loading...| Preferred Name |
heritable pulmonary arterial hypertension |
|
| Synonyms |
HpaH familial pulmonary arterial hypertension FPAH hereditary pulmonary arterial hypertension |
|
| 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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| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
Orphanet:275777 COHD:44783618 ICD10:I27.0 NCIT:C121945 SCTID:697897003 OMIMPS:178600 UMLS:CN202575 |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C121945 http://linkedlifedata.com/resource/umls/id/CN202575 |
|
| has exact synonym |
HpaH familial pulmonary arterial hypertension FPAH hereditary pulmonary arterial hypertension |
|
| id |
MONDO:0017148 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_etiological_subtype |
|
| label |
heritable pulmonary arterial hypertension |
|
| notation |
MONDO:0017148 |
|
| prefLabel |
heritable pulmonary arterial hypertension |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015924 |