Visualize Submit Comment

Metadata
ID	DOID:0112190
Name	distal arthrogryposis type 1C
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/
Xrefs	MIM:619110
Synonyms	DA1C [EXACT]
Parent Relationships	is_a distal arthrogryposis type 1 is_a autosomal genetic disease
Subclass Logical Relationships	has material basis in some autosomal inheritance