Starting node ..Transient erythroblastopenia of childhood (C536980)
Child Nodes:
Sister Nodes:
..Anemia, Dyserythropoietic, Congenital (D000742) 5
..Anemia, Hemolytic, Congenital Nonspherocytic (D000746) 5
..Anemia, hereditary spherocytic hemolytic (C536356)
..Anemia, Sickle Cell (D000755) 3
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..Elliptocytosis, Hereditary (D004612) 11
..Glucosephosphate Dehydrogenase Deficiency (D005955) 3
..Heinz Body Anemias (C563030)
..Hemoglobin C Disease (D006445) 1
..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..Red cell phospholipid defect with hemolysis (C535298)
..Rh-Null Disease, Amorph Type (C566210)
..Spherocytosis, Hereditary (D013103) 5
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Thalassemia (D013789) 16
..Transient erythroblastopenia of childhood (C536980)
..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
..Xerocytosis, hereditary (C536764)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11201

Name:

Transient erythroblastopenia of childhood

Definition:

Alternative IDs:

OMIM:227050

ParentIDs:

MESH:D000745

TreeNumbers:

C15.378.071.141.150/C536980 |C16.320.070/C536980

Synonyms:

Erythroblastopenia, transient |Familial transient erythroblastopenia of childhood |TEC

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C536980
MeSH: C536980
OMIM: 227050;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005510	Transient erythroblastopenia

Disease Causing ClinVar Variants