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Details
Link-It Detail - Disease - BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS
Debug Stats
  • ### Total Build Time: 14 ms 9.897 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 378 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 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=9 ms Completed: 9 ms rowSize= 6.925 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.359 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.174 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS C1851102
Relationships (15)

Relation Types:
diso_​to_​diso : 15


Relationships:
alias_​of : 1
manifestation_​of : 13
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absent superior division of oculomotor nerve and corresponding alpha motor neurons C1851103
DISO_to_DISOalias_ofimg BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS C1851102
DISO_to_DISOmanifestation_ofimg Bilateral infraducted eye position (downward gaze) C1851105
DISO_to_DISOmanifestation_ofimg Bilateral ptosis C1865916
DISO_to_DISOmanifestation_ofimg Caused by mutation in the kinesin family member 21A gene (KIF21A, 608283.0001) C1851109
DISO_to_DISOmanifestation_ofimg Compensatory chin elevation C1846911
DISO_to_DISOmanifestation_ofimg Congenital fibrosis of extraocular muscles C1846912
DISO_to_DISOmanifestation_ofimg Esotropia, Secondary C0339624
DISO_to_DISOmanifestation_ofimg Exotropia, Secondary C0339636
DISO_to_DISOrelated_toimg FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) C2751105
DISO_to_DISOmanifestation_ofimg Inability to raise eyes above midline C1851106
DISO_to_DISOmanifestation_ofimg Levator palpebrae superioris atrophy C1851107
DISO_to_DISOmanifestation_ofimg Rectus superior atrophy C1851108
DISO_to_DISOmanifestation_ofimg Restrictive external ophthalmoplegia, bilateral C2675435
DISO_to_DISOmanifestation_ofimg Some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having CFEOM3 (CFEOM3B) C2751106
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPHOX2A401paired-like homeobox 2a
img OMIM, Score=1000, UMLKSK CUI: C1851102
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1851102BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS0self