Classical Lissencephalies And Subcortical Band Heterotopias
Disease ID: disease_node_11895
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q93.88, MESH:D054221, MIM:247200, NCI:C124852, ORDO:531, SNOMEDCT_US_2023_03_01:253148005, UMLS_CUI:C0265219 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | MDS, Miller-Dieker syndrome |
| Mesh Id | D054221 |
| Mesh Label | Classical Lissencephalies and Subcortical Band Heterotopias |
| Mesh Subclassof | D054081, D038901, D054082 |
| Doid Label | Miller-Dieker lissencephaly syndrome |
| Doid Description | A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11895 |
| Doid Id | DOID_0060469 |
| Label | Classical Lissencephalies And Subcortical Band Heterotopias |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)