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Details
Link-It Detail - Disease - Congenital retrognathism
Debug Stats
  • ### Total Build Time: 22 ms 16.838 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 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=1 ms Completed: 1 ms rowSize= 2.013 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 13.047 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital retrognathism C0035353
Definition (1)
The condition or state of a person suffering from retrognathia.
Relationships (3)

Relation Types:
diso_​to_​diso : 3


Relationships:
isa : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOpermuted_term_ofimg Congenital retrognathism C0035353
DISO_to_DISOisaimg Mandibular retrognathism C0266077
DISO_to_DISOisaimg Maxillary retrognathism C0266078
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanMOGS7841mannosyl-oligosaccharide glucosidase
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanTGFBR17046transforming growth factor, beta receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanTBX16899T-box 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanPCNT5116pericentrin
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanIGBP13476immunoglobulin (CD79A) binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanHSD17B43295hydroxysteroid (17-beta) dehydrogenase 4
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanGBA2629glucosidase, beta, acid
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanEYA12138eyes absent homolog 1 (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 16691597, UMLKSK CUI: C0035353
HumanEP3002033E1A binding protein p300
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanCREBBP1387CREB binding protein
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C0035353
HumanACAA130acetyl-CoA acyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0035353
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035353Congenital retrognathism0self