Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Grandparent Node:
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Abnormal lower limb bone morphology (HP:0040069)help
Parent Node:
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Abnormality of the tarsal bones (HP:0001850)help
..Starting node
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Large tarsal bones (HP:0004679)help
Term ID: 4679
Name: Large tarsal bones
Synonym: Large ankle bones
Definition:
Comments:
Reference: HP:0004679
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal talus morphology (HP:0008365) help
..expandAbnormal tarsal bone mineral density (HP:0009132) help
..expandAbnormal tarsal ossification (HP:0008369) help
..expandAbnormality of the calcaneus (HP:0008364) help
..expandAbnormality of the os naviculare pedis (HP:0100339) help
..expandAplasia/Hypoplasia of the tarsal bones (HP:0008363) help
..expandDeformed tarsal bones (HP:0008119) help
..expandFlattening of the talar dome (HP:0008144) help
..expandIrregular tarsal bones (HP:0004688) help
..expandOsteolysis involving tarsal bones (HP:0006234) help
..expandTarsal synostosis (HP:0008368) 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:0004679HP:0004679Large tarsal bones0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222


Genes (1) :COL11A2

Diseases (1) :OMIM:215150
 

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