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 131 - 138 of 138 in total
Gene ID Gene Symbol Description Source
80055 PGAP1 post-GPI attachment to proteins inositol deacylase 1
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
91869 RFT1 RFT1 homolog
91949 COG7 component of oligomeric golgi complex 7
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
126792 B3GALT6 beta-1,3-galactosyltransferase 6
204219 CERS3 ceramide synthase 3
285362 SUMF1 sulfatase modifying factor 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