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 eye physiology (HP:0012373)

Parent Node:
Abnormality of eye movement (HP:0000496)

..Starting node
..Abnormal conjugate eye movement (HP:0000549)

Term ID:

549

Name:

Abnormal conjugate eye movement

Synonym:

Disconjugate eye movements

Definition:

Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.

Comments:

Reference:

HP:0000549

Genes and Diseases:

Child Nodes:

........

Strabismus (HP:0000486)

................... HP:0000487 Congenital strabismus
................... HP:0010877 Unilateral strabismus
................... HP:0020045 Esodeviation
................... HP:0020049 Exodeviation
................... HP:0025068 Incomitant strabismus
................... HP:0025069 Concomitant strabismus
................... HP:0025587 Hyperdeviation
................... HP:0025588 Hypodeviation
................... HP:0025589 Cyclodeviation
................... HP:0031724 Microtropia
................... HP:0031775 Neurogenic strabismus

........

Supranuclear gaze palsy (HP:0000605)

................... HP:0000511 Vertical supranuclear gaze palsy
................... HP:0007817 Horizontal supranuclear gaze palsy

........

Impaired convergence (HP:0000619)

Sister Nodes:

Abnormal involuntary eye movements (HP:0012547)

Abnormal ocular alignment (HP:0500073)

Abnormal saccadic eye movements (HP:0000570)

Abnormal visual fixation (HP:0025404)

Abnormality of ocular abduction (HP:0011347)

Abnormality of ocular smooth pursuit (HP:0000617)

Compensatory head posture (HP:0031705)

Impaired ocular adduction (HP:0000542)

Limited extraocular movements (HP:0007941)

Marcus Gunn jaw winking synkinesis (HP:0025186)

Oculomotor apraxia (HP:0000657)

Ophthalmoparesis (HP:0000597)

