Preferred Name |
mal de Meleda |
|
Synonyms |
transgrediens palmoplantar keratoderma of Siemens |
|
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 |
|
database_cross_reference |
OMIM:248300 ICD10CM:Q82.8 ORDO:87503 |
|
has exact synonym |
transgrediens palmoplantar keratoderma of Siemens keratosis palmoplantaris transgrediens of Siemens Meleda disease |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060862 |
|
in_subset | ||
label |
mal de Meleda |
|
notation |
DOID:0060862 |
|
prefLabel |
mal de Meleda |
|
textual 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. |
|
subClassOf |