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Bardet-Biedl Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D020788

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Instance info

Synonyms

Syndrome, Laurence-Moon-Bardet-Biedl, Bardet Biedl Syndrome, Laurence-Moon-Bardet-Biedl Syndrome, Laurence Moon Bardet Biedl Syndrome, Syndrome, Bardet-Biedl, Bardet-Biedl-Syndrom (DE), Laurence-Moon-Bardet-Biedl-Syndrom (DE)

AN

note entry term: do not confuse with LAURENCE-MOON SYNDROME

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20000101

FX

D008607

HN

2000

MDA

19991108

MMR

20180615

MN

C11.270.684.624,C16.131.077.245.125,C16.320.184.125,C10.228.140.617.200

PM

2000

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D008607

SIB

http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D016767,http://purl.bioontology.org/ontology/MESH/D056769,http://purl.bioontology.org/ontology/MESH/D010900,http://purl.bioontology.org/ontology/MESH/D007029,http://purl.bioontology.org/ontology/MESH/D002925,http://purl.bioontology.org/ontology/MESH/D006623

TERMUI

T358149,T366093

TH

GHR (2014),OMIM (2013),NLM (2000)

cui

C0752166

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C565918,http://purl.bioontology.org/ontology/MESH/C565919,http://purl.bioontology.org/ontology/MESH/C565916,http://purl.bioontology.org/ontology/MESH/C565917,http://purl.bioontology.org/ontology/MESH/C537910,http://purl.bioontology.org/ontology/MESH/C565738,http://purl.bioontology.org/ontology/MESH/C537912,http://purl.bioontology.org/ontology/MESH/C537911,http://purl.bioontology.org/ontology/MESH/C565921,http://purl.bioontology.org/ontology/MESH/C565920,http://purl.bioontology.org/ontology/MESH/C537909,http://purl.bioontology.org/ontology/MESH/C567141,http://purl.bioontology.org/ontology/MESH/C567140

tui

T047

Instance relations

Types