Visual gaze preference (HP:0025518)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000549	HP:0000549	Abnormal conjugate eye movement	0	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000549	Abnormal conjugate eye movement	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000549	Abnormal conjugate eye movement	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000486	Strabismus	1	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000605	Supranuclear gaze palsy	1	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000619	Impaired convergence	1	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000486	Strabismus	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000619	Impaired convergence	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000605	Supranuclear gaze palsy	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000486	Strabismus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000605	Supranuclear gaze palsy	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000619	Impaired convergence	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031775	Neurogenic strabismus	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025068	Incomitant strabismus	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025589	Cyclodeviation	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020049	Exodeviation	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020045	Esodeviation	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000511	Vertical supranuclear gaze palsy	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025588	Hypodeviation	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025069	Concomitant strabismus	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0010877	Monocular strabismus	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0032012	Heterotropia	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0007817	Horizontal supranuclear gaze palsy	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025587	Hyperdeviation	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0032011	Heterophoria	2	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025068	Incomitant strabismus	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025589	Cyclodeviation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031775	Neurogenic strabismus	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025588	Hypodeviation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025069	Concomitant strabismus	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0010877	Monocular strabismus	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020049	Exodeviation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020045	Esodeviation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000511	Vertical supranuclear gaze palsy	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0032012	Heterotropia	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0007817	Horizontal supranuclear gaze palsy	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025587	Hyperdeviation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0032011	Heterophoria	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0032012	Heterotropia	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0007817	Horizontal supranuclear gaze palsy	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025587	Hyperdeviation	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0032011	Heterophoria	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025589	Cyclodeviation	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031775	Neurogenic strabismus	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025068	Incomitant strabismus	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025069	Concomitant strabismus	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0010877	Monocular strabismus	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020049	Exodeviation	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020045	Esodeviation	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000511	Vertical supranuclear gaze palsy	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025588	Hypodeviation	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031776	Cyclotropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025313	Exophoria	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025312	Esophoria	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025330	Downgaze palsy	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0009921	Duane anomaly	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031725	Hypophoria	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025586	Hypertropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031724	Microtropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020041	Double elevator palsy	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020042	Double depressor palsy	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025585	Hyperphoria	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020043	Vertical incomitant strabismus	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000577	Exotropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025584	Hypotropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0000565	Esotropia	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0025331	Upgaze palsy	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031622	Brown anomaly	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031777	Cyclophoria	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020044	Horizontal incomitant strabismus	3	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0009921	Duane anomaly	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031725	Hypophoria	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031776	Cyclotropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025313	Exophoria	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025312	Esophoria	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025330	Downgaze palsy	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020041	Double elevator palsy	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025586	Hypertropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031724	Microtropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020042	Double depressor palsy	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025585	Hyperphoria	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020043	Vertical incomitant strabismus	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031622	Brown anomaly	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031777	Cyclophoria	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020044	Horizontal incomitant strabismus	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000577	Exotropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025584	Hypotropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0000565	Esotropia	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025331	Upgaze palsy	