Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: MIM:225280
 xref: GARD:2078;   ORDO:1897


show annotations for term's descendants           Sort by:
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 19050
    Diseases of the Aged 1473
      macular degeneration 161
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            eye disease 3731
              eye degenerative disease 855
                retinal degeneration 853
                  macular degeneration 161
                    ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
paths to the root