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Details
Link-It Detail - Disease - Microstomia
Debug Stats
  • ### Total Build Time: 26 ms 20.162 KB
  • CONCEPT_NAME gt=3 ms Completed: 2 ms rowSize= 320 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=2 ms Completed: 2 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 6.431 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 7.171 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Microstomia C0026034
Definition (1)
A congenital defect in which the mouth is unusually small. (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 (13)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 11


Relationships:
none : 6
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
location_​of : 1
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISO6img Burn injury C0006434
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_ANAT5img Surgical Flaps C0038925
DISO_to_DISO5img Facial Injuries C0015459
DISO_to_DISO5img Scleroderma, Systemic C0036421
DISO_to_ANATlocation_ofimg Mouth C0226896
DISO_to_DISOmapped_toimg Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment C2931718
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOassociated_withimg Congenital smallness C0332898
DISO_to_DISOexpanded_form_ofimg Microstomia C0026034
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Samson Viljoen syndrome C2931449
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanMMP14312matrix metallopeptidase 1 (interstitial collagenase)
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanHSPG23339heparan sulfate proteoglycan 2
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanGBA2629glucosidase, beta, acid
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanCOL7A11294collagen, type VII, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0026034
HumanBMPR1A657bone morphogenetic protein receptor, type IA
img OMIM, Score=1000, UMLKSK CUI: C0026034
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0026034Microstomia0self