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Details
Link-It Detail - Disease - PARIETAL FORAMINA
Debug Stats
  • ### Total Build Time: 70 ms 13.560 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 332 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=1 ms Completed: 1 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=42 ms Completed: 42 ms rowSize= 6.106 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 5.907 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PARIETAL FORAMINA C1868598
Relationships (13)

Relation Types:
diso_​to_​diso : 12
diso_​to_​phys : 1


Relationships:
alias_​of : 1
manifestation_​of : 11
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg Caused by mutation in the homolog of the drosophila muscle segment homeo box-2 gene (MSX2, 123101.0002) C1868600
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Congenital cerebral hernia C0014065
DISO_to_DISOmanifestation_ofimg Headache C0018681
DISO_to_DISOalias_ofimg PARIETAL FORAMINA C1868598
DISO_to_DISOrelated_toimg PARIETAL FORAMINA 1 C1868599
DISO_to_DISOmanifestation_ofimg Parietal foramina-2 (PFM2, 609597) are caused by mutations in the ALX4 gene (605420) C1868601
DISO_to_DISOmanifestation_ofimg Scalp defect C1865046
DISO_to_DISOmanifestation_ofimg See also PFM3 on chromosome 4q21-q23 (609566) C1868602
DISO_to_DISOmanifestation_ofimg Seizures C0036572
DISO_to_DISOmanifestation_ofimg Symmetrical, oval parietal bone defects C1865045
DISO_to_PHYSmanifestation_ofimg GENET HETEROGENEITY C0242960
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanALX460529ALX homeobox 4
img GENERIF, Score=1000, Pubmed Id: 15852040, UMLKSK CUI: C1868598
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C1868598
HumanMSX24488msh homeobox 2
img GENERIF, Score=1000, Pubmed Id: 16642368, UMLKSK CUI: C1868598
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C1868598
HumanEP3002033E1A binding protein p300
img OMIM, Score=1000, UMLKSK CUI: C1868598
HumanCREBBP1387CREB binding protein
img OMIM, Score=1000, UMLKSK CUI: C1868598
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1868598PARIETAL FORAMINA0self