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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619314
http://purl.bioontology.org/ontology/OMIM/619314
|
|---|---|
| Preferred Name | BURATTI-HAREL SYNDROME |
| Synonyms |
BURHAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BURHAS
|
|---|---|
| prefLabel | BURATTI-HAREL SYNDROME
|
| Gene Symbol |
SIAH1
BURHAS
|
| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Five unrelated patients have been reported (last curated May 2021) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the SIAH E3 ubiquitin ligase family, member 1 gene (SIAH1, 602212.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619314
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543351
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |