Ehlers-Danlos Syndrome, Musculocontractural Type 1

Preferred Label : Ehlers-Danlos Syndrome, Musculocontractural Type 1;

NCIt synonyms : EDSMC1;

NCIt definition : An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.;

Details

Origin ID

C168975;

UMLS CUI

C1866294;

Currated CISMeF NLP mapping
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH concept]
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome musculocontractural type 1 [DO Concept]
- Ehlers-danlos syndrome, musculocontractural type, 1 [OMIM Phenotype]
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]
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, musculocontractural type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome musculocontractural type (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, musculocontractural type, 1 [OMIM Phenotype]
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CHST14 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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