Stickler syndrome
cv_term_accession
KW-0757
canonical
uniprot_keyword
KW-0757
canonical
name
Stickler syndrome
uniprot
synonym
STL
uniprot
definition
Protein which, if defective, causes Stickler syndrome (STL), also known as hereditary progressive arthro-ophthalmopathy. It is a genetically and phenotypically heterogeneous disorder with ocular, oro-facial, auditory and skeletal manifestations. Clinical features include high myopia, vitreo-retinal degeneration, retinal detachment, cleft palate, midfacial hypoplasia, osteoarthritis, and sensorineural hearing loss. Inheritance is autosomal dominant.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
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uniprot
keywords