National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Meckel-Gruber Syndrome
Synonyms	Meckel Syndrome Meckel-Gruber Syndrome
Definitions	A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98978
code	C98978
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	Cellosaurus NICHD
DEFINITION	A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations.
FULL_SYN	Meckel Syndrome Meckel-Gruber Syndrome
label	Meckel-Gruber Syndrome
Preferred_Name	Meckel-Gruber Syndrome
prefixIRI	Thesaurus:C98978
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0265215
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Meckel-Gruber_Syndrome	CSEO	LOOM
http://purl.obolibrary.org/obo/NCIT_C98978	BERO	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00604	SNMI	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/29076005	SNOMEDCT	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Meckel-Gruber_Syndrome	PEDTERM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265215	OCHV	LOOM
http://purl.jp/bio/4/id/200906088159095631	IOBC	LOOM