Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	STORAGE POOL PLATELET DISEASE
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/185050
cui	C0032197
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
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	185050
OMIM Entry Type	5
OMIM MimType Value	perc
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] Aquired delta-SPD seen in myeloproliferative disorders, myelodysplasia, and acute leukemia [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10084190	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/128099001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/9417000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/234474009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010981	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DC-61960	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10084190	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/X20Ev	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234474009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D010981	MESH	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002418	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/9417000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10084190	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X20Ew	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/128099001	SCTSPA	CUI