campomelic dysplasia

Summary
Synonym
  • Acampomelic Campomelic Dysplasia
Definition
An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Super Class
autosomal dominant disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0050463
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
249 ALPL alkaline phosphatase, biomineralization associated
1120 CHKB choline kinase beta
1605 DAG1 dystroglycan 1
1636 ACE angiotensin I converting enzyme
2218 FKTN fukutin
3482 IGF2R insulin like growth factor 2 receptor
3960 LGALS4 galectin 4
4351 MPI mannose phosphate isomerase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
10585 POMT1 protein O-mannosyltransferase 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: August 19, 2024