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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:ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
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Accession:DOID:9008874 term browser browse the term
Definition:This disease is characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries. Affected individuals experience prenatal and neonatal fractures; fracture risk appears to diminish with age.
Synonyms:exact_synonym: ATBFS
 primary_id: MIM:620908


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ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity-bone fragility syndrome ClinVar
OMIM		 PMID:28492532 PMID:36351433 NCBI chr17:21,071,502...21,078,888
Ensembl chr17:21,071,580...21,078,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15728
    disease of anatomical entity 15372
      musculoskeletal system disease 7957
        connective tissue disease 5483
          ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15728
    disease of anatomical entity 15372
      Skin and Connective Tissue Diseases 7180
        connective tissue disease 5483
          bone disease 3972
            ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME 1
paths to the root