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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:Hardikar Syndrome
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Accession:DOID:9003401 term browser browse the term
Synonyms:exact_synonym: HDKR;   cholestasis-pigmentary retinopathy-cleft palate syndrome
 primary_id: MESH:C535632
 alt_id: OMIM:301068
For additional species annotation, visit the Alliance of Genome Resources.



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Hardikar Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar
OMIM
PMID:25741868 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Hardikar Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Congenital Abnormalities 5794
          Musculoskeletal Abnormalities 2259
            Craniofacial Abnormalities 1971
              Maxillofacial Abnormalities 240
                Jaw Abnormalities 228
                  orofacial cleft 130
                    cleft palate 97
                      Hardikar Syndrome 1
paths to the root