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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 cone-rod dystrophy;   hypotrichosis with juvenile macular dystrophy;   juvenile macular degeneration and hypotrichosis;   juvenile macular dystrophy and congenital hypotrichosis
 broad_synonym: CDH3-RELATED CONDITION
 xref: GARD:3066;   MESH:C537698;   MIM:601553;   MONDO:0011107


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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 19099
    physical disorder 5180
      congenital hypotrichosis with juvenile macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              retinal disease 1401
                retinal degeneration 854
                  macular degeneration 161
                    congenital hypotrichosis with juvenile macular dystrophy 1
paths to the root