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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 CDH3 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
 primary_id: MESH:C536190
 alt_id: OMIM:225280
 xref: GARD:2078;   ORDO:1897
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:225280
ClinVar Annotator: match by term: EEM syndrome
OMIM
ClinVar
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      ectodermal dysplasia 255
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            eye degenerative disease 480
              retinal degeneration 478
                macular degeneration 145
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
paths to the root