| Metadata | |
|---|---|
| ID | DOID:0070744 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070744 Copy |
| Name | early childhood-onset progressive leukodystrophy |
| Definition | A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/26792856/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1237515001 |
| SKOS |
exactMatch MIM:617762 exactMatch ORDO:502444 exactMatch UMLS_CUI:C4540358 exactMatch GARD:0017936 broadMatch ICD10CM:E75.29 |
| Subsets |
DO_rare_slim |
| Synonyms |
alkaline ceramidase 3 deficiency [EXACT] PLDECO [EXACT] |
| Parent Relationships |
is_a leukodystrophy |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |