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About: retinitis pigmentosa-deafness syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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.

AttributesValues
type
subClassOf
label
  • retinitis pigmentosa-deafness syndrome
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.
described by
id
  • DOID:0110829
database_cross_reference
  • GARD:4684
  • MESH:D052245
  • NCI:C126329
  • OMIM:500004
  • ORDO:231183
  • SNOMEDCT_US_2021_09_01:1010610007
  • UMLS_CUI:C1568248
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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