FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

mal de Meleda

Synonyms
Definitions

A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.

ID

http://purl.obolibrary.org/obo/DOID_0060862

definition

A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

mal de Meleda

prefixIRI

DOID:0060862

prefLabel

mal de Meleda

subClassOf

http://purl.obolibrary.org/obo/DOID_3390

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