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spondyloepiphyseal dysplasia congenita

Summary

Synonym

Late Spondyloepiphyseal Dysplasia

Definition

A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.

Super Class

autosomal dominant disease spondyloepiphyseal dysplasia

External Links

Disease Ontology

DOID:14789

Mondo Disease Ontology

MONDO:0008471

MeSH

C535788

OMIM

183900

GARD

4987

Related Genes

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
1280	COL2A1	collagen type II alpha 1 chain	Alliance of Genome Resources
1404	HAPLN1	hyaluronan and proteoglycan link protein 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
12824	Col2a1	collagen, type II, alpha 1	Alliance of Genome Resources
12950	Hapln1	hyaluronan and proteoglycan link protein 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
25412	Col2a1	collagen type II alpha 1 chain	Alliance of Genome Resources
29331	Hapln1	hyaluronan and proteoglycan link protein 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
394828	col2a1	collagen, type II, alpha 1	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
397738	col2a1.L	collagen, type II, alpha 1 L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)