loading...| Preferred Name |
Riley-Day syndrome |
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| Synonyms |
familial dysautonomia |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. |
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| ID |
http://purl.obolibrary.org/obo/DOID_11589 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:204087006 OMIM:223900 UMLS_CUI:C0013364 MESH:D004402 ICD10CM:G90.1 NCI:C84706 |
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| definition |
A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. |
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| equivalentClass | ||
| has exact synonym |
familial dysautonomia familial autonomic nervous dysfunction HSAN III |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:11589 |
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| in_subset | ||
| label |
Riley-Day syndrome |
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| notation |
DOID:11589 |
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| prefLabel |
Riley-Day syndrome |
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| subClassOf |