Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Nyctalopia (HP:0000662)

Parent Node:
Retinal dystrophy (HP:0000556)

..Starting node
..Congenital stationary night blindness (HP:0007642)

Term ID:

7642

Name:

Congenital stationary night blindness

Synonym:

Congenital night blindness; Night blindness since birth; Night blindness, congenital; Night blindness, congenital stationary; Night blindness, congenital stationary, complete; Night blindness, stationary; Static congenital hemeralopia

Definition:

A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.

Comments:

Reference:

HP:0007642

Genes and Diseases:

Child Nodes:

........

Congenital stationary night blindness with normal fundus (HP:0030638)

................... HP:0030640 Complete congenital stationary night blindness
................... HP:0030641 Incomplete congenital stationary night blindness

........

Congenital stationary night blindness with abnormal fundus (HP:0030639)

................... HP:0030642 Fundus albipunctatus

Sister Nodes:

Chorioretinal dystrophy (HP:0001135)

Cone/cone-rod dystrophy (HP:0000548)

Macular dystrophy (HP:0007754)

Pattern dystrophy of the retina (HP:0007963)

Retinal dystrophy with early macular involvement (HP:0030635)

Rod-cone dystrophy (HP:0000510)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007642	HP:0007642	Congenital stationary night blindness	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive		94
HP:0007642	HP:0007642	Congenital stationary night blindness	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness		94
HP:0007642	HP:0007642	Congenital stationary night blindness	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness		58
HP:0007642	HP:0007642	Congenital stationary night blindness	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.	58
HP:0007642	HP:0007642	Congenital stationary night blindness	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness		129
HP:0007642	HP:0007642	Congenital stationary night blindness	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness		39
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.	39
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G	.	39
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness		5
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness		124
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.	124
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness		4
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent	4
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2		4
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness		63
HP:0007642	HP:0007642	Congenital stationary night blindness	0	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.	63
HP:0007642	HP:0007642	Congenital stationary night blindness	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness		54
HP:0007642	HP:0007642	Congenital stationary night blindness	0	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F	.	54
HP:0007642	HP:0007642	Congenital stationary night blindness	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	HP:0040283 - Occasional	179
HP:0007642	HP:0007642	Congenital stationary night blindness	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness		42
HP:0007642	HP:0007642	Congenital stationary night blindness	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0007642	HP:0007642	Congenital stationary night blindness	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness		126
HP:0007642	HP:0007642	Congenital stationary night blindness	0	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2	.	126
HP:0007642	HP:0007642	Congenital stationary night blindness	0	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus		159
HP:0007642	HP:0007642	Congenital stationary night blindness	0	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus		32
HP:0007642	HP:0007642	Congenital stationary night blindness	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness		107
HP:0007642	HP:0007642	Congenital stationary night blindness	0	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus		107
HP:0007642	HP:0007642	Congenital stationary night blindness	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0007642	HP:0007642	Congenital stationary night blindness	0	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus		47
HP:0007642	HP:0007642	Congenital stationary night blindness	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness		32
HP:0007642	HP:0007642	Congenital stationary night blindness	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent	32
HP:0007642	HP:0007642	Congenital stationary night blindness	0	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1	.	32
HP:0007642	HP:0007642	Congenital stationary night blindness	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness		66
HP:0007642	HP:0007642	Congenital stationary night blindness	0	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.	66
HP:0007642	HP:0007642	Congenital stationary night blindness	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0007642	HP:0007642	Congenital stationary night blindness	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness		104
HP:0007642	HP:0007642	Congenital stationary night blindness	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C		104
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	94
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	94
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	58
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	58
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	129
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	129
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	39
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	39
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	5
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	5
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	124
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	124
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	4
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	4
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	63
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	63
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	54
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	54
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	42
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	42
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	126
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	126
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus		159
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus		32
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	107
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	107
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus		107
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus		47
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	32
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	32
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	66
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	66
HP:0007642	HP:0030639	Congenital stationary night blindness with abnormal fundus	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	104
HP:0007642	HP:0030638	Congenital stationary night blindness with normal fundus	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent	104
HP:0007642	HP:0030640	Complete congenital stationary night blindness	2	CL E G H
HP:0007642	HP:0030641	Incomplete congenital stationary night blindness	2	CL E G H
HP:0007642	HP:0030642	Fundus albipunctatus	2	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0007642	HP:0030642	Fundus albipunctatus	2	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0007642	HP:0030642	Fundus albipunctatus	2	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0007642	HP:0030642	Fundus albipunctatus	2	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47

Genes (21) :CABP4 CACNA1F CACNA2D4 FGFR2 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 MYO6 NYX PDE6B PRPH2 RDH5 RHO RLBP1 SAG SLC24A1 TRAPPC9 TRPM1

Diseases (20) :OMIM:610427 ORPHA:215 OMIM:300071 ORPHA:313855 OMIM:610444 OMIM:616389 OMIM:614565 ORPHA:75382 OMIM:613411 OMIM:257270 OMIM:615058 OMIM:607821 OMIM:310500 OMIM:163500 OMIM:136880 OMIM:610445 OMIM:258100 OMIM:613830 ORPHA:352530 OMIM:613216

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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