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loading...| Preferred Name |
Ehlers-Danlos Syndrome, Type VI |
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| Synonyms |
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| Definitions |
Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C125700 |
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| code |
C125700 |
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| Contributing_Source |
Cellosaurus |
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| definition |
Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. |
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| in_subset | ||
| label |
Ehlers-Danlos Syndrome, Type VI |
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| Preferred_Name |
Ehlers-Danlos Syndrome, Type VI |
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| prefixIRI |
NCIT:C125700 |
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| prefLabel |
Ehlers-Danlos Syndrome, Type VI |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268342 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.owl-ontologies.com/unnamed.owl#RID17771 | DERMLEX | LOOM | |
| http://purl.bioontology.org/ontology/RCTV2/PGy2500 | RCTV2 | LOOM | |
| http://purl.bioontology.org/ontology/RCD/PGy25 | RCD | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125700 | NCIT | LOOM |