Ectodermal dysplasia, Margarita Island type (EDMI) [MIM:225060]: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. {ECO:0000269|PubMed:10932188}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Non-syndromic orofacial cleft 7 (OFC7) [MIM:225060]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269|PubMed:10932188}. Note=The disease is caused by mutations affecting the gene represented in this entry.
MUTAGEN 82 82 N->Y: Impairs interaction with herpes simplex glycoprotein D. Decreases susceptibility to infection by herpes simplex virus. {ECO:0000269|PubMed:21980294}.; MUTAGEN 84 84 S->Y: Impairs interaction with herpes simplex glycoprotein D. Decreases susceptibility to infection by herpes simplex virus. {ECO:0000269|PubMed:21980294}.; MUTAGEN 129 129 F->A,S: Impairs interaction with herpes simplex glycoprotein D. Decreases susceptibility to infection by herpes simplex virus. {ECO:0000269|PubMed:21980294}.