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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:acrodermatitis
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Accession:DOID:2722 term browser browse the term
Definition:Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome.
Synonyms:exact_synonym: Acrodermatitis Papulosa Infantum;   Acrodermatitis Papulosa Infantums;   Acropapulo Vesicular Syndrome;   Acropapulo-Vesicular Syndromes;   Childhood Papular Acrodermatitides;   Childhood Papular Acrodermatitis;   Erythemato Vesiculo Papulous Eruptive Syndrome;   Erythemato-Vesiculo-Papulous Eruptive Syndromes;   Gianotti Crosti Syndrome;   Infantile Papular Acrodermatitides;   Infantile Papular Acrodermatitis;   Papular Acrodermatitis of Childhood;   Papulovesicular Acrolocated Syndrome;   acrodermatitides;   papulovesicular acrolocated syndromes
 primary_id: MESH:D000169
 alt_id: OMIA:002146;   RDO:0004121
 xref: GARD:5722;   NCI:C84532
For additional species annotation, visit the Alliance of Genome Resources.



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acrodermatitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:decreased expression:skin RGD PMID:17606602 RGD:7483609 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
JBrowse link
G Mkln1 muskelin 1 ISO Acrodermatitis, lethal OMIA PMID:2402865 PMID:3710872 PMID:8981276 PMID:9256960 PMID:10563006 More... NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16714095 PMID:16819703 PMID:16889938 PMID:17190629 PMID:17202136 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Skin Abnormalities 1055
          acrodermatitis 5
            acrodermatitis chronica atrophicans 0
            acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            dermatitis 462
              acrodermatitis 5
                acrodermatitis chronica atrophicans 0
                acrodermatitis enteropathica 1
paths to the root