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Bardet-Biedl syndrome 18
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.
Uniprot Description A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Disease Ontology Description A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBIP1 gene on chromosome 10q25.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110140
OMIM:615995
UMLS:C3806174
MONDO:0014446
High level summary of knowledge for a disease, including descriptions and datasource references.