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Details
Link-It Detail - Disease - Leber Congenital Amaurosis
Debug Stats
  • ### Total Build Time: 106 ms 50.438 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 504 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=8 ms Completed: 8 ms rowSize= 994 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.090 KB
  • CONCEPT_RELATIONSHIPS gt=50 ms Completed: 50 ms rowSize= 9.426 KB
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 33.739 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leber Congenital Amaurosis C0339527
Definition (1)
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Eye Diseases, Hereditary C0015398
img Retinal Diseases C0035309
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Eye Diseases C0015397img Retinal Diseases C00353093img Retinal Diseases C0035309
Relationships (21)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 13
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 10
mapped_​to : 9
permuted_​term_​of : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN81img genetic aspects C0017399
DISO_to_CHEM37img Eye Proteins C0015416
DISO_to_CHEM28img Carrier Protein C0007292
DISO_to_PHYS23img Mutation C0026882
DISO_to_DISO12img Retinitis Pigmentosa C0035334
DISO_to_ANAT10img Retinal Cone C0206428
DISO_to_ANAT8img Retina C0035298
DISO_to_CHEM8img ANTIGENS NEOPL C0003335
DISO_to_CHEM8img NEOPL PROTEINS C0027642
DISO_to_DISO8img Animal Disease Models C0012644
DISO_to_DISOmapped_toimg Amaurosis congenita of Leber, 3 C2931386
DISO_to_DISOmapped_toimg Amaurosis congenita of Leber, 4 C2931387
DISO_to_DISOmapped_toimg Amaurosis congenita of Leber, type 1 C2931258
DISO_to_DISOmapped_toimg Amaurosis hypertrichosis C1857588
DISO_to_DISOused_forimg Blind Vision C0456909
DISO_to_DISOmapped_toimg LEBER CONGENITAL AMAUROSIS 3 (disorder) C1858677
DISO_to_DISOmapped_toimg LEBER CONGENITAL AMAUROSIS 5 C1858301
DISO_to_DISOmapped_toimg LEBER CONGENITAL AMAUROSIS 9 (disorder) C1837873
DISO_to_DISOmapped_toimg LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) C1859844
DISO_to_DISOpermuted_term_ofimg Leber Congenital Amaurosis C0339527
DISO_to_DISOmapped_toimg Renal dysplasia and retinal aplasia (disorder) C0403553
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanLCA5167691Leber congenital amaurosis 5
img GENERIF, Score=1000, Pubmed Id: 18334959, UMLKSK CUI: C0339527
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
img GAD, Score=1000, Pubmed Id: 15322982, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 17512964, UMLKSK CUI: C0339527
img GENERIF, Score=923, Pubmed Id: 18779497, UMLKSK CUI: C0339527
HumanNXNL1115861nucleoredoxin-like 1
img GENERIF, Score=1000, Pubmed Id: 17249548, UMLKSK CUI: C0339527
HumanCEP29080184centrosomal protein 290kDa
img GENERIF, Score=1000, Pubmed Id: 17554762, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 16909394, UMLKSK CUI: C0339527
img OMIM, Score=695, UMLKSK CUI: C0339527
img GENERIF, Score=679, Pubmed Id: 18079693, UMLKSK CUI: C0339527
img OMIM, Score=695, UMLKSK CUI: C0339527
HumanRPGRIP157096retinitis pigmentosa GTPase regulator interacting protein 1
img GENERIF, Score=701, Pubmed Id: 17306875, UMLKSK CUI: C0339527
HumanNUB151667negative regulator of ubiquitin-like proteins 1
img GENERIF, Score=1000, Pubmed Id: 15081406, UMLKSK CUI: C0339527
HumanAIPL123746aryl hydrocarbon receptor interacting protein-like 1
img GAD, Score=1000, Pubmed Id: 15249368, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 15249368, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 15081406, UMLKSK CUI: C0339527
img GENERIF, Score=884, Pubmed Id: 11548141, UMLKSK CUI: C0339527
HumanCRB123418crumbs homolog 1 (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 12567265, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 16936081, UMLKSK CUI: C0339527
img GAD, Score=1000, Pubmed Id: 11231775, UMLKSK CUI: C0339527
HumanLRAT9227lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
img GENERIF, Score=1000, Pubmed Id: 17438524, UMLKSK CUI: C0339527
HumanTULP17287tubby like protein 1
img GENERIF, Score=1000, Pubmed Id: 17962469, UMLKSK CUI: C0339527
HumanELOVL46785ELOVL fatty acid elongase 4
img GENERIF, Score=1000, Pubmed Id: 12592226, UMLKSK CUI: C0339527
HumanRPE656121retinal pigment epithelium-specific protein 65kDa
img GENERIF, Score=756, Pubmed Id: 12357075, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 11462243, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 18766986, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 15837919, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 18484312, UMLKSK CUI: C0339527
HumanPDC5132phosducin
img GENERIF, Score=1000, Pubmed Id: 14758335, UMLKSK CUI: C0339527
HumanNRL4901neural retina leucine zipper
img GENERIF, Score=1000, Pubmed Id: 12552256, UMLKSK CUI: C0339527
HumanIMPDH13614IMP (inosine 5'-monophosphate) dehydrogenase 1
img GENERIF, Score=1000, Pubmed Id: 16384941, UMLKSK CUI: C0339527
HumanGUCY2D3000guanylate cyclase 2D, membrane (retina-specific)
img GENERIF, Score=1000, Pubmed Id: 15512997, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 12623820, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 12365911, UMLKSK CUI: C0339527
HumanCRX1406cone-rod homeobox
img GENERIF, Score=1000, Pubmed Id: 11910559, UMLKSK CUI: C0339527
img GENERIF, Score=983, Pubmed Id: 17347810, UMLKSK CUI: C0339527
img GAD, Score=1000, Pubmed Id: 10892846, UMLKSK CUI: C0339527
img GENERIF, Score=1000, Pubmed Id: 11748859, UMLKSK CUI: C0339527
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0339527Leber Congenital Amaurosis0self