Ehlers-Danlos Syndrome, Type VI

Preferred Label : Ehlers-Danlos Syndrome, Type VI;

NCIt synonyms : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1;

NCIt definition : Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene.;

Details

Origin ID

C125700;

UMLS CUI

C0268342;

Automatic exact mappings (from CISMeF team)
- Kyphoscoliotic Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos syndrome type 6 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 6 [MeSH concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, kyphoscoliotic type, 1 [OMIM Phenotype]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]
DO Cross reference
- brittle cornea syndrome 1 [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos syndrome type 6 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 6 [MeSH concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, kyphoscoliotic type, 1 [OMIM Phenotype]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- brittle cornea syndrome 1 [DO Concept]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]
Validated automatic mappings to BTNT
- brittle cornea syndrome 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PLOD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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