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Details
Link-It Detail - Disease - Macroglossia
Debug Stats
  • ### Total Build Time: 54 ms 29.885 KB
  • CONCEPT_NAME gt=19 ms Completed: 19 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 518 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 551 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 1.500 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 7.685 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 17.974 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Macroglossia C0024421
Definition (1)
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Tongue Diseases C0040409
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Mouth Diseases C00266364img Tongue Diseases C0040409
Relationships (17)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 14


Relationships:
none : 8
associated_​with : 1
isa : 5
location_​of : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO12img Amyloidosis C0002726
DISO_to_DISO11img Beckwith-Wiedemann Syndrome C0004903
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT8img Tongue C0040408
DISO_to_ANAT7img Tongue C0040408
DISO_to_DISO7img Amyloidosis C0002726
DISO_to_DISO7img Multiple Myeloma C0026764
DISO_to_ANATlocation_ofimg Tongue C0040408
DISO_to_DISOisaimg Acquired hypertrophy of tongue C0341025
DISO_to_DISOisaimg Beckwith-Wiedemann Syndrome C0004903
DISO_to_DISOmapped_toimg Congenital macroglossia C0009677
DISO_to_DISOisaimg Enlarged lingual tonsil C1400137
DISO_to_DISOisaimg Hypertroph tongue papill C0392494
DISO_to_DISOassociated_withimg Hypertrophy C0020564
DISO_to_DISOpermuted_term_ofimg Macroglossia C0024421
DISO_to_DISOisaimg O/E - macroglossia C0436892
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanPAX87849paired box 8
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanTSHB7252thyroid stimulating hormone, beta
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanSLC5A56528solute carrier family 5 (sodium/iodide cotransporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanINSR3643insulin receptor
img OMIM, Score=858, UMLKSK CUI: C0024421
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanHEXB3074hexosaminidase B (beta polypeptide)
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanGPC32719glypican 3
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanGAA2548glucosidase, alpha; acid
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanDNMT3B1789DNA (cytosine-5-)-methyltransferase 3 beta
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanCDKN1C1028cyclin-dependent kinase inhibitor 1C (p57, Kip2)
img OMIM, Score=1000, UMLKSK CUI: C0024421
HumanARSB411arylsulfatase B
img OMIM, Score=1000, UMLKSK CUI: C0024421
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0024421Macroglossia0self