Preferred Label : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired
intellectual development;
Symbol : COB1;
CISMeF acronym : COB1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental
retardation;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the 65-kd YES-associated protein-1 gene (YAP1, 606608.0001);
Prefixed ID : #120433;
Origin ID : 120433;
UMLS CUI : C3805432;
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)