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Details
Link-It Detail - Disease - Wolfram Syndrome
Debug Stats
  • ### Total Build Time: 40 ms 43.325 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 319 bytes
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  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Wolfram Syndrome C0043207
Definition (1)
A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Optic Atrophies, Hereditary C0029125
img Deaf-Blind Disorders C1955603
img Abnormalities, Multiple C0000772
img Diabetes Mellitus, Type 1 C0011854
img Diabetes Insipidus C0011848
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Optic Atrophies, Hereditary C0029125
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Optic Atrophies, Hereditary C0029125
img Eye Diseases C0015397img Optic Nerve Diseases C00291325img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102666img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Optic Atrophies, Hereditary C0029125
img Otorhinolaryngologic Diseases C0029896img Ear Diseases C00134477img Deaf-Blind Disorders C1955603
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370889img Deaf-Blind Disorders C1955603
img Nervous System Diseases C0027765img Neurologic Manifestations C00278548img Deaf-Blind Disorders C1955603
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Deaf-Blind Disorders C1955603
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370888img Deaf-Blind Disorders C1955603
img Nervous System Diseases C0027765img Neurologic Manifestations C00278547img Deaf-Blind Disorders C1955603
img Eye Diseases C0015397img Vision Disorders C00427905img Deaf-Blind Disorders C1955603
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Endocrine System Diseases C0014130img Diabetes Mellitus C00118494img Diabetes Mellitus, Type 1 C0011854
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Diabetes Mellitus, Type 1 C0011854
img Immune System Diseases C0021053img Autoimmune Diseases C00043644img Diabetes Mellitus, Type 1 C0011854
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Diabetes Insipidus C0011848
img Endocrine System Diseases C0014130img Pituitary Diseases C00320024img Diabetes Insipidus C0011848
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Diabetes Insipidus C0011848
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Diabetes Insipidus C0011848
Relationships (34)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 30
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 5
associated_​with : 1
manifestation_​of : 25
permuted_​term_​of : 1
used_​for : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM26img Membrane Associated Proteins C0025252
DISO_to_CHEM24img Membrane Associated Proteins C0025252
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_DISOmanifestation_ofimg ATROPHY OF TESTICLE C0156312
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Cardiomyopathies C0878544
DISO_to_DISOmanifestation_ofimg Caused by mutation in the wolframin gene (WFS1, 222300.0001) C3278085
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Diabetes Insipidus C0011848
DISO_to_DISOmanifestation_ofimg Diabetes Mellitus C0011849
DISO_to_DISOmanifestation_ofimg Dilatation of ureter C0521620
DISO_to_DISOused_forimg Disorder of the optic nerve C0029132
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOassociated_withimg Genetic syndrome C0567439
DISO_to_DISOmanifestation_ofimg Growth retardation C0151686
DISO_to_DISOmanifestation_ofimg HYDRONEPHROSIS C0020295
DISO_to_DISOmanifestation_ofimg HYPOTHYROIDISM C0020676
DISO_to_DISOused_forimg Hearing Disorders C0260662
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Limited mobility of proximal interphalangeal joint C1857288
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0043207Wolfram Syndrome0self