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Details
Link-It Detail - Disease - Prognathism
Debug Stats
  • ### Total Build Time: 90 ms 36.380 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 357 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 231 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=12 ms Completed: 12 ms rowSize= 990 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=26 ms Completed: 26 ms rowSize= 10.510 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 7.693 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 15.269 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Prognathism C0033324
Big jaw
Definition (1)
A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Mandibular Diseases C0024689
img Jaw Abnormalities C0022360
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Jaw Diseases C00223624img Mandibular Diseases C0024689
img Musculoskeletal Diseases C0026857img Jaw Diseases C00223624img Mandibular Diseases C0024689
img Stomatognathic Diseases C0038368img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514916img Jaw Abnormalities C0022360
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430575img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Jaw Abnormalities C0022360
Relationships (17)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 12


Relationships:
none : 10
associated_​with : 1
isa : 2
location_​of : 1
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT72img Mandible C0024687
DISO_to_ANAT43img Mandible C0024687
DISO_to_DISO26img Class III malocclusion C0399526
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_DISO15img Class III malocclusion C0399526
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_ANAT12img Mandibular Condyle C0024688
DISO_to_ANAT11img Maxilla C0024947
DISO_to_DISO11img Facial Asymmetry C1306710
DISO_to_DISO10img Malocclusion C0024636
DISO_to_ANATlocation_ofimg Jaw C0022359
DISO_to_DISOisaimg 'HABSBURG JAW' C0266075
DISO_to_DISOpermuted_term_ofimg Big jaw C0033324
DISO_to_DISOmapped_toimg Blepharophimosis radioulnar synostosis C2931162
DISO_to_DISOassociated_withimg Congenital forward deviation C0332947
DISO_to_DISOmapped_toimg MICROPHTHALMIA, SYNDROMIC 8 C1832440
DISO_to_DISOisaimg Maxillary prognathism C0266076
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanANKH56172ANKH inorganic pyrophosphate transport regulator
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanDYM54808dymeclin
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanSOST50964sclerostin
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanSNX38724sorting nexin 3
img OMIM, Score=1000, UMLKSK CUI: C0033324
img GENERIF, Score=694, Pubmed Id: 12471201, UMLKSK CUI: C0033324
HumanKDM5C8242lysine (K)-specific demethylase 5C
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanUBE3A7337ubiquitin protein ligase E3A
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanSTAT36774signal transducer and activator of transcription 3 (acute-phase response factor)
img OMIM, Score=833, UMLKSK CUI: C0033324
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanINSR3643insulin receptor
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanGLB12720galactosidase, beta 1
img OMIM, Score=1000, UMLKSK CUI: C0033324
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
img OMIM, Score=1000, UMLKSK CUI: C0033324
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033324Prognathism0self