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Statements

Subject Item
dbr:MDP_syndrome
rdf:type
yago:PhysicalCondition114034177 yago:Attribute100024264 yago:WikicatMetabolicDisorders yago:Defect114464005 yago:WikicatGeneticDisorders yago:Abnormality114501726 yago:IllHealth114052046 wikidata:Q12136 yago:Disease114070360 yago:Imperfection114462666 yago:BirthDefect114465048 yago:GeneticDisease114151139 yago:Abstraction100002137 yago:Disorder114052403 yago:MetabolicDisorder114084502 yago:PathologicalState114051917 owl:Thing yago:Condition113920835 yago:Illness114061805 dbo:Disease yago:State100024720 yago:WikicatCongenitalDisorders yago:Anomaly114505821
rdfs:label
MDP syndrome
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.
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MDP syndrome
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MDP syndrome
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dbc:Rare_syndromes dbc:Syndromes_with_craniofacial_abnormalities dbc:Congenital_disorders dbc:Metabolic_disorders dbc:Intersex_variations dbc:Genetic_diseases_and_disorders
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dbp:caption
This condition is inherited in an autosomal dominant manner
dbp:synonyms
Mandibular hypoplasia-deafness-progeroid syndrome
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.
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