Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
Synonyms	PLATELET DISORDER, ASPIRIN-LIKE
ID	http://purl.bioontology.org/ontology/OMIM/601399
altLabel	PLATELET DISORDER, ASPIRIN-LIKE THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA FPDMM FPD/AML
cui	C1832388
Gene Locus	21q22.3
Gene Symbol	CBFA2 RUNX1 AML1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU020407 http://purl.bioontology.org/ontology/OMIM/MTHU020409 http://purl.bioontology.org/ontology/OMIM/MTHU020390 http://purl.bioontology.org/ontology/OMIM/MTHU002415 http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU013400 http://purl.bioontology.org/ontology/OMIM/MTHU029172 http://purl.bioontology.org/ontology/OMIM/MTHU020410 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU020408 http://purl.bioontology.org/ontology/OMIM/MTHU020406 http://purl.bioontology.org/ontology/OMIM/MTHU038527 http://purl.bioontology.org/ontology/OMIM/MTHU009115 http://purl.bioontology.org/ontology/OMIM/MTHU006269
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601399
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563324	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563324	Medical Subject Headings	LOOM