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
..Mydriasis (HP:0011499)

Term ID:

11499

Name:

Mydriasis

Synonym:

Dilated pupil

Definition:

Abnormal dilatation of the iris.

Comments:

Reference:

HP:0011499

Genes and Diseases:

Child Nodes:

........

Bilateral congenital mydriasis (HP:0007932)

Sister Nodes:

Abnormal pupillary light reflex (HP:0007695)

Miosis (HP:0000616)

Tonic pupil (HP:0012074)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011499	HP:0011499	Mydriasis	0	ACTA2 CL E G H	59	613834	Multisystemic smooth muscle dysfunction syndrome	613834	C3151201	OMIM	1	83	130	102620
HP:0011499	HP:0011499	Mydriasis	1	ACTA2 CL E G H	59	613834	Multisystemic smooth muscle dysfunction syndrome	613834	C3151201	OMIM	1	83	130	102620
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011499	HP:0011499	Mydriasis	0	BAP1 CL E G H	8314	39044				ORPHA	0	119	950	603089
HP:0011499	HP:0011499	Mydriasis	0	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	18274	605666
HP:0011499	HP:0011499	Mydriasis	0	GNA11 CL E G H	2767	39044				ORPHA	0	11	4379	139313
HP:0011499	HP:0011499	Mydriasis	0	GNAQ CL E G H	2776	39044				ORPHA	0	6	4390	600998
HP:0011499	HP:0011499	Mydriasis	0	PEX10 CL E G H	5192	247815				ORPHA	0	32	8851	602859
HP:0011499	HP:0011499	Mydriasis	0	SF3B1 CL E G H	23451	39044				ORPHA	0	4	10768	605590
HP:0011499	HP:0011499	Mydriasis	1	BAP1 CL E G H	8314	39044				ORPHA	0	119	950	603089
HP:0011499	HP:0011499	Mydriasis	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	18274	605666
HP:0011499	HP:0011499	Mydriasis	1	GNA11 CL E G H	2767	39044				ORPHA	0	11	4379	139313
HP:0011499	HP:0011499	Mydriasis	1	GNAQ CL E G H	2776	39044				ORPHA	0	6	4390	600998
HP:0011499	HP:0011499	Mydriasis	1	PEX10 CL E G H	5192	247815				ORPHA	0	32	8851	602859
HP:0011499	HP:0011499	Mydriasis	1	SF3B1 CL E G H	23451	39044				ORPHA	0	4	10768	605590

Genes (7) :ACTA2 BAP1 CYSLTR2 GNA11 GNAQ PEX10 SF3B1

Diseases (3) :613834 39044 247815

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.