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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:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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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: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 16122
    physical disorder 2480
      nonsyndromic congenital nail disorder 8
        nonsyndromic congenital nail disorder 9 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          skin disease 2715
            nail disease 58
              Malformed Nails 21
                nonsyndromic congenital nail disorder 8
                  nonsyndromic congenital nail disorder 9 2
paths to the root