| Metadata | |
|---|---|
| ID | DOID:0070800 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070800 Copy |
| Name | leukodystrophy and cerebellar atrophy |
| Definition | A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/39420558/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621191 exactMatch UMLS_CUI:C6012719 |
| Subsets |
DO_rare_slim |
| Synonyms |
LDCA [EXACT] |
| Parent Relationships |
is_a leukodystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has phenotype some Cerebellar atrophy |