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Details
Link-It Detail - Disease - Hyperostosis, Cortical, Congenital
Debug Stats
  • ### Total Build Time: 68 ms 17.518 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 428 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 341 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 1.398 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.096 KB
  • CONCEPT_RELATIONSHIPS gt=31 ms Completed: 31 ms rowSize= 8.385 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 1.501 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hyperostosis, Cortical, Congenital C0020497
Cortical Congenital Hyperostosis
Definition (1)
A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Hyperostosis C0020492
img Infant, Newborn, Diseases C0021290
img Osteochondrodysplasias C0029422
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Hyperostosis C0020492
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
Relationships (16)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 2
diso_​to_​diso : 8
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
mapped_​to : 3
related_​to : 1
replaces : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_ANAT3img BONE BONES C0005931
DISO_to_CHEM3img (11alpha,13E,15S)-11,15-Dihydroxy-9-oxoprost-13-en-1-oic Acid C0002335
DISO_to_CHEM3img Collagen Type I C0041455
DISO_to_DISO3img Disease, Mandibular C0024689
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_PHYS3img Missense Mutation C0599155
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
DISO_to_DISOmapped_toimg Benign hyperostosis corticalis generalisata C2931308
DISO_to_DISOreplacesimg Bone Diseases C0005940
DISO_to_DISOentry_version_ofimg Cortical Congenital Hyperostosis C0020497
DISO_to_DISOmapped_toimg KENNY-CAFFEY SYNDROME, TYPE 1 C1855648
DISO_to_DISOmapped_toimg Kenny-Caffey syndrome C0265291
DISO_to_DISOrelated_toimg PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder) C1861980
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCOL1A11277collagen, type I, alpha 1
img GENERIF, Score=1000, Pubmed Id: 18704262, UMLKSK CUI: C0020497
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020497Hyperostosis, Cortical, Congenital0self