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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602531
http://purl.bioontology.org/ontology/OMIM/602531
|
|---|---|
| Preferred Name | GRANGE SYNDROME |
| Synonyms |
GRNG
GRANGE OCCLUSIVE ARTERIAL SYNDROME
ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GRNG
GRANGE OCCLUSIVE ARTERIAL SYNDROME
ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY
|
|---|---|
| prefLabel | GRANGE SYNDROME
|
| Gene Symbol |
HCCA2
GRNG
YAP
YY1AP1
|
| Scope Statement | Caused by mutation in the YY1-associated protein-1 gene (607860.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602531
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1865267
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |