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Bardet-Biedl syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015229

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 [ PMID:10874630 Orphanet:110 ]

Term info

database cross reference
  • OMIMPS:209900 (MONDO:equivalentTo)
  • MESH:D020788 (Orphanet:110/e)
  • DOID:1935 (MONDO:equivalentTo)
  • UMLS:C0752166 (Orphanet:110/e)
  • MedDRA:10056715 (Orphanet:110/e)
  • GARD:0006866 (MONDO:equivalentTo)
  • SCTID:5619004 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • Orphanet:110 (MONDO:equivalentTo)
  • NCIT:C118632 (MONDO:equivalentTo)
Subsets

ordo_disease, clingen

abbreviation
BBS [ Orphanet:110 ]

closeMatch

http://identifiers.org/meddra/10056715

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

exactMatch

https://omim.org/phenotypicSeries/PS209900, http://linkedlifedata.com/resource/umls/id/C0752166, http://purl.obolibrary.org/obo/Orphanet_110, http://purl.obolibrary.org/obo/NCIT_C118632, http://identifiers.org/mesh/D020788, http://purl.obolibrary.org/obo/DOID_1935, http://identifiers.org/snomedct/5619004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015160, http://purl.obolibrary.org/obo/MONDO_0043007, http://purl.obolibrary.org/obo/MONDO_0019741, http://purl.obolibrary.org/obo/MONDO_0021124, http://purl.obolibrary.org/obo/MONDO_0016565, http://purl.obolibrary.org/obo/MONDO_0021189, http://purl.obolibrary.org/obo/MONDO_0015770, http://purl.obolibrary.org/obo/MONDO_0020240

has exact synonym

BBS, Bardet-Biedl syndrome

id

MONDO:0015229