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Details
Link-It Detail - Disease - Cryptophthalmos syndrome
Debug Stats
  • ### Total Build Time: 151 ms 17.759 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= 406 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=118 ms Completed: 118 ms rowSize= 12.485 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 3.311 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cryptophthalmos syndrome C0265233
Definition (1)
Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Relationships (40)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 37
diso_​to_​phen : 1


Relationships:
none : 3
manifestation_​of : 36
related_​to : 1
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_CHEM4img Extracellular Matrix Proteins 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 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_DISOrelated_toimg 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: 18671281, UMLKSK CUI: C0265233
img GENERIF, Score=1000, Pubmed Id: 18203166, 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