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Disease Ontology Browser
Kohlschutter-Tonz syndrome (DOID:0111668)
Alliance: disease page
Synonyms: amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome; Kohlschutter's syndrome; KTZS
Alt IDs: OMIM:226750, MESH:C537213, ORDO:1946, UMLS_CUI:C0406740
Definition: A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.


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
05/19/2020
MGI 6.15
The Jackson Laboratory