Autosomal Recessive Distal Hereditary Motor Neuronopathy 1
Disease ID: disease_node_18016
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| Dbxref | ICD10CM:G12.2, MIM:604320, ORDO:98920 |
|---|---|
| Subclassof | DOID_0111197 |
| Data Source | DOID |
| Synonyms | DSMA1, SIANRF, SMARD1, autosomal recessive distal spinal muscular atrophy 1, autosomal recessive spinal muscular atrophy with respiratory distress, dHMN6, diaphragmatic spinal muscular atrophy, distal hereditary motor neuropathy type 6, distal spinal muscular atrophy 1, distal-HMN type 6, severe infantile axonal neuropathy with respiratory failure type 1, spinal muscular atrophy with respiratory distress type 1 |
| Doid Label | autosomal recessive distal hereditary motor neuronopathy 1 |
| Doid Description | A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predomitly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18016 |
| Doid Id | DOID_0111064 |
| Label | Autosomal Recessive Distal Hereditary Motor Neuronopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Distal Hereditary Motor Neuronopathy(ID:disease_node_18014) (Disease)