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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:tooth and nail syndrome
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Accession:DOID:6678 term browser browse the term
Definition:A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. (DO)
Synonyms:exact_synonym: Dysplasia of nails with hypodontia;   ECTD3;   ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE;   ECTODERMAL DYSPLASIA 3, WITKOP TYPE;   Nail Dysplasia With Hypodontia;   TNS;   Witkop syndrome;   Witkop's syndrome;   hypoplastic enamel-onycholysis-hypohidrosis syndrome
 primary_id: MESH:C536736;   RDO:0002402
 alt_id: OMIM:189500
 xref: NCI:C40553
For additional species annotation, visit the Alliance of Genome Resources.


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tooth and nail syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by OMIM:189500
ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
OMIM
ClinVar
PMID:9484139 PMID:11369996 PMID:12807959 PMID:21448236 PMID:23991204 PMID:25741868 PMID:28492532 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      tooth and nail syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          mouth disease 771
            tooth disease 284
              Tooth Abnormalities 150
                anodontia 41
                  tooth and nail syndrome 1
paths to the root