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Metadata
ID DOID:0061331
PURL http://purl.obolibrary.org/obo/DOID_0061331 Copy
Name platelet-type bleeding disorder 25
Definition A blood platelet disease characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets and that has_material_basis_in heterozygous mutation in the TPM4 gene on chromosome 19p13.12-p13.11.
https://pubmed.ncbi.nlm.nih.gov/28134622/, https://pubmed.ncbi.nlm.nih.gov/35170221/, https://pubmed.ncbi.nlm.nih.gov/34758189/
Xrefs

MIM:620486

ORDO:140957

UMLS_CUI:C4304021

SKOS

narrowMatch ORDO:140957

narrowMatch UMLS_CUI:C4304021

Subsets

DO_rare_slim

Synonyms

BDPLT25 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a blood platelet disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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