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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:Keipert syndrome
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Accession:DOID:0111842 term browser browse the term
Definition:A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: KPTS;   nasodigitoacoustic syndrome
 primary_id: MESH:C538337
 alt_id: OMIM:301026
 xref: GARD:267;   ORDO:2662
For additional species annotation, visit the Alliance of Genome Resources.


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Keipert syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Nasodigitoacoustic syndrome
ClinVar Annotator: match by term: Keipert syndrome
ClinVar
OMIM
PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Keipert syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          Otorhinolaryngologic Diseases 1270
            auditory system disease 850
              Hearing Disorders 710
                Hearing Loss 706
                  Deafness 384
                    Keipert syndrome 1
paths to the root