| Metadata | |
|---|---|
| ID | DOID:3210 |
| Name | Pelizaeus-Merzbacher disease |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15627202, https://www.ncbi.nlm.nih.gov/pubmed/3476455, https://www.ncbi.nlm.nih.gov/pubmed/2773936, https://www.ncbi.nlm.nih.gov/books/NBK560522/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:64855000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
diffuse familial brain sclerosis [EXACT] HLD1 [EXACT] hypomyelinating leukodystrophy 1 [EXACT] Leukodystrophy, sudanophilic [EXACT] Pelizaeus Merzbacher brain sclerosis [EXACT] Pelizaeus-Merzbacher brain sclerosis [EXACT] PMD [EXACT] sudanophilic leukodystrophy, Paelizeus-Merzbacher type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |