Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Motor stereotypy (HP:0000733)help
..Starting node
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Tongue thrusting (HP:0100703)help
Term ID: 100703
Name: Tongue thrusting
Synonym: Tongue thrusting
Definition:
Comments:
Reference: HP:0100703
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEye poking (HP:0001483) help
..expandPunding (HP:0030218) help
..expandRecurrent hand flapping (HP:0100023) help
..expandRepetitive compulsive behavior (HP:0008762) help
..expandStereotypical body rocking (HP:0012172) help
..expandStereotypical hand wringing (HP:0012171) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100703HP:0100703Tongue thrusting0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0100703HP:0100703Tongue thrusting0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0100703HP:0100703Tongue thrusting0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0100703HP:0100703Tongue thrusting0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0100703HP:0100703Tongue thrusting0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0100703HP:0100703Tongue thrusting0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0100703HP:0100703Tongue thrusting0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0100703HP:0100703Tongue thrusting0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0100703HP:0100703Tongue thrusting0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0100703HP:0100703Tongue thrusting0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0100703HP:0100703Tongue thrusting0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0100703HP:0100703Tongue thrusting0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0100703HP:0100703Tongue thrusting0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0100703HP:0100703Tongue thrusting0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0100703HP:0100703Tongue thrusting0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0100703HP:0100703Tongue thrusting0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278


Genes (14) :BRAF CDKL5 DDC FOXG1 GABBR2 GLYCTK GRIK2 KIF15 MECP2 NTNG1 OCA2 SHANK3 SMC1A UBE3A

Diseases (11) :OMIM:115150 ORPHA:3095 OMIM:608643 OMIM:613454 OMIM:220120 OMIM:619580 ORPHA:261323 ORPHA:98794 OMIM:606232 ORPHA:411511 ORPHA:98795
 

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