Keratoderma, palmoplantar, with deafness

Preferred Label : Keratoderma, palmoplantar, with deafness;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, 590080.0002); Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0015);

Prefixed ID : #148350;

Détails

Origin ID

148350;

UMLS CUI

C1835672;

Automatic exact mappings (from CISMeF team)
- palmoplantar keratoderma-deafness syndrome [DO Concept]
Currated CISMeF NLP mapping
- Palmoplantar Keratoderma with Deafness [MeSH concept]
- Palmoplantar Keratoderma with Deafness [MeSH Supplementary Concept]
- Palmoplantar keratoderma-deafness syndrome [ORDO Disease]
DO Cross reference
- palmoplantar keratoderma-deafness syndrome [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- high, narrow forehead [HPO term]
ORDO concept(s)
- Palmoplantar keratoderma-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Palmoplantar Keratoderma with Deafness [MeSH Supplementary Concept]
- Palmoplantar Keratoderma with Deafness [MeSH concept]
- Palmoplantar keratoderma with deafness syndrome (disorder) [SNOMED CT concept]
- Palmoplantar keratoderma-deafness syndrome [ORDO Disease]
- palmoplantar keratoderma-deafness syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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