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:
Incoordination (HP:0002311)

Parent Node:
Poor coordination (HP:0002370)

..Starting node
..Poor hand-eye coordination (HP:0007057)

Term ID:

7057

Name:

Poor hand-eye coordination

Synonym:

Definition:

Comments:

Reference:

HP:0007057

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:0007057	HP:0007057	Poor hand-eye coordination	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0007057	HP:0007057	Poor hand-eye coordination	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122

Genes (2) :RNF168 SLC6A8

Diseases (2) :ORPHA:420741 OMIM:300352

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