Preferred Name |
Ehlers-Danlos Syndrome, Type VI |
|
Synonyms |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Type VI |
|
Definitions |
Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125700 |
|
code |
C125700 |
|
Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
DEFINITION |
Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. |
|
FULL_SYN |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Type VI |
|
label |
Ehlers-Danlos Syndrome, Type VI |
|
Preferred_Name |
Ehlers-Danlos Syndrome, Type VI |
|
prefixIRI |
Thesaurus:C125700 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0268342 |
|
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://purl.obolibrary.org/obo/NCIT_C125700 | BERO | LOOM |