loading...| Preferred Name |
Bardet-Biedl syndrome |
| Definitions |
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1935 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C118632 ORDO:110 UMLS_CUI:C0752166 ICD10CM:Q87.89 MESH:D020788 GARD:6866 OMIM:PS209900 SNOMEDCT_US_2022_09_01:5619004 |
| definition |
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1935 |
| in_subset | |
| label |
Bardet-Biedl syndrome |
| notation |
DOID:1935 |
| prefLabel |
Bardet-Biedl syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118632 | National Cancer Institute Thesaurus | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D020788 | Medical Subject Headings | LOOM |