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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D005600
http://purl.bioontology.org/ontology/MESH/D005600
|
|---|---|
| Preferred Name | Fragile X Syndrome |
| Definitions |
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)
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| Synonyms |
Syndromes, Fragile X
Syndrome, FRAXE
Marker X Syndrome
Syndromes, FRAXA
Fragile X Mental Retardation Syndrome
X Linked Mental Retardation and Macroorchidism
FRAXA Syndromes
Martin Bell Syndrome
Syndromes, Marker X
Marker X Syndromes
Mar (X) Syndrome
X-Linked Mental Retardation and Macroorchidism
FRAXE Syndrome
Syndrome, FRAXA
Syndrome, Marker X
Syndromes, FRAXE
Fragile X Syndromes
FRAXE Syndromes
FRAXA Syndrome
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Syndrome, Fragile X
Fragile X-F Mental Retardation Syndrome
Mental Retardation, X-Linked, Associated With Marxq28
Martin-Bell Syndrome
Fra(X) Syndrome
Syndrome, Martin-Bell
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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) |
|---|---|
| altLabel |
Syndromes, Fragile X
Syndrome, FRAXE
Marker X Syndrome
Syndromes, FRAXA
Fragile X Mental Retardation Syndrome
X Linked Mental Retardation and Macroorchidism
FRAXA Syndromes
Martin Bell Syndrome
Syndromes, Marker X
Marker X Syndromes
Mar (X) Syndrome
X-Linked Mental Retardation and Macroorchidism
FRAXE Syndrome
Syndrome, FRAXA
Syndrome, Marker X
Syndromes, FRAXE
Fragile X Syndromes
FRAXE Syndromes
FRAXA Syndrome
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Syndrome, Fragile X
Fragile X-F Mental Retardation Syndrome
Mental Retardation, X-Linked, Associated With Marxq28
Martin-Bell Syndrome
Fra(X) Syndrome
Syndrome, Martin-Bell
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| prefLabel | Fragile X Syndrome
|
| Machine permutation | 91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90
|
| HN | 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90
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| Mapped from | |
| type | |
| tui |
T047
T048
|
| TERMUI |
T782125
T369633
T016969
T811541
T369634
T811273
T782127
T369635
T784709
T811272
T782126
T811542
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| TH |
OMIM (2013)
NLM (2000)
NLM (2012)
GHR (2014)
NLM (1983)
ORD (2010)
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|
| MMR | 20180630
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| notation | D005600
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| FX |
D043283
D002873
D008607
D019680
|
| DX | 19910101
|
| cui |
C0751157
C0751156
C0016667
|
| DC | 1
|
| MN |
C10.597.606.360.455.500
C16.131.260.830.300
C16.320.180.830.300
C16.320.322.500.500
C16.320.400.525.500
|
| 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
|
| MDA | 19990101
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |