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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
 xref: NCI:C133885


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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 chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Skin and Connective Tissue Diseases 7775
        connective tissue disease 5919
          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 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              Skin Abnormalities 1321
                Anetoderma 2
                  Exostoses with Anetodermia and Brachydactyly Type E 0
                  Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
paths to the root