Preferred Name

Pentalogy of Cantrell

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99011

code

C99011

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum.

FULL_SYN

Pentalogy of Cantrell

label

Pentalogy of Cantrell

Preferred_Name

Pentalogy of Cantrell

prefixIRI

Thesaurus:C99011

prefLabel

Pentalogy of Cantrell

Semantic_Type

Congenital Abnormality

UMLS_CUI

C0559483

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97151

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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http://purl.bioontology.org/ontology/LNC/LA19593-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D058502 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0010742 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010742 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_1335 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM