Pelizaeus-Merzbacher Disease
Disease ID: disease_node_10558
Connections displayed (default: 10).
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| Dbxref | GARD:4265, MESH:D020371, MIM:312080, NCI:C75487, ORDO:702, SNOMEDCT_US_2023_03_01:64855000, UMLS_CUI:C0205711 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060786 |
| Data Source | DOID, MESH |
| Synonyms | HLD1, Leukodystrophy, sudanophilic, PMD, Pelizaeus Merzbacher brain sclerosis, Pelizaeus-Merzbacher brain sclerosis, diffuse familial brain sclerosis, hypomyelinating leukodystrophy 1, sudanophilic leukodystrophy, Paelizeus-Merzbacher type |
| Mesh Id | D020371 |
| Mesh Label | Pelizaeus-Merzbacher Disease |
| Mesh Subclassof | D040181, D020279 |
| Doid Label | Pelizaeus-Merzbacher disease |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_10558 |
| Doid Id | DOID_3210 |
| Label | Pelizaeus-Merzbacher Disease |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease)