Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/185050 http://purl.bioontology.org/ontology/OMIM/185050
Preferred Name	STORAGE POOL PLATELET DISEASE
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	STORAGE POOL PLATELET DISEASE
Scope Statement	Syndromic forms of dense granule only platelet storage pool deficiencies (delta-SPD) include Hermansky-Pudlak syndrome (203300) and Chediak-Hygashi syndrome (214500) [MISCELLANEOUS] Acquired delta-SPD seen in myeloproliferative disorders, myelodysplasia, and acute leukemia [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006825 http://purl.bioontology.org/ontology/OMIM/MTHU023863 http://purl.bioontology.org/ontology/OMIM/MTHU023864 http://purl.bioontology.org/ontology/OMIM/MTHU023865 http://purl.bioontology.org/ontology/OMIM/MTHU023862 http://purl.bioontology.org/ontology/OMIM/MTHU023866 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	185050
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0032197
OMIM Entry Type	5
OMIM MimType Value	perc

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