ONTOLOGY REPORT - ANNOTATIONS


Term:Aland Island eye disease
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Accession:DOID:0050630 term browser browse the term
Definition:An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO)
Synonyms:exact_synonym: AIED;   Forsius-Eriksson syndrome;   Forsius-Eriksson type ocular albinism;   ocular albinism, type II
 primary_id: MESH:C562664
 alt_id: OMIM:300600;   RDO:0012280
 xref: GARD:10574
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Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      eye and adnexa disease 1995
        eye disease 1995
          Aland Island eye disease 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye disease 1995
              Hereditary Eye Diseases 505
                Albinism 51
                  ocular albinism 6
                    Aland Island eye disease 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.