Preferred Name |
achondroplasia |
|
Synonyms |
Chondrodystrophia |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
|
ID |
http://purl.obolibrary.org/obo/DOID_4480 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0001080 MESH:D000130 ICD10CM:Q77.4 OMIM:100800 SNOMEDCT_US_2020_03_01:268273004 GARD:8173 NCI:C34345 |
|
has exact match |
MESH:D000130 |
|
has exact synonym |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:4480 |
|
imported from | ||
in_subset | ||
label |
achondroplasia |
|
notation |
DOID:4480 |
|
prefLabel |
achondroplasia |
|
textual definition |
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
|
subClassOf |
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