Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/605735 http://purl.bioontology.org/ontology/OMIM/605735
Preferred Name	BLEEDING DISORDER, PLATELET-TYPE, 12
Synonyms	PGHS1 DEFICIENCY PLATELET CYCLOOXYGENASE 1 DEFICIENCY PLATELET COX1 DEFICIENCY PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET BDPLT12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PGHS1 DEFICIENCY PLATELET CYCLOOXYGENASE 1 DEFICIENCY PLATELET COX1 DEFICIENCY PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET BDPLT12
prefLabel	BLEEDING DISORDER, PLATELET-TYPE, 12
Scope Statement	Congenital onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU006824 http://purl.bioontology.org/ontology/OMIM/MTHU029480 http://purl.bioontology.org/ontology/OMIM/MTHU029481 http://purl.bioontology.org/ontology/OMIM/MTHU029479 http://purl.bioontology.org/ontology/OMIM/MTHU012226 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU029482 http://purl.bioontology.org/ontology/OMIM/MTHU037874 http://purl.bioontology.org/ontology/OMIM/MTHU036809 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	605735
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2751535
OMIM Entry Type	5
OMIM MimType Value	perc

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