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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619902
http://purl.bioontology.org/ontology/OMIM/619902
|
|---|---|
| Preferred Name | HEPATORENOCARDIAC DEGENERATIVE FIBROSIS |
| Synonyms |
HRCDF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HRCDF
|
|---|---|
| prefLabel | HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
|
| Gene Symbol |
HRCDF
TULP3
|
| Scope Statement | Initial presentation is elevated liver enzymes [MISCELLANEOUS]
Clinical variability [MISCELLANEOUS]
Hypertrophic cardiomyopathy is a late development (6th to 7th decade) [MISCELLANEOUS]
Caused by mutation in the TUB-like protein-3 gene (TULP3, 604730.0001) [MOLECULAR BASIS]
Age at presentation varies from infancy to the 3rd decade [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619902
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676996
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |