|  Help  |  About  |  Contact Us

DO Term : fragile X syndrome [DOID:14261] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • UMLS_CUI:C0016667,
  • MARTIN-BELL SYNDROME,
  • OMIM:300624,
  • MESH:D005600,
  • 300624,
  • ICD9CM:759.83,
  • MARKER X SYNDROME,
  • NCI:C84717,
  • SNOMEDCT_US_2023_03_01:390007001,
  • ICD10CM:Q99.2,
  • FRAGILE X MENTAL RETARDATION SYNDROME,
  • ORDO:908,
  • GARD:6464
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents