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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: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 the CDH3 gene on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: HJMD;   HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY;   hypotrichosis with cone-rod dystrophy;   juvenile macular degeneration and hypotrichosis;   juvenile macular dystrophy and congenital hypotrichosis
 primary_id: MESH:C537698
 alt_id: OMIM:601553
 xref: GARD:3066


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congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    physical disorder 4898
      congenital hypotrichosis with juvenile macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            eye disease 3446
              retinal disease 1197
                retinal degeneration 832
                  macular degeneration 155
                    congenital hypotrichosis with juvenile macular dystrophy 1
paths to the root