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:
Abnormality of the spinocerebellar tracts (HP:0003133)

Parent Node:
Spinocerebellar tract degeneration (HP:0002503)

..Starting node
..Late-onset spinocerebellar degeneration (HP:0006904)

Term ID:

6904

Name:

Late-onset spinocerebellar degeneration

Synonym:

Definition:

Comments:

Reference:

HP:0006904

Genes and Diseases:

Child Nodes:

Sister Nodes:

Spinocerebellar tract disease in lower limbs (HP:0007232)

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:0006904	HP:0006904	Late-onset spinocerebellar degeneration	0	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto	.	2

Genes (1) :GCLC

Diseases (1) :OMIM:230450

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