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DOID:0050558 - Ullrich congenital muscular dystrophy
Disease Ontology Definition:A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.
Synonyms: ULLRICH DISEASE, Ullrich scleroatonic muscular dystrophy
Xenbase Genes
:
col6a3,
col6a1,
col12a1,
col6a2
| MONDO:0000355 - pharyngeal mucosa |
| MIM:254090 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
autosomal recessive disease (is_a),
congenital muscular dystrophy (is_a)