loading...| 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 |
ORDO:87503 ICD10CM:Q82.8 OMIM:248300 |
|
| 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. |
|
| has_exact_synonym |
transgrediens palmoplantar keratoderma of Siemens keratosis palmoplantaris transgrediens of Siemens Meleda disease |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
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 |
DOID:0060862 |
|
| label |
mal de Meleda |
|
| notation |
DOID:0060862 |
|
| prefLabel |
mal de Meleda |
|
| subClassOf |