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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15392 | Delta(24)-sterol reductase | |
| Q15800 | Methylsterol monooxygenase 1 | |
| Q16394 | Exostosin-1 | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q5VV63 | Attractin-like protein 1 | |
| Q75T13 | GPI inositol-deacylase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q86X52 | Chondroitin sulfate synthase 1 | |
| Q86Y38 | Xylosyltransferase 1 | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
