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General Information
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| Term |
early onset progressive encephalopathy with brain atrophy and thin corpus callosum |
ID (Ontology) |
DOID:0070423 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. |
| Also Known As |
"early-onset progressive encephalopathy with brain atrophy and thin corpus callosum" ; "PEBAT" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 5 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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early onset progressive encephalopathy with brain atrophy and thin corpus callosum | 5 | 2 | 1 | ameliorates | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | 1 | -- | -- | for disease ribbon | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | -- | 1 | -- | model of | early onset progressive encephalopathy with brain atrophy and thin corpus callosum | 4 | 1 | -- |
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Relationships