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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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
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 Annotator: match by OMIM:201100
ClinVar
CTD
OMIM
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:17483098 PMID:19370757 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532, PMID:12068297 RGD:1599005 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        Skin Abnormalities 633
          acrodermatitis 4
            acrodermatitis chronica atrophicans 0
            acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            dermatitis 420
              acrodermatitis 4
                acrodermatitis chronica atrophicans 0
                acrodermatitis enteropathica 1
paths to the root