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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;   FERMT1-RELATED CONDITION;   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: MIM:173650
 xref: GARD:4391;   ORDO:306539


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:173650
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Anatomical Pathological Conditions 2750
        Blister 5
          Kindler syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            skin disease 4309
              dermatitis 526
                bullous skin disease 167
                  vesiculobullous skin disease 154
                    epidermolysis bullosa 95
                      Kindler syndrome 1
paths to the root