Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Z
Disease ID: disease_node_18909
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617232, ORDO:480682 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | limb-girdle muscular dystrophy 21 |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2Z |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Disease Node Id | disease_node_18909 |
| Doid Id | DOID_0080762 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Z |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)