_:vb50944952	<http://www.w3.org/2002/07/owl#annotatedTarget>	"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."^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50944952	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/25073711"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50944952	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/9529347"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50944952	<http://purl.org/dc/elements/1.1/type>	<http://purl.obolibrary.org/obo/ECO_0007645> .
_:vb50944952	<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>	<http://www.w3.org/2002/07/owl#Axiom> .
_:vb50944952	<http://www.w3.org/2002/07/owl#annotatedProperty>	<http://purl.obolibrary.org/obo/IAO_0000115> .
_:vb50944952	<http://www.w3.org/2002/07/owl#annotatedSource>	<http://purl.obolibrary.org/obo/DOID_0111510> .
_:vb50944952	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/13520885"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50944952	<http://www.w3.org/2007/05/powder-s#describedby>	<https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl> .