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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked deafness 5
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Accession:DOID:0111741 term browser browse the term
Definition:A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1. (DO)
Synonyms:exact_synonym: AUNX1;   DFNX5;   X-linked HSAN with deafness;   X-linked auditory neuropathy 1 with peripheral sensory neuropathy;   X-linked auditory neuropathy with peripheral sensory neuropathy type 1;   X-linked deafness 5 with peripheral neuropathy
 primary_id: MESH:C564472
 alt_id: OMIM:300614
 xref: ORDO:139583
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar
OMIM
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    sensory system disease 5615
      auditory system disease 909
        retrocochlear disease 52
          vestibulocochlear nerve disease 40
            X-linked deafness 5 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            disease of mental health 7049
              developmental disorder of mental health 4382
                specific developmental disorder 3638
                  communication disorder 290
                    agnosia 33
                      cortical deafness 12
                        Auditory Neuropathy 9
                          X-linked deafness 5 2
paths to the root