loading...| Preferred Name |
fragile X syndrome |
| Synonyms |
MARKER X SYNDROME |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14261 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:Q99.2 OMIM:300624 ICD9CM:759.83 ORDO:908 GARD:6464 MESH:D005600 NCI:C84717 SNOMEDCT_US_2022_09_01:390007001 UMLS_CUI:C0016667 |
| 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. |
| has exact synonym |
MARKER X SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME MARTIN-BELL SYNDROME |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14261 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
fragile X syndrome |
| notation |
DOID:14261 |
| prefLabel |
fragile X syndrome |
| subClassOf |