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 |