hypochondrogenesis

Summary
Definition
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
Super Class
monogenic disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0080044
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1280 COL2A1 collagen type II alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12824 Col2a1 collagen, type II, alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25412 Col2a1 collagen type II alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
394828 col2a1 collagen, type II, alpha 1 Xenopus tropicalis (tropical clawed frog)

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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: August 19, 2024