loading...| Preferred Name | Hermansky-Pudlak syndrome | |
| Synonyms |
Hermansky Pudlak syndrome Hepatopulmonary Syndrome HPS (Hermansky Pudlak syndrome) HPS |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019312 |
|
| database_cross_reference |
OMIMPS:203300 NCIT:C37261 SCTID:9311003 MESH:D022861 ICD10CM:E70.3 NANDO:1200638 ICD10CM:E70.331 Orphanet:79430 icd11.foundation:2089801290 UMLS:C0079504 MEDGEN:36313 MedDRA:10071775 DOID:3753 GARD:6643 ICD9:270.2 NORD:1918 |
|
| 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. |
|
| has_exact_synonym |
Hepatopulmonary Syndrome HPS (Hermansky Pudlak syndrome) HPS |
|
| has_related_synonym |
Hermansky Pudlak syndrome |
|
| id |
MONDO:0019312 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Hermansky-Pudlak syndrome |
|
| notation |
MONDO:0019312 |
|
| preferred label |
Hermansky-Pudlak syndrome |
|
| prefLabel |
Hermansky-Pudlak syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_79430 http://purl.bioontology.org/ontology/ICD10CM/E70.331 http://purl.obolibrary.org/obo/DOID_3753 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2089801290 http://identifiers.org/medgen/36313 http://purl.obolibrary.org/obo/NCIT_C37261 https://omim.org/phenotypicSeries/PS203300 http://identifiers.org/mesh/D022861 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021181 |