loading...| Preferred Name |
Fragile X Syndrome |
|
| Synonyms |
|
|
| Definitions |
An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00040032 |
|
| Database_Cross_Reference |
NDFRT:N0000001290 MTH:NOCODE OMIM:309550 ICD9CM:759.83 SNOMEDCT_US:390007001 SNOMEDCT_US:613003 MSH:D005600 LCH:U001873 CHV:0000005246 MEDLINEPLUS:3690 CSP:1254-8431 MEDCIN:38282 LCH_NW:sh85051162 MDR:10017324 RCD:X78FB OMIM:300624 NCI:C84717 ICD10CM:Q99.2 DO:DOID:14261 PSY:20295 SNMI:D4-00504 JABL:215 |
|
| Definition |
An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function. |
|
| label |
Fragile X Syndrome |
|
| MCID |
MC00005292 |
|
| PMOID |
PMO:00040032 |
|
| prefixIRI |
pmo:PMO_00040032 |
|
| prefLabel |
Fragile X Syndrome |
|
| Synonym |
martin-bell syndrome fragile-X syndrome (FXS) disorder fragile x syndrome fragile x syndrome autism Martin-Bell syndrome Martin-Bell Syndrome Fragile X Mental Retardation Syndrome fra(X)(q27-28) syndrome X-linked mental deficiency-megalotestes syndrome Marker X Syndrome Martin-Bell syndrome (MBS) autism fragile syndrome x fra(X)(q27) syndrome X-linked mental retardation-fragile site 1 syndrome (FRAXE 1) fragile X-mental retardation syndrome x fragile syndrome fra(X) syndrome fragile site mental retardation 1 fragile X syndrome (diagnosis) Syndrome, Fragile X Syndromes, Fragile X fragile x syndrome X Linked Mental Retardation and Macroorchidism Fragile x syndrome Mental Retardation, X-Linked, Associated With Marxq28 macro-orchidism-marker X syndrome Syndrome, Martin-Bell fragile X syndrome X-LINKED MENTAL RETARDATION AND MACROORCHIDISM Syndromes, Marker X Escalante syndrome X-Linked Mental Retardation and Macroorchidism Syndrome, Marker X Fragile X Syndrome [Disease/Finding] Fragile X syndrome Fragile X syndrome (disorder) fragile Xq syndrome FRAXA - Fragile X syndrome mar(X) syndrome FRAGILE X SYNDROME X-linked mental retardation-fragile site 1 syndrome autism-fragile X syndrome marker X syndrome Fra(X) Syndrome MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME mental retardation-macroorchidism syndrome fragile-x syndrome martin bell syndrome FXS MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28 Martin-Bell-Renpenning syndrome macro-orchidism-marker X (MOMX) syndrome Marker X Syndromes Renpenning syndrome 2 MARKER X SYNDROME autism-fragile X (AFRAX) syndrome chromosome X fragility syndrome fragile syndrome x X-linked mental retardation with fragile X syndrome Fragile X Syndromes fra(X)(28) syndrome fragile site mental retardation 1 (FMR1) Marker X syndrome fragile-X syndrome Martin Bell Syndrome |
|
| Tree Number |
T9.8.4.41.19.8 T9.8.4.32.15.3 T3.25.70.9.9.8 T3.25.90.9.8 T9.21.4.2.22.8 T9.8.3.9.15.3 T3.25.11.5.9.9.8 T9.8.4.44.22.8 T9.21.1.5.9.9.8 |
|
| subClassOf |