Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
Synonyms

MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
ID

http://purl.bioontology.org/ontology/OMIM/159950
altLabel

MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY

SMAPME
cui

C1834569
Gene Locus

8p22-p21.3
Gene Symbol

AC

ASAH1

SMAPME
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036951

http://purl.bioontology.org/ontology/OMIM/MTHU036957

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU036955

http://purl.bioontology.org/ontology/OMIM/MTHU036949

http://purl.bioontology.org/ontology/OMIM/MTHU034355

http://purl.bioontology.org/ontology/OMIM/MTHU036953

http://purl.bioontology.org/ontology/OMIM/MTHU009234

http://purl.bioontology.org/ontology/OMIM/MTHU000650

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU031268

http://purl.bioontology.org/ontology/OMIM/MTHU010840

http://purl.bioontology.org/ontology/OMIM/MTHU002980

http://purl.bioontology.org/ontology/OMIM/MTHU001140

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000331

http://purl.bioontology.org/ontology/OMIM/MTHU036954

http://purl.bioontology.org/ontology/OMIM/MTHU036948

http://purl.bioontology.org/ontology/OMIM/MTHU020187

http://purl.bioontology.org/ontology/OMIM/MTHU036956

http://purl.bioontology.org/ontology/OMIM/MTHU036952

http://purl.bioontology.org/ontology/OMIM/MTHU036950

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU001707

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU000329
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

159950
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111527 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537563 Medical Subject Headings CUI