loading...| Preferred Name | Hermansky-Pudlak syndrome | |
| Synonyms |
Hermansky Pudlak syndrome HPS (Hermansky Pudlak syndrome) HPS |
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| Definitions |
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019312 |
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| altLabel |
Hermansky Pudlak syndrome HPS (Hermansky Pudlak syndrome) HPS |
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| definition |
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. |
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| has_exact_synonym |
HPS (Hermansky Pudlak syndrome) HPS |
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| has_related_synonym |
Hermansky Pudlak syndrome |
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| label |
Hermansky-Pudlak syndrome |
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| prefixIRI |
MONDO:0019312 |
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| prefLabel |
Hermansky-Pudlak syndrome |
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| textual definition |
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021181 http://purl.obolibrary.org/obo/MONDO_0017739 http://purl.obolibrary.org/obo/MONDO_0017305 |