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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:10420194, PMID:13372143, PMID:14708629, PMID:15805154, 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 16108
    syndrome 6992
      ectodermal dysplasia 250
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            eye degenerative disease 465
              retinal degeneration 463
                macular degeneration 155
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.