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bn:01061351n
Noun Concept
Categories: Articles with short description, Ciliopathy, Genetic disorders
EN
ciliopathy  Cilia defect  ciliopathic  ciliopathies  Cilopathy
EN
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Wikipedia
Definitions
Relations
Sources
EN
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Wikipedia
Genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia Wikidata
Any of a range of genetic disorders involving defects in the cilia or flagella of cells. Wiktionary
IS A
rare disease
genetic disease
disease
syndrome
monogenic disease
HAS KIND
Joubert syndrome
Meckel–Gruber syndrome
RHYNS syndrome
primary ciliary dyskinesia
Asphyxiating thoracic dysplasia
GENETIC ASSOCIATION
OFD1
DNAI1
TMEM67
CEP164
DCDC2
HEALTH SPECIALTY
medical genetics
Wikipedia
EN
ciliopathy
Wikidata
EN
ciliopathy
Wiktionary
EN
ciliopathy
Wikipedia Redirections
EN
Cilia defect, ciliopathic, ciliopathies, Cilopathy
Wikidata Alias
EN
ciliopathies

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