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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: OMIM:216340;   RDO:0002382
 xref: GARD:331


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Yunis-Varon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:216340
ClinVar Annotator: match by term: Yunis-Varon syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:28492532 PMID:28635952 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21109
    syndrome 10708
      Yunis-Varon syndrome 2
Path 2
Term Annotations click to browse term
  disease 21109
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7412
          Musculoskeletal Abnormalities 3206
            Craniofacial Abnormalities 2556
              Maxillofacial Abnormalities 299
                Jaw Abnormalities 253
                  Micrognathism 51
                    Yunis-Varon syndrome 2
paths to the root