Fragile X Syndrome
Disease ID: disease_node_3317
Connections displayed (default: 10).
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| Dbxref | 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 |
|---|---|
| Subclassof | DOID_225, DOID_0080009 |
| Data Source | DOID, MESH |
| Synonyms | FRAGILE X MENTAL RETARDATION SYNDROME, MARKER X SYNDROME, MARTIN-BELL SYNDROME |
| Mesh Id | D005600 |
| Mesh Label | Fragile X Syndrome |
| Mesh Subclassof | D038901, D025064 |
| Doid Label | fragile X syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_3317 |
| Doid Id | DOID_14261 |
| Label | Fragile X Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)