| Metadata | |
|---|---|
| ID | DOID:11589 |
| PURL | http://purl.obolibrary.org/obo/DOID_11589 Copy |
| Name | familial dysautonomia |
| Definition | A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death. https://pubmed.ncbi.nlm.nih.gov/26769677/, https://pubmed.ncbi.nlm.nih.gov/31222456/, https://www.ncbi.nlm.nih.gov/books/NBK1180/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:29159009 |
| SKOS |
exactMatch GARD:7581 exactMatch ICD10CM:G90.1 exactMatch MESH:D004402 exactMatch MIM:223900 exactMatch NCI:C84706 exactMatch ORDO:1764 exactMatch UMLS_CUI:C0013364 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hereditary sensory and autonomic neuropathy type 3 [EXACT] hereditary sensory and autonomic neuropathy type III [EXACT] HSAN III [EXACT] HSAN3 [EXACT] Riley-Day syndrome [EXACT] |
| Parent Relationships |