Hermanski-Pudlak Syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0079504

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Predicate	Object
rdf:type	umls-semnetwork:T019, umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:ANAT, calbc-group:CONC, calbc-group:DISO, calbc-group:PHEN, calbc-group:PHYS, calbc-group:PROC
skos:exactMatch	pubmed-mesh:Hermanski-Pudlak Syndrome
skos:definition	MSH: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.,NCI: A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.
skos:inScheme	lld:umls
skos:narrower	umls-concept:C1842362, umls-concept:C2931399, umls-concept:C2931875
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