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:
Supranuclear gaze palsy (HP:0000605)

Parent Node:
Vertical supranuclear gaze palsy (HP:0000511)

..Starting node
..Downgaze palsy (HP:0025330)

Term ID:

25330

Name:

Downgaze palsy

Synonym:

Downgaze paresis; Supranuclear downgaze palsy

Definition:

A limitation of the ability to direct one's gaze below the horizontal meridian.

Comments:

Reference:

HP:0025330

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upgaze palsy (HP:0025331)

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:0025330	HP:0025330	Downgaze palsy	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12

Genes (1) :PIGT

Diseases (1) :ORPHA:369837

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