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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:Leukonychia Totalis
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Accession:DOID:9008749 term browser browse the term
Synonyms:exact_synonym: Hereditary white nails;   Leukonychia Punctata;   Porcelain nails
 primary_id: MESH:C535889;   RDO:0001249



show annotations for term's descendants           Sort by:
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCD1 phospholipase C delta 1 ISO ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 OMIM
ClinVar
PMID:21665001 PMID:25741868 NCBI chr13:22,851,581...22,872,950
Ensembl chr13:22,851,584...22,872,992
JBrowse link
PLACK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
ClinVar
PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      integumentary system disease 3695
        nail disease 113
          Leukonychia Totalis 3
            PLACK syndrome 2
            nonsyndromic congenital nail disorder 3 1
Path 2
Term Annotations click to browse term
  disease 17416
    Pathological Conditions, Signs and Symptoms 11770
      Signs and Symptoms 9715
        Neurologic Manifestations 9396
          sensory system disease 6498
            skin disease 3695
              pigmentation disease 247
                Hypopigmentation 143
                  Leukonychia Totalis 3
                    PLACK syndrome 2
                    nonsyndromic congenital nail disorder 3 1
paths to the root