decreased long bone epiphyseal plate size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles (Mammalian Phenotype Ontology, MP_0006396)
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26 gene mutations causing the decreased long bone epiphyseal plate size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
ATF2 activating transcription factor 2
CLEC2D C-type lectin domain family 2, member D
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CTSV cathepsin V
ESR1 estrogen receptor 1
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
GGT1 gamma-glutamyltransferase 1
GLG1 golgi glycoprotein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
IRS1 insulin receptor substrate 1
KIF3A kinesin family member 3A
MEX3C mex-3 RNA binding family member C
MIR140 microRNA 140
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PTHLH parathyroid hormone-like hormone
PTPN2 protein tyrosine phosphatase, non-receptor type 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SPRED2 sprouty-related, EVH1 domain containing 2
THRB thyroid hormone receptor, beta
TNNT3 troponin T type 3 (skeletal, fast)