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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: ECTD3;   ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE;   ECTODERMAL DYSPLASIA 3, WITKOP TYPE;   TNS;   Witkop syndrome;   Witkop's syndrome;   dysplasia of nails with hypodontia;   hypoplastic enamel-onycholysis-hypohidrosis syndrome;   nail dysplasia with hypodontia
 primary_id: MESH:C536736
 alt_id: OMIM:189500
 xref: NCI:C40553
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
tooth and nail syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3H4orf50 chromosome 3 C4orf50 homolog ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:71,141,393...71,169,693 JBrowse link
G CRMP1 collapsin response mediator protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:71,009,382...71,077,814
Ensembl chr 3:71,010,299...71,082,216 		JBrowse link
G CYTL1 cytokine like 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:70,354,099...70,358,521
Ensembl chr 3:70,354,090...70,359,128 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:70,937,957...71,007,431
Ensembl chr 3:70,937,926...71,016,115 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:70,809,649...70,935,391
Ensembl chr 3:70,810,048...70,935,860 		JBrowse link
G JAKMIP1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:71,202,903...71,344,541
Ensembl chr 3:71,204,244...71,344,881 		JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome OMIM
ClinVar		 PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G STK32B serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 3:70,384,486...70,769,806
Ensembl chr 3:70,384,486...70,768,259 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      tooth and nail syndrome 9
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            mouth disease 974
              tooth disease 432
                Tooth Abnormalities 280
                  anodontia 76
                    tooth and nail syndrome 9
paths to the root