Preferred Name |
Metachromatic Leukodystrophy due to Saposin B Deficiency |
Synonyms |
Saposin B Deficiency |
ID |
http://purl.bioontology.org/ontology/MESH/C562609 |
altLabel |
Saposin B Deficiency Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency |
cui |
C0268262 |
Has mapping qualifier | |
HM |
D007966 D049231/Q000172 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
1 |
MMR |
20131106 |
notation |
C562609 |
prefLabel |
Metachromatic Leukodystrophy due to Saposin B Deficiency |
SC |
3 |
TERMUI |
T827126 T801062 T827125 |
TH |
OMIM (2013) |
tui |
T047 |