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loading...| Preferred Name |
facioscapulohumeral muscular dystrophy 1 |
| Synonyms |
FSHD1 |
| Definitions |
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111192 |
| database_cross_reference |
OMIM:158900 |
| definition |
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. |
| has exact synonym |
FSHD1 facioscapulohumeral muscular dystrophy type 1 facioscapulohumeral muscular dystrophy type 1A |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111192 |
| label |
facioscapulohumeral muscular dystrophy 1 |
| notation |
DOID:0111192 |
| prefLabel |
facioscapulohumeral muscular dystrophy 1 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/158900 | Online Mendelian Inheritance in Man | LOOM |