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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Preferred Name | achondroplasia | |
| Synonyms |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique |
|
| 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 |
SNOMEDCT_US_2021_09_01:268273004 UMLS_CUI:C0001080 NCI:C34345 ICD10CM:Q77.4 GARD:8173 OMIM:100800 MESH:D000130
|
|
| definition |
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].
|
|
| has exact match |
MESH:D000130
|
|
| has_exact_synonym |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique
|
|
| has_obo_namespace |
disease_ontology
|
|
| IAO_0000115 |
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
|
|
| id |
DOID:4480
|
|
| in_subset | ||
| label |
achondroplasia
|
|
| notation |
DOID:4480
|
|
| note |
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].
|
|
| prefLabel |
achondroplasia
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|
| subClassOf |
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