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 1 - 10 of 138 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
226 ALDOA aldolase, fructose-bisphosphate A
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
249 ALPL alkaline phosphatase, biomineralization associated
250 ALPP alkaline phosphatase, placental
411 ARSB arylsulfatase B
412 STS steroid sulfatase

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Last updated: August 19, 2024