loading...| Preferred Name | Miller-Dieker lissencephaly syndrome | |
| Synonyms |
MDS Miller-Dieker syndrome |
|
| Definitions |
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060469 |
|
| alternative label |
MDS Miller-Dieker syndrome |
|
| created by |
elvira |
|
| creation_date |
2015-11-17T16:22:00Z |
|
| database_cross_reference |
UMLS_CUI:C0265219 MESH:D054221 SNOMEDCT_US_2023_03_01:253148005 NCI:C124852 ICD10CM:Q93.88 MIM:247200 ORDO:531 |
|
| definition |
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 exact synonym |
MDS Miller-Dieker syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060469 |
|
| in_subset | ||
| label |
Miller-Dieker lissencephaly syndrome |
|
| notation |
DOID:0060469 |
|
| note |
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. |
|
| preferred label |
Miller-Dieker lissencephaly syndrome |
|
| prefLabel |
Miller-Dieker lissencephaly syndrome |
|
| subClassOf |