loading...| Preferred Name |
Fragile X Syndrome |
|
| Synonyms |
Syndromes, Fragile X |
|
| 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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005600 |
|
| 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 |
|
| 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 |
|
| cui |
C0751157 C0751156 C0016667 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19910101 |
|
| FX |
D043283 D002873 D008607 D019680 |
|
| HN |
91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D002873 http://purl.bioontology.org/ontology/MESH/D019680 |
|
| Machine permutation |
91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90 |
|
| Mapped from | ||
| MDA |
19820422 |
|
| MMR |
20180630 |
|
| 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 |
|
| notation |
D005600 |
|
| prefLabel |
Fragile X Syndrome |
|
| TERMUI |
T782125 T369633 T016969 T811541 T369634 T811273 T782127 T369635 T784709 T811272 T782126 T811542 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) GHR (2014) NLM (1983) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |