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Coffin-Lowry Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D038921

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Instance info

Synonyms

Coffin Lowry Syndrome, Mental Retardation with Osteocartilaginous Abnormalities, Syndrome, Coffin, Syndrome, Coffin-Lowry, Coffin Syndrome, Coffin-Lowry-Syndrom (DE)

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

20030101

FX

D019893

HN

2003

MDA

20020703

MMR

20180630

MN

C16.320.400.525.249,C10.597.606.360.455.249,C16.320.322.500.249

PM

2003

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,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/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,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/D019893

SIB

http://purl.bioontology.org/ontology/MESH/D007926,http://purl.bioontology.org/ontology/MESH/D007706,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D016532,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D054221,http://purl.bioontology.org/ontology/MESH/D000326,http://purl.bioontology.org/ontology/MESH/D005600,http://purl.bioontology.org/ontology/MESH/D015518

TERMUI

T486123,T764041,T764040

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2011),NLM (2003)

cui

C0265252

hasSTY

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

tui

T047

Instance relations

Types