Compton-North Congenital Myopathy
Disease ID: disease_node_18960
Connections displayed (default: 10).
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| Dbxref | MIM:612540, ORDO:210163 |
|---|---|
| Subclassof | DOID_0080015, DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Synonyms | congenital myopathy 12 |
| Doid Label | Compton-North congenital myopathy |
| Doid Description | A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18960 |
| Doid Id | DOID_0080101 |
| Disease Has Basis In | HP_0001197 |
| Label | Compton-North Congenital Myopathy |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)