Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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

Term ID:

6794

Name:

Loss of ability to walk in first decade

Synonym:

Loss of ability to walk in first decade

Definition:

Comments:

Reference:

HP:0006794

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0006794	HP:0006794	Loss of ability to walk in first decade	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0006794	HP:0006794	Loss of ability to walk in first decade	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93

Genes (2) :MYOT SLC9A6

Diseases (2) :ORPHA:98911 OMIM:300243

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