WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:11589 Riley-Day syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  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.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:0050548 hereditary sensory neuropathy A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
DOID:11589 Riley-Day syndrome 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.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050548 DOID:11589
is_a DOID:574 DOID:11589
is_a DOID:863 DOID:11589
is_a DOID:7 DOID:11589
is_a DOID:4 DOID:11589
is_a DOID:870 DOID:11589

3 Synonyms

Name Type
familial autonomic nervous dysfunction synonym
familial dysautonomia synonym
HSAN III synonym