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Disease Ontology Browser
distal arthrogryposis type 5D (DOID:0111594)
Alliance: disease page
Synonyms: DA5D; distal arthrogryposis type 5 without ophthalmoparesis; distal arthrogryposis type 5 without ophthalmoplegia
Alt IDs: OMIM:615065, ORDO:329457
Definition: A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory