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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:nonsyndromic congenital nail disorder 3
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Accession:DOID:0080081 term browser browse the term
Definition:A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. (DO)
Synonyms:exact_synonym: LEUKONYCHIA TOTALIS AND/OR PARTIALIS;   NDNC3
 narrow_synonym: LEUKONYCHIA PUNCTATA;   PORCELAIN NAILS LEUKONYCHIA STRIATUS
 primary_id: OMIM:151600

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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 chrNW_004955421:4,856,366...4,880,309
Ensembl chrNW_004955421:4,856,366...4,880,309 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      nonsyndromic congenital nail disorder 7
        nonsyndromic congenital nail disorder 3 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6160
            skin disease 3500
              pigmentation disease 238
                Hypopigmentation 139
                  Leukonychia Totalis 3
                    nonsyndromic congenital nail disorder 3 1
paths to the root