Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600376
http://purl.bioontology.org/ontology/OMIM/600376
|
|---|---|
| Preferred Name | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 |
| Synonyms |
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
HHT2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
HHT2
|
|---|---|
| prefLabel | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
|
| Gene Symbol |
ALK1
HHT2
ACVRLK1
ACVRL1
|
| Scope Statement | Caused by mutation in the activin receptor-like kinase gene (ALK1, 601284.0001) [MOLECULAR BASIS]
Intrafamilial phenotypic variability [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12q11-q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600376
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1832529
C1838163
|
| Moved from | 600604
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |