Endochondral ossification with skeletal dysplasias (WP4808)

Taken from existing [[Pathway:WP474|Endochondral Ossification pathway]]. Added diseases linked with a dotted arrow to GeneProduct nodes, dotted arrow indicates what diseases are caused by mutation in the respective genes.
last edited


Rlee and Eweitz

Cited In


Homo sapiens


Skeletal Dysplasia


Cell Type Ontology: osteoclast obsolete osteochondroclast chondrocyte

Pathway Ontology: regulatory pathway


Label Type Compact Identifier
AKP2 GeneProduct ncbigene:249
Osteopontin GeneProduct ncbigene:6696
FGFR3 GeneProduct ncbigene:2261
MMP13 GeneProduct ncbigene:4322
Aggrecan GeneProduct ncbigene:176
BMPR1A GeneProduct ncbigene:657
IHH GeneProduct ncbigene:3549
FGFR1 GeneProduct ncbigene:2260
IGF2 GeneProduct ncbigene:3481
BMP6 GeneProduct ncbigene:654
IGF1 GeneProduct ncbigene:3479
SLC38A2 GeneProduct ncbigene:54407
Oxygen Metabolite hmdb:HMDB0001377
TGFBI GeneProduct ncbigene:7040
Triiodothyronine Metabolite chebi:24864
CAB39 GeneProduct ncbigene:51719
MEF2C GeneProduct ncbigene:4208
COL2A1 GeneProduct ncbigene:1280
ADAMTS5 GeneProduct ncbigene:11096
RUNX3 GeneProduct ncbigene:864
PTH GeneProduct ncbigene:5741
FGF18 GeneProduct ncbigene:8817
CALM1 GeneProduct ncbigene:801
Thyroid hormone Metabolite chebi:60311
Adseverin GeneProduct ncbigene:85477
RUNX2 GeneProduct ncbigene:860
FGF2 GeneProduct ncbigene:2247
SOX6 GeneProduct ncbigene:55553
PTCH GeneProduct ncbigene:5727
NPP1 GeneProduct ncbigene:5167
PKA GeneProduct ncbigene:5566
KIF3A GeneProduct ncbigene:11127
PTCH1 GeneProduct ncbigene:5727
TNAP GeneProduct ncbigene:445341
RUNX2 GeneProduct ncbigene:860
C4ST1 GeneProduct ncbigene:50515
Cathepsin L2 GeneProduct ncbigene:1515
TGFB2 GeneProduct ncbigene:7042
AKT GeneProduct ncbigene:207
Growth hormone GeneProduct ncbigene:2688
GLI3 GeneProduct ncbigene:2737
Thyroid hormone Metabolite chebi:60311
HMGCS1 GeneProduct ncbigene:3157
VEGFA GeneProduct ncbigene:7422
MMP9 GeneProduct ncbigene:4318
SERPINH1 GeneProduct ncbigene:871
BMP7 GeneProduct ncbigene:655
CDKN1C GeneProduct ncbigene:1028
Sox9 GeneProduct ncbigene:6662
THRA GeneProduct ncbigene:7067
RUNX2 GeneProduct ncbigene:860
STAT1 GeneProduct ncbigene:6772
ADAMTS1 GeneProduct ncbigene:9510
THRA GeneProduct ncbigene:7067
GH receptor GeneProduct ncbigene:2690
PLAU GeneProduct ncbigene:5328
MGP GeneProduct ncbigene:4256
STAT5 GeneProduct ncbigene:6777
COL10A1 GeneProduct ncbigene:1300
ADAMTS4 GeneProduct ncbigene:9507
TGFB1 GeneProduct ncbigene:7040
IGF1R GeneProduct ncbigene:3480
TG737 GeneProduct ncbigene:8100
cAMP Metabolite hmdb:HMDB0000058
DDR2 GeneProduct ncbigene:4921
Bapx1 GeneProduct ncbigene:579
Carminerin GeneProduct ncbigene:1473
FrzB-1 GeneProduct ncbigene:2487
PLAT GeneProduct ncbigene:5327
HDAC4 GeneProduct ncbigene:9759
PTHrP GeneProduct ncbigene:5744
PTHR1 GeneProduct ncbigene:5745
SOX5 GeneProduct ncbigene:6660
TIMP3 GeneProduct ncbigene:7078


  1. Mackie EJ, Ahmed YA, Tatarczuch L, Chen K-S, Mirams M. Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Int J Biochem Cell Biol. 2008;40(1):46–62. PubMed Europe PMC Scholia
  2. Belluoccio D, Bernardo BC, Rowley L, Bateman JF. A microarray approach for comparative expression profiling of the discrete maturation zones of mouse growth plate cartilage. Biochim Biophys Acta. 2008 May;1779(5):330–40. PubMed Europe PMC Scholia
  3. Randau TM, Schildberg FA, Alini M, Wimmer MD, Haddouti E-M, Gravius S, et al. The effect of dexamethasone and triiodothyronine on terminal differentiation of primary bovine chondrocytes and chondrogenically differentiated mesenchymal stem cells. PLoS One. 2013 Aug 16;8(8):e72973. PubMed Europe PMC Scholia