National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34568

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