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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:PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
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Accession:DOID:9005287 term browser browse the term
Synonyms:exact_synonym: PLACK
 primary_id: OMIM:616295


show annotations for term's descendants           Sort by:
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		 OMIM
CTD
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073 PMID:25683118 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      peeling skin syndrome 9
        PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            skin disease 3905
              pigmentation disease 281
                Hypopigmentation 157
                  Leukonychia Totalis 3
                    PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
paths to the root