Preferred Name |
achondroplasia |
Synonyms |
Chondrodystrophia |
Definitions |
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in 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_2020_03_01:268273004 |
has exact match |
MESH:D000130 |
has exact synonym |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique |
id |
DOID:4480 |
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. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |