| Metadata | |
|---|---|
| ID | DOID:0070689 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070689 Copy |
| Name | hereditary sensory and autonomic neuropathy type 2D |
| Definition | A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. https://pubmed.ncbi.nlm.nih.gov/23596073/ |
| Xrefs | |
| SKOS |
exactMatch GARD:0026489 exactMatch UMLS_CUI:C4012054 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type IID [EXACT] HSAN2D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |