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Preferred Name

Primary Ciliary Dyskinesia 29
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C172393
code

C172393
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

An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCNO gene, encoding cyclin-O.
FULL_SYN

Primary Ciliary Dyskinesia 29

CILD29
label

Primary Ciliary Dyskinesia 29
Preferred_Name

Primary Ciliary Dyskinesia 29
prefixIRI

Thesaurus:C172393
prefLabel

Primary Ciliary Dyskinesia 29
Semantic_Type

Disease or Syndrome
UMLS_CUI

C4014534
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84638
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110600 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0014378 Mondo Disease Ontology / Mondo疾病本体 LOOM