@prefix biocontext: <https://bioregistry.io/metaregistry/biocontext/> .
@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 edam: <http://edamontology.org/data_> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix integbio: <https://catalog.integbio.jp/dbcatalog/en/record/> .
@prefix miriam: <https://registry.identifiers.org/registry/> .
@prefix n2t: <https://bioregistry.io/metaregistry/n2t/resolve/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix ror: <https://ror.org/> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

bioregistry.metaresource:biocontext dcterms:hasPart biocontext:HGMD .

bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:hgmd .

bioregistry.metaresource:edam dcterms:hasPart edam:3265 .

bioregistry.metaresource:integbio dcterms:hasPart integbio:nbdc00097 .

bioregistry.metaresource:miriam dcterms:hasPart miriam:hgmd .

bioregistry.metaresource:n2t dcterms:hasPart n2t:hgmd .

bioregistry:hgmd a bioregistry.schema:0000001 ;
    rdfs:label "Human Gene Mutation Database" ;
    dcterms:description "The Human Gene Mutation Database (HGMD) collates data on germ-line mutations in nuclear genes associated with human inherited disease. It includes information on single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation entry is unique, and includes cDNA reference sequences for most genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases."^^xsd:string ;
    dcterms:isPartOf bioregistry.metaresource:bioregistry ;
    skos:exactMatch edam:3265,
        biocontext:HGMD,
        n2t:hgmd,
        integbio:nbdc00097,
        miriam:hgmd ;
    dcat:keyword "cdna/est",
        "genome/gene",
        "health/disease",
        "sequence" ;
    foaf:homepage <http://www.hgmd.cf.ac.uk/ac/index.php> ;
    bioregistry.schema:0000005 "CALM1"^^xsd:string ;
    bioregistry.schema:0000006 "http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$1"^^xsd:string ;
    bioregistry.schema:0000008 "^[A-Z_0-9]+$"^^xsd:string ;
    bioregistry.schema:0000012 false ;
    bioregistry.schema:0000024 "http://www.hgmd.cf.ac.uk/ac/gene.php?gene="^^xsd:string ;
    bioregistry.schema:0000026 ror:03kk7td41 ;
    bioregistry.schema:0000027 <http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CALM1> ;
    bioregistry.schema:0000029 "hgmd" .

edam:3265 dcterms:isPartOf bioregistry.metaresource:edam .

biocontext:HGMD dcterms:isPartOf bioregistry.metaresource:biocontext .

n2t:hgmd dcterms:isPartOf bioregistry.metaresource:n2t .

integbio:nbdc00097 dcterms:isPartOf bioregistry.metaresource:integbio .

miriam:hgmd dcterms:isPartOf bioregistry.metaresource:miriam .