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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:Amaurosis Hypertrichosis
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Accession:DOID:9001979 term browser browse the term
Synonyms:exact_synonym: Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis;   Cone-rod congenital amaurosis associated with congenital hypertrichosis;   cone-rod type congenital amaurosis with congenital hypertrichosis
 primary_id: MESH:C536604
 alt_id: OMIM:204110
For additional species annotation, visit the Alliance of Genome Resources.


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Amaurosis Hypertrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      Leber congenital amaurosis 86
        Amaurosis Hypertrichosis 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Amaurosis Hypertrichosis 1
paths to the root