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

..Starting node
..Heterophoria (HP:0032011)

Term ID:

32011

Name:

Heterophoria

Synonym:

Definition:

Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.

Comments:

Reference:

HP:0032011

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032011	HP:0032011	Heterophoria	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0032011	HP:0032011	Heterophoria	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0032011	HP:0032011	Heterophoria	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0032011	HP:0032011	Heterophoria	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0032011	HP:0032011	Heterophoria	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0032011	HP:0032011	Heterophoria	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0032011	HP:0032011	Heterophoria	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0032011	HP:0032011	Heterophoria	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0032011	HP:0032011	Heterophoria	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0032011	HP:0032011	Heterophoria	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0032011	HP:0032011	Heterophoria	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18		27
HP:0032011	HP:0031777	Cyclophoria	1	CL E G H
HP:0032011	HP:0031725	Hypophoria	1	CL E G H
HP:0032011	HP:0025585	Hyperphoria	1	CL E G H
HP:0032011	HP:0025313	Exophoria	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0032011	HP:0025313	Exophoria	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0032011	HP:0025313	Exophoria	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0032011	HP:0025313	Exophoria	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0032011	HP:0025312	Esophoria	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0032011	HP:0025312	Esophoria	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0032011	HP:0025312	Esophoria	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0032011	HP:0025312	Esophoria	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0032011	HP:0025312	Esophoria	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional	357
HP:0032011	HP:0025312	Esophoria	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0032011	HP:0025313	Exophoria	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional	27
HP:0032011	HP:0031779	Excyclophoria	2	CL E G H
HP:0032011	HP:0031778	Incyclophoria	2	CL E G H
HP:0032011	HP:0500079	Alternating hypophoria	2	CL E G H
HP:0032011	HP:0500077	Alternating hyperphoria	2	CL E G H

Genes (10) :AFF4 GJA5 GJA8 HACE1 HOXB1 KIDINS220 MECR SCN8A TBX1 TRAPPC11

Diseases (10) :ORPHA:444077 OMIM:612474 ORPHA:464282 OMIM:614744 ORPHA:521390 OMIM:617282 ORPHA:508093 OMIM:614306 OMIM:188400 ORPHA:369840

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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