Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Stooped posture (HP:0025403)help
Term ID: 25403
Name: Stooped posture
Synonym:
Definition: A habitual positioning of the body with the head and upper back bent forward.
Comments:
Reference: HP:0025403
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..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
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0025403HP:0025403Stooped posture0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM116782188120320
HP:0025403HP:0025403Stooped posture0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM113672188120320
HP:0025403HP:0025403Stooped posture0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM110310935193001
HP:0025403HP:0025403Stooped posture0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM18010935193001
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025403HP:0025403Stooped posture0ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0025403HP:0025403Stooped posture0ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0025403HP:0025403Stooped posture0POLG CL E G H5428254886ORPHA017129179174763
HP:0025403HP:0025403Stooped posture0POLG CL E G H5428254886ORPHA014709179174763
HP:0025403HP:0025403Stooped posture0TK2 CL E G H7084254886ORPHA029911831188250
HP:0025403HP:0025403Stooped posture0TK2 CL E G H7084254886ORPHA023011831188250


Genes (5) :ATP13A2 COL12A1 POLG SLC18A2 TK2

Diseases (4) :306674 616471 254886 618049
 

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