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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: MIM:PS161050



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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 chr20:25,659,847...25,717,080
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 ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 OMIM
ClinVar
PMID:21665003 PMID:22211385 PMID:23374899 PMID:25741868 PMID:26036949 NCBI chr 7:71,939,916...71,971,685
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 ClinVar Annotator: match by term: LEUKONYCHIA TOTALIS AND/OR PARTIALIS | ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 | ClinVar Annotator: match by term: PLCD1-related condition OMIM
ClinVar
PMID:21665001 PMID:25741868 PMID:28492532 NCBI chr 8:127,672,955...127,695,939
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: Hyponychia congenita ClinVar PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 More... NCBI chr 8:118,483,364...118,515,736
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 chr10:85,679,068...85,683,792
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Rspo4 R-spondin 4 ISO ClinVar Annotator: match by term: Anonychia | ClinVar Annotator: match by term: RSPO4-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203 More... 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 chr10:98,305,744...98,311,250
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 8:118,483,364...118,515,736
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 19141
    physical disorder 5192
      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 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              nail disease 118
                Malformed Nails 34
                  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