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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420194 PMID:13372143 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 18969
    Diseases of the Aged 1472
      macular degeneration 159
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              eye degenerative disease 853
                retinal degeneration 851
                  macular degeneration 159
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
paths to the root