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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:mal de Meleda
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Accession:DOID:0060862 term browser browse the term
Definition:A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: MDM;   Meleda disease;   keratosis palmoplantaris transgrediens of Siemens;   transgrediens palmoplantar keratoderma of Siemens
 primary_id: OMIM:248300
 xref: ICD10CM:Q82.8;   ORDO:87503

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mal de Meleda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slurp1 secreted LY6/PLAUR domain containing 1 ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease OMIM
ClinVar		 PMID:9887370 PMID:11285253 PMID:12483299 PMID:12535203 PMID:12603845 More... NCBI chrNW_004936470:9,132,641...9,134,868 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        keratosis 171
          palmoplantar keratosis 40
            mal de Meleda 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Genetic Skin Diseases 1737
                palmoplantar keratosis 40
                  mal de Meleda 1
paths to the root