Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of movement (HP:0100022)help
..Starting node
..expand
Abnormal head movements (HP:0002457)help
Term ID: 2457
Name: Abnormal head movements
Synonym: Abnormal head movements
Definition:
Comments:
Reference: HP:0002457
Genes and Diseases:
 
       Child Nodes:
........expandHead titubation (HP:0002599) help
........expandJerky head movements (HP:0006961) help

 Sister Nodes: 
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002457HP:0002457Abnormal head movements0CACNA1A CL E G H77371518ORPHA120471388601011
HP:0002457HP:0002457Abnormal head movements0CACNA1A CL E G H77371518ORPHA123261388601011
HP:0002457HP:0002457Abnormal head movements0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0002457HP:0002457Abnormal head movements0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0002457HP:0002457Abnormal head movements0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002457HP:0002457Abnormal head movements0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002457HP:0002599Head titubation1CACNA1A CL E G H77371518ORPHA120471388601011
HP:0002457HP:0006961Jerky head movements1CACNA1A CL E G H77371518ORPHA123261388601011
HP:0002457HP:0006961Jerky head movements1CACNA1A CL E G H77371518ORPHA120471388601011
HP:0002457HP:0002599Head titubation1CACNA1A CL E G H77371518ORPHA123261388601011
HP:0002457HP:0002599Head titubation1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0002457HP:0006961Jerky head movements1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0002457HP:0006961Jerky head movements1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0002457HP:0002599Head titubation1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0002457HP:0006961Jerky head movements1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002457HP:0002599Head titubation1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002457HP:0002599Head titubation1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002457HP:0006961Jerky head movements1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002457HP:0002457Abnormal head movements0NAA10 CL E G H8260276432ORPHA033318704300013
HP:0002457HP:0002457Abnormal head movements0NAA10 CL E G H8260276432ORPHA034818704300013
HP:0002457HP:0002457Abnormal head movements0PEX10 CL E G H5192247815ORPHA05788851602859
HP:0002457HP:0002457Abnormal head movements0PEX10 CL E G H5192247815ORPHA04808851602859
HP:0002457HP:0002599Head titubation1NAA10 CL E G H8260276432ORPHA033318704300013
HP:0002457HP:0006961Jerky head movements1NAA10 CL E G H8260276432ORPHA034818704300013
HP:0002457HP:0006961Jerky head movements1NAA10 CL E G H8260276432ORPHA033318704300013
HP:0002457HP:0002599Head titubation1NAA10 CL E G H8260276432ORPHA034818704300013
HP:0002457HP:0006961Jerky head movements1PEX10 CL E G H5192247815ORPHA04808851602859
HP:0002457HP:0002599Head titubation1PEX10 CL E G H5192247815ORPHA05788851602859
HP:0002457HP:0002599Head titubation1PEX10 CL E G H5192247815ORPHA04808851602859
HP:0002457HP:0006961Jerky head movements1PEX10 CL E G H5192247815ORPHA05788851602859


Genes (13) :CACNA1A DLAT FMR1 GJC2 GPR88 KIF1C NAA10 NKX6-2 PEX10 PLP1 PRNP UCHL1 VAMP1

Diseases (13) :71518 300624 616939 276432 247815 245348 608804 611302 527497 312080 157941 615491 251282
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.