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Details
Link-It Detail - Disease - Deaf-Blind Disorders
Debug Stats
  • ### Total Build Time: 138 ms 25.697 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 193 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1.380 KB
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 987 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=37 ms Completed: 37 ms rowSize= 9.179 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 5.352 KB
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 6.891 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Deaf-Blind Disorders C1955603
Blind Deaf Disorders
Definition (1)
The absence of both hearing and vision.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Deafness C0581883
img Abnormalities, Multiple C0000772
img Blindness C0456909
Children (2)
img Usher Syndromes C0271097
img Wolfram Syndrome C0043207
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurologic Manifestations C00278547img Deafness C0581883
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370888img Deafness C0581883
img Otorhinolaryngologic Diseases C0029896img Ear Diseases C00134476img Deafness C0581883
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Blindness C0456909
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Blindness C0456909
img Eye Diseases C0015397img Vision Disorders C00427904img Blindness C0456909
Relationships (11)

Relation Types:
diso_​to_​diso : 7
diso_​to_​phen : 1
diso_​to_​phys : 3


Relationships:
none : 6
mapped_​to : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO5img Intellectual Disability C0025362
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_DISO2img chemically induced C0007994
DISO_to_PHYS2img Aging C0001811
DISO_to_PHYS2img Neuronal Plasticity C0027880
DISO_to_PHYS2img Visual Perception C0042830
DISO_to_DISOmapped_toimg ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION C0796028
DISO_to_DISOpermuted_term_ofimg Blind Deaf Disorders C1955603
DISO_to_DISOmapped_toimg Cardiomyopathy, hypogonadism and metabolic anomalies C2931289
DISO_to_DISOmapped_toimg MOHR-TRANEBJAERG SYNDROME C0796074
DISO_to_DISOmapped_toimg WTRS C0796202
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanPCDH1565217protocadherin-related 15
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanCDH2364072cadherin-related 23
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanDFNB3125861deafness, autosomal recessive 31
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanCLRN17401clarin 1
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanUSH2A7399Usher syndrome 2A (autosomal recessive, mild)
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanRPGR6103retinitis pigmentosa GTPase regulator
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanPEX65190peroxisomal biogenesis factor 6
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanMYO7A4647myosin VIIA
INFERRED, Score=800, UMLKSK CUI: C1955603
HumanATP2B2491ATPase, Ca++ transporting, plasma membrane 2
INFERRED, Score=800, UMLKSK CUI: C1955603
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1955603Deaf-Blind Disorders0self