Preferred Label : Multiple pterygium syndrome, lethal type;
Symbol : LMPS;
CISMeF acronym : LMPS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pterygium syndrome, multiple, lethal type;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene
(CHRNG, 100730.0002); Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene
(CHRND, 100720.0005); Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle
gene (CHRNA1, 100690.0013);
Prefixed ID : #253290;
Origin ID : 253290;
UMLS CUI : C1854678;
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)
Validated automatic mappings to NTBT