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Experimental Factor Ontology
Last uploaded:
February 17, 2025
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Id | http://purl.obolibrary.org/obo/MONDO_0015229
http://purl.obolibrary.org/obo/MONDO_0015229
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Preferred Name | Bardet-Biedl syndrome |
Definitions |
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
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Synonyms |
Bardet-Biedl syndrome
BBS
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | 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 |
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preferred label |
Bardet-Biedl syndrome
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label |
Bardet-Biedl syndrome
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prefLabel |
Bardet-Biedl syndrome
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exactMatch |
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database_cross_reference |
ICD9:759.89
UMLS:C0752166
icd11.foundation:255526264
OMIMPS:209900
MESH:D020788
MedDRA:10056715
NANDO:2200414
SCTID:5619004
NCIT:C118632
MEDGEN:156019
Orphanet:110
DOID:1935
GARD:6866
NORD:838
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notation |
MONDO:0015229
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in_subset | |
id |
MONDO:0015229
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excluded_subClassOf |
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subClassOf | |
closeMatch | |
type | |
has_exact_synonym |
Bardet-Biedl syndrome
BBS
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