OBO ID: DOID:0070150
Term Name: hereditary sensory and autonomic neuropathy type 2B Search Ontology:
Synonyms:
  • hereditary sensory and autonomic neuropathy type IIB
  • HSAN2B
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. (2)
References:
Ontology: Human Disease   (DOID:0070150)
OTHER hereditary sensory and autonomic neuropathy type 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RETREG1 Neuropathy, hereditary sensory and autonomic, type IIB 613115
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None