Preferred Name | Hermansky-Pudlak Syndrome | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hermansky-Pudlak_Syndrome |
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DEFINITION |
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. |
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isDefinedBy |
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. |
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label |
Hermansky-Pudlak Syndrome |
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prefixIRI |
Thesaurus:Hermansky-Pudlak_Syndrome |
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prefLabel |
Hermansky-Pudlak Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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