About: Hermansky-Pudlak Syndrome     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Hermansky-Pudlak Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hermansky-Pudlak Syndrome
UMLS_CUI
  • C0079504
Legacy_Concept_Name
  • Hermansky-Pudlak_Syndrome
FULL_SYN
  • Hermansky-Pudlak SyndromePTNCI
DEFINITION
  • A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.NCI
code
  • C37261
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