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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:BOUDIN-MORTIER SYNDROME
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Accession:DOID:9002060 term browser browse the term
Definition:This is a disease characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses.
Synonyms:exact_synonym: BOMOS;   NPR3-RELATED CONDITION;   TALL STATURE AND LONG DIGITS WITH EXTRA EPIPHYSES
 primary_id: MIM:619543


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BOUDIN-MORTIER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr3 natriuretic peptide receptor 3 ISO ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition OMIM
ClinVar		 PMID:24559625 PMID:25741868 PMID:28492532 PMID:30032985 NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      bone development disease 2385
        BOUDIN-MORTIER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        Congenital Abnormalities 7883
          Musculoskeletal Abnormalities 3456
            Congenital Limb Deformities 1071
              Arachnodactyly 70
                BOUDIN-MORTIER SYNDROME 1
paths to the root