Congenital Muscular Dystrophy With Cataracts And Intellectual Disability
Disease ID: disease_node_17422
Connections displayed (default: 10).
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| Dbxref | MIM:617404 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050557 |
| Data Source | DOID |
| Doid Label | congenital muscular dystrophy with cataracts and intellectual disability |
| Doid Description | A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17422 |
| Doid Id | DOID_0080197 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy With Cataracts And Intellectual Disability |
- 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 Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy(ID:disease_node_17393) (Disease)