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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:Kindler syndrome
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Accession:DOID:0060472 term browser browse the term
Definition:A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)
Synonyms:exact_synonym: Bullous acrokeratotic poikiloderma of kindler and weary;   Congenital bullous poikiloderma;   KNDLRS;   Kindler's syndrome;   Poikiloderma, congenital, with bullae, weary type;   Poikiloderma, hereditary acrokeratotic;   hereditary acrokeratotic poikiloderma of Kindler-Weary;   poikiloderma of Kindler
 primary_id: MESH:C536321
 alt_id: OMIM:173650;   RDO:0001857
 xref: GARD:4391;   ORDO:306539
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Stomatognathic Diseases 1158
      tooth disease 296
        periodontal disease 116
          Kindler syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            dermatitis 461
              bullous skin disease 150
                vesiculobullous skin disease 137
                  epidermolysis bullosa 80
                    Kindler syndrome 1
paths to the root