| 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 |
SNOMEDCT_US_2023_03_01:716336002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CAMT [EXACT] congenital amegakaryocytic thrombocytopenic purpura [EXACT] |
| Parent Relationships |
is_a thrombocytopenia is_a physical disorder |