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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:orofaciodigital syndrome XIX
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Accession:DOID:0060960 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: OFD19;   OFDS XIX;   ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX
 alt_id: DOID:9000935
 xref: MIM:620107


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orofaciodigital syndrome XIX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX ClinVar PMID:36084634 NCBI chr 2:182,700,883...182,705,119
Ensembl chr 2:182,700,348...182,704,835 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      orofaciodigital syndrome 31
        orofaciodigital syndrome XIX 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      musculoskeletal system disease 8472
        connective tissue disease 5945
          bone disease 4399
            bone development disease 2369
              dysostosis 630
                orofaciodigital syndrome 31
                  orofaciodigital syndrome XIX 1
paths to the root