Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Synonyms: BBS
This is just here as a test because I lose it
Term information
database cross reference
- MedDRA:10056715 (E (Exact mapping: the two concepts are equivalent))
- OMIM:615992 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615983 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615984 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:617406 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615995 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615981 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:209900 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615991 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615993 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615989 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- ICD-10:Q87.8 (Inclusion term (The ORPHA code is included under a ICD10 category and has not its own code))
- OMIM:615994 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:605231 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- ICD-10:Q87.8 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MeSH:D020788 (E (Exact mapping: the two concepts are equivalent))
- OMIM:615990 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:600151 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615988 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615982 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C0752166 (E (Exact mapping: the two concepts are equivalent))
- OMIM:615987 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615996 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615985 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615986 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:617119 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
hasDbXref
MeSH:D020788
OMIM:615983
OMIM:615984
OMIM:615981
OMIM:615982
OMIM:615987
OMIM:617406
OMIM:615988
OMIM:615985
OMIM:615986
OMIM:605231
OMIM:615989
ICD-10:Q87.8
MedDRA:10056715
OMIM:615990
OMIM:615991
OMIM:615994
OMIM:615995
OMIM:615992
OMIM:615993
OMIM:209900
OMIM:617119
OMIM:615996
UMLS:C0752166
OMIM:600151
Term relations
Subclass of:
- disease
- part_of some Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- present_in some Europe and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.5
- present_in some Specific population and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 7.4
- part_of some Familial cystic renal disease
- part_of some Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
- part_of some Rare disorder with hypogonadotropic hypogonadism
- present_in some Tunisia and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.64
- present_in some United States and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 1.0
- part_of some Rare disease involving intestinal motility
- has_age_of_onset some antenatal
- has_age_of_onset some infancy
- part_of some Syndromic rod-cone dystrophy
- has_age_of_onset some neonatal
- present_in some Switzerland and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.6
- part_of some Rare disorder with Hirschsprung disease as a major feature
- part_of some Nephropathy-associated ciliopathy
- has_inheritance some autosomal recessive
- part_of some Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- has_inheritance some oligogenic
- part_of some Syndromic obesity
- present_in some Europe and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.7
- part_of some Retinal ciliopathy due to mutation in Bardet-Biedl gene
- part_of some Retinal ciliopathy due to mutation in nephronophthisis gene
- present_in some Specific population and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 5.6
- present_in some United Kingdom and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.8
Related from:
disease-causing germline mutation(s) in
- McKusick-Kaufman syndrome
- MKS transition zone complex subunit 1
- Bardet-Biedl syndrome 9
- Bardet-Biedl syndrome 5
- Bardet-Biedl syndrome 4
- Bardet-Biedl syndrome 2
- Bardet-Biedl syndrome 7
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 1
- WD repeat containing planar cell polarity effector
- intraflagellar transport 172
- leucine zipper transcription factor like 1
- BBSome interacting protein 1
- ADP ribosylation factor like GTPase 6
- tripartite motif containing 32
- centrosomal protein 290
- tetratricopeptide repeat domain 8
- Bardet-Biedl syndrome 12