FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term distal arthrogryposis type 5D ID (Ontology) DOID:0111594 (Human Disease)
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.
Also Known As "DA5D" ; "distal arthrogryposis type 5 without ophthalmoparesis" ; "distal arthrogryposis type 5 without ophthalmoplegia"
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 Genes
 distal arthrogryposis type 5D      15
 for disease ribbon | distal arthrogryposis type 5D      15
 model of | distal arthrogryposis type 5D      15
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
muscle tissue disease            |
 |__distal arthrogryposis________|
                                 distal arthrogryposis type 5D  15 rec.
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Is a distal arthrogryposis
autosomal recessive disease
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Synonyms
  • "DA5D" EXACT OMO:0003012
    "distal arthrogryposis type 5 without ophthalmoparesis" EXACT
    "distal arthrogryposis type 5 without ophthalmoplegia" EXACT
Secondary IDs
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MIM:615065
ORDO:329457
SNOMEDCT_US_2021_09_01:773396009