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Disease Ontology Browser
Yunis-Varon syndrome (DOID:0060589)
Alliance: disease page
Synonyms: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Alt IDs: OMIM:216340, MESH:C536719, UMLS_CUI:C1857663
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory