Preferred Label : Zimmermann-laband syndrome 1;
Symbol : ZLS1;
CISMeF acronym : ZLS1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Laband syndrome; Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly;
Description : Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis,
dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly,
hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by
Balasubramanian and Parker, 2010).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the potassium channel, voltage-gated, subfamily H, member-1
gene (KCNH1, 603305.0005);
Prefixed ID : #135500;
Origin ID : 135500;
UMLS CUI : C4551773;
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)