| Preferred Name |
Osteochondrodysplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978 |
| ALT_DEFINITION |
A complex group of bone and cartilage disorders that result in abnormalities in the size and shape of the trunk, extremities, and/or skull. |
| code |
C84978 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118468 |
| Contributing_Source |
NICHD MedDRA |
| DEFINITION |
A term referring to disorders characterized by abnormalities in the development of bones and cartilage. |
| FULL_SYN |
Skeletal Dysplasia Congenital Skeletal Dysplasia |
| Has_NICHD_Parent | |
| label |
Osteochondrodysplasia |
| NICHD_Hierarchy_Term |
Osteochondrodysplasia |
| Preferred_Name |
Osteochondrodysplasia |
| prefixIRI |
C84978 |
| prefLabel |
Osteochondrodysplasia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0029422 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/MTHU041797 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.obolibrary.org/obo/DOID_2256 | Human Disease Ontology 123 | LOOM |