Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Cherubism
Debug Stats
  • ### Total Build Time: 151 ms 32.346 KB
  • CONCEPT_NAME gt=7 ms Completed: 6 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 329 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=6 ms Completed: 6 ms rowSize= 1.835 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 10.602 KB
  • CONCEPT_RELATIONSHIPS gt=104 ms Completed: 104 ms rowSize= 13.384 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 4.533 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cherubism C0008029
Definition (1)
A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Jaw Diseases C0022362
img Genetic Diseases, Inborn C0950123
img Maxillofacial Abnormalities C0524948
img Fibrous Dysplasia of Bone C0016063
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Jaw Diseases C00223623img Jaw Diseases C0022362
img Musculoskeletal Diseases C0026857img Jaw Diseases C00223623img Jaw Diseases C0022362
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Maxillofacial Abnormalities C0524948
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Maxillofacial Abnormalities C0524948
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Maxillofacial Abnormalities C0524948
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430574img Maxillofacial Abnormalities C0524948
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Fibrous Dysplasia of Bone C0016063
Relationships (38)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 32
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
associated_​with : 2
location_​of : 2
manifestation_​of : 26
mapped_​to : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_CHEM16img Adaptor Proteins, Signal Transducing C1449886
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_CHEM7img Adaptor Proteins, Signal Transducing C1449886
DISO_to_ANATlocation_ofimg Jaw C0022359
DISO_to_ANATlocation_ofimg Structure of angle of mandible C0222753
DISO_to_DISOassociated_withimg 74 DYSPLASIAS C0334044
DISO_to_DISOmanifestation_ofimg APD - Afferent pupillary defect C0339662
DISO_to_DISOmanifestation_ofimg Agenesis of teeth C1861659
DISO_to_DISOmapped_toimg Al Gazali Khidr Prem Chandran syndrome C2930951
DISO_to_DISOmanifestation_ofimg Broad cheeks due to facial swelling C1861650
DISO_to_DISOmapped_toimg CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH C0796133
DISO_to_DISOmanifestation_ofimg Caused by mutation in the SH3 domain-binding protein-2 gene (SH3BP2, 602104.0001) C1861663
DISO_to_DISOalias_ofimg Cherubism C0008029
DISO_to_DISOmanifestation_ofimg Decreased visual acuity C0234632
DISO_to_DISOmanifestation_ofimg Depressed visual field C1861657
DISO_to_DISOmanifestation_ofimg Disorder of the optic nerve C0029132
DISO_to_DISOmanifestation_ofimg Displaced teeth C1852504
DISO_to_DISOmanifestation_ofimg Enlarged submandibular lymph nodes C1264056
DISO_to_DISOmanifestation_ofimg Exophthalmos C0015300
DISO_to_DISOassociated_withimg Familial disease C0277558
DISO_to_DISOmanifestation_ofimg Histology shows multiple osteoclast-like cells in a fibrous and cellular stroma C1861662
DISO_to_DISOmanifestation_ofimg Hypodontia C0020608
DISO_to_DISOmanifestation_ofimg Loss of bone and replacement by fibrous tissue restricted to jaw C1861660
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSRC6714v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 16465417, UMLKSK CUI: C0008029
HumanSH3BP26452SH3-domain binding protein 2
img GENERIF, Score=1000, Pubmed Id: 17147794, UMLKSK CUI: C0008029
img GENERIF, Score=1000, Pubmed Id: 17321449, UMLKSK CUI: C0008029
img GENERIF, Score=694, Pubmed Id: 18596838, UMLKSK CUI: C0008029
img GENERIF, Score=1000, Pubmed Id: 16802602, UMLKSK CUI: C0008029
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008029Cherubism0self