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| Term | Pelizaeus-Merzbacher disease | ID (Ontology) | DOID:3210 (Human 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. | ||
| Also Known As | "diffuse familial brain sclerosis" ; "HLD1" ; "hypomyelinating leukodystrophy 1" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease______ leukodystrophy | |__hypomyelinating leukodystrophy__| Pelizaeus-Merzbacher disease 1 rec. |
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| Is a |
hypomyelinating leukodystrophy X-linked recessive disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:4265 MESH:D020371 MIM:312080 NCI:C75487 ORDO:702 SNOMEDCT_US_2023_03_01:64855000 UMLS_CUI:C0205711 |
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