About: Perlman syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia-live.demo.openlinksw.com

Syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

Property	Value
dbo:alias	Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (en)
dbo:description	Krankheit (de) хвороба (uk) syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome (en) rara patologia genetica congenita (it)
dbo:icd10	C64
dbo:omim	267000 (xsd:integer)
dbo:orpha	2849
dbo:wikiPageWikiLink	dbr:Chromosome_2 dbr:Macrocephaly dbr:Cystic_hygroma dbr:Sotos_syndrome dbc:Syndromes_with_craniofacial_abnormalities dbr:Rare_disease dbr:Amniotic_sac dbr:Renal_cell_carcinoma dbr:Simpson–Golabi–Behmel_syndrome dbr:Amniotic_fluid dbr:Gestational_age_(obstetrics) dbr:Diagnosis dbr:Genetic_disorder dbc:Genetic_disorders_with_OMIM_but_no_gene dbc:Rare_syndromes dbr:Beckwith–Wiedemann_syndrome dbr:Wilms'_tumor dbr:Nasal_bridge dbc:Syndromes_affecting_head_size dbr:Visceromegaly dbc:Syndromes_with_tumors dbr:Multiple_abnormalities dbr:Polyhydramnios dbr:Weaver_syndrome dbr:G_banding dbr:Macrosomia dbr:Genetic_mutation dbr:Overgrowth_syndrome dbr:DIS3L2 dbr:Dysmorphology dbr:Prenatal_diagnosis dbr:Dysmorphic dbr:Occipitofrontal_circumference dbr:First_trimester dbr:Chromosome_11_(human) dbr:Consanguineous dbr:Neonatal_mortality dbr:Histological dbr:Nuchal_lucency
dbp:causes	DIS3L2 mutation (en)
dbp:complications	dbr:Wilms'_tumor
dbp:differential	dbr:Simpson–Golabi–Behmel_syndrome dbr:Beckwith–Wiedemann_syndrome
dbp:duration	Lifelong (en)
dbp:field	dbr:Medical_genetics dbr:Childhood_cancer
dbp:frequency	30 (xsd:integer)
dbp:icd	64.0 (dbd:nicaraguanCórdoba)
dbp:name	Perlman syndrome (en)
dbp:namedAfter	dbr:Max_Perlman
dbp:omim	267000 (xsd:integer)
dbp:onset	Prenatal or at birth (en)
dbp:orphanet	2849 (xsd:integer)
dbp:prognosis	High neonatal mortality (en)
dbp:qid	Q7169165 (en)
dbp:symptoms	Overgrowth, kidney dysplasia, facial dysmorphisms (en)
dbp:synonyms	Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (en)
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Infobox_medical_condition dbt:Congenital_abnormality_syndromes dbt:Medical_resources dbt:Short_description
dct:subject	dbc:Syndromes_affecting_the_kidneys dbc:Syndromes_with_craniofacial_abnormalities dbc:Diseases_named_after_discoverers dbc:Rare_syndromes dbc:Syndromes_with_macrocephaly dbc:Syndromes_with_tumors
gold:hypernym	dbr:Disorder
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease dbo:Disease
rdfs:label	Perlman syndrome (en) Perlman-Syndrom (de) Sindrome di Perlman (it) Zespół Perlmana (pl) Síndrome de Perlman (pt)
owl:sameAs	freebase:Perlman syndrome yago-res:Perlman syndrome wikidata:Perlman syndrome dbpedia-it:Perlman syndrome dbpedia-de:Perlman syndrome dbpedia-pt:Perlman syndrome dbpedia-pl:Perlman syndrome dbpedia-fi:Perlman syndrome dbpedia-global:Perlman syndrome dbr:Perlman syndrome
prov:wasDerivedFrom	wikipedia-en:Perlman_syndrome?oldid=1267691892&ns=0
foaf:isPrimaryTopicOf	wikipedia-en:Perlman_syndrome
is dbo:wikiPageRedirects of	dbr:Renal_hamartomas
is dbo:wikiPageWikiLink of	dbr:Macrocephaly dbr:Sotos_syndrome dbr:List_of_syndromes dbr:Ciliopathy dbr:Beckwith–Wiedemann_syndrome dbr:Wilms'_tumor dbr:Large_for_gestational_age dbr:Weaver_syndrome dbr:DIS3L2 dbr:Overgrowth dbr:Renal_hamartomas
is dbp:differential of	dbr:Beckwith–Wiedemann_syndrome
is foaf:primaryTopic of	wikipedia-en:Perlman_syndrome