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0025585	Hyperphoria	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020043	Vertical incomitant strabismus	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020042	Double depressor palsy	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031777	Cyclophoria	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020044	Horizontal incomitant strabismus	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000577	Exotropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025584	Hypotropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0000565	Esotropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025331	Upgaze palsy	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031622	Brown anomaly	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0009921	Duane anomaly	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031725	Hypophoria	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031776	Cyclotropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025313	Exophoria	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025312	Esophoria	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025330	Downgaze palsy	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020041	Double elevator palsy	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0025586	Hypertropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031724	Microtropia	3	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0500076	Alternating hypertropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031713	Constant exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031781	Microtropia with identity	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031714	Distance exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031760	Non-accomodative esotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031721	Sensory exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031718	Consecutive exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031716	Cyclic exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031767	Consecutive esotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031715	Near exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0500077	Alternating hyperphoria	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031778	Incyclophoria	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031723	Secondary esotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031726	Incyclotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031717	Alternating exotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0500078	Alternating hypotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0020046	Accommodative esotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0001137	Alternating esotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031779	Excyclophoria	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0500079	Alternating hypophoria	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031727	Excyclotropia	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031782	Microtropia without identity	4	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031714	Distance exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031760	Non-accomodative esotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031721	Sensory exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0500076	Alternating hypertropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031713	Constant exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031781	Microtropia with identity	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031767	Consecutive esotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031715	Near exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0500077	Alternating hyperphoria	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031778	Incyclophoria	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031718	Consecutive exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031716	Cyclic exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0001137	Alternating esotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031779	Excyclophoria	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031723	Secondary esotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031726	Incyclotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031717	Alternating exotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0500078	Alternating hypotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0020046	Accommodative esotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0500079	Alternating hypophoria	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031727	Excyclotropia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031782	Microtropia without identity	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031779	Excyclophoria	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031723	Secondary esotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031726	Incyclotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031717	Alternating exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0500078	Alternating hypotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0020046	Accommodative esotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0001137	Alternating esotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0500079	Alternating hypophoria	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031727	Excyclotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031782	Microtropia without identity	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0500076	Alternating hypertropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031713	Constant exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031781	Microtropia with identity	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031714	Distance exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031760	Non-accomodative esotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031721	Sensory exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0500077	Alternating hyperphoria	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031778	Incyclophoria	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031718	Consecutive exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031716	Cyclic exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031767	Consecutive esotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031715	Near exotropia	4	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031764	Fully accomodative esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031761	Infantile constant esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031766	Convergence excess esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031762	Distance esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0032009	Infantile constant exotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031719	True distance exotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031763	Cyclic esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0032010	Basic constant exotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031765	Partially accomodative esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031720	Simulated distance exotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031759	Basic constant esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031722	Near esotropia	5	DAB1 CL E G H	1600	363710				ORPHA	1	107	2661	603448
