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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:Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles.
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.


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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` ISO ClinVar Annotator: match by OMIM:136000
ClinVar Annotator: match by term: Adermatoglyphia
ClinVar Annotator: match by term: FINGERPRINTS, ABSENCE OF
OMIM
ClinVar
PMID:10631162, PMID:20619487, PMID:21820097, PMID:24909267, PMID:25741868, PMID:26932190, PMID:29409814 NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        Genetic Skin Diseases 891
          adermatoglyphia 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                adermatoglyphia 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.