. "Marshall syndrome"^^ . "SNOMEDCT_US_2021_09_01:33410002"^^ . "GARD:6984"^^ . "MRSHS"@en . "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome."^^ . "deafness, myopia, cataract, saddle nose-Marshall type"@en . "NCI:C128115"^^ . "MESH:C536025"^^ . . "disease_ontology"^^ . "ORDO:560"^^ . "OMIM:154780"^^ . "DOID:0111510"^^ . . "UMLS_CUI:C0265235"^^ .