"Flybase."^^ . _:vb50938666 . "2015-05-11T10:31:37Z"^^ . "OMIM:609528"^^ . . "disease_ontology"^^ . "UMLS_CUI:C1836033"^^ . . _:vb50938666 . . "DOID:0060337"^^ . . "CEDNIK syndrome"^^ . "ORDO:66631"^^ . . "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"@en . _:vb50938666 . "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."^^ . _:vb50938666 . "emitraka"^^ . . "MESH:C537943"^^ . _:vb50938666 . "SNOMEDCT_US_2021_09_01:722385008"^^ .