Search Ontology:
Human Disease

distal arthrogryposis type 1B

Term ID
DOID:0111598
Synonyms
  • DA1B
Definition
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. https://www.ncbi.nlm.nih.gov/pubmed/20045868
References
Ontology
Human Disease   ( DOID:0111598 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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