Ciliopathy

rare

A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

Subtypes

Disease	ID	Subtypes	Genes
Primary ciliary dyskinesia	MONDO:0016575	60
Joubert syndrome	MONDO:0018772	44
Jeune syndrome	MONDO:0018770	25
Bardet-Biedl syndrome	MONDO:0015229	22
Meckel syndrome	MONDO:0018921	14
Senior-Loken syndrome	MONDO:0017842	9
Retinal ciliopathy	MONDO:0022410	9
CEP290-related ciliopathy	MONDO:0100451	5	CEP290
CFAP418-related ciliopathy	MONDO:0700374	3	CFAP418
KIF7-related ciliopathy	MONDO:0800463	3	KIF7
MKS1-related ciliopathy	MONDO:1040068	3	MKS1
OFD1-related ciliopathy	MONDO:1040039	3	OFD1
ARL6-related ciliopathy	MONDO:1040065	2	ARL6
BBS2-related ciliopathy	MONDO:1040048	2	BBS2
IFT140-related recessive ciliopathy	MONDO:0100509	2
INTU-related skeletal ciliopathy	MONDO:1060154	2	INTU
MKKS-related ciliopathy	MONDO:1040050	2	MKKS
SDCCAG8-related ciliopathy	MONDO:0700379	2	SDCCAG8
TTC8-related ciliopathy	MONDO:1040049	2	TTC8
WDPCP-related ciliopathy	MONDO:0700378	2	WDPCP
Ciliopathy-IFT74	MONDO:1060191	2	IFT74
BBS1-related ciliopathy	MONDO:1040043	1	BBS1
BBS10-related ciliopathy	MONDO:0700237	1	BBS10
BBS12-related ciliopathy	MONDO:1040045	1	BBS12
BBS4-related ciliopathy	MONDO:1040044	1
BBS5-related ciliopathy	MONDO:1040047	1	BBS5
BBS7-related ciliopathy	MONDO:1040042	1	BBS7
BBS9-related ciliopathy	MONDO:0700236	1	BBS9
CEP164-related ciliopathy	MONDO:0700344	1	CEP164
LZTFL1-related ciliopathy	MONDO:1040046	1	LZTFL1
TUBB4B-related ciliopathy	MONDO:1060115	1	TUBB4B
Alsahan-Harris syndrome	MONDO:0979871		TBC1D32
Alstrom syndrome	MONDO:0008763		ALMS1
Marden-Walker syndrome	MONDO:0009564		PIEZO2
Nephronophthisis 1	MONDO:0009728		NPHP1
Oculocerebrodental syndrome	MONDO:0034145		PIK3C2A

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