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:
Abnormal pupillary function (HP:0007686)

..Starting node
..Miosis (HP:0000616)

Term ID:

616

Name:

Miosis

Synonym:

Constricted pupils; Pupillary constriction

Definition:

Abnormal (non-physiological) constriction of the pupil.

Comments:

Reference:

HP:0000616

Genes and Diseases:

Child Nodes:

........

Horner syndrome (HP:0002277)

................... HP:0006837 Congenital Horner syndrome

........

Congenital miosis (HP:0007728)

Sister Nodes:

Abnormal pupillary light reflex (HP:0007695)

Mydriasis (HP:0011499)

Tonic pupil (HP:0012074)

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:0000616	HP:0000616	Miosis	0	AP3D1 CL E G H	8943	284804				ORPHA	1	596	568	607246
HP:0000616	HP:0000616	Miosis	0	CHRDL1 CL E G H	91851	309300	Megalocornea	309300	C0344530	OMIM	1	200	29861	300350
HP:0000616	HP:0000616	Miosis	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	365	2719	107930
HP:0000616	HP:0000616	Miosis	0	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	78	18270	605743
HP:0000616	HP:0000616	Miosis	0	ORAI1 CL E G H	84876	3204				ORPHA	1	255	25896	610277
HP:0000616	HP:0000616	Miosis	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0000616	HP:0000616	Miosis	0	PEX7 CL E G H	5191	773				ORPHA	1	441	8860	601757
HP:0000616	HP:0000616	Miosis	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	441	8860	601757
HP:0000616	HP:0000616	Miosis	0	PHYH CL E G H	5264	773				ORPHA	1	303	8940	602026
HP:0000616	HP:0000616	Miosis	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	303	8940	602026
HP:0000616	HP:0000616	Miosis	0	SIX6 CL E G H	4990	212550	Cataract, microphthalmia and nystagmus	212550	C1859311	OMIM	1	78	10892	606326
HP:0000616	HP:0000616	Miosis	0	STIM1 CL E G H	6786	3204				ORPHA	1	522	11386	605921
HP:0000616	HP:0000616	Miosis	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	522	11386	605921
HP:0000616	HP:0002277	Horner syndrome	1	AP3D1 CL E G H	8943	284804				ORPHA	1	596	568	607246
HP:0000616	HP:0007728	Congenital miosis	1	AP3D1 CL E G H	8943	284804				ORPHA	1	596	568	607246
HP:0000616	HP:0002277	Horner syndrome	1	CHRDL1 CL E G H	91851	309300	Megalocornea	309300	C0344530	OMIM	1	200	29861	300350
HP:0000616	HP:0007728	Congenital miosis	1	CHRDL1 CL E G H	91851	309300	Megalocornea	309300	C0344530	OMIM	1	200	29861	300350
HP:0000616	HP:0002277	Horner syndrome	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	365	2719	107930
HP:0000616	HP:0007728	Congenital miosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	365	2719	107930
HP:0000616	HP:0002277	Horner syndrome	1	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	78	18270	605743
HP:0000616	HP:0007728	Congenital miosis	1	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	78	18270	605743
HP:0000616	HP:0002277	Horner syndrome	1	ORAI1 CL E G H	84876	3204				ORPHA	1	255	25896	610277
HP:0000616	HP:0007728	Congenital miosis	1	ORAI1 CL E G H	84876	3204				ORPHA	1	255	25896	610277
HP:0000616	HP:0002277	Horner syndrome	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0000616	HP:0007728	Congenital miosis	1	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0000616	HP:0002277	Horner syndrome	1	PEX7 CL E G H	5191	773				ORPHA	1	441	8860	601757
HP:0000616	HP:0007728	Congenital miosis	1	PEX7 CL E G H	5191	773				ORPHA	1	441	8860	601757
HP:0000616	HP:0002277	Horner syndrome	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	441	8860	601757
HP:0000616	HP:0007728	Congenital miosis	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	441	8860	601757
HP:0000616	HP:0002277	Horner syndrome	1	PHYH CL E G H	5264	773				ORPHA	1	303	8940	602026
HP:0000616	HP:0007728	Congenital miosis	1	PHYH CL E G H	5264	773				ORPHA	1	303	8940	602026
HP:0000616	HP:0002277	Horner syndrome	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	303	8940	602026
HP:0000616	HP:0007728	Congenital miosis	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	303	8940	602026
HP:0000616	HP:0002277	Horner syndrome	1	SIX6 CL E G H	4990	212550	Cataract, microphthalmia and nystagmus	212550	C1859311	OMIM	1	78	10892	606326
HP:0000616	HP:0007728	Congenital miosis	1	SIX6 CL E G H	4990	212550	Cataract, microphthalmia and nystagmus	212550	C1859311	OMIM	1	78	10892	606326
HP:0000616	HP:0002277	Horner syndrome	1	STIM1 CL E G H	6786	3204				ORPHA	1	522	11386	605921
HP:0000616	HP:0007728	Congenital miosis	1	STIM1 CL E G H	6786	3204				ORPHA	1	522	11386	605921
HP:0000616	HP:0002277	Horner syndrome	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	522	11386	605921
HP:0000616	HP:0007728	Congenital miosis	1	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	522	11386	605921
HP:0000616	HP:0006837	Congenital Horner syndrome	2	AP3D1 CL E G H	8943	284804				ORPHA	1	596	568	607246
HP:0000616	HP:0006837	Congenital Horner syndrome	2	CHRDL1 CL E G H	91851	309300	Megalocornea	309300	C0344530	OMIM	1	200	29861	300350
HP:0000616	HP:0006837	Congenital Horner syndrome	2	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	365	2719	107930
HP:0000616	HP:0006837	Congenital Horner syndrome	2	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	78	18270	605743
HP:0000616	HP:0006837	Congenital Horner syndrome	2	ORAI1 CL E G H	84876	3204				ORPHA	1	255	25896	610277
HP:0000616	HP:0006837	Congenital Horner syndrome	2	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0000616	HP:0006837	Congenital Horner syndrome	2	PEX7 CL E G H	5191	773				ORPHA	1	441	8860	601757
HP:0000616	HP:0006837	Congenital Horner syndrome	2	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	441	8860	601757
HP:0000616	HP:0006837	Congenital Horner syndrome	2	PHYH CL E G H	5264	773				ORPHA	1	303	8940	602026
HP:0000616	HP:0006837	Congenital Horner syndrome	2	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	303	8940	602026
HP:0000616	HP:0006837	Congenital Horner syndrome	2	SIX6 CL E G H	4990	212550	Cataract, microphthalmia and nystagmus	212550	C1859311	OMIM	1	78	10892	606326
HP:0000616	HP:0006837	Congenital Horner syndrome	2	STIM1 CL E G H	6786	3204				ORPHA	1	522	11386	605921
HP:0000616	HP:0006837	Congenital Horner syndrome	2	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	522	11386	605921
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (10) :AP3D1 CHRDL1 DDC HHAT NME1 ORAI1 PEX7 PHYH SIX6 STIM1

Diseases (11) :284804 309300 608643 1422 3204 615883 773 266500 212550 185070 256700

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

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