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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: SMMCI;   SMMCI syndrome;   fused incisors;   single central maxillary incisor;   single median maxillary central incisor;   single upper central incisor;   solitary median maxillary central incisor syndrome
 xref: GARD:4877;   MESH:C537342;   MIM:147250;   MONDO:0007819


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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: SINGLE CENTRAL MAXILLARY INCISOR | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 More... NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    Stomatognathic Diseases 1317
      Stomatognathic System Abnormalities 585
        Tooth Abnormalities 290
          tooth agenesis 83
            anodontia 73
              solitary median maxillary central incisor 2
Path 2
Term Annotations click to browse term
  disease 15436
    Pathological Conditions, Signs and Symptoms 12097
      Signs and Symptoms 10156
        Neurologic Manifestations 9841
          sensory system disease 6951
            mouth disease 999
              tooth disease 444
                Tooth Abnormalities 290
                  tooth agenesis 83
                    anodontia 73
                      solitary median maxillary central incisor 2
paths to the root