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 pupillary function (HP:0007686)

Parent Node:
Miosis (HP:0000616)

..Starting node
..Congenital miosis (HP:0007728)

Term ID:

7728

Name:

Congenital miosis

Synonym:

Definition:

Abnormal (non-physiological) constriction of the pupil of congenital onset.

Comments:

Reference:

HP:0007728

Genes and Diseases:

Child Nodes:

Sister Nodes:

Horner syndrome (HP:0002277)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007728	HP:0007728	Congenital miosis	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis	3
HP:0007728	HP:0007728	Congenital miosis	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (2) :COL25A1 ZFHX4

Diseases (1) :ORPHA:91411

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