Stickler Syndrome Type 2

Preferred Label : Stickler Syndrome Type 2;

NCIt synonyms : Stickler Syndrome Type II;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the COL11A1 gene. It is characterized by an abnormal ocular vitreous architecture (beaded vitreous phenotype). Other signs and symptoms include retinal detachment, joint hypermobility, hearing loss, and midline clefting.;

Details

Origin ID

C74985;

UMLS CUI

C1858084;

Currated CISMeF NLP mapping
- Stickler syndrome 2 [DO Concept]
- Stickler syndrome type 2 [ICD-11 More detail]
- Stickler syndrome type 2 [ORDO Disease]
- Stickler syndrome type 2 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 2 [MeSH concept]
- Stickler syndrome, type II [OMIM Phenotype]
- stickler syndrome, type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler syndrome type 2 [ORDO Disease]
- Stickler syndrome type 2 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 2 [MeSH concept]
- Stickler syndrome, type II [OMIM Phenotype]
- stickler syndrome, type 2 [MeSH Supplementary 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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