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



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Leukonychia Totalis 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: Leukonychia totalis ClinVar PMID:21665001 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
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:25741868 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
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 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 2:3,973,112...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 18156
    disease of anatomical entity 17531
      integumentary system disease 3782
        nail disease 101
          Leukonychia Totalis 3
            PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
            nonsyndromic congenital nail disorder 3 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            pigmentation disease 450
              Hypopigmentation 127
                Leukonychia Totalis 3
                  PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 2
                  nonsyndromic congenital nail disorder 3 1
paths to the root