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Details
Link-It Detail - Disease - Blepharophimosis
Debug Stats
  • ### Total Build Time: 116 ms 30.956 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 376 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 321 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=17 ms Completed: 17 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.067 KB
  • CONCEPT_RELATIONSHIPS gt=62 ms Completed: 62 ms rowSize= 13.018 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 10.855 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Blepharophimosis C0005744
Blepharophimoses
Definition (1)
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Eye Abnormalities C0015393
img Eyelid Diseases C0015423
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eye Abnormalities C00153933img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eyelid Diseases C00154233img Eyelid Diseases C0015423
Relationships (33)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 26
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 10
classifies : 1
mapped_​to : 21
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_CHEM30img Forkhead Box Proteins C0118111
DISO_to_DISO28img Blepharoptosis C0005745
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_ANAT23img Eyelid structure C0015426
DISO_to_DISO19img Blepharoptosis C0005745
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM12img Binding Protein, DNA C0012940
DISO_to_CHEM12img TRANSCRIPTION FACTOR C0040648
DISO_to_PHYS12img Mutation C0026882
DISO_to_DISOmapped_toimg ALAR-NASAL CARTILAGES, COLOBOMA OF, WITH TELECANTHUS C1859964
DISO_to_DISOmapped_toimg Acquired ankyloblepharon C0271318
DISO_to_DISOmapped_toimg Acquired blepharophimosis C0271317
DISO_to_DISOmapped_toimg Age-related blepharophimosis C0339078
DISO_to_DISOmapped_toimg Ankyloblepharon C0339182
DISO_to_DISOmapped_toimg Autosomal dominant blepharophimosis with multiple congenital anomalies C2931550
DISO_to_DISOmapped_toimg BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES C1833136
DISO_to_DISOpermuted_term_ofimg Blepharophimoses C0005744
DISO_to_DISOmapped_toimg Blepharophimosis radioulnar synostosis C2931162
DISO_to_DISOmapped_toimg Blepharophimosis syndrome Ohdo type C0796094
DISO_to_DISOmapped_toimg Blepharophimosis syndrome type 1 C2931135
DISO_to_DISOmapped_toimg Blepharophimosis syndrome type 2 C2931136
DISO_to_DISOmapped_toimg Blepharophimosis with ptosis, syndactyly, and short stature C1859432
DISO_to_DISOmapped_toimg CHROMOSOME 8q22.1 DELETION SYNDROME C1842464
DISO_to_DISOmapped_toimg Cicatricial blepharophimosis C0339080
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanSTRA664220stimulated by retinoic acid 6
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanBCOR54880BCL6 corepressor
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanPAX35077paired box 3
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanHSPG23339heparan sulfate proteoglycan 2
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanFOXL2668forkhead box L2
img GENERIF, Score=1000, Pubmed Id: 16283882, UMLKSK CUI: C0005744
img GENERIF, Score=1000, Pubmed Id: 11910558, UMLKSK CUI: C0005744
img GENERIF, Score=1000, Pubmed Id: 16131596, UMLKSK CUI: C0005744
img OMIM, Score=1000, UMLKSK CUI: C0005744
HumanATR545ataxia telangiectasia and Rad3 related
img OMIM, Score=1000, UMLKSK CUI: C0005744
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005744Blepharophimosis0self