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:adermatoglyphia
go back to main search page
Accession:DOID:0111357 term browser browse the term
Definition:A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. (DO)
Synonyms:exact_synonym: ADERM;   ADG;   Congenital absence of fingerprints;   Immigration delay disease;   absence of fingerprints;   isolated congenital adermatoglyphia
 primary_id: MESH:C565010
 alt_id: MIM:136000
 xref: GARD:12550;   ORDO:289465


show annotations for term's descendants           Sort by:
adermatoglyphia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SNF2 related chromatin remodeling ATPase with DExD box 1 ISO ClinVar Annotator: match by term: Adermatoglyphia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 More... NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Genetic Skin Diseases 1889
          adermatoglyphia 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal dominant disease 6762
                adermatoglyphia 1
paths to the root