Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:solitary median maxillary central incisor
go back to main search page
Accession:DOID:0111380 term browser browse the term
Definition:A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: Fused incisors;   SMMCI;   SMMCI syndrome;   Single central maxillary incisor;   single median maxillary central incisor;   single upper central incisor;   solitary median maxillary central incisor syndrome
 primary_id: MESH:C537342
 alt_id: OMIM:147250
 xref: GARD:4877
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
solitary median maxillary central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
ClinVar Annotator: match by OMIM:147250
ClinVar Annotator: match by term: Single maxillary central incisor
OMIM
ClinVar
PMID:9302262, PMID:11471164, PMID:12567406, PMID:15103725, PMID:25741868, PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Single upper central incisor ClinVar PMID:18791198, PMID:19346217, PMID:20157829, PMID:26080100, PMID:26467025, PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Stomatognathic Diseases 981
      tooth disease 281
        anodontia 40
          solitary median maxillary central incisor 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                anodontia 40
                  solitary median maxillary central incisor 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.