Bardet-Biedl syndrome
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
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
excluded_subClassOf
MONDO:0015770
congenital hypogonadotropic hypogonadism
excluded_subClassOf
MONDO:0016565
obsolete syndromic genetic obesity (obsolete MONDO:0016565)
excluded_subClassOf
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0020240
obsolete syndromic retinitis pigmentosa (obsolete MONDO:0020240)
excluded_subClassOf
MONDO:0021124
female infertility
excluded_subClassOf
MONDO:0021189
intestinal motility disease
excluded_subClassOf
MONDO:0043007
obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (obsolete MONDO:0043007)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005308
ciliopathy
is_a
MONDO:0006025
autosomal recessive disease
is_a
BBS
exact
Bardet-Biedl syndrome
exact