FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term hypomyelinating leukodystrophy 14 ID (Ontology) DOID:0080296 (Human Disease)
Definition A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.
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 hypomyelinating leukodystrophy 14       1
 for disease ribbon | hypomyelinating leukodystrophy 14       1
 model of | hypomyelinating leukodystrophy 14       1
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 14  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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MIM:617899