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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 9
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Accession:DOID:0080087 term browser browse the term
Definition:A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. (DO)
Synonyms:exact_synonym: ANONYCHIA-ONYCHOLYSIS, ISOLATED;   NAIL DYSPLASIA;   NDNC9;   ONYCHODYSTROPHY
 primary_id: OMIM:614149
For additional species annotation, visit the Alliance of Genome Resources.


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nonsyndromic congenital nail disorder 9 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 term: Onychodystrophy ClinVar PMID:8755915, PMID:9881948, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26076072, PMID:26148662, PMID:28492532, PMID:28830826, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Onychodystrophy ClinVar PMID:15064763, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        nail disease 57
          Onycholysis 2
            nonsyndromic congenital nail disorder 9 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            nail disease 57
              Malformed Nails 21
                nonsyndromic congenital nail disorder 8
                  nonsyndromic congenital nail disorder 9 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.