Metadata | |
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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 |