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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: Mal de Meleda ClinVar
OMIM
PMID:9887370 PMID:11285253 PMID:12483299 PMID:12535203 PMID:12603845 More... NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      skin disease 2974
        keratosis 141
          palmoplantar keratosis 32
            mal de Meleda 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            keratosis 141
              palmoplantar keratosis 32
                mal de Meleda 1
paths to the root