Human Phenotype Ontology 
Grandparent Node:
expand
Constitutional symptom (HP:0025142)help
Parent Node:
expand
Pain (HP:0012531)help
..Starting node
..expand
Ankle pain (HP:0030840)help
Term ID: 30840
Name: Ankle pain
Synonym: Ankle pain
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
Comments:
Reference: HP:0030840
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal pain (HP:0002027) help
..expandAllodynia (HP:0012533) help
..expandAnal pain (HP:0500005) help
..expandArthralgia (HP:0002829) help
..expandBack pain (HP:0003418) help
..expandBone pain (HP:0002653) help
..expandChest pain (HP:0100749) help
..expandChronic pain (HP:0012532) help
..expandCostochondral pain (HP:0006649) help
..expandEar pain (HP:0030766) help
..expandElbow pain (HP:0030835) help
..expandEpigastric pain (HP:0410019) help
..expandFinger pain (HP:0030837) help
..expandFlank pain (HP:0030157) help
..expandFoot pain (HP:0025238) help
..expandGroin pain (HP:0031520) help
..expandHip pain (HP:0030838) help
..expandJaw pain (HP:0040264) help
..expandKnee pain (HP:0030839) help
..expandLimb pain (HP:0009763) help
..expandMandibular pain (HP:0200025) help
..expandMyalgia (HP:0003326) help
..expandNeck pain (HP:0030833) help
..expandOcular pain (HP:0200026) help
..expandScrotal pain (HP:0030155) help
..expandShoulder pain (HP:0030834) help
..expandToe pain (HP:0030841) help
..expandVulvodynia (HP:0030943) help
..expandWrist pain (HP:0030836) 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:0030840HP:0030840Ankle pain0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0030840HP:0030840Ankle pain0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 1HP:0040283 - Occasional89
HP:0030840HP:0030840Ankle pain0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0030840HP:0030840Ankle pain0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0030840HP:0030840Ankle pain0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0030840HP:0030840Ankle pain0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040283 - Occasional32


Genes (5) :COMP HYAL1 LEMD3 MAFB MATN3

Diseases (6) :OMIM:132400 ORPHA:93308 OMIM:601492 ORPHA:166119 OMIM:166300 ORPHA:93311
 

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