Online Mendelian Inheritance in Man - FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
Synonyms	LANDOUZY-DEJERINE MUSCULAR DYSTROPHY
ID	http://purl.bioontology.org/ontology/OMIM/158900
altLabel	LANDOUZY-DEJERINE MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY FSHD1 FSHD1A MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1 FSHD FMD
cui	C0238288 C1834673
Gene Locus	4q35
Gene Symbol	FSHD1A FSHD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000357 http://purl.bioontology.org/ontology/OMIM/MTHU019886 http://purl.bioontology.org/ontology/OMIM/MTHU024037 http://purl.bioontology.org/ontology/OMIM/MTHU013279 http://purl.bioontology.org/ontology/OMIM/MTHU024049 http://purl.bioontology.org/ontology/OMIM/MTHU024041 http://purl.bioontology.org/ontology/OMIM/MTHU024047 http://purl.bioontology.org/ontology/OMIM/MTHU024035 http://purl.bioontology.org/ontology/OMIM/MTHU024039 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU024051 http://purl.bioontology.org/ontology/OMIM/MTHU024045 http://purl.bioontology.org/ontology/OMIM/MTHU024043 http://purl.bioontology.org/ontology/OMIM/MTHU002207 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU002771 http://purl.bioontology.org/ontology/OMIM/MTHU024038 http://purl.bioontology.org/ontology/OMIM/MTHU041362 http://purl.bioontology.org/ontology/OMIM/MTHU024034 http://purl.bioontology.org/ontology/OMIM/MTHU005102 http://purl.bioontology.org/ontology/OMIM/MTHU024050 http://purl.bioontology.org/ontology/OMIM/MTHU024044 http://purl.bioontology.org/ontology/OMIM/MTHU003290 http://purl.bioontology.org/ontology/OMIM/MTHU024048 http://purl.bioontology.org/ontology/OMIM/MTHU024046 http://purl.bioontology.org/ontology/OMIM/MTHU024036 http://purl.bioontology.org/ontology/OMIM/MTHU024040
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	158900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536391	Medical Subject Headings	CUI
	http://purl.obolibrary.org/obo/DOID_0111192	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/D020391	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/ICD10CM/G71.0	International Classification of Diseases, Version 10 - Clinical Modification	CUI