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Details
Link-It Detail - Disease - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Debug Stats
  • ### Total Build Time: 44 ms 17.955 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 374 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=38 ms Completed: 38 ms rowSize= 12.863 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 3.484 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 C0796154
Relationships (79)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 78


Relationships:
expanded_​form_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 77
Page Size
Current 25
  Page 1 of 4
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg 13 pairs of thoracic ribs C1839270
DISO_to_DISOmanifestation_ofimg Accessory nipple C0266011
DISO_to_DISOmanifestation_ofimg Accessory spleen C0266631
DISO_to_DISOmanifestation_ofimg Accessory tragus C0266609
DISO_to_DISOmanifestation_ofimg Advanced bone age C0545053
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Birth head circumference greater than 97th percentile C1839273
DISO_to_DISOmanifestation_ofimg Birth length greater than 97th percentile C1839271
DISO_to_DISOmanifestation_ofimg Birth weight greater than 97th percentile C1839272
DISO_to_DISOmanifestation_ofimg Broad flat nasal bridge C1839764
DISO_to_DISOmanifestation_ofimg Broad secondary alveolar ridge C1839276
DISO_to_DISOmanifestation_ofimg Broad thumb C0426891
DISO_to_DISOmanifestation_ofimg Broad toes C1865038
DISO_to_DISOmanifestation_ofimg Broad, short feet C1850337
DISO_to_DISOmanifestation_ofimg Broad, short hands C1849956
DISO_to_DISOmanifestation_ofimg Cardiomyopathies C0878544
DISO_to_DISOmanifestation_ofimg Caused by mutation in the glypican 3 gene (GPC3, 300037.0001) C1839289
DISO_to_DISOmanifestation_ofimg Cerebellar vermis hypoplasia C1865061
DISO_to_DISOmanifestation_ofimg Cervical Rib C0158779
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Coccygeal defects C1839281
DISO_to_DISOmanifestation_ofimg Coccygeal skin tags C1839286
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=882, UMLKSK CUI: C0796154
HumanGPC32719glypican 3
img GENERIF, Score=1000, Pubmed Id: 17603795, UMLKSK CUI: C0796154
HumanCYP19A11588cytochrome P450, family 19, subfamily A, polypeptide 1
img GENERIF, Score=660, Pubmed Id: 18181018, UMLKSK CUI: C0796154
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0796154SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 10self