loading...| Preferred Name |
achondroplasia |
|
| Synonyms |
|
|
| 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]. |
|
| definition |
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
|
| hasDbXref |
UMLS_CUI:C0001080 SNOMEDCT_US_2016_03_01:205467007 NCI:C34345 ICD10CM:Q77.4 SNOMEDCT_US_2016_03_01:86268005 SNOMEDCT_US_2016_03_01:190584003 OMIM:100800 SNOMEDCT_US_2016_03_01:248299001 SNOMEDCT_US_2016_03_01:268350005 MESH:D000130 SNOMEDCT_US_2016_03_01:268273004 |
|
| hasExactSynonym |
Achondroplastic physique Chondrodystrophia osteosclerosis congenita |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:4480 |
|
| imported from | ||
| label |
achondroplasia |
|
| prefixIRI |
DOID:4480 |
|
| prefLabel |
achondroplasia |
|
| subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.