Stickler syndrome, type V

Preferred Label : Stickler syndrome, type V;

Symbol : STL5;

CISMeF acronym : STL5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-2 subunit of collagen type IX gene (COL9A2, 120260.0006);

Prefixed ID : #614284;

Details

Origin ID

614284;

UMLS CUI

C3280342;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive Stickler syndrome [ORDO Disease]
Genes related to phenotype
- Collagen, type ix, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- High myopia [HPO term]
- Retinal detachment [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Autosomal recessive Stickler syndrome [ORDO Disease]
- Stickler syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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