| 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://www.ncbi.nlm.nih.gov/books/NBK1180/, https://pubmed.ncbi.nlm.nih.gov/31222456/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:29159009 |
| SKOS |
exactMatch MESH:D004402 exactMatch ICD10CM:G90.1 exactMatch NCI:C84706 exactMatch GARD:7581 exactMatch UMLS_CUI:C0013364 exactMatch MIM:223900 exactMatch ORDO:1764 |
| 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 | |
| Subclass Logical Relationships |
existence starts during some Congenital onset or existence starts during some Neonatal onset has material basis in some autosomal recessive inheritance |