MEDNIK syndrome
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0017762
disorder of copper metabolism
is_a
MONDO:0019270
erythrokeratoderma
is_a
MONDO:0100118
hereditary skin disorder
is_a
MEDNIK
related
erythrokeratodermia variabilis 3
exact
erythrokeratodermia variabilis, Kamouraska type
exact
intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
exact
intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
related
intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
exact
mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
related
SPBC947.02 SPAP27G11.06c