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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:ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
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Accession:DOID:0111649 term browser browse the term
Definition:An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: EEM Syndrome;   EEMS;   ectodermal dysplasia, ectrodactyly, and macular dystrophy;   ectodermal dysplasia-ectrodactyly-macular dystrophy;   ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
 broad_synonym: CDH3-RELATED CONDITION
 primary_id: MESH:C536190
 alt_id: OMIM:225280
 xref: GARD:2078;   ORDO:1897


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ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 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: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Diseases of the Aged 1234
      macular degeneration 151
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              eye degenerative disease 823
                retinal degeneration 821
                  macular degeneration 151
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
paths to the root