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Disease Ontology Browser
CEDNIK syndrome (DOID:0060337)
Alliance: disease page
Synonyms: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Alt IDs: OMIM:609528, MESH:C537943, ORDO:66631, UMLS_CUI:C1836033
Definition: An autosomal recessive disease 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.

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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory