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loading...| Preferred Name |
COL1A1 Associated Connective Tissue Disorder |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C75471 |
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| code |
C75471 |
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| 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. |
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| label |
COL1A1 Associated Connective Tissue Disorder |
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| Legacy Concept Name |
COL1A1_Associated_Connective_Tissue_Disorder |
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| Preferred_Name |
COL1A1 Associated Connective Tissue Disorder |
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| prefixIRI |
NCIT:C75471 |
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| prefLabel |
COL1A1 Associated Connective Tissue Disorder |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268331 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75471 | NCIT | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#COL1A1_Associated_Connective_Tissue_Disorder | CSEO | LOOM |