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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:0019950 - congenital muscular dystrophy |
Other Model Organisms: AGR, 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)