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Pediatric Disease Annotations & Medicines



   heritable pulmonary arterial hypertension
  

Disease ID 1434
Disease heritable pulmonary arterial hypertension
Definition
Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
Synonym
familial primary pulmonary hypertension
familial primary pulmonary hypertension (disorder)
familial primary pulmonary hypertension [disease/finding]
heritable pulmonary arterial hypertension (disorder)
hpah
Orphanet
UMLS
C0340543
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:11)
EIF2AK4  |  440275  |  ORPHANET
ACVRL1  |  94  |  ORPHANET
HDAC4  |  9759  |  CTD_human
BMPR2  |  659  |  ORPHANET
SMAD9  |  4093  |  ORPHANET
HDAC5  |  10014  |  CTD_human
HDAC1  |  3065  |  CTD_human
CAV1  |  857  |  ORPHANET
ENG  |  2022  |  ORPHANET
TBX4  |  9496  |  ORPHANET
KCNK3  |  3777  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:8)
CAV1  |  7q31.2
TBX4  |  17q23.2
KCNK3  |  2p23.3
ACVRL1  |  12q13.13
ENG  |  9q34.11
BMPR2  |  2q33.1-q33.2
EIF2AK4  |  15q15.1
SMAD9  |  13q13.3
Disease ID 1434
Disease heritable pulmonary arterial hypertension
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1434
Disease heritable pulmonary arterial hypertension
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)