loading...| Preferred Name |
Bardet-Biedl syndrome |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1935 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
ICD10CM:Q87.89 NCI:C118632 SNOMEDCT_US_2020_03_01:5619004 OMIM:PS209900 UMLS_CUI:C0752166 MESH:D020788 GARD:6866 ORDO:110 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:1935 |
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| imported from | ||
| in_subset | ||
| label |
Bardet-Biedl syndrome |
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| notation |
DOID:1935 |
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| prefLabel |
Bardet-Biedl syndrome |
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| textual 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. |
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| subClassOf |
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