Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Id http://purl.obolibrary.org/obo/DOID_14261
http://purl.obolibrary.org/obo/DOID_14261
Preferred Name

fragile 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].
Synonyms
MARKER X SYNDROME
MARTIN-BELL SYNDROME
FRAGILE X MENTAL RETARDATION SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

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].
alternative label
MARKER X SYNDROME
MARTIN-BELL SYNDROME
FRAGILE X MENTAL RETARDATION SYNDROME
preferred label
fragile X syndrome
label
fragile X syndrome
comment
OMIM mapping confirmed by DO. [SN].
prefLabel
fragile X syndrome
database_cross_reference
ICD10CM:Q99.2
MESH:D005600
UMLS_CUI:C0016667
ICD9CM:759.83
SNOMEDCT_US_2023_03_01:390007001
GARD:6464
MIM:300624
NCI:C84717
ORDO:908
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notation
DOID:14261
in_subset
id
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].
has material basis in
has_obo_namespace
disease_ontology
subClassOf
type
has exact synonym
MARKER X SYNDROME
MARTIN-BELL SYNDROME
FRAGILE X MENTAL RETARDATION SYNDROME
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