@prefix rdf: . @prefix dbr: . @prefix yago: . dbr:MDP_syndrome rdf:type yago:PhysicalCondition114034177 , yago:Attribute100024264 , yago:WikicatMetabolicDisorders , yago:Defect114464005 , yago:WikicatGeneticDisorders , yago:Abnormality114501726 , yago:IllHealth114052046 . @prefix wikidata: . dbr:MDP_syndrome rdf:type wikidata:Q12136 , yago:Disease114070360 , yago:Imperfection114462666 , yago:BirthDefect114465048 , yago:GeneticDisease114151139 , yago:Abstraction100002137 , yago:Disorder114052403 , yago:MetabolicDisorder114084502 , yago:PathologicalState114051917 . @prefix owl: . dbr:MDP_syndrome rdf:type owl:Thing , yago:Condition113920835 , yago:Illness114061805 . @prefix dbo: . dbr:MDP_syndrome rdf:type dbo:Disease , yago:State100024720 , yago:WikicatCongenitalDisorders , yago:Anomaly114505821 . @prefix rdfs: . dbr:MDP_syndrome rdfs:label "MDP syndrome"@en ; rdfs:comment "MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide (less than 12 cases have been diagnosed as of December 2014). Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective."@en . @prefix foaf: . dbr:MDP_syndrome foaf:name "MDP syndrome"@en . @prefix dbp: . dbr:MDP_syndrome dbp:name "MDP syndrome"@en ; foaf:depiction . @prefix dcterms: . @prefix dbc: . dbr:MDP_syndrome dcterms:subject dbc:Rare_syndromes , dbc:Syndromes_with_craniofacial_abnormalities , dbc:Congenital_disorders , dbc:Metabolic_disorders , dbc:Intersex_variations , dbc:Genetic_diseases_and_disorders ; dbo:wikiPageID 39700685 ; dbo:wikiPageRevisionID 1094823802 ; dbo:wikiPageWikiLink dbr:Royal_Devon_and_Exeter_Hospital , dbr:Lipodystrophy , dbr:Royal_Devon_and_Exeter_NHS_Foundation_Trust , dbr:POLD1 , dbr:Hypogonadism , dbc:Rare_syndromes , dbr:Dysplasia , dbr:University_of_Exeter , dbr:Undescended_testes , dbr:Exeter_University , dbr:Progeroid_syndromes , dbc:Syndromes_with_craniofacial_abnormalities , dbr:Serine , dbc:Congenital_disorders , dbr:Deafness , dbr:Progeria , dbr:Metabolic_disorder , dbc:Intersex_variations , dbr:Metformin , dbr:Testosterone_replacement , dbc:Metabolic_disorders , dbr:Molecular_genetics , dbr:Tom_Staniford , dbr:Mandibular , dbc:Genetic_diseases_and_disorders , dbr:Audiometry ; owl:sameAs wikidata:Q17120696 . @prefix yago-res: . dbr:MDP_syndrome owl:sameAs yago-res:MDP_syndrome . @prefix ns12: . dbr:MDP_syndrome owl:sameAs ns12:fH4G , . @prefix dbt: . dbr:MDP_syndrome dbp:wikiPageUsesTemplate dbt:Medical_resources , , dbt:Reflist , dbt:Citation_needed , dbt:When ; dbo:thumbnail ; dbp:icd "E34.8"@en ; dbp:omim 615381 ; dbp:orphanet 363649 ; dbp:caption "This condition is inherited in an autosomal dominant manner"@en ; dbp:synonyms "Mandibular hypoplasia-deafness-progeroid syndrome"@en ; dbo:abstract "MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide (less than 12 cases have been diagnosed as of December 2014). Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective."@en . @prefix prov: . dbr:MDP_syndrome prov:wasDerivedFrom . @prefix xsd: . dbr:MDP_syndrome dbo:wikiPageLength "13736"^^xsd:nonNegativeInteger ; dbo:icd10 "E34.8" ; dbo:omim 615381 ; dbo:orpha "363649" . @prefix wikipedia-en: . dbr:MDP_syndrome foaf:isPrimaryTopicOf wikipedia-en:MDP_syndrome .