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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
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Accession:DOID:0080683 term browser browse the term
Definition:A nail disease that is characterized by underdevelopment of nails. (DO)
Synonyms:xref: OMIM:PS161050
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
nonsyndromic congenital nail disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital ClinVar PMID:28504827 NCBI chr20:27,283,383...27,308,069
Ensembl chr20:27,254,984...27,308,069 		JBrowse link
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
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcd1 phospholipase C, delta 1 ISO OMIM NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070 		JBrowse link
nonsyndromic congenital nail disorder 4 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: Anonychia 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 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844 		JBrowse link
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Anonychia ClinVar PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723 		JBrowse link
G Rspo4 R-spondin 4 ISO ClinVar Annotator: match by term: Anonychia OMIM
ClinVar		 PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203 NCBI chr 3:147,358,690...147,391,719
Ensembl chr 3:147,358,858...147,389,698 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379 		JBrowse link
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 term: TOENAIL DYSTROPHY, ISOLATED
ClinVar Annotator: match by OMIM:607523		 OMIM
ClinVar		 PMID:7577595 PMID:8755915 PMID:9856844 PMID:10408773 PMID:10469344 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:17434045 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844 		JBrowse link
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 		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:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    physical disorder 2486
      nonsyndromic congenital nail disorder 8
        nonsyndromic congenital nail disorder 1 2
        nonsyndromic congenital nail disorder 2 0
        nonsyndromic congenital nail disorder 3 1
        nonsyndromic congenital nail disorder 4 4
        nonsyndromic congenital nail disorder 5 0
        nonsyndromic congenital nail disorder 6 0
        nonsyndromic congenital nail disorder 7 0
        nonsyndromic congenital nail disorder 8 1
        nonsyndromic congenital nail disorder 9 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          skin disease 2722
            nail disease 58
              Malformed Nails 21
                nonsyndromic congenital nail disorder 8
                  nonsyndromic congenital nail disorder 1 2
                  nonsyndromic congenital nail disorder 2 0
                  nonsyndromic congenital nail disorder 3 1
                  nonsyndromic congenital nail disorder 4 4
                  nonsyndromic congenital nail disorder 5 0
                  nonsyndromic congenital nail disorder 6 0
                  nonsyndromic congenital nail disorder 7 0
                  nonsyndromic congenital nail disorder 8 1
                  nonsyndromic congenital nail disorder 9 2
paths to the root