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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.


show annotations for term's descendants           Sort by:
 
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, PMID:27789416, PMID:28031453, PMID:28115293, PMID:28425089, PMID:28492532 NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        optic nerve disease 241
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Pelger-Huet anomaly 2
                  Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.