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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: Nail disorder, nonsyndromic congenital, 8
ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED
OMIM
ClinVar
PMID:7577595 PMID:8755915 PMID:9856844 PMID:10408773 PMID:10469344 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    physical disorder 3087
      nonsyndromic congenital nail disorder 8
        nonsyndromic congenital nail disorder 8 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          skin disease 2954
            nail disease 93
              Malformed Nails 22
                nonsyndromic congenital nail disorder 8
                  nonsyndromic congenital nail disorder 8 1
paths to the root