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 101 - 110 of 138 in total
Gene ID Gene Symbol Description Source
9563 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
9791 PTDSS1 phosphatidylserine synthase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
9993 DGCR2 DiGeorge syndrome critical region gene 2
10466 COG5 component of oligomeric golgi complex 5
10584 COLEC10 collectin subfamily member 10
10682 EBP EBP cholestenol delta-isomerase
10908 PNPLA6 patatin like phospholipase domain containing 6
11285 B4GALT7 beta-1,4-galactosyltransferase 7
22856 CHSY1 chondroitin sulfate synthase 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