eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| heritable pulmonary arterial hypertension | ||||
| Disease ID | 1715 |
|---|---|
| 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:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:8) |
| Disease ID | 1715 |
|---|---|
| Disease | heritable pulmonary arterial hypertension |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1715 |
|---|---|
| Disease | heritable pulmonary arterial hypertension |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| BMPR2 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total 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.) |
| Disease ID | 1715 |
|---|---|
| Disease | heritable pulmonary arterial hypertension |
| Case | (Waiting for update.) |