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:
Nystagmus (HP:0000639)

Parent Node:
Pendular nystagmus (HP:0012043)

..Starting node
..Spasmus nutans (HP:0010533)

Term ID:

10533

Name:

Spasmus nutans

Synonym:

Definition:

The combination of pendular nystagmus, head nodding, and torticollis.

Comments:

Reference:

HP:0010533

Genes and Diseases:

Child Nodes:

Sister Nodes:

Horizontal pendular nystagmus (HP:0007811)

Seesaw nystagmus (HP:0012044)

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:0010533	HP:0010533	Spasmus nutans	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B	1053

Genes (1) :SCN1A

Diseases (1) :OMIM:619317

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