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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:20932945, PMID:21705420, PMID:23489662, PMID:23623387, PMID:25741868, PMID:28492532 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis Varon syndrome ClinVar NCBI chr19:40,927,007...41,029,206
Ensembl chr19:40,927,007...41,029,206
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Yunis-Varon syndrome 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Craniofacial Abnormalities 1455
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 227
                  Micrognathism 46
                    Yunis-Varon syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.