distal arthrogryposis type 1C Disease Ontology Browser

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Disease Ontology Browser

distal arthrogryposis type 1C (DOID:0112190)
Alliance: disease page
Synonyms: DA1C
Alt IDs: OMIM:619110
Definition: A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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