achondroplasia

Summary
Synonym
  • Achondroplastic physique
  • Chondrodystrophia
  • osteosclerosis congenita
Definition
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:4480
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 138 in total
Gene ID Gene Symbol Description Source
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
1634 DCN decorin
1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
1717 DHCR7 7-dehydrocholesterol reductase
1718 DHCR24 24-dehydrocholesterol reductase
1836 SLC26A2 solute carrier family 26 member 2
1962 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
2131 EXT1 exostosin glycosyltransferase 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