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Details
Link-It Detail - Disease - Night Blindness
Debug Stats
  • ### Total Build Time: 210 ms 38.493 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 254 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=7 ms Completed: 7 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.061 KB
  • CONCEPT_RELATIONSHIPS gt=164 ms Completed: 164 ms rowSize= 13.303 KB
  • CONCEPT_GENES gt=23 ms Completed: 23 ms rowSize= 18.654 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Night Blindness C0028077
Definition (1)
An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Vision Disorders C0042790
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Vision Disorders C00427903img Vision Disorders C0042790
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Vision Disorders C0042790
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Vision Disorders C0042790
Relationships (52)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 29
diso_​to_​diso : 16
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 17
classifies : 1
isa : 2
mapped_​to : 6
may_​treat : 25
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN66img genetic aspects C0017399
DISO_to_PHEN63img genetic aspects C0017399
DISO_to_PHYS21img Mutation C0026882
DISO_to_PHYS19img Mutation C0026882
DISO_to_DISO18img DEFIC VITAMIN A C0042842
DISO_to_DISO17img Myopia C0027092
DISO_to_DISO15img DEFIC VITAMIN A C0042842
DISO_to_ANAT14img Retina C0035298
DISO_to_ANAT11img Retinal Cone C0206428
DISO_to_CHEM11img Calcium Channel, L-Type C0288263
DISO_to_CHEM10img Alcohol Oxidoreductases C0001954
DISO_to_DISO10img DEGENERATION OF RETINA C0035304
DISO_to_CHEM9img Proteoglycan C0033692
DISO_to_CHEM9img Vitamin A C0042839
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISO9img Retinal Diseases C0035309
DISO_to_PHYS9img Mutation, Missense C0599155
DISO_to_CHEMmay_treatimg A/Fish Oil, 25000 u oral capsule C0981054
DISO_to_CHEMmay_treatimg Cod Liver Oil C0009213
DISO_to_CHEMmay_treatimg VITAMIN A (AS ACETATE & BETA CAROTENE) C0982451
DISO_to_CHEMmay_treatimg VITAMIN A (AS PALMITATE & BETA CAROTENE) C0982452
DISO_to_CHEMmay_treatimg VITAMIN A (NATURAL) C1572481
DISO_to_CHEMmay_treatimg VITAMIN A 10,000 IU Oral (systemic) softgel C0981036
DISO_to_CHEMmay_treatimg VITAMIN A 1000 UNT CAP C0981037
DISO_to_CHEMmay_treatimg VITAMIN A 15,000 IU Oral (systemic) softgel C0981039
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
img OMIM, Score=882, UMLKSK CUI: C0028077
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
img OMIM, Score=716, UMLKSK CUI: C0028077
HumanPRPF810594pre-mRNA processing factor 8
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanMERTK10461c-mer proto-oncogene tyrosine kinase
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanNR2E310002nuclear receptor subfamily 2, group E, member 3
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanPRPF39129pre-mRNA processing factor 3
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanCLRN17401clarin 1
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanUSH2A7399Usher syndrome 2A (autosomal recessive, mild)
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRP26102retinitis pigmentosa 2 (X-linked recessive)
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRP16101retinitis pigmentosa 1 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRP96100retinitis pigmentosa 9 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRLBP16017retinaldehyde binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0028077
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRHO6010rhodopsin
img GENERIF, Score=673, Pubmed Id: 12590587, UMLKSK CUI: C0028077
HumanPRPH25961peripherin 2 (retinal degeneration, slow)
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanRDH55959retinol dehydrogenase 5 (11-cis/9-cis)
img GENERIF, Score=1000, Pubmed Id: 16637847, UMLKSK CUI: C0028077
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanIMPDH13614IMP (inosine 5'-monophosphate) dehydrogenase 1
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanGRM62916glutamate receptor, metabotropic 6
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanCRX1406cone-rod homeobox
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanCNGB11258cyclic nucleotide gated channel beta 1
img OMIM, Score=1000, UMLKSK CUI: C0028077
HumanCHM1121choroideremia (Rab escort protein 1)
img OMIM, Score=1000, UMLKSK CUI: C0028077
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028077Night Blindness0self