loading...| Preferred Name | fragile X syndrome | |
| Synonyms |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION 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 |
|
| Obsolete |
true |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME |
|
| database_cross_reference |
OMIM:300624 ICD10CM:Q99.2 MESH:D005600 UMLS_CUI:C0016667 ICD9CM:759.83 SNOMEDCT_US_2023_03_01:390007001 GARD:6464 NCI:C84717 ORDO:908 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| equivalentClass | ||
| has exact synonym |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14261 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
fragile X syndrome |
|
| notation |
DOID:14261 |
|
| note |
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]. |
|
| owl:deprecated |
true |
|
| preferred label |
fragile X syndrome |
|
| prefLabel |
fragile X syndrome |
|
| subClassOf |
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090501 |