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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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Kindler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 PMID:16675959 PMID:17460733 PMID:18528435 PMID:19292718 PMID:19762715 PMID:21336475 PMID:21936020 PMID:22220914 PMID:24635075 PMID:24635080 PMID:25156791 PMID:25437880 PMID:25599393 PMID:25741868 PMID:28443301 PMID:28492532 PMID:29130490 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Stomatognathic Diseases 980
      tooth disease 289
        periodontal disease 113
          Kindler syndrome 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
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    Kindler syndrome 1
paths to the root