loading...| Preferred Name |
Heritable pulmonary arterial hypertension |
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| Synonyms |
Familial pulmonary arterial hypertension |
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| Definitions |
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_275777 |
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| alternative_term |
Familial pulmonary arterial hypertension HPAH Hereditary pulmonary arterial hypertension FPAH |
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| definition |
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
UMLS:C0340543 ICD-11:BB01.0 OMIM:178600 ICD-10:I27.0 OMIM:615342 MedDRA:10085244 |
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| label |
Heritable pulmonary arterial hypertension |
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| notation |
ORPHA:275777 Etiological subtype |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_275777 |
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| prefLabel |
Heritable pulmonary arterial hypertension |
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| present_in |
Europe AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Czech Republic AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |