Mal de meleda - CISMeF

Preferred Label : Mal de meleda;

Symbol : MDM;

CISMeF acronym : MDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis palmoplantaris transgrediens of siemens; Meleda disease; Palmoplantar keratoderma, norrbotten recessive type; Palmoplantar keratoderma, gamborg nielsen type; PPKGN; PPKNR;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the secreted LY6/uPAR-related protein 1 gene (SLURP1, 606119.0001);

Prefixed ID : #248300;

Details

Origin ID

248300;

UMLS CUI

C0025221;

Automatic exact mappings (from CISMeF team)
- Mal de Meleda [ICD-11 More detail]
- keratoderma, palmoplantar [MeSH Descriptor]
- magnocellular part of medial dorsal nucleus [UBERON concept]
- n-methyl-3, 4-methylenedioxyamphetamine [SNOMED Notion]
- secreted LY6/PLAUR domain containing 1 [ORDO Gene]
- secreted LY6/PLAUR domain containing 1 [HGNC gene]
Currated CISMeF NLP mapping
- Acroerythrokeratoderma (disorder) [SNOMED CT concept]
- Mal de Meleda [ORDO Disease]
- Meleda disease [Disease (Nov.)]
- mal de Meleda [DO Concept]
- meleda disease [MeSH concept]
DO Cross reference
- mal de Meleda [DO Concept]
False automatic mappings
- Methylenedioxymethamphetamine [LOINC component]
Genes related to phenotype
- Secreted ly6/plaur domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Congenital symmetrical palmoplantar keratosis [HPO term]
- Fragile nails [HPO term]
- Hyperhidrosis [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Perioral erythema [HPO term]
ORDO concept(s)
- Mal de Meleda [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acroerythrokeratoderma (disorder) [SNOMED CT concept]
- Mal de Meleda [ORDO Disease]
- Meleda disease [Disease (Nov.)]
- mal de Meleda [DO Concept]
- meleda disease [MeSH concept]

Keyword's position in hierarchy(ies) :

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