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
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- GARD:6464
- ICD10CM:Q99.2
- ICD9CM:759.83
- MESH:D005600
- MIM:300624
- NCI:C84717
- ORDO:908
- SNOMEDCT_US_2023_03_01:390007001
- UMLS_CUI:C0016667
- Ontology
- Human Disease ( DOID:14261 )
- is a type of
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Zebrafish Models