Preferred Name |
achondroplasia |
|
Synonyms |
achondroplastic physique achondroplasia chondrodystrophia osteosclerosis congenita achondroplastic dwarfism ach |
|
Definitions |
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007037 |
|
has_exact_synonym |
achondroplastic physique achondroplasia chondrodystrophia osteosclerosis congenita |
|
has_related_synonym |
achondroplastic dwarfism ach |
|
IAO_0000233 | ||
label |
achondroplasia |
|
prefixIRI |
MONDO:0007037 |
|
prefLabel |
achondroplasia |
|
seeAlso |
https://rarediseases.info.nih.gov/diseases/8173/achondroplasia |
|
textual definition |
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. |
|
subClassOf |