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nonsyndromic congenital nail disorder 8 - Ontology Report - Rat Genome Database

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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
 xref: MESH:C564384;   MIM:607523;   MONDO:0011852

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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED		 OMIM
CTD
ClinVar		 PMID:7577595 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      nonsyndromic congenital nail disorder 7
        nonsyndromic congenital nail disorder 8 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              nail disease 118
                Malformed Nails 34
                  nonsyndromic congenital nail disorder 7
                    nonsyndromic congenital nail disorder 8 1
paths to the root