Visualize Submit Comment

Metadata
ID	DOID:0111601
Name	distal arthrogryposis type 2B2
Definition	A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/12865991
Xrefs	MIM:618435
Synonyms	DA2B2 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a distal arthrogryposis type 2B
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance