Preferred Name

Jeune Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84794

code

C84794

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure.

FULL_SYN

Jeune Syndrome

Asphyxiating Thoracic Dystrophy

label

Jeune Syndrome

Preferred_Name

Jeune Syndrome

prefixIRI

Thesaurus:C84794

prefLabel

Jeune Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265275

subClassOf

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_474 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537571 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0018770 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018770 Experimental Factor Ontology / 实验性因素本体 LOOM