loading...| Preferred Name |
Bardet-Biedl syndrome |
|
| Synonyms |
Laurence-Moon syndrome Laurence-Moon-Bardet-Biedl syndrome BBS Laurence-Moon-Biedl syndrome |
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| Definitions |
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015229 |
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| database_cross_reference |
GARD:0006866 MESH:D020788 UMLS:C0752166 DOID:1935 NCIT:C118632 ICD10:Q87.89 ICD10:Q87.8 ICD9:759.89 SCTID:5619004 Orphanet:110 OMIMPS:209900 MedDRA:10056715 |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_1935 http://identifiers.org/meddra/10056715 http://linkedlifedata.com/resource/umls/id/C0752166 http://www.orpha.net/ORDO/Orphanet_110 http://identifiers.org/mesh/D020788 |
|
| has exact synonym |
Laurence-Moon syndrome Laurence-Moon-Bardet-Biedl syndrome BBS Laurence-Moon-Biedl syndrome |
|
| id |
MONDO:0015229 |
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| imported from | ||
| in_subset | ||
| label |
Bardet-Biedl syndrome |
|
| notation |
MONDO:0015229 |
|
| prefLabel |
Bardet-Biedl syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015218 http://purl.obolibrary.org/obo/MONDO_0022409 http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/MONDO_0015890 http://purl.obolibrary.org/obo/MONDO_0021189 http://purl.obolibrary.org/obo/MONDO_0020244 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0022410 http://purl.obolibrary.org/obo/MONDO_0018398 http://purl.obolibrary.org/obo/MONDO_0016565 |