| Metadata | |
|---|---|
| ID | DOID:0070150 |
| Name | hereditary sensory and autonomic neuropathy type 2B |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/19838196, https://www.ncbi.nlm.nih.gov/pubmed/24327336 |
| Xrefs | |
| Synonyms |
hereditary sensory and autonomic neuropathy type IIB [EXACT] HSAN2B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |