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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:216340
ClinVar Annotator: match by term: Yunis Varon syndrome
ClinVar Annotator: match by term: Yunis-Varon syndrome
OMIM
ClinVar
PMID:2319578 PMID:7496176 PMID:17572665 PMID:18180444 PMID:18261132 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 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 17207
    syndrome 8126
      Yunis-Varon syndrome 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  Micrognathism 49
                    Yunis-Varon syndrome 2
paths to the root