HP:0000549	HP:0031761	Infantile constant esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031764	Fully accomodative esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031762	Distance esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031766	Convergence excess esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031719	True distance exotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031763	Cyclic esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0032009	Infantile constant exotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031765	Partially accomodative esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031720	Simulated distance exotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031759	Basic constant esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031722	Near esotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0032010	Basic constant exotropia	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0000549	HP:0031763	Cyclic esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0032009	Infantile constant exotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031719	True distance exotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031722	Near esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0032010	Basic constant exotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031765	Partially accomodative esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031720	Simulated distance exotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031759	Basic constant esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031761	Infantile constant esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031764	Fully accomodative esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031762	Distance esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000549	HP:0031766	Convergence excess esotropia	5	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (750) :A2ML1 ABCB7 ABCC8 ABHD5 ACADSB ACO2 ACOX1 ACOX2 ACSL4 ADAT3 ADD3 ADGRG1 ADNP ADPRHL2 ADSL AGK AGRN AGTPBP1 AHCY AHDC1 AHI1 AKT1 ALDH18A1 ALDH7A1 ALG11 ALG3 ALG6 ALG9 ALX3 ALX4 AMMECR1 ANKRD11 ANTXR1 AP1S2 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARVCF ARX ASCL1 ASXL1 ASXL3 ATAD3A ATF6 ATM ATOH7 ATP13A2 ATP2B3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP8A2 ATR ATRX ATXN1 AUTS2 B3GALNT2 B3GAT3 B9D1 BAZ1B BBS1 BCAP31 BCL11A BCOR BCS1L BEST1 BLOC1S3 BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 C12ORF65 C9ORF72 CA8 CABP4 CACNA1A CACNA1F CACNA1G CACNA2D4 CAMK2A CAMK2B CAMTA1 CASK CC2D2A CCDC174 CCDC88C CCNQ CD96 CDC42 CDC45 CDCA7 CDH11 CDH3 CDK13 CDON CEP104 CEP120 CEP152 CEP290 CEP41 CEP83 CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHMP1A CHN1 CHRNA7 CHRNE CHRNG CHST14 CHST3 CLCN4 CLDN16 CLDN19 CLIP2 CLP1 CNGA3 CNGB3 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COMT COQ8A COX10 COX15 CPLANE1 CPLX1 CRB1 CREBBP CRYAA CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CYB5R3 CYP1B1 DAB1 DACT1 DCN DCTN1 DDB2 DDHD2 DDOST DEAF1 DGUOK DHCR24 DHCR7 DHODH DHX30 DISP1 DKC1 DLG3 DLL1 DLL4 DMPK DNM1L DOCK6 DPAGT1 DPF2 DPM1 DPM2 DPP6 DVL1 DVL3 DYNC2LI1 EBF3 ECHS1 EFNB1 EIF2S3 ELN ELOVL4 EMC1 EOGT EP300 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD EVC EVC2 EXOSC2 EXOSC3 EXT2 EZH2 FA2H FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXO11 FGD1 FGF14 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FKRP FKTN FLI1 FLII FLNA FMR1 FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRMD4A FRMPD4 FUS FZD2 GABRD GAS1 GATA4 GATAD2B GBA GDF5 GFPT1 GGCX GJA1 GJB6 GJC2 GK GLI1 GLI2 GLRB GLRX5 GMNN GMPPA GMPPB GNAQ GNAS GNAT1 GNAT2 GNB1 GNB3 GP1BB GPR143 GPR179 GRIA4 GRID2 GRIN1 GRK1 GRM1 GRM6 GTF2E2 GTF2I GTF2IRD1 HACE1 HADHA HDAC8 HECW2 HERC2 HESX1 HHAT HIBCH HIRA HIST1H1E HMGB3 HNRNPU HOXA13 HOXB1 HPS5 HPS6 HRAS HSD17B4 HSPD1 HSPG2 HYLS1 IGF1R IKBKG INPP5E INPP5K IPW IQSEC2 IRF2BPL JAG1 JMJD1C KANSL1 KAT6A KAT6B KCNAB2 KCNC3 KCNE5 KCNJ13 KCNMA1 KCNV2 KDM1A KDM5B KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF14 KIF21A KIF7 KLF13 KLHL7 KMT2A KMT2D KRAS KRT25 KRT71 KRT74 L1CAM L2HGDH LAGE3 LAMA1 LAMB2 LARGE1 LBR LEMD3 LETM1 LGI4 LIG4 LIMK1 LIPH LIPT1 LONP1 LPAR6 LRIT3 LRPPRC LYRM7 LYST LZTR1 MAB21L2 MAD2L2 MAFB MAGEL2 MAP2K1 MAP2K2 MAP3K7 MAPT MBD5 MC1R MCM3AP MCOLN1 MCTP2 MDH2 MED12 MED13L MED25 MEF2C MFRP MID2 MITF MKRN3 MKRN3-AS1 MKS1 MLXIPL MPDU1 MPDZ MRPS34 MTFMT MTOR MYF5 MYH3 MYO5A MYO9A NAGA NALCN NANS NAXE NBAS NDN NDP NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NELFA NEXMIF NFIX NGLY1 NHLRC2 NHS NIPBL NKX6-2 NODAL NOG NONO NOP56 NOTCH1 NPAP1 NPC1 NPC2 NPHP1 NR2F1 NRAS NRXN1 NSD1 NSD2 NSDHL NSUN2 NUBPL NXN NYX OCA2 OCRL OFD1 OPA1 OPHN1 ORC1 OSGEP OTX2 PACS1 PACS2 PAH PAK1 PALB2 PAX2 PAX3 PAX6 PBX1 PDE6B PDE6C PDE6D PDE6H PDHA1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHGDH PHIP PHOX2A PHOX2B PIBF1 PIEZO2 PIGL PIGN PIGT PIGY PIK3R5 PITX2 PITX3 PLA2G6 PLK4 PLPBP PLXND1 PMM2 PNPLA6 POGZ POLG POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 PORCN POU3F4 PPM1D PPP2R5D PQBP1 PRDM16 PRKAR1A PRMT7 PRNP PROKR2 PRSS12 PRSS56 PSMD12 PTCH1 PTCH2 PTEN PTPN11 PTRH2 PUF60 PURA PUS3 PWAR1 PWRN1 RAB11B RAB39B RAD21 RAD51 RAD51C RAF1 RAI1 RAP1A RAP1B RASA2 RBM8A RBPJ RECQL4 RERE RET REV3L RFC2 RFWD3 RHO RIT1 RMRP RNASEH1 RNF135 ROBO3 ROR2 RORA RPGR RPGRIP1L RPS19 RPS6KA3 RRAS RREB1 RRM2B RSPRY1 SAG SALL1 SALL2 SALL4 SATB2 SBF1 SCN8A SCO2 SDHA SEC23A SEC24C SEMA3E SETD2 SETD5 SETX SGPL1 SH2B1 SHANK3 SHH SHOC2 SHROOM4 SIL1 SIM1 SIN3A SIX3 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC19A3 SLC24A1 SLC25A1 SLC25A24 SLC25A4 SLC25A46 SLC2A1 SLC2A10 SLC38A8 SLC39A8 SLC45A2 SLC5A7 SLC6A19 SLC6A8 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAP25 SNIP1 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOS1 SOS2 SOST SOX11 SOX2 SOX3 SOX5 SPATA5 SPECC1L SPG7 SPTBN2 SQSTM1 SRCAP SSR4 STRADA SUCLA2 SUFU SURF1 SYNJ1 SYT1 SYT2 TACO1 TAF1 TARDBP TBC1D23 TBC1D24 TBK1 TBL1XR1 TBL2 TBX1 TBX15 TBX4 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENM3 TFAP2A TFAP2B TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TLK2 TMCO1 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM94 TMEM98 TRAF3IP1 TRAPPC11 TRAPPC6B TREX1 TRIM37 TRIP12 TRIT1 TRPM1 TSEN15 TTI2 TUBB2B TUBB3 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TWNK TYR TYRP1 UBA1 UBE2T UBE3A UBE3B UBR1 UFD1 UNC80 USP9X VAMP1 VCP VLDLR VPS13B WAC WARS2 WDR26 WDR73 WDR81 WHCR WNT5A XPA XPC XRCC2 YAP1 YARS2 YME1L1 YY1 ZBTB16 ZC4H2 ZDHHC9 ZEB2 ZIC1 ZIC2 ZNF423 ZSWIM6

