Distal Arthrogryposis Type 1C
Disease ID: disease_node_15781
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619110 |
|---|---|
| Subclassof | DOID_0111596, DOID_0050739 |
| Data Source | DOID |
| Synonyms | DA1C |
| Doid Label | distal arthrogryposis type 1C |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_15781 |
| Doid Id | DOID_0112190 |
| Label | Distal Arthrogryposis Type 1C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease)