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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 SMARCAD1 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
For additional species annotation, visit the Alliance of Genome Resources.



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 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Adermatoglyphia OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      skin disease 3762
        Genetic Skin Diseases 1552
          adermatoglyphia 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                adermatoglyphia 1
paths to the root