Pelizaeus-Merzbacher disease

Term ID

DOID:3210

Synonyms

• diffuse familial brain sclerosis
• HLD1
• hypomyelinating leukodystrophy 1
• Leukodystrophy, sudanophilic
• Pelizaeus Merzbacher brain sclerosis
• Pelizaeus-Merzbacher brain sclerosis
• PMD
• sudanophilic leukodystrophy, Paelizeus-Merzbacher type

Definition

A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (4)

References

• GARD:4265
• MESH:D020371
• MIM:312080
• NCI:C75487
• ORDO:702
• SNOMEDCT_US_2023_03_01:64855000
• UMLS_CUI:C0205711

Ontology

Human Disease   ( DOID:3210 )