Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

FAZIO-LONDE DISEASE
Synonyms

BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
ID

http://purl.bioontology.org/ontology/OMIM/211500
altLabel

BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
cui

C0015708
Gene Locus

20p13
Gene Symbol

C20orf54

RFT2

BVVLS1

SLC52A3
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

211500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FAZIO-LONDE DISEASE
tui

T047
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http://purl.obolibrary.org/obo/DOID_0080632 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D010244 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G12.1 International Classification of Diseases, Version 10 - Clinical Modification CUI