Distal Arthrogryposis Type 5D
Disease ID: disease_node_15789
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615065, ORDO:329457, SNOMEDCT_US_2021_09_01:773396009 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050646 |
| Data Source | DOID |
| Synonyms | DA5D, distal arthrogryposis type 5 without ophthalmoparesis, distal arthrogryposis type 5 without ophthalmoplegia |
| Doid Label | distal arthrogryposis type 5D |
| Doid Description | A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15789 |
| Doid Id | DOID_0111594 |
| Label | Distal Arthrogryposis Type 5D |
- Outgoing r'ship
SUBCLASS_OFto/from Distal Arthrogryposis(ID:disease_node_15783) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)