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:
Ataxia (HP:0001251)

Parent Node:
Truncal ataxia (HP:0002078)

..Starting node
..Progressive truncal ataxia (HP:0007221)

Term ID:

7221

Name:

Progressive truncal ataxia

Synonym:

Definition:

Comments:

Reference:

HP:0007221

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007221	HP:0007221	Progressive truncal ataxia	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent	106
HP:0007221	HP:0007221	Progressive truncal ataxia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309

Genes (2) :KCTD7 SACS

Diseases (2) :ORPHA:263516 OMIM:270550

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