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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital hypotrichosis with juvenile macular dystrophy
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Accession:DOID:0110711 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: HJMD;   Hypotrichosis With Cone-Rod Dystrophy;   Juvenile macular dystrophy and congenital hypotrichosis;   juvenile macular degeneration and hypotrichosis
 primary_id: MESH:C537698;   RDO:0003579
 alt_id: OMIM:601553
 xref: GARD:3066
For additional species annotation, visit the Alliance of Genome Resources.


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congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Diseases of the Aged 1159
      macular degeneration 130
        congenital hypotrichosis with juvenile macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              retinal disease 707
                retinal degeneration 396
                  macular degeneration 130
                    congenital hypotrichosis with juvenile macular dystrophy 1
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