Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
..Starting node
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Frog-leg posture (HP:0031139)help
Term ID: 31139
Name: Frog-leg posture
Synonym:
Definition: A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.
Comments:
Reference: HP:0031139
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandAxial hypotonia (HP:0008936) help
..expandFacial hypotonia (HP:0000297) help
..expandGeneralized hypotonia (HP:0001290) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) 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:0031139HP:0031139Frog-leg posture0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0031139HP:0031139Frog-leg posture0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0031139HP:0031139Frog-leg posture0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040283 - Occasional1200
HP:0031139HP:0031139Frog-leg posture0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200


Genes (3) :DLAT POLR2A RYR1

Diseases (4) :ORPHA:79244 OMIM:618603 ORPHA:324581 ORPHA:98905
 

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