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Details
Link-It Detail - Disease - ODONTOID HYPOPLASIA
Debug Stats
  • ### Total Build Time: 28 ms 12.628 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 485 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=4 ms Completed: 4 ms rowSize= 1.836 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 8.767 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ODONTOID HYPOPLASIA C1846439
Definition (1)
An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.
Relationships (2)

Relation Types:
diso_​to_​anat : 2


Relationships:
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanDYM54808dymeclin
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanGUSB2990glucuronidase, beta
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanGLB12720galactosidase, beta 1
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanFLNB2317filamin B, beta
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanFGD12245FYVE, RhoGEF and PH domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanCOMP1311cartilage oligomeric matrix protein
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C1846439
HumanARSB411arylsulfatase B
img OMIM, Score=1000, UMLKSK CUI: C1846439
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1846439ODONTOID HYPOPLASIA0self