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loading...| Preferred Name | Metabolic_Disease_of_Collagen | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Metabolic_Disease_of_Collagen |
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| ID |
C75471 |
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| NCI_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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| NCI_PT |
COL1A1 Associated Connective Tissue Disorder |
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| NICHD_Definition |
_ |
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| prefixIRI |
Metabolic_Disease_of_Collagen |
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| prefLabel |
Metabolic_Disease_of_Collagen |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Connective_Tissue_Disorder |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SNOMEDCT/73873008 | SNOMEDCT | LOOM |