Link to this page
Drug Target Ontology
Last uploaded:
February 15, 2018
Jump to:
| Preferred Name | fragile X syndrome | |
| Synonyms |
|
|
| Definitions |
An X-linked disease 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].
|
|
| definition |
An X-linked disease 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.
|
|
| hasDbXref |
ICD9CM:759.83 MESH:D005600 UMLS_CUI:C0016667 OMIM:300624 NCI:C84717 ICD10CM:Q99.2 SNOMEDCT_US_2016_03_01:613003 SNOMEDCT_US_2016_03_01:390007001
|
|
| hasExactSynonym |
MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME
|
|
| hasOBONamespace |
disease_ontology
|
|
| id |
DOID:14261
|
|
| imported from | ||
| inSubset | ||
| label |
fragile X syndrome
|
|
| prefixIRI |
DOID:14261
|
|
| prefLabel |
fragile X syndrome
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping