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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:Anetoderma
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Accession:DOID:9006392 term browser browse the term
Definition:Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.
Synonyms:exact_synonym: Anetodermas;   Primary Anetoderma;   Primary Anetodermas;   Secondary Anetoderma;   Secondary Anetodermas
 primary_id: MESH:D057088;   RDO:0007776
 xref: NCI:C133885
For additional species annotation, visit the Alliance of Genome Resources.


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Anetoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:6736354 RGD:9585766 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          Anetoderma 2
            Exostoses with Anetodermia and Brachydactyly Type E 0
            Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          skin disease 2765
            Skin Abnormalities 659
              Anetoderma 2
                Exostoses with Anetodermia and Brachydactyly Type E 0
                Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
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.