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 51 - 60 of 138 in total
Gene ID Gene Symbol Description Source
2998 GYS2 glycogen synthase 2
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3339 HSPG2 heparan sulfate proteoglycan 2
3373 HYAL1 hyaluronidase 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase

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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