Experimental Factor Ontology

Last uploaded: February 17, 2025
Id http://purl.obolibrary.org/obo/MONDO_0015229
http://purl.obolibrary.org/obo/MONDO_0015229
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
Synonyms
Bardet-Biedl syndrome
BBS
Type http://www.w3.org/2002/07/owl#Class
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