A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
Synonyms:
BBS
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:615981 (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:615991 (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:615986 (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:617406 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615992 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C0752166 (E (Exact mapping: the two concepts are equivalent))
- OMIM:617119 (BTNT (ORPHA code's Broader Term maps to a Narrower 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:615983 (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). - Inclusion term (The ORPHA code is included under a ICD10 category and has not its own code).)
- OMIM:615996 (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:615985 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615989 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615987 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:605231 (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:615982 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:615994 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:600151 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- MedDRA:10056715 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
hasDbXref
- MeSH:D020788
- OMIM:615983
- OMIM:615984
- OMIM:615981
- OMIM:615982
- OMIM:615987
- OMIM:615988
- OMIM:617406
- 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
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409946
- http://www.orpha.net/ORDO/Orphanet_409945
- http://www.orpha.net/ORDO/Orphanet_409944
- http://www.orpha.net/ORDO/Orphanet_409943
has birth prevalence range
- http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409936
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence average value
- 1.0
- 0.64
- 7.4
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
- http://www.orpha.net/ORDO/Orphanet_409976
notation
- ORPHA:110
part of
- http://www.orpha.net/ORDO/Orphanet_506213
- http://www.orpha.net/ORDO/Orphanet_104009
- http://www.orpha.net/ORDO/Orphanet_557866
- http://www.orpha.net/ORDO/Orphanet_399846
- http://www.orpha.net/ORDO/Orphanet_102283
- http://www.orpha.net/ORDO/Orphanet_181387
- http://www.orpha.net/ORDO/Orphanet_98661
- http://www.orpha.net/ORDO/Orphanet_611327
- http://www.orpha.net/ORDO/Orphanet_156183
- http://www.orpha.net/ORDO/Orphanet_156162
- http://www.orpha.net/ORDO/Orphanet_240371
- http://www.orpha.net/ORDO/Orphanet_93587
- http://www.orpha.net/ORDO/Orphanet_156180
present in
- http://www.orpha.net/ORDO/Orphanet_409992
- http://www.orpha.net/ORDO/Orphanet_410225
- http://www.orpha.net/ORDO/Orphanet_410216
- http://www.orpha.net/ORDO/Orphanet_409984
Term relations
Subclass of:
Related from:
disease-causing germline mutation(s) in
- MKKS centrosomal shuttling protein
- MKS transition zone complex subunit 1
- Bardet-Biedl syndrome 12
- tetratricopeptide repeat domain 8
- centrosomal protein 290
- tripartite motif containing 32
- ADP ribosylation factor like GTPase 6
- BBSome interacting protein 1
- leucine zipper transcription factor like 1
- intraflagellar transport 172
- WD repeat containing planar cell polarity effector
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 7
- Bardet-Biedl syndrome 2
- Bardet-Biedl syndrome 4
- Bardet-Biedl syndrome 5
- Bardet-Biedl syndrome 9