osteochondrodysplasia

Summary
Synonym
  • Cartilage Development disorder
  • Congenital anomaly of cartilage
  • Osteochondrodysplasia syndrome
  • chondrodystrophy
  • skeletal dysplasia
Definition
A bone development disease that results_in defective development of cartilage or bone.
Super Class
bone development disease cartilage disease
Disease Ontology
DOID:2256
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
658 BMPR1B bone morphogenetic protein receptor type 1B
1280 COL2A1 collagen type II alpha 1 chain
1297 COL9A1 collagen type IX alpha 1 chain
1298 COL9A2 collagen type IX alpha 2 chain
1299 COL9A3 collagen type IX alpha 3 chain
1300 COL10A1 collagen type X alpha 1 chain
1302 COL11A2 collagen type XI alpha 2 chain
1311 COMP cartilage oligomeric matrix protein
1836 SLC26A2 solute carrier family 26 member 2
2316 FLNA filamin A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11909 Atf2 activating transcription factor 2
12608 Cebpb CCAAT/enhancer binding protein beta
68031 Rnf146 ring finger protein 146
Displaying 1 entry
Gene ID Gene Symbol Description Source
29591 Tgfbr1 transforming growth factor, beta receptor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025