OBO ID: DOID:0112190
Term Name: distal arthrogryposis type 1C Search Ontology:
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 )
OTHER distal arthrogryposis type 1C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MYLPF Arthrogryposis, distal, type 1C 619110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None