Haim-munk syndrome

Preferred Label : Haim-munk syndrome;

Symbol : HMS;

CISMeF acronym : HMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis palmoplantaris with periodontopathia and onychogryposis; Cochin jewish disorder;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cathepsin C gene (CTSC, 602365.0006);

Prefixed ID : #245010;

Détails

Origin ID

245010;

UMLS CUI

C1855627;

Automatic exact mappings (from CISMeF team)
- HMS liquifilm [MeSH concept]
- Haim Munk syndrome (disorder) [SNOMED CT concept]
- medrysone [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Haim-Munk syndrome [ORDO Disease]
- Keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH concept]
- keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH Supplementary Concept]
False automatic mappings
- Heard Island and McDonald Islands [NCIt concept]
Genes related to phenotype
- Cathepsin C [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital palmoplantar hyperkeratosis [HPO term]
- Onychogryposis [HPO term]
- Onychogryposis [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Pes planus [HPO term]
- Recurrent bacterial skin infections [HPO term]
- Severe periodontitis [HPO term]
- Tapering pointed ends of distal finger phalanges [HPO term]
ORDO concept(s)
- Haim-Munk syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Haim Munk syndrome (disorder) [SNOMED CT concept]
- Haim-Munk syndrome [ORDO Disease]
- Keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH concept]
- keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH Supplementary Concept]

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