Bardet-Biedl syndrome
cv_term_accession
KW-0083
canonical
uniprot_keyword
KW-0083
canonical
name
Bardet-Biedl syndrome
uniprot
synonym
BBS
uniprot
definition
Protein which, if defective, causes Bardet-Biedl syndrome (BBS), a genetically heterogeneous, autosomal recessive disorder. It is characterized by pigmentary retinopathy, obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords