Human Phenotype Ontology 
..Starting node
..expandAbnormal gesture use (HP:4000090)help
Term ID: 4000090
Name: Abnormal gesture use
Synonym: Abnormal communicative gesture use; Abnormal communicative gestures; Abnormal gestures
Definition: Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication.
Comments:
Reference: HP:4000090
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:4000090HP:4000090Abnormal gesture use0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:4000090HP:4000090Abnormal gesture use0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:4000090HP:0034481Atypical gestures1 CL E G H
HP:4000090HP:4000081Reduced use of typical gestures1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:4000090HP:4000076Hand-leading gestures1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512


Genes (2) :CHD8 KMT5B

Diseases (2) :OMIM:615032 OMIM:617788
 

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