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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 CDH3 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
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 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 OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital hypotrichosis with juvenile macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          eye disease 2927
            eye degenerative disease 529
              retinal degeneration 527
                macular degeneration 145
                  congenital hypotrichosis with juvenile macular dystrophy 1
paths to the root