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Details
Link-It Detail - Disease - Achondrogenesis
Debug Stats
  • ### Total Build Time: 30 ms 9.283 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 242 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= 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=17 ms Completed: 17 ms rowSize= 3.744 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 3.763 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Achondrogenesis C0001079
Definition (1)
A rare group of disorders characterized by defective development of bones and cartilage.
Relationships (7)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 6


Relationships:
associated_​with : 1
isa : 5
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Skeletal system C0037253
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOisaimg ACG2 C0220685
DISO_to_DISOisaimg Achondrogenesis type 1A C0265273
DISO_to_DISOisaimg Achondrogenesis, type IB (disorder) C0265274
DISO_to_DISOisaimg Achondroplasia C0001080
DISO_to_DISOisaimg CAMPOMELIC DYSPLASIA C1861922
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSLC26A21836solute carrier family 26 (anion exchanger), member 2
img OMIM, Score=1000, UMLKSK CUI: C0001079
img OMIM, Score=1000, UMLKSK CUI: C0001079
img OMIM, Score=1000, UMLKSK CUI: C0001079
HumanCOL2A11280collagen, type II, alpha 1
img GENERIF, Score=660, Pubmed Id: 17994563, UMLKSK CUI: C0001079
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0001079Achondrogenesis0self