Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Id http://identifiers.org/omim/615981
http://identifiers.org/omim/615981
Preferred Name

Bardet-Biedl syndrome 2

Definitions
(BBS2) - 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.
Synonyms
BBS2
Type http://www.w3.org/2002/07/owl#Class
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