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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 4
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Accession:DOID:0080082 term browser browse the term
Definition:A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: ANONYCHIA TOTALIS;   ANONYCHIA/HYPONYCHIA CONGENITA;   Anonychia;   Hyponychia congenita;   NDNC4;   anonychia congenita
 primary_id: MESH:C536377
 alt_id: DOID:0050643;   OMIM:206800
 xref: GARD:12930
For additional species annotation, visit the Alliance of Genome Resources.



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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...109,637,252
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 ClinVar Annotator: match by term: Anonychia OMIM
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      nonsyndromic congenital nail disorder 7
        nonsyndromic congenital nail disorder 4 4
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          skin disease 3783
            nail disease 101
              Malformed Nails 22
                nonsyndromic congenital nail disorder 7
                  nonsyndromic congenital nail disorder 4 4
paths to the root