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Details
Link-It Detail - Disease - Nystagmus, Congenital
Debug Stats
  • ### Total Build Time: 166 ms 25.125 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 390 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 489 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1,000 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=22 ms Completed: 22 ms rowSize= 5.399 KB
  • CONCEPT_RELATIONSHIPS gt=93 ms Completed: 93 ms rowSize= 11.145 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 5.314 KB
  • CONCEPT_XREFS gt=23 ms Completed: 23 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (2)
Nystagmus, Congenital C0700501
Congenital nystagmus
Definition (1)
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Infant, Newborn, Diseases C0021290
img Nystagmus, Pathologic C0028738
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Nystagmus, Pathologic C0028738
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102665img Nystagmus, Pathologic C0028738
img Eye Diseases C0015397img Ocular Motility Disorders C00288504img Nystagmus, Pathologic C0028738
Relationships (25)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 11
classifies : 1
entry_​version_​of : 1
isa : 3
mapped_​to : 9
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN38img genetic aspects C0017399
DISO_to_ANAT18img Muscle of orbit C0028863
DISO_to_CHEM18img Cytoskeletal Proteins C0010852
DISO_to_CHEM18img Membrane Associated Proteins C0025252
DISO_to_DISO17img Disease, X-Linked Genetic C1138434
DISO_to_PHYS16img Mutation C0026882
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_ANAT13img Muscle of orbit C0028863
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_PHYS10img Eye Movements C0015413
DISO_to_DISOmapped_toimg Apraxia, oculomotor, Cogan type C0543874
DISO_to_DISOisaimg Congenital idiopathic motor nystagmus C0585539
DISO_to_DISOentry_version_ofimg Congenital nystagmus C0700501
DISO_to_DISOisaimg Congenital nystagmus with sensory abnormality C0585538
DISO_to_DISOmapped_toimg Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts C2931644
DISO_to_DISOmapped_toimg Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response C1970936
DISO_to_DISOmapped_toimg IIN, FORMERLY C1839580
DISO_to_DISOisaimg LN - Latent nystagmus C0152225
DISO_to_DISOmapped_toimg MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE C0265249
DISO_to_DISOmapped_toimg NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT (disorder) C1834079
DISO_to_DISOmapped_toimg NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT (disorder) C1842186
DISO_to_DISOmapped_toimg NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (disorder) C1860433
DISO_to_DISOmapped_toimg Ocular Motor Apraxia C3489733
DISO_to_DISOclassifiesimg Other disease of eye C0497217
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanFRMD790167FERM domain containing 7
img OMIM, Score=1000, UMLKSK CUI: C0700501
img GENERIF, Score=861, Pubmed Id: 17397053, UMLKSK CUI: C0700501
HumanPAX65080paired box 6
img OMIM, Score=1000, UMLKSK CUI: C0700501
HumanGPR1434935G protein-coupled receptor 143
img GENERIF, Score=1000, Pubmed Id: 17516023, UMLKSK CUI: C0700501
img GENERIF, Score=1000, Pubmed Id: 16754205, UMLKSK CUI: C0700501
img GENERIF, Score=1000, Pubmed Id: 18523664, UMLKSK CUI: C0700501
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0700501Nystagmus, Congenital0self