loading...| Preferred Name |
achondroplasia |
| Synonyms |
Chondrodystrophia |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_4480 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:100800 NCI:C34345 MESH:D000130 ICD10CM:Q77.4 GARD:8173 UMLS_CUI:C0001080 SNOMEDCT_US_2022_09_01:268273004 |
| 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. |
| has exact match |
MESH:D000130 |
| has exact synonym |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique |
| has_obo_namespace |
disease_ontology |
| id |
DOID:4480 |
| in_subset | |
| label |
achondroplasia |
| notation |
DOID:4480 |
| prefLabel |
achondroplasia |
| subClassOf |