loading...| Preferred Name |
Familial Dysautonomia |
|
| Synonyms |
Familial Dysautonomia hereditary sensory and autonomic neuropathy type III Riley-Day Syndrome Hereditary Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary Sensory and Autonomic, Type III Familial dysautonomia HSAN 3 HSAN III Riley- Day |
|
| Definitions |
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84706 |
|
| ALT_DEFINITION |
A dysautonomia due to a genetic disorder associated with an abnormality of the sensory and autonomic nerves, decreased sensation of pain and decreased production of tears. |
|
| code |
C84706 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409 |
|
| Contributing_Source |
Cellosaurus ACC/AHA |
|
| DEFINITION |
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. |
|
| FULL_SYN |
Familial Dysautonomia hereditary sensory and autonomic neuropathy type III Riley-Day Syndrome Hereditary Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary Sensory and Autonomic, Type III Familial dysautonomia HSAN 3 HSAN III Riley- Day |
|
| label |
Familial Dysautonomia |
|
| Preferred_Name |
Familial Dysautonomia |
|
| prefixIRI |
Thesaurus:C84706 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0013364 |
|
| subClassOf |