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Details
Link-It Detail - Disease - Hypoplasia of the optic nerve
Debug Stats
  • ### Total Build Time: 60 ms 12.611 KB
  • CONCEPT_NAME gt=3 ms Completed: 2 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 236 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 4.513 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 6.287 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypoplasia of the optic nerve C0338502
Definition (1)
A congenital abnormality characterized by the underdevelopment of the optic nerve.
Relationships (8)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 5


Relationships:
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 2
isa : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Cranial Nerves C0010268
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Optic Nerve C0029130
DISO_to_DISOisaimg Hypoplasia of optic disc C1298695
DISO_to_DISOexpanded_form_ofimg Hypoplasia of the optic nerve C0338502
DISO_to_DISOisaimg Partial hypoplasia of optic disc C0338500
DISO_to_DISOisaimg Sectorial hypoplasia of optic disc C0338501
DISO_to_DISOisaimg Septo-Optic Dysplasia C0338503
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanSOX26657SRY (sex determining region Y)-box 2
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanPAX65080paired box 6
img OMIM, Score=1000, UMLKSK CUI: C0338502
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0338502
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0338502Hypoplasia of the optic nerve0self