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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:A dermatitis that selectively affects the hands and feet. (DO)
Synonyms:exact_synonym: Acrodermatitis Papulosa Infantum;   Acropapulo Vesicular Syndrome;   Childhood Papular Acrodermatitis;   Erythemato Vesiculo Papulous Eruptive Syndrome;   Erythemato-Vesiculo-Papulous Eruptive Syndromes;   Gianotti Crosti Syndrome;   Infantile Papular Acrodermatitides;   Infantile Papular Acrodermatitis;   acrodermatitides;   acropapulo-vesicular syndromes;   childhood papular acrodermatitides;   papular acrodermatitis of childhood;   papulovesicular acrolocated syndrome;   papulovesicular acrolocated syndromes
 primary_id: MESH:D000169
 alt_id: OMIA:002146
 xref: EFO:1000664;   GARD:5722;   NCI:C84532
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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, MKLN1-related 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 7:108,333,368...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
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Acrodermatitis enteropathica zinc deficiency type | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,368...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 19137
    sensory system disease 7376
      skin disease 4320
        dermatitis 529
          acrodermatitis 5
            acrodermatitis chronica atrophicans 0
            acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Skin Abnormalities 1321
                acrodermatitis 5
                  acrodermatitis chronica atrophicans 0
                  acrodermatitis enteropathica 1
paths to the root