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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:Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
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Accession:DOID:9002596 term browser browse the term
Synonyms:exact_synonym: SOPH
 primary_id: OMIM:614800;   RDO:9001073
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar
PMID:20577004 PMID:24884844 PMID:25741868 PMID:26073778 PMID:26541327 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        optic nerve disease 221
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                Pelger-Huet anomaly 2
                  Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
paths to the root