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Details
Link-It Detail - Disease - Cryptophthalmos syndrome
Debug Stats
  • ### Total Build Time: 143 ms 17.642 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 300 bytes
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  • 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=125 ms Completed: 125 ms rowSize= 12.474 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 3.309 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cryptophthalmos syndrome C0265233
Definition (1)
A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.
Relationships (41)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 39
diso_​to_​phen : 1


Relationships:
none : 2
alias_​of : 1
manifestation_​of : 38
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM4img Extracellular Matrix Protein C0079323
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Absent or malformed lacrimal ducts C1857457
DISO_to_DISOmanifestation_ofimg Atresia of larynx C0265756
DISO_to_DISOmanifestation_ofimg Atresia of vagina C1321884
DISO_to_DISOmanifestation_ofimg Bicornuate uterus C0266387
DISO_to_DISOmanifestation_ofimg Blind Vision C0456909
DISO_to_DISOmanifestation_ofimg Blindness C0456909
DISO_to_DISOmanifestation_ofimg Broad, low nasal bridge C1857459
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg CLITORAL ENLARGEMENT C0156394
DISO_to_DISOmanifestation_ofimg Caused by mutations in the FRAS1 gene (607830.0001) or the FREM2 gene (608945.0001) C1857463
DISO_to_DISOmanifestation_ofimg Cleft Lip C0008924
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Conductive hearing loss C0018777
DISO_to_DISOmanifestation_ofimg Congenital cerebral hernia C0014065
DISO_to_DISOmanifestation_ofimg Cryptophthalmia C0311249
DISO_to_DISOalias_ofimg Cryptophthalmos syndrome C0265233
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Encephalocele C0014065
DISO_to_DISOmanifestation_ofimg External ear malformations C1846460
DISO_to_DISOmanifestation_ofimg Hypertelorism C0020534
DISO_to_DISOmanifestation_ofimg Hypoplastic, notched nares C1857458
DISO_to_DISOmanifestation_ofimg Hypospadias C0848558
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img GENERIF, Score=1000, Pubmed Id: 18203166, UMLKSK CUI: C0265233
img GENERIF, Score=1000, Pubmed Id: 18671281, UMLKSK CUI: C0265233
HumanFRAS180144Fraser syndrome 1
img GENERIF, Score=1000, Pubmed Id: 18671281, UMLKSK CUI: C0265233
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265233Cryptophthalmos syndrome0self