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loading...| Preferred Name |
Familial Dysautonomia |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84706 |
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| 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. |
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| code |
C84706 |
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| Contributing_Source |
Cellosaurus ACC/AHA |
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| 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. |
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| in_subset | ||
| label |
Familial Dysautonomia |
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| Preferred_Name |
Familial Dysautonomia |
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| prefixIRI |
NCIT:C84706 |
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| prefLabel |
Familial Dysautonomia |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0013364 |
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| subClassOf |
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