Oculopalatoskeletal syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (Human Disease Ontology, DOID_0060225)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C537738
Similar Terms
Downloads & Tools


2 genes/proteins associated with the disease Oculopalatoskeletal syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
COLEC11 collectin sub-family member 11 2.88009
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 2.88009