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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:adermatoglyphia
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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: OMIM:136000
 xref: GARD:12550;   ORDO:289465


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adermatoglyphia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP
EXP		 ClinVar Annotator: match by term: Adermatoglyphia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 More... NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      skin disease 4874
        Genetic Skin Diseases 2469
          adermatoglyphia 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                adermatoglyphia 1
paths to the root