Jump to:
loading...| Preferred Name |
COL1A1 Associated Connective Tissue Disorder |
|
| Synonyms |
COL1A1 Associated Connective Tissue Disorder |
|
| Definitions |
A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75471 |
|
| code |
C75471 |
|
| DEFINITION |
A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. |
|
| FULL_SYN |
COL1A1 Associated Connective Tissue Disorder |
|
| label |
COL1A1 Associated Connective Tissue Disorder |
|
| Legacy Concept Name |
COL1A1_Associated_Connective_Tissue_Disorder |
|
| Preferred_Name |
COL1A1 Associated Connective Tissue Disorder |
|
| prefixIRI |
Thesaurus:C75471 |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0268331 |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C75471 | BERO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#COL1A1_Associated_Connective_Tissue_Disorder | CSEO | LOOM |