| Metadata | |
|---|---|
| ID | DOID:14261 |
| Name | fragile X syndrome |
| Definition | A syndrome 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. http://en.wikipedia.org/wiki/Fragile_X_syndrome, http://omim.org/entry/300624, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 |
| Xrefs |
SNOMEDCT_US_2023_03_01:390007001 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
FRAGILE X MENTAL RETARDATION SYNDROME [EXACT] MARKER X SYNDROME [EXACT] MARTIN-BELL SYNDROME [EXACT] |
| Parent Relationships |
is_a syndrome |