loading...| Preferred Name | SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE | |
| Synonyms |
NTE-RELATED MOTOR NEURON DISORDER NTEMND SPG39 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/612020 |
|
| altLabel |
NTE-RELATED MOTOR NEURON DISORDER NTEMND SPG39 |
|
| cui |
C2677586 |
|
| Gene Locus |
19p13.3 |
|
| Gene Symbol |
NTEMND PNPLA6 OMCS SPG39 BNHS LNMS NTE |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU004325 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU007096 http://purl.bioontology.org/ontology/OMIM/MTHU004915 http://purl.bioontology.org/ontology/OMIM/MTHU036767 http://purl.bioontology.org/ontology/OMIM/MTHU036349 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
612020 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE |
|
| Scope Statement |
Caused by mutation in the patatin-like phospholipase domain-containing protein 6 (PNPLA6, 603197.0001) [MOLECULAR BASIS] Onset usually in the first decade [MISCELLANEOUS] Later onset has been reported [MISCELLANEOUS] |
|
| tui |
T047 |