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Disease Ontology Term: autosomal recessive limb-girdle muscular dystrophy type 2K

DO ID
DOID:0110297
Description
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
Synonyms
LGMD2K, limb-girdle muscular dystrophy-intellectual disability syndrome, MDDGC1, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1, muscular dystrophy limb-girdle type 2K
View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

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Annotations

Manually Curated

There are no manually curated annotations for autosomal recessive limb-girdle muscular dystrophy type 2K.

High-throughput

There are no high-throughput annotations for autosomal recessive limb-girdle muscular dystrophy type 2K.

Computational

There are no computational annotations for autosomal recessive limb-girdle muscular dystrophy type 2K.