Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	ciliopathy
Definitions	A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
ID	http://purl.obolibrary.org/obo/DOID_0060340
created_by	emitraka
creation_date	2015-05-21T10:41:29Z
definition	A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
disease has basis in	http://purl.obolibrary.org/obo/SO_0000704
has_obo_namespace	disease_ontology
id	DOID:0060340
label	ciliopathy
notation	DOID:0060340
prefLabel	ciliopathy
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050177

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