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

..Starting node
..Hand-leading gestures (HP:4000076)

Term ID:

4000076

Name:

Hand-leading gestures

Synonym:

Hand-taking gestures

Definition:

Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate.

Comments:

Reference:

HP:4000076

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:4000076	HP:4000076	Hand-leading gestures	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	2

Genes (1) :KMT5B

Diseases (1) :OMIM:617788

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