Diseases (641) :363710 251880 300523 648 2802 240800 98907 275630 614559 2971 264470 86818 617008 615873 618170 103050 1369 212350 618276 220493 475 744 616603 219150 3006 613661 601110 603147 391474 228390 52022 2332 261250 230740 1568 608233 284804 280763 612936 821 974 617523 1465 135900 3157 567 2508 300004 99803 97297 605039 615485 100 208900 513436 606693 617225 314978 302500 357074 219200 1766 210600 615834 588 904 209900 369939 300475 617101 256000 193220 617755 115150 1340 84 617333 320375 615035 275872 105550 613227 610427 215 458803 618087 617798 617799 314647 614756 163937 300749 2318 1454 616816 211750 1308 617063 616910 1299 1897 617360 280200 617761 613823 615862 616579 254210 618205 138 233 199318 612001 605809 608931 2990 601776 300114 248250 248190 411493 560 1427 1571 607595 265050 139485 255241 194190 604219 615636 615502 48431 615075 250800 708 857 610048 910 320380 615033 614507 819 329314 35107 602398 818 270400 246 617804 305000 300850 273 614388 614219 618027 608799 615042 3107 289 617330 300148 194050 1955 133190 601675 133540 216400 207 611225 75857 615544 617763 614678 616682 277590 612319 227650 227645 227646 600901 2833 2462 618089 915 305400 98764 609307 90024 101600 794 87 83 101200 1540 123500 101400 93262 35098 602849 617107 253800 2308 309350 908 88632 110100 613670 466688 616819 300983 1606 251071 615074 77261 77260 230900 231005 608013 231000 3250 436274 2710 189 129500 320401 307030 616859 616835 615510 615351 3205 79443 488613 616973 54 614565 617864 617820 616756 199 617268 615516 1422 250620 617537 238769 2438 614074 614075 3071 218040 261515 612233 800 270450 464 308300 559 617404 309530 118450 610443 457193 616268 614186 610356 618109 85279 300534 2322 147920 300867 617822 617914 200990 605130 3339 170 2182 303350 236792 615960 614199 169400 1306 280 235 1458 615058 220111 214500 615877 615280 157800 601104 79432 618124 578 252650 1596 617339 305450 616789 616449 228384 35612 300928 103470 609180 615219 614947 616638 2053 193700 33445 79281 79279 609241 615419 610442 617186 614800 190 300952 618226 252010 618225 617201 614753 615273 618278 627 122470 527497 186500 300967 220497 615722 614325 117550 300831 611091 618242 1507 203200 534 125250 1215 165500 137831 300486 224690 617729 615009 618067 2209 1475 894 2253 35737 604229 617641 44 617991 248700 3474 615398 616809 64753 180500 199351 256600 612953 2518 570 2377 616364 861 613151 253280 613156 2092 305600 1435 617450 616355 309500 101800 617157 282166 123400 249500 617516 377 77301 109400 151100 616158 617051 617807 2379 274000 218600 268400 616975 175 137634 105650 192 616723 959 607323 2307 147750 251019 615284 615761 606002 617575 261197 48652 606232 607721 300434 248800 171829 94065 613406 182212 1496 2963 71277 3342 616721 79435 2116 85278 300243 139210 614501 617140 616803 616577 1519 145410 99013 352403 2044 136140 370927 300934 611087 612073 615530 618218 300966 79500 602342 93333 261279 615314 2896 610954 154500 1297 113620 46627 169100 121900 608470 618050 1394 213980 612989 614424 613550 618316 616629 369847 615356 617862 225750 253250 617752 613216 617026 615541 614039 180750 1807 79434 203100 79433 203290 1145 105830 2707 244450 243800 300968 251282 108600 224050 193 616708 617616 251300 610185 1473 613561 617302 617557 612447 3454 300799 235730 616602 617308 306674 423275 211380 168605 614153 257220 607625 618158 447896 2744 607313 617145 610006 615286 606854 98914 88618 615829 608776 300990 100300 300215 496790 617183 49382 221900 314632 309580 98755 245600 300166 614077 617106 300707 616737 614961 604356 615803 154780 75840 175780 2754 277170 172870 180849 397715 300536 608093 304110 616875 154700 616482 614619 616204 324262 614831 616943 464282 5 176270 300915 614744 618088 98768 79137 616728 521390 617296 135700 301006 617468 615838 615547 156200 617664 618155 85277 300912 202370 79351 602078 108145 280633 212065 70595 616263 508488 329336 618060 107480 216820 614306 521411 607812 604369 616505 300352 613795 613671 500150 269500 313892 617695 188400 615145 615582 609192 610168 608091 2752 602152 369840 617873 300570 600638 616801 617710 314580 617865 611182 2514 609218

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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