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loading...| Preferred Name |
Hermansky-Pudlak Syndrome |
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| Synonyms |
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| Definitions |
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C37261 |
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| ALT_DEFINITION |
A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis. |
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| code |
C37261 |
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| Contributing_Source |
NICHD |
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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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| in_subset | ||
| label |
Hermansky-Pudlak Syndrome |
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| Legacy Concept Name |
Hermansky-Pudlak_Syndrome |
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| Preferred_Name |
Hermansky-Pudlak Syndrome |
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| prefixIRI |
NCIT:C37261 |
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| prefLabel |
Hermansky-Pudlak Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0079504 |
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| subClassOf |
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