1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070151 | hereditary sensory and autonomic neuropathy type 6 | A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |