ZFIN Human Disease: ciliopathy

OBO ID: DOID:0060340

OBO ID: DOID:0060340

Term Name:	ciliopathy	Search Ontology:
Synonyms:
Definition:	A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (3)
References:
Ontology:	Human Disease ( DOID:0060340 )

Relationships

is a type of:	monogenic disease syndrome monogenic disease syndrome Show first 5 Terms
has subtype:	Joubert syndrome Meckel syndrome primary ciliary dyskinesia Joubert syndrome Meckel syndrome primary ciliary dyskinesia Show first 5 Terms

OTHER ciliopathy PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT	chemical treatment: 3-(2,4-dichlorophenyl)-7-hydroxy-4H-chromen-4-one	Burkhalter et al., 2019
	chemical treatment: rotenone	Burkhalter et al., 2019
si:dkey-243i1.1^{sa22657/sa22657}	standard conditions	Hammarsjö et al., 2017
AB + MO1-nherf1a	standard conditions	Treat et al., 2016
AB + MO2-nherf1a	standard conditions	Treat et al., 2016
AB + MO3-pkd2	standard conditions	Pala et al., 2019
AB/EKW + MO1-bbs4	standard conditions	Wang et al., 2011
AB/TU + MO2-plk4 + MO3-plk4	standard conditions	Martin et al., 2014
WT + MO1-cox5aa	standard conditions	Burkhalter et al., 2019
WT + MO1-dnai4	standard conditions	Zhang et al., 2018
WT + MO1-dynlt2b + MO4-tp53	standard conditions	Schmidts et al., 2015
WT + MO1-ift80	standard conditions	Beales et al., 2007
WT + MO1-mkks	control	Tobin et al., 2008
WT + MO1-tekt1	standard conditions	Ryan et al., 2017
WT + MO1-tmem67	standard conditions	Adams et al., 2012
WT + MO1-vangl2	standard conditions	Leightner et al., 2013
WT + MO2-dnai4	standard conditions	Zhang et al., 2018
WT + MO2-mks1	control	Tobin et al., 2008
WT + MO2-tmem67	standard conditions	Leightner et al., 2013
WT + MO3-invs	control	Tobin et al., 2008
WT + MO3-tmem67	standard conditions	Leightner et al., 2013
WT + MO3-ttc8	control	Tobin et al., 2008
WT + MO4-cep290	control	Tobin et al., 2008
WT + TALEN1-cc2d1a	standard conditions	Ma et al., 2020
cc2d1a^phk1/+	standard conditions	Ma et al., 2020
WT + MO1-tmem237a + MO1-tmem237b	standard conditions	Huang et al., 2011

PHENOTYPE No data available

CITATIONS (42)