@prefix bioregistry: <https://bioregistry.io/registry/> .
@prefix bioregistry.metaresource: <https://bioregistry.io/metaregistry/> .
@prefix bioregistry.schema: <https://bioregistry.io/schema/#> .
@prefix dcat: <http://www.w3.org/ns/dcat#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix orcid: <https://orcid.org/> .
@prefix prefixcommons: <https://registry.bio2kg.org/resource/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:collagenmutdb .

bioregistry.metaresource:prefixcommons dcterms:hasPart prefixcommons:cmd .

bioregistry:collagenmutdb a bioregistry.schema:0000001 ;
    rdfs:label "Collagen Mutation Database" ;
    dcterms:description "This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1 and PPIB genes."^^xsd:string ;
    dcterms:isPartOf bioregistry.metaresource:bioregistry ;
    skos:exactMatch prefixcommons:cmd ;
    dcat:keyword "gene" ;
    foaf:homepage <http://www.le.ac.uk/genetics/collagen/> ;
    bioregistry.schema:0000005 "COL3A1"^^xsd:string ;
    bioregistry.schema:0000006 "https://eds.gene.le.ac.uk/home.php?select_db=$1"^^xsd:string ;
    bioregistry.schema:0000011 bioregistry:hgnc.symbol ;
    bioregistry.schema:0000012 false ;
    bioregistry.schema:0000021 orcid:0000-0003-4423-4370 ;
    bioregistry.schema:0000024 "https://eds.gene.le.ac.uk/home.php?select_db="^^xsd:string ;
    bioregistry.schema:0000027 <https://eds.gene.le.ac.uk/home.php?select_db=COL3A1> ;
    bioregistry.schema:0000029 "collagenmutdb" .

orcid:0000-0003-4423-4370 rdfs:label "Charles Tapley Hoyt" ;
    foaf:mbox "cthoyt@gmail.com" .

prefixcommons:cmd dcterms:isPartOf bioregistry.metaresource:prefixcommons .

