| Metadata | |
|---|---|
| ID | DOID:0110801 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110801 Copy |
| Name | hereditary sensory and autonomic neuropathy type 9 |
| Definition | A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that has_material_basis_in homozygous or compound heterozygous mutation in the TECPR2 gene on chromosome 14q32. Additional symptoms due to peripheral neuropathy or autonomic dysfunction are more variable. https://www.ncbi.nlm.nih.gov/pubmed/23176824, https://www.ncbi.nlm.nih.gov/books/NBK584409/, https://pubmed.ncbi.nlm.nih.gov/33847017/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:783198006 |
| SKOS |
exactMatch MIM:615031 exactMatch UMLS_CUI:C5190860 exactMatch ORDO:320385 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 49 [EXACT] hereditary sensory and autonomic neuropathy type IX [EXACT] HSAN9 [EXACT] SPG49 [EXACT] TECPR2-related hereditary sensory and autonomic neuropathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |