congenital muscular dystrophy

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Echinobase

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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: LOC587274, pomgnt1, pomt1, pomt2, selenon, b3galnt2, b4gat1, crppa, gmppb, rxylt1, pomgnt2

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)