Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616176 http://purl.bioontology.org/ontology/OMIM/616176
Preferred Name	BLEEDING DISORDER, PLATELET-TYPE, 19
Synonyms	BDPLT19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BDPLT19
prefLabel	BLEEDING DISORDER, PLATELET-TYPE, 19
Gene Symbol	BDPLT19 PRKACG
Scope Statement	Onset in early childhood [MISCELLANEOUS] One consanguineous family of Indian descent has been reported who had variants in PRKACG (176893) and GNE (603824) (last curated March 2024) [MISCELLANEOUS] Caused by mutation in the cAMP-dependent protein kinase, catalytic, gamma gene (PRKACG, 176893.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU024610 http://purl.bioontology.org/ontology/OMIM/MTHU047994 http://purl.bioontology.org/ontology/OMIM/MTHU047993 http://purl.bioontology.org/ontology/OMIM/MTHU016228 http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	9q21.11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616176
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4015405
OMIM Entry Type	3
OMIM MimType Value	pound

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