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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 |
|---|---|---|---|
| 55331 | ACER3 | alkaline ceramidase 3 | |
| 55343 | SLC35C1 | solute carrier family 35 member C1 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 55790 | CSGALNACT1 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | |
| 55858 | TMEM165 | transmembrane protein 165 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
