loading...| Preferred Name | caveolinopathy | |
| Synonyms |
qualitative or quantitative defects of caveolin-3 |
|
| Definitions |
A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016146 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0016146 |
|
| database_cross_reference |
UMLS:C5679790 MEDGEN:1826055 GARD:20394 Orphanet:207078 |
|
| definition |
A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals |
|
| has_exact_synonym |
qualitative or quantitative defects of caveolin-3 |
|
| id |
MONDO:0016146 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
caveolinopathy |
|
| notation |
MONDO:0016146 |
|
| prefLabel |
caveolinopathy |
|
| skos_exactMatch |
http://identifiers.org/medgen/1826055 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0003939 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0003939 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0016146 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016146 | DOVES | LOOM |