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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

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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 chrNW_004955470:4,131,348...4,177,172
Ensembl chrNW_004955470:4,131,348...4,177,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      Leber congenital amaurosis 116
        Amaurosis Hypertrichosis 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              retinal disease 1107
                retinal degeneration 781
                  fundus dystrophy 660
                    retinitis pigmentosa 569
                      Amaurosis Hypertrichosis 1
paths to the root