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Details
Link-It Detail - Jax Mouse Phenotype - chondrodystrophy
Debug Stats
  • ### Total Build Time: 124 ms 18.835 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 284 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 174 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=5 ms Completed: 5 ms rowSize= 1.026 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 2.905 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=98 ms Completed: 98 ms rowSize= 12.798 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
chondrodystrophy MP:0002657
Definition (1)
abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk
Synonyms (1)
"chondrodysplasia" EXACT
Parents (2)
img abnormal cartilage development MP:0000164
img abnormal skeleton development MP:0002113
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img skeleton phenotype MP:00053906img abnormal cartilage development MP:0000164
img mammalian phenotype MP:0000001img skeleton phenotype MP:00053905img abnormal skeleton development MP:0002113
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanCOL27A185301collagen, type XXVII, alpha 1
Click here to display 42 evidence detail records.
HumanWLS79971wntless homolog (Drosophila)
Click here to display 42 evidence detail records.
HumanCREB3L264764cAMP responsive element binding protein 3-like 2
Click here to display 42 evidence detail records.
HumanHHAT55733hedgehog acyltransferase
Click here to display 42 evidence detail records.
HumanSLC35D123169solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
Click here to display 42 evidence detail records.
HumanCHSY122856chondroitin sulfate synthase 1
Click here to display 42 evidence detail records.
HumanPAPSS290603'-phosphoadenosine 5'-phosphosulfate synthase 2
Click here to display 42 evidence detail records.
HumanMBTPS18720membrane-bound transcription factor peptidase, site 1
Click here to display 42 evidence detail records.
HumanSOX56660SRY (sex determining region Y)-box 5
Click here to display 42 evidence detail records.
HumanPTHLH5744parathyroid hormone-like hormone
Click here to display 42 evidence detail records.
HumanPKD15310polycystic kidney disease 1 (autosomal dominant)
Click here to display 42 evidence detail records.
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
Click here to display 42 evidence detail records.
HumanMSX24488msh homeobox 2
Click here to display 42 evidence detail records.
HumanILK3611integrin-linked kinase
Click here to display 42 evidence detail records.
HumanIHH3549indian hedgehog
Click here to display 42 evidence detail records.
HumanHSPG23339heparan sulfate proteoglycan 2
Click here to display 42 evidence detail records.
HumanCTGF1490connective tissue growth factor
Click here to display 42 evidence detail records.
HumanATF21386activating transcription factor 2
Click here to display 42 evidence detail records.
HumanCOL2A11280collagen, type II, alpha 1
Click here to display 42 evidence detail records.
HumanBMPR1B658bone morphogenetic protein receptor, type IB
Click here to display 42 evidence detail records.
HumanBMPR1A657bone morphogenetic protein receptor, type IA
Click here to display 42 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0002657chondrodystrophy0self