Marshall Syndrome

Preferred Label : Marshall Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild.;

Details

Origin ID

C128115;

UMLS CUI

C0265235;

Automatic exact mappings (from CISMeF team)
- Marshall syndrome [ICD-11 More detail]
- Marshall syndrome [DO Concept]
Currated CISMeF NLP mapping
- Marshall syndrome [PASCAL descriptor]
- Marshall syndrome [OMIM Phenotype]
- Marshall syndrome [MeSH concept]
- Marshall syndrome [ORDO Disease]
- Marshall syndrome [Disease (Nov.)]
- Marshall syndrome (disorder) [SNOMED CT concept]
- marshall syndrome [MeSH Supplementary Concept]
- marshall syndrome [SNOMED Notion]
DO Cross reference
- Marshall syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marshall syndrome [ORDO Disease]
- Marshall syndrome [PASCAL descriptor]
- Marshall syndrome [OMIM Phenotype]
- Marshall syndrome [MeSH concept]
- Marshall syndrome [DO Concept]
- Marshall syndrome (disorder) [SNOMED CT concept]
- marshall syndrome [SNOMED Notion]
- marshall syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL11A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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