Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

LEBER OPTIC ATROPHY AND DYSTONIA
Synonyms

MARSDEN SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/500001
altLabel

MARSDEN SYNDROME

LDYT

DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES

LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA
cui

C1839040
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU028972

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU004613

http://purl.bioontology.org/ontology/OMIM/MTHU025480

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU006793

http://purl.bioontology.org/ontology/OMIM/MTHU006791

http://purl.bioontology.org/ontology/OMIM/MTHU022593

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

http://purl.bioontology.org/ontology/OMIM/MTHU028977

http://purl.bioontology.org/ontology/OMIM/MTHU028975

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU028973

http://purl.bioontology.org/ontology/OMIM/MTHU025479

http://purl.bioontology.org/ontology/OMIM/MTHU025481

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU006794

http://purl.bioontology.org/ontology/OMIM/MTHU006792

http://purl.bioontology.org/ontology/OMIM/MTHU028974

http://purl.bioontology.org/ontology/OMIM/MTHU021502

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU003180

http://purl.bioontology.org/ontology/OMIM/MTHU028976
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

224570
notation

500001
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LEBER OPTIC ATROPHY AND DYSTONIA
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536024 Medical Subject Headings CUI