Vohwinkel syndrome, variant form

Preferred Label : Vohwinkel syndrome, variant form;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vohwinkel syndrome with ichthyosis; Mutilating keratoderma with ichthyosis; Loricrin keratoderma;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the loricrin gene (LOR, 152445.0001);

Prefixed ID : #604117;

Détails

Origin ID

604117;

UMLS CUI

C1858805;

Currated CISMeF NLP mapping
- Keratoderma hereditarium mutilans with ichthyosis [ORDO Disease]
- Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) [SNOMED CT concept]
- Loricrin palmoplantar keratoderma with ichthyosis [ICD-11 More detail]
- vohwinkel syndrome, variant form [MeSH concept]
- vohwinkel syndrome, variant form [MeSH Supplementary Concept]
Genes related to phenotype
- Loricrin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypergranulosis [HPO term]
- Hyperkeratosis [HPO term]
- Orthokeratosis [HPO term]
- Parakeratosis [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Hearing abnormality [HPO term]
ORDO concept(s)
- Keratoderma hereditarium mutilans with ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratoderma hereditarium mutilans with ichthyosis [ORDO Disease]
- Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) [SNOMED CT concept]
- vohwinkel syndrome, variant form [MeSH Supplementary Concept]
- vohwinkel syndrome, variant form [MeSH concept]

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