loading...| Preferred Name | heritable pulmonary arterial hypertension | |
| Synonyms |
hereditary pulmonary arterial hypertension familial pulmonary arterial hypertension FPAH HpaH |
|
| Definitions |
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017148 |
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| database_cross_reference |
UMLS:C0340543 Orphanet:275777 NCIT:C121945 NANDO:2201047 MEDGEN:90953 SCTID:697897003 OMIMPS:178600 GARD:11914 |
|
| definition |
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. |
|
| exactMatch |
https://omim.org/phenotypicSeries/PS178600 http://linkedlifedata.com/resource/umls/id/C0340543 http://identifiers.org/medgen/90953 http://purl.obolibrary.org/obo/NCIT_C121945 |
|
| has_exact_synonym |
hereditary pulmonary arterial hypertension familial pulmonary arterial hypertension FPAH HpaH |
|
| id |
MONDO:0017148 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_etiological_subtype http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder |
|
| label |
heritable pulmonary arterial hypertension |
|
| notation |
MONDO:0017148 |
|
| preferred label |
heritable pulmonary arterial hypertension |
|
| prefLabel |
heritable pulmonary arterial hypertension |
|
| subClassOf |