loading...| Preferred Name |
spinal muscular atrophy with progressive myoclonic epilepsy |
| Synonyms |
SMA-PME |
| Definitions |
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111527 |
| database_cross_reference |
OMIM:159950 GARD:3044 ORDO:2590 MESH:C537563 UMLS_CUI:C1834569 GARD:3875 SNOMEDCT_US_2022_09_01:703524005 |
| definition |
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. |
| has exact synonym |
SMA-PME hereditary myoclonus-progressive distal muscular atrophy syndrome SMAPME Jankovic-Rivera syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111527 |
| in_subset | |
| label |
spinal muscular atrophy with progressive myoclonic epilepsy |
| notation |
DOID:0111527 |
| prefLabel |
spinal muscular atrophy with progressive myoclonic epilepsy |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/159950 | Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 | LOOM |