uveal coloboma-cleft lip and palate-intellectual disability
autosomal dominant disease characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1
Press Enter · cited answer in seconds
0 sources
uveal coloboma-cleft lip and palate-intellectual disability
Summary
uveal coloboma-cleft lip and palate-intellectual disability is a head and neck disease[1].
Key Facts
- uveal coloboma-cleft lip and palate-intellectual disability's instance of is recorded as head and neck disease[2].
- uveal coloboma-cleft lip and palate-intellectual disability's instance of is recorded as developmental defect during embryogenesis[3].
- uveal coloboma-cleft lip and palate-intellectual disability's instance of is recorded as rare disease[4].
- uveal coloboma-cleft lip and palate-intellectual disability's instance of is recorded as class of disease[5].
- uveal coloboma-cleft lip and palate-intellectual disability is a type of orofacial clefting syndrome[6].
- uveal coloboma-cleft lip and palate-intellectual disability is a type of genetic syndromic intellectual disability[7].
- uveal coloboma-cleft lip and palate-intellectual disability is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[8].
- uveal coloboma-cleft lip and palate-intellectual disability's genetic association is recorded as YAP1[9].
- uveal coloboma-cleft lip and palate-intellectual disability's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1473[10].
- uveal coloboma-cleft lip and palate-intellectual disability's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111249[11].
- uveal coloboma-cleft lip and palate-intellectual disability's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].