loading...| Preferred Name |
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE |
| Synonyms |
SPG39 |
| ID |
http://purl.bioontology.org/ontology/OMIM/612020 |
| altLabel |
SPG39 NTE-RELATED MOTOR NEURON DISORDER NTEMND |
| cui |
C2677586 |
| Gene Locus |
19p13.3 |
| Gene Symbol |
PNPLA6 LNMS NTE SPG39 OMCS BNHS NTEMND |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU004325 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU036767 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU004915 http://purl.bioontology.org/ontology/OMIM/MTHU007096 |
| 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] Later onset has been reported [MISCELLANEOUS] Onset usually in the first decade [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567433 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C567433 | Medical Subject Headings / 医学主题词表 | LOOM |