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Details
Link-It Detail - Disease - Bossed forehead
Debug Stats
  • ### Total Build Time: 33 ms 27.439 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 316 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=2 ms Completed: 2 ms rowSize= 1.861 KB
  • CONCEPT_GENES gt=26 ms Completed: 26 ms rowSize= 23.729 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Bossed forehead C0221354
Definition (1)
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Relationships (2)

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


Relationships:
associated_​with : 1
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Frontal Bone C0016732
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
Genes (51)

Species:
human : 51
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanEDARADD128178EDAR-associated death domain
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanEDAR10913ectodysplasin A receptor
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanCLINT19685clathrin interactor 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPREPL9581prolyl endopeptidase-like
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanSOX26657SRY (sex determining region Y)-box 2
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPEX75191peroxisomal biogenesis factor 7
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0221354
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0221354
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221354Bossed forehead0self