A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. [ url:https://www.ncbi.nlm.nih.gov/pubmed/11897820 http://purl.obolibrary.org/obo/ECO_0007645 ]

This is just here as a test because I lose it

Term information

definition
  • A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
has obo namespace
  • disease_ontology
id
  • DOID:0110974