OBO ID: DOID:0111048
Term Name: platelet-type bleeding disorder 19 Search Ontology:
Synonyms:
  • BDPLT19
  • severe autosomal recessive macrothrombocytopenia
Definition: A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/25061177
References:
Ontology: Human Disease   ( DOID:0111048 )
Relationships
is a type of:
OTHER platelet-type bleeding disorder 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRKACG ?Bleeding disorder, platelet-type, 19
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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