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Details
Link-It Detail - Disease - Macrostomia
Debug Stats
  • ### Total Build Time: 27 ms 18.927 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 381 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=5 ms Completed: 5 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 5.909 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.260 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Macrostomia C0024433
Congenital macrostomia
Definition (1)
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Mouth Abnormalities C0026633
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430574img Mouth Abnormalities C0026633
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Mouth Abnormalities C0026633
img Stomatognathic Diseases C0038368img Mouth Diseases C00266364img Mouth Abnormalities C0026633
Relationships (11)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 9


Relationships:
none : 2
associated_​with : 1
classifies : 2
isa : 1
location_​of : 1
mapped_​to : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT4img Lip C0023759
DISO_to_DISO4img Complication Aspects C1171258
DISO_to_ANATlocation_ofimg Mouth C0226896
DISO_to_DISOmapped_toimg ABLEPHARON-MACROSTOMIA SYNDROME C1860224
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Barber Say syndrome C1319466
DISO_to_DISOisaimg Bilateral congenital macrostomia C0266622
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOpermuted_term_ofimg Congenital macrostomia C0024433
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Unilateral congenital macrostomia C0266621
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanUBE3A7337ubiquitin protein ligase E3A
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanTCOF16949Treacher Collins-Franceschetti syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanGPC32719glypican 3
img OMIM, Score=1000, UMLKSK CUI: C0024433
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img OMIM, Score=1000, UMLKSK CUI: C0024433
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0024433Macrostomia0self