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
..Reduced use of typical gestures (HP:4000081)

Term ID:

4000081

Name:

Reduced use of typical gestures

Synonym:

Definition:

A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes.

Comments:

Reference:

HP:4000081

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:4000081	HP:4000081	Reduced use of typical gestures	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18	72

Genes (1) :CHD8

Diseases (1) :OMIM:615032

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