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Summary Literature (0)
DOID:0050557 - congenital muscular dystrophy

Disease Ontology Definition:A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.

Synonyms:

Xenbase Genes : lmna, gmppb, pomt1, lama2, pomgnt1, fkrp, fktn, pomgnt2, pomk, itga7, inpp5k, col6a3, col6a1, pomt2, b4gat1, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019950 - congenital muscular dystrophy

MIM:
MIM:254100 - MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION; MDRP

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): muscular dystrophy (is_a), physical disorder (is_a)