| Metadata | |
|---|---|
| ID | DOID:0111600 |
| Name | distal arthrogryposis type 2B1 |
| Definition | A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/12592607 |
| Xrefs | |
| Synonyms |
DA2B1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |