Search Ontology:
Human Disease
fragile X syndrome
- Term ID
- DOID:14261
- Synonyms
-
- FRAGILE X MENTAL RETARDATION SYNDROME
- MARKER X SYNDROME
- MARTIN-BELL 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. (3)
- References
-
- GARD:6464
- ICD10CM:Q99.2
- ICD9CM:759.83
- Ontology
- Human Disease ( DOID:14261 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| FMR1 | Fragile X syndrome | fragile X syndrome | 300624 |
1 - 1 of 1
Show
Zebrafish Models
1 - 4 of 4
Show