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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:Yunis-Varon syndrome
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Accession:DOID:0060589 term browser browse the term
Definition:A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: YVS;   cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia;   cleidocranial dysplasia-micrognathia-absent thumbs syndrome
 primary_id: MESH:C536719
 alt_id: MIM:216340;   RDO:0002382
 xref: GARD:331


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  disease 19143
    syndrome 11406
      Yunis-Varon syndrome 2
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7895
          Musculoskeletal Abnormalities 3455
            Craniofacial Abnormalities 2778
              Maxillofacial Abnormalities 313
                Jaw Abnormalities 267
                  Micrognathism 55
                    Yunis-Varon syndrome 2
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