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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


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 chr20:25,691,474...25,717,558
Ensembl chr20:25,662,055...25,716,319 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1		 OMIM
CTD
ClinVar		 PMID:21665003 PMID:22211385 PMID:23374899 PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3		 OMIM
CTD
ClinVar		 PMID:21665001 PMID:25741868 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		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 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Anonychia ClinVar PMID:25741868 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
G Rspo4 R-spondin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anonychia		 OMIM
CTD
ClinVar		 PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203 NCBI chr 3:140,357,256...140,391,780
Ensembl chr 3:140,357,424...140,388,254 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19639023 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		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: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7577595 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 8:109,604,877...109,637,249
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 21118
    physical disorder 4898
      nonsyndromic congenital nail disorder 7
        nonsyndromic congenital nail disorder 1 1
        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 0
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          sensory system disease 6883
            skin disease 3905
              nail disease 113
                Malformed Nails 31
                  nonsyndromic congenital nail disorder 7
                    nonsyndromic congenital nail disorder 1 1
                    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 0
paths to the root