Search Ontology:
Human Disease

distal arthrogryposis type 1A

Term ID
DOID:0111597
Synonyms
  • DA1A
Definition
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. https://www.ncbi.nlm.nih.gov/pubmed/12592607
References
Ontology
Human Disease   ( DOID:0111597 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations