Riley-Day syndrome
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0015914
primary orthostatic hypotension
excluded_subClassOf
MONDO:0020194
obsolete congenital alacrima (obsolete MONDO:0020194)
excluded_subClassOf
MONDO:0021154
dermis disorder
excluded_subClassOf
MONDO:0021635
neurocristopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
Dysautonomia, Familial
exact
HSAN 3
exact
HSAN III
exact
HSAN3
exact
HSN 3
exact
Riley Day syndrome
exact
Riley-Day syndrome
exact
dysautonomia, familial
related
familial dysautonomia
exact
hereditary sensory and autonomic neuropathy 3
exact
hereditary sensory and autonomic neuropathy type 3
exact
hereditary sensory and autonomic neuropathy type III
exact
hereditary sensory neuropathy type 3
exact
neuropathy, hereditary sensory and autonomic, type 3
exact
neuropathy, hereditary sensory and autonomic, type III
exact
SPBC36.07