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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 8
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Accession:DOID:0080086 term browser browse the term
Definition:A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. (DO)
Synonyms:exact_synonym: NDNC8;   isolated toenail dystrophy
 primary_id: MESH:C564384
 alt_id: OMIM:607523
For additional species annotation, visit the Alliance of Genome Resources.


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nonsyndromic congenital nail disorder 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by OMIM:607523
ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED
OMIM
ClinVar
PMID:7577595, PMID:8755915, PMID:9856844, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Anatomical Pathological Conditions 1528
        Malformed Nails 21
          nonsyndromic congenital nail disorder 8
            nonsyndromic congenital nail disorder 8 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          skin disease 2751
            nail disease 57
              Malformed Nails 21
                nonsyndromic congenital nail disorder 8
                  nonsyndromic congenital nail disorder 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.