Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618462 http://purl.bioontology.org/ontology/OMIM/618462
Preferred Name	BLEEDING DISORDER, PLATELET-TYPE, 22
Synonyms	BDPLT22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BDPLT22
prefLabel	BLEEDING DISORDER, PLATELET-TYPE, 22
Gene Symbol	PCBC BDPLT22 ERK CAPB EPHT3 DRT EPHB2 See more See less
Scope Statement	Onset in the first decade [MISCELLANEOUS] Two sibs have been reported (last curated June 2019) [MISCELLANEOUS] Caused by mutation in the ephrin receptor EphB2 gene (EPHB2, 600997.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064912 http://purl.bioontology.org/ontology/OMIM/MTHU008418 http://purl.bioontology.org/ontology/OMIM/MTHU064913 http://purl.bioontology.org/ontology/OMIM/MTHU024480
tui	T047
Gene Locus	1p36.1-p35
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618462
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5193111
OMIM Entry Type	3
OMIM MimType Value	pound

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