Stickler syndrome, type II

Preferred Label : Stickler syndrome, type II;

Symbol : STL2;

CISMeF acronym : STL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stickler syndrome, vitreous type 2; Stickler syndrome, beaded vitreous type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, 120280.0001);

Prefixed ID : #604841;

Details

Origin ID

604841;

UMLS CUI

C1858084;

Broader ORDO disease(s)
- Stickler syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Stickler Syndrome Type 2 [NCIt concept]
- Stickler syndrome 2 [DO Concept]
- Stickler syndrome type 2 [ORDO Disease]
- Stickler syndrome type 2 [ICD-11 More detail]
- Stickler syndrome type 2 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 2 [MeSH concept]
- stickler syndrome, type 2 [MeSH Supplementary Concept]
DO Cross reference
- Stickler syndrome 2 [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal vitreous humor morphology [HPO term]
- Anteverted nares [HPO term]
- Arachnodactyly [HPO term]
- Arthropathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Glaucoma [HPO term]
- High, narrow palate [HPO term]
- Joint hypermobility [HPO term]
- Long fingers [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mild spondyloepiphyseal dysplasia [HPO term]
- Myopia [HPO term]
- Pierre-Robin sequence [HPO term]
- Retinal detachment [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
Not associated HPO term(s)
- Short stature [HPO term]
ORDO concept(s)
- Stickler syndrome [ORDO Disease]
- Stickler syndrome type 2 [ORDO Disease]
See also inter- (CISMeF)
- COL11A1 wt Allele [NCIt concept]
- collagen type XI alpha 1 chain [ORDO Gene]
- collagen type XI alpha 1 chain [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler Syndrome Type 2 [NCIt concept]
- Stickler syndrome type 2 [ORDO Disease]
- Stickler syndrome type 2 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 2 [MeSH concept]
- stickler syndrome, type 2 [MeSH Supplementary Concept]

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