Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skeletal morphology (HP:0011842)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the skeletal system (HP:0010622)help
..Starting node
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Osteochondroma (HP:0030431)help
Term ID: 30431
Name: Osteochondroma
Synonym: Osteocartilaginous exostoses; Osteochondromas
Definition: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
Comments:
Reference: HP:0030431
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChondroblastoma (HP:0030432) help
..expandChondrosarcoma (HP:0006765) help
..expandChordoma (HP:0010762) help
..expandEnchondroma (HP:0030038) help
..expandExostoses (HP:0100777) help
..expandGiant cell tumor of bone (HP:0011847) help
..expandOsteoblastoma (HP:0011846) help
..expandOsteoma (HP:0100246) help
..expandOsteosarcoma (HP:0002669) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030431HP:0030431Osteochondroma0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15423690134934
HP:0030431HP:0030431Osteochondroma0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15413690134934
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030431HP:0030431Osteochondroma0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA06814319165240
HP:0030431HP:0030431Osteochondroma0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA06664319165240
HP:0030431HP:0030431Osteochondroma0PRKAR1A CL E G H55731359ORPHA07259388188830
HP:0030431HP:0030431Osteochondroma0PRKAR1A CL E G H55731359ORPHA06239388188830


Genes (3) :FGFR3 GLI3 PRKAR1A

Diseases (3) :610474 672 1359
 

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