JSON

Fragile X Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D005600

A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

Instance info

Synonyms

Fragiles-X-Syndrom (DE), Fragile X-F Mental Retardation Syndrome, FRAXA Syndromes, FRAXE-Syndrom (DE), Martin Bell Syndrome, Mental Retardation, X-Linked, Associated With Fragile Site Fraxe, Syndromes, Fragile X, FRAXE Syndromes, Marker X Syndromes, Martin-Bell Syndrome, Fra(X) Syndrome, FRAXA Syndrome, Syndrome, Martin-Bell, FRAXE Syndrome, Martin-Bell-Syndrom (DE), Syndrom des fragilen X-Chromosoms (DE), Mental Retardation, X-Linked, Associated With Marxq28, Marker X Syndrome, Mar (X) Syndrome, Fragile X Syndromes, Syndromes, Marker X, X Linked Mental Retardation and Macroorchidism, Syndromes, FRAXA, Syndromes, FRAXE, X-Linked Mental Retardation and Macroorchidism, Fragile X Mental Retardation Syndrome, Syndrome, FRAXA, Syndrome, Marker X, Syndrome, FRAXE, FRAXA-Syndrom (DE), Syndrome, Fragile X

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

19910101

FX

D008607,D043283,D019680,D002873

HN

91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90

MDA

19820422

MMR

20180630

MN

C16.320.180.830.300,C16.320.322.500.500,C16.320.400.525.500,C10.597.606.360.455.500,C16.131.260.830.300

PM

91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90

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/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,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/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,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/D019680,http://purl.bioontology.org/ontology/MESH/D008607,http://purl.bioontology.org/ontology/MESH/D002873,http://purl.bioontology.org/ontology/MESH/D043283

SIB

http://purl.bioontology.org/ontology/MESH/D007926,http://purl.bioontology.org/ontology/MESH/D007706,http://purl.bioontology.org/ontology/MESH/D038921,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D016532,http://purl.bioontology.org/ontology/MESH/D058533,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/D009958,http://purl.bioontology.org/ontology/MESH/D015518

TERMUI

T369635,T369633,T784709,T369634,T016969,T782125,T811541,T782126,T811542,T782127,T811272,T811273

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (1983),NLM (2012)

cui

C0016667,C0751156,C0751157

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C536617,http://purl.bioontology.org/ontology/MESH/C564105

tui

T047

Instance relations

Types