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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


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 IAGP
EXP		 ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SMMCI SYNDROME		 ClinVar
OMIM
CTD		 PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Stomatognathic Diseases 1769
      tooth disease 772
        anodontia 154
          solitary median maxillary central incisor 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            mouth disease 1369
              tooth disease 772
                Tooth Abnormalities 604
                  anodontia 154
                    solitary median maxillary central incisor 2
paths to the root