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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:solitary median maxillary central incisor
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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 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 More... NCBI chr 6:9,040,123...9,043,336
Ensembl chr 6:9,036,434...9,053,301
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Stomatognathic Diseases 1010
      tooth disease 299
        anodontia 41
          solitary median maxillary central incisor 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          mouth disease 785
            tooth disease 299
              Tooth Abnormalities 155
                anodontia 41
                  solitary median maxillary central incisor 2
paths to the root