Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

idiopathic and/or familial pulmonary arterial hypertension
Synonyms

pulmonary hypertension, primary, type 1

IFPAH

pulmonary hypertension, primary, 1

PPH1
Definitions

Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.
ID

http://purl.obolibrary.org/obo/MONDO_0008347
closeMatch

http://linkedlifedata.com/resource/umls/id/C1969343

http://linkedlifedata.com/resource/umls/id/C1969342

http://linkedlifedata.com/resource/umls/id/C3714844
database_cross_reference

ICD10:I27.0

UMLS:CN205068

Orphanet:422
exactMatch

http://linkedlifedata.com/resource/umls/id/CN205068

http://www.orpha.net/ORDO/Orphanet_422
has exact synonym

pulmonary hypertension, primary, type 1

IFPAH
has related synonym

pulmonary hypertension, primary, 1

PPH1
id

MONDO:0008347
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease
label

idiopathic and/or familial pulmonary arterial hypertension
notation

MONDO:0008347
prefLabel

idiopathic and/or familial pulmonary arterial hypertension
textual definition

Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0001999

http://purl.obolibrary.org/obo/MONDO_0015924
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