loading...| Preferred Name | Bardet-Biedl syndrome | |
| Synonyms |
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| 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]. |
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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 UMLS_CUI:C0752166 MIM:PS209900 MESH:D020788 SNOMEDCT_US_2023_03_01:5619004 GARD:6866 ORDO:110 |
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| 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. OMIM mapping confirmed by DO. [SN]. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:1935 |
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| in_subset | ||
| label |
Bardet-Biedl syndrome |
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| notation |
DOID:1935 |
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| note |
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]. |
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| preferred label |
Bardet-Biedl syndrome |
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| prefLabel |
Bardet-Biedl syndrome |
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| subClassOf |