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Metadata
ID DOID:0090118
Name congenital amegakaryocytic thrombocytopenia
Definition A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/29191945, https://www.ncbi.nlm.nih.gov/pubmed/29384262, https://www.omim.org/entry/604498
Xrefs

GARD:640

MESH:C535982

NCI:C115207

OMIM:604498

ORDO:3319

SNOMEDCT_US_2023_03_01:716336002

UMLS_CUI:C1327915

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CAMT [EXACT]

congenital amegakaryocytic thrombocytopenic purpura [EXACT]

Parent Relationships

is_a thrombocytopenia

is_a physical disorder

is_a autosomal recessive disease

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