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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 1
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Accession:DOID:0080079 term browser browse the term
Definition:A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. (DO)
Synonyms:exact_synonym: ISOLATED NAIL ANOMALY;   NDNC10;   claw-shaped nails;   isolated onychodystrophy totalis;   nonsyndromic congenital nail disorder 10;   twenty-nail dystrophy
 primary_id: MESH:C562907
 alt_id: DOID:0080088;   OMIM:161050
 xref: ORDO:280654;   ORDO:79153
For additional species annotation, visit the Alliance of Genome Resources.


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nonsyndromic congenital nail disorder 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Twenty nail dystrophy
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital, 1
ClinVar
OMIM
PMID:21665003, PMID:22211385, PMID:23374899 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Isolated nail anomaly ClinVar PMID:28504827 NCBI chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069
JBrowse link

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 1 2
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 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.