Hereditary Sensory And Autonomic Neuropathy Type 2B
Disease ID: disease_node_19418
Connections displayed (default: 10).
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| Dbxref | MIM:613115 |
|---|---|
| Subclassof | DOID_0070161, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HSAN2B, hereditary sensory and autonomic neuropathy type IIB |
| Doid Label | hereditary sensory and autonomic neuropathy type 2B |
| Doid Description | A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19418 |
| Doid Id | DOID_0070150 |
| Label | Hereditary Sensory And Autonomic Neuropathy Type 2B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease(ID:disease_node_2018) (Disease)