Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the skeletal system (HP:0010622)help
Parent Node:
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Abnormal pelvis bone morphology (HP:0040163)help
Parent Node:
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Exostoses (HP:0100777)help
..Starting node
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Pelvic bone exostoses (HP:0003276)help
Term ID: 3276
Name: Pelvic bone exostoses
Synonym: Pelvic exostoses
Definition: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.
Comments:
Reference: HP:0003276
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandExostoses of hand bones (HP:0004276) help
..expandExostoses of the forearm bones (HP:0003960) help
..expandExostosis of the external auditory canal (HP:0004459) help
..expandMultiple exostoses (HP:0002762) help
..expandRib exostoses (HP:0000896) help
..expandScapular exostoses (HP:0000918) 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:0003276HP:0003276Pelvic bone exostoses0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0003276HP:0003276Pelvic bone exostoses0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0003276HP:0003276Pelvic bone exostoses0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102


Genes (3) :ATP7A EXT1 EXT2

Diseases (3) :OMIM:304150 OMIM:133700 OMIM:133701
 

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