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Details
Link-It Detail - Disease - Fragile X Syndrome
Debug Stats
  • ### Total Build Time: 17 ms 32.562 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 401 bytes
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Disease (2)
Fragile X Syndrome C0016667
FRAGILE X MENTAL RETARDATION SYNDROME
Definition (1)
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Mental Retardation, X-Linked C1136249
img Sex Chromosome Disorders C0949683
Ancestral Roots
RootRoot Plus OneDepthParent
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Mental Retardation, X-Linked C1136249
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Mental Retardation, X-Linked C1136249
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Sex Chromosome Disorders C0949683
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Sex Chromosome Disorders C0949683
Relationships (77)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 8
diso_​to_​diso : 56
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 38
classifies : 2
inheritance_​type_​of : 1
manifestation_​of : 27
mapped_​to : 6
permuted_​term_​of : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 4
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN429img genetic aspects C0017399
DISO_to_PHEN355img genetic aspects C0017399
DISO_to_CHEM234img Fragile X Mental Retardation Protein C0118036
DISO_to_CHEM159img RNA-Binding Proteins C0085177
DISO_to_CHEM121img Nerve Tissue Proteins C0027759
DISO_to_DISO117img Complication Aspects C1171258
DISO_to_DISO61img Complication Aspects C1171258
DISO_to_DISO52img Tremor C0040822
DISO_to_DISO51img Autistic Disorder C0004352
DISO_to_DISO50img Ataxia C0004134
DISO_to_PHYS42img Mutation C0026882
DISO_to_CHEM38img Fragile X Mental Retardation Protein C0118036
DISO_to_DISO37img Expanded Trinucleotide Repeat C0524894
DISO_to_ANAT35img Brain C0006104
DISO_to_DISO34img Tremor C0040822
DISO_to_DISO33img Intellectual Disability C0025362
DISO_to_CHEM32img GLUTAMATE RECEPT METAB C0206529
DISO_to_DISO31img Autistic Disorder C0004352
DISO_to_CHEM26img Repeat, Trinucleotide C0282537
DISO_to_PHYS26img Mutation C0026882
DISO_to_ANAT24img Brain C0006104
DISO_to_DISO24img Down Syndrome C0013080
DISO_to_DISO23img Ataxia C0004134
DISO_to_DISO23img Cognition Disorders C0009241
DISO_to_DISO22img Animal Disease Models C0012644
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanTDRD381550tudor domain containing 3
img GENERIF, Score=1000, Pubmed Id: 18664458, UMLKSK CUI: C0016667
HumanDICER123405dicer 1, ribonuclease type III
img GENERIF, Score=694, Pubmed Id: 14576312, UMLKSK CUI: C0016667
HumanNRXN19378neurexin 1
img OMIM, Score=1000, UMLKSK CUI: C0016667
HumanGLO12739glyoxalase I
img OMIM, Score=1000, UMLKSK CUI: C0016667
HumanFMR12332fragile X mental retardation 1
Click here to display 18 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016667Fragile X Syndrome0self