Search Ontology:
Human Disease

distal arthrogryposis type 1C

Term ID
DOID:0112190
Synonyms
  • DA1C
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. https://pubmed.ncbi.nlm.nih.gov/32707087/
References
Ontology
Human Disease   ( DOID:0112190 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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