Human Phenotype Ontology 
Grandparent Node:
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Abnormal 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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Giant cell tumor of bone (HP:0011847)help
Term ID: 11847
Name: Giant cell tumor of bone
Synonym: Giant cell tumour of bone
Definition: A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
Comments:
Reference: HP:0011847
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
..expandOsteoblastoma (HP:0011846) help
..expandOsteochondroma (HP:0030431) help
..expandOsteoma (HP:0100246) help
..expandOsteosarcoma (HP:0002669) 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:0011847HP:0011847Giant cell tumor of bone0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20


Genes (1) :PORCN

Diseases (1) :ORPHA:2092
 

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