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Cednik Syndrome (MONDO:0012290)

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

Overview

Category

integumentary system disorder

syndromic disease

Ontology ID

MONDO:0012290

Internal:13347

Synonyms

CEDNIK syndrome

cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Mapped terms

DOID:0060337

GARD:0009940

MEDGEN:332113

MESH:C537943

OMIM:609528

Orphanet:66631

SCTID:722385008

UMLS:C1836033

Child terms

Unknown children.

Results

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