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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 the GPC4 gene on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: KPTS;   nasodigitoacoustic syndrome
 primary_id: MESH:C538337
 alt_id: OMIM:301026
 xref: GARD:267;   NCI:C186306;   ORDO:2662


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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 IAGP ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Keipert syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      Keipert syndrome 1
paths to the root