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retinitis pigmentosa-deafness syndrome

http://purl.obolibrary.org/obo/DOID_0110829

An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

retinitis pigmentosa-deafness syndrome

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Subsets

NCIthesaurus

comment

Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.

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disease_ontology

DOID:0110829

Term relations

Subclass of:

Usher syndrome
autosomal dominant disease
has material basis in some autosomal dominant inheritance