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Details
Link-It Detail - Disease - Fibrous Dysplasia, Polyostotic
Debug Stats
  • ### Total Build Time: 34 ms 18.896 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 351 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.510 KB
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 13.373 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.333 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fibrous Dysplasia, Polyostotic C0016065
Definition (1)
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Fibrous Dysplasia of Bone C0016063
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Fibrous Dysplasia of Bone C0016063
Relationships (33)

Relation Types:
diso_​to_​anat : 10
diso_​to_​chem : 4
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 24
classifies : 2
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
location_​of : 1
mapped_​to : 3
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO77img Complication Aspects C1171258
DISO_to_DISO68img Complication Aspects C1171258
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM26img GTP-Binding Protein alpha Subunits, Gs C0086903
DISO_to_CHEM23img GTP-Binding Protein alpha Subunits, Gs C0086903
DISO_to_ANAT22img Bone structure of cranium C0037303
DISO_to_ANAT21img Bone structure of face C0015455
DISO_to_ANAT17img Bone structure of face C0015455
DISO_to_DISO17img Precocious Puberty C0034013
DISO_to_ANAT15img Bone structure of cranium C0037303
DISO_to_DISO14img Precocious Puberty C0034013
DISO_to_DISO10img Acromegaly C0001206
DISO_to_DISO10img Fibrous Dysplasia of Bone C0016063
DISO_to_ANAT9img BONE BONES C0005931
DISO_to_CHEM9img Diphosphonates C0012544
DISO_to_DISO9img Pseudohypoparathyroidism C0033806
DISO_to_ANAT8img In Blood C0005768
DISO_to_DISO8img Fibrous Dysplasia of Bone C0016063
DISO_to_DISO8img Pseudohypoparathyroidism C0033806
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img In Blood C0005768
DISO_to_CHEM7img Diphosphonates C0012544
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGNAS2778GNAS complex locus
img OMIM, Score=1000, UMLKSK CUI: C0016065
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016065Fibrous Dysplasia, Polyostotic0self