Preferred Name

facioscapulohumeral muscular dystrophy

Synonyms

FSH dystrophy

facioscapulohumeral myopathy

Landouzy Dejerine muscular dystrophy

Landouzy-Dejerine myopathy

Landouzy-Dejerine muscular dystrophy

FSHD

facioscapulohumeral muscular dystrophy

facioscapulohumeral dystrophy

muscular dystrophy, Landouzy-Dejerine

Definitions

An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.

ID

http://purl.obolibrary.org/obo/MONDO_0001347

has_exact_synonym

FSH dystrophy

facioscapulohumeral myopathy

Landouzy Dejerine muscular dystrophy

Landouzy-Dejerine myopathy

Landouzy-Dejerine muscular dystrophy

FSHD

facioscapulohumeral muscular dystrophy

facioscapulohumeral dystrophy

muscular dystrophy, Landouzy-Dejerine

label

facioscapulohumeral muscular dystrophy

prefixIRI

MONDO:0001347

prefLabel

facioscapulohumeral muscular dystrophy

textual definition

An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016106

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0100137

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http://purl.obolibrary.org/obo/MONDO_0001347 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0001347 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0001347 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001347 EFO LOOM
http://purl.obolibrary.org/obo/DOID_11727 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11727 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11727 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11727 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11727 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_11727 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/F3914 RCD LOOM
http://purl.bioontology.org/ontology/SNMI/DA-51240 SNMI LOOM
http://nanbyodata.jp/ontology/NANDO_2200859 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11727 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84704 NCIT LOOM
http://www.ebi.ac.uk/efo/EFO_0000491 CLO LOOM
http://nanbyodata.jp/ontology/NANDO_1200491 NANDO LOOM
http://purl.bioontology.org/ontology/RCTV2/F391400 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.02 ICD10CM LOOM
http://www.gamuts.net/entity#facioscapulohumeral_muscular_dystrophy GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064087 MEDDRA LOOM
http://localhost/plosthes.2017-1#11390 PLOSTHES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/399091004 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Facioscapulohumeral_Muscular_Dystrophy CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C84704 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU074134 OMIM LOOM