@prefix biocontext: .
@prefix bioregistry: .
@prefix bioregistry.metaresource: .
@prefix bioregistry.schema: .
@prefix dcterms: .
@prefix edam.data: .
@prefix foaf: .
@prefix integbio: .
@prefix miriam: .
@prefix n2t: .
@prefix rdfs: .
@prefix skos: .
@prefix xsd: .
bioregistry.metaresource:biocontext dcterms:hasPart biocontext:HGMD .
bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:hgmd .
bioregistry.metaresource:edam dcterms:hasPart edam.data: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.data:3265,
biocontext:HGMD,
n2t:hgmd,
integbio:nbdc00097,
miriam:hgmd ;
foaf:homepage ;
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:0000027 ;
bioregistry.schema:0000029 "hgmd" .
edam.data: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 .