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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: MIM: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 chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    physical disorder 5164
      Leber congenital amaurosis 132
        Amaurosis Hypertrichosis 1
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13534
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7248
            eye disease 3728
              retinal disease 1398
                retinal degeneration 853
                  fundus dystrophy 703
                    retinitis pigmentosa 602
                      Amaurosis Hypertrichosis 1
paths to the root