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:
Loss of ambulation (HP:0002505)

Parent Node:
Inability to walk by childhood/adolescence (HP:0006915)

..Starting node
..Loss of ability to walk in early childhood (HP:0008945)

Term ID:

8945

Name:

Loss of ability to walk in early childhood

Synonym:

Definition:

Comments:

Reference:

HP:0008945

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:0008945	HP:0008945	Loss of ability to walk in early childhood	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0008945	HP:0008945	Loss of ability to walk in early childhood	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0008945	HP:0008945	Loss of ability to walk in early childhood	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103

Genes (3) :GLRX5 SUCLA2 TK2

Diseases (3) :ORPHA:401866 OMIM:612073 OMIM:609560

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