Preferred Name |
Spastic Paraplegia 39, Autosomal Recessive |
Synonyms |
SPG39 |
ID |
http://purl.bioontology.org/ontology/MESH/C567433 |
altLabel |
SPG39 NTE-Related Motor Neuron Disorder NTEMND |
cui |
C2677586 |
HM |
D015419 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
1 |
notation |
C567433 |
prefLabel |
Spastic Paraplegia 39, Autosomal Recessive |
SC |
3 |
Scope Statement |
mutation in PNPLA6 |
TERMUI |
T810404 T824018 T824016 T824017 |
TH |
OMIM (2013) |
tui |
T047 |