Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome
Disease ID: disease_node_18939
Connections displayed (default: 10).
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| Dbxref | GARD:12199, MIM:614399, ORDO:439212 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Synonyms | EMARDD, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, congenital myopathy 10A |
| Doid Label | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
| Doid Description | A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18939 |
| Doid Id | DOID_0111333 |
| Label | Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)