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Details
Link-It Detail - Disease - Albinism, Ocular
Debug Stats
  • ### Total Build Time: 36 ms 28.722 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 480 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=0 Completed: 0 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 544 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=15 ms Completed: 15 ms rowSize= 7.922 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 6.246 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 11.859 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Albinism, Ocular C0078917
Definition (1)
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Albinism C0001916
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Albinism C0001916
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Albinism C0001916
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Albinism C0001916
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Albinism C0001916
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Albinism C0001916
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Albinism C0001916
Relationships (13)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 8
diso_​to_​phen : 2


Relationships:
none : 6
isa : 4
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO15img Albinism, Oculocutaneous C0078918
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_CHEM10img Cell Surface Glycoprotein C0025248
DISO_to_CHEM10img Eye Proteins C0015416
DISO_to_CHEM9img Eye Proteins C0015416
DISO_to_DISOmapped_toimg ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) C1845069
DISO_to_DISOisaimg Aland eye disease AND ocular albinism C1263179
DISO_to_DISOpermuted_term_ofimg Albinism, Ocular C0078917
DISO_to_DISOmapped_toimg Albinism, minimal pigment type C2931403
DISO_to_DISOisaimg Autosomal recessive ocular albinism C0268503
DISO_to_DISOisaimg Ocular albinism, type I C0342684
DISO_to_DISOisaimg Ocular albinism-lentigines-deafness syndrome C0268504
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanHPS511234Hermansky-Pudlak syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img OMIM, Score=1000, UMLKSK CUI: C0078917
HumanTYR7299tyrosinase
img GAD, Score=1000, Pubmed Id: 7704033, UMLKSK CUI: C0078917
HumanGPR1434935G protein-coupled receptor 143
img GENERIF, Score=901, Pubmed Id: 16754205, UMLKSK CUI: C0078917
img GENERIF, Score=1000, Pubmed Id: 17516023, UMLKSK CUI: C0078917
img GENERIF, Score=861, Pubmed Id: 11793467, UMLKSK CUI: C0078917
img GENERIF, Score=1000, Pubmed Id: 12868035, UMLKSK CUI: C0078917
img GENERIF, Score=694, Pubmed Id: 16646960, UMLKSK CUI: C0078917
HumanHPS13257Hermansky-Pudlak syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0078917
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0078917Albinism, Ocular0self