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PrefixNamespace IRI
n10http://caligraph.org/ontology/ICD-9_code_240%E2%80%93279:_endocrine,_nutritional_and_metabolic_diseases,
n9http://en.wikipedia.org/wiki/List_of_ICD-9_codes_240%E2%80%93279:_endocrine,_nutritional_and_metabolic_diseases,
n5http://en.wikipedia.org/wiki/Category:
rdfshttp://www.w3.org/2000/01/rdf-schema#
skoshttp://www.w3.org/2004/02/skos/core#
n8http://en.wikipedia.org/wiki/List_of_diseases_(D)
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
n14http://caligraph.org/resource/Smith%E2%80%93Lemli%E2%80%93
clgohttp://caligraph.org/ontology/
n6http://en.wikipedia.org/wiki/
provhttp://www.w3.org/ns/prov#
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dbrhttp://dbpedia.org/resource/
clgrhttp://caligraph.org/resource/
Subject Item
clgr:DiGeorge_syndrome
rdf:type
clgo:Syndrome_with_craniofacial_abnormalities clgo:Noninfectious_immunodeficiency-related_cutaneous_condition clgo:Syndrome_affecting_teeth clgo:Autosomal_monosomy_or_deletion clgo:Medical_mnemonic clgo:Chromosomal_abnormality clgo:Eponymous_disease clgo:Genetic_disorder clgo:Skin_condition clgo:Genetic_anomaly n10:_and_immunity_disorders owl:NamedIndividual clgo:Syndrome_affecting_the_heart clgo:Autosomal_dominant_disorder clgo:Condition_treated_with_hematopoietic_stem_cell_transplantation clgo:Primary_immunodeficiency
rdfs:label
DiGeorge syndrome
owl:sameAs
dbr:DiGeorge_syndrome
prov:wasDerivedFrom
n5:Syndromes_affecting_teeth n6:List_of_primary_immunodeficiencies n6:List_of_skin_conditions n6:Micrognathism n8: n6:List_of_conditions_treated_with_hematopoietic_stem_cell_transplantation n6:DiGeorge_syndrome n5:Noninfectious_immunodeficiency-related_cutaneous_conditions n6:Microdeletion_syndrome n6:1968_in_science n5:Autosomal_monosomies_and_deletions n6:List_of_genetic_disorders n6:Neonatology n6:Immune_disorder n6:Aneuploidy n6:Syndromes_affecting_the_heart n6:List_of_syndromes n6:VACTERL_association n6:Low-set_ears n6:Hypoplasia n9:_and_immunity_disorders n5:Chromosomal_abnormalities n5:Autosomal_dominant_disorders n5:Medical_mnemonics n5:Genetic_anomalies n6:List_of_eponymous_diseases n5:Syndromes_affecting_the_heart n5:Syndromes_with_craniofacial_abnormalities n6:Chromosome_22 n6:Aplasia n6:List_of_medical_mnemonics
skos:prefLabel
DiGeorge syndrome
skos:altLabel
DiGeorge or velocardiofacial syndromes velo-cardio-facial syndrome 22q11.2 deletion/duplication (velocardiofacial/DiGeorge syndrome) 22q11.2 deletion velocardiofacial syndrome DiGeorge Syndrome DiGeorge 22q11 Velo-Cardio-Facial syndrome deletion syndrome CATCH22 22q11.2 deletion syndrome
clgo:complications
Kidney problems,hearing loss,autoimmune disorders
clgo:differentialDiagnosis
clgr:Alagille_syndrome clgr:VACTERL_association n14:Opitz_syndrome clgr:Goldenhar_syndrome
clgo:diseasesDB
3631
clgo:eMedicineSubject
med
clgo:eMedicineTopic
567
clgo:geneReviewsId
NBK1523
clgo:geneReviewsName
22q11.2 Deletion Syndrome
clgo:icd10
D82.1
clgo:icd9
279.11 , 758.32
clgo:medicalCause
clgr:Genetics
clgo:medicalDiagnosis
clgr:Genetic_testing
clgo:omim
188400
clgo:orpha
567
clgo:symptom
clgr:Congenital_heart_defect clgr:Cleft_lip_and_cleft_palate
clgo:treatment
clgr:Interdisciplinarity
Subject Item
clgr:Williams_syndrome
clgo:differentialDiagnosis
clgr:DiGeorge_syndrome
Subject Item
clgr:Angelo_DiGeorge
clgo:knownFor
clgr:DiGeorge_syndrome