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;
Origin ID : 148350;
UMLS CUI : C1835672;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)