FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

ciliopathy

Synonyms
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

definition

A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

ciliopathy

prefixIRI

DOID:0060340

prefLabel

ciliopathy

subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

http://purl.obolibrary.org/obo/DOID_225

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