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:
Inability to walk (HP:0002540)

Parent Node:
Loss of ambulation (HP:0002505)

..Starting node
..Inability to walk by childhood/adolescence (HP:0006915)

Term ID:

6915

Name:

Inability to walk by childhood/adolescence

Synonym:

Inability to walk by childhood/adolescence

Definition:

Comments:

Reference:

HP:0006915

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Loss of ability to walk in first decade (HP:0006794)

obsolete Loss of ability to walk (HP:0006957)

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:0006915	HP:0006915	Inability to walk by childhood/adolescence	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0006915	HP:0006915	Inability to walk by childhood/adolescence	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203

Genes (2) :GDAP1 MFN2

Diseases (2) :OMIM:214400 ORPHA:99947

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