FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term hypomyelinating leukodystrophy 13 ID (Ontology) DOID:0060795 (Human Disease)
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
Also Known As "HLD13"
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 hypomyelinating leukodystrophy 13       1
 for disease ribbon | hypomyelinating leukodystrophy 13       1
 model of | hypomyelinating leukodystrophy 13       1
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 13  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "HLD13" EXACT OMO:0003012
Secondary IDs
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MIM:616881