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RGD uses the Human Disease Ontology (DO, 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;   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 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Keipert syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1041
                Hearing Disorders 776
                  Hearing Loss 773
                    Deafness 346
                      Keipert syndrome 1
paths to the root