Preferred Name |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
Synonyms |
Mitochondrial Aspartyl-tRNA Synthetase Deficiency |
ID |
http://purl.bioontology.org/ontology/MESH/C567009 |
altLabel |
Mitochondrial Aspartyl-tRNA Synthetase Deficiency |
cui |
C1970180 |
Has mapping qualifier | |
HM |
D056784 D001226/Q000172 D028361 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D028361 |
MDA |
20121105 |
MeSH Frequency |
11 |
MMR |
20131024 |
notation |
C567009 |
prefLabel |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
SC |
3 |
TERMUI |
T832734 T832735 |
TH |
OMIM (2013) GHR (2014) |
tui |
T047 |