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| Term | Kohlschutter-Tonz syndrome | ID (Ontology) | DOID:0111668 (Human Disease) |
| 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. | ||
| Also Known As | "amelocerebrohypohidrotic syndrome" ; "epilepsy and yellow teeth" ; "epilepsy dementia amelogenesis imperfecta" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| Kohlschutter-Tonz syndrome 18 rec. |
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| Is a |
autosomal recessive disease syndrome |
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GARD:3128 MESH:C537213 MIM:226750 ORDO:1946 SNOMEDCT_US_2023_03_01:109478007 UMLS_CUI:C0406740 |
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