Distal Arthrogryposis Type 2B1
Disease ID: disease_node_15788
Connections displayed (default: 10).
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| Dbxref | MIM:601680 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111599 |
| Data Source | DOID |
| Synonyms | DA2B1 |
| Doid Label | distal arthrogryposis type 2B1 |
| Doid Description | A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15788 |
| Doid Id | DOID_0111600 |
| Label | Distal Arthrogryposis Type 2B1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)