Human Phenotype Ontology 
Grandparent Node:
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Neoplasm by histology (HP:0011792)help
Parent Node:
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Neoplasm of the skeletal system (HP:0010622)help
Parent Node:
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Sarcoma (HP:0100242)help
..Starting node
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Osteosarcoma (HP:0002669)help
Term ID: 2669
Name: Osteosarcoma
Synonym: Bone cell cancer; Osteogenic sarcoma
Definition: A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Comments:
Reference: HP:0002669
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChondrosarcoma (HP:0006765) help
..expandEwing sarcoma (HP:0012254) help
..expandRenal sarcoma (HP:0008663) help
..expandSoft tissue sarcoma (HP:0030448) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002669HP:0002669Osteosarcoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA110621787600160
HP:0002669HP:0002669Osteosarcoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA19711787600160
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1285116627604373
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA1259416627604373
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200259500Osteosarcoma259500C0029463OMIM1285116627604373
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200259500Osteosarcoma259500C0029463OMIM1259416627604373
HP:0002669HP:0002669Osteosarcoma0LMNA CL E G H400079474ORPHA114866636150330
HP:0002669HP:0002669Osteosarcoma0LMNA CL E G H400079474ORPHA113476636150330
HP:0002669HP:0002669Osteosarcoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1756973164785
HP:0002669HP:0002669Osteosarcoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA1496973164785
HP:0002669HP:0002669Osteosarcoma0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12357413156540
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925259500Osteosarcoma259500C0029463OMIM118839884614041
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925259500Osteosarcoma259500C0029463OMIM116439884614041
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM118839884614041
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM116439884614041
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401221016ORPHA132749949603780
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401221016ORPHA127519949603780
HP:0002669HP:0002669Osteosarcoma0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM111110402603474
HP:0002669HP:0002669Osteosarcoma0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM112310402603474
HP:0002669HP:0002669Osteosarcoma0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM147311280601530
HP:0002669HP:0002669Osteosarcoma0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM138311280601530
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1246411998191170
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA1228011998191170
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0002669HP:0002669Osteosarcoma0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1239112791604611
HP:0002669HP:0002669Osteosarcoma0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1194712791604611
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94011225ORPHA032749949603780
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94011225ORPHA027519949603780
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM032749949603780
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM027519949603780


Genes (11) :CDKN2A CHEK2 LMNA MDM2 MTAP RB1 RECQL4 RPS19 SQSTM1 TP53 WRN

Diseases (12) :524 259500 79474 112250 180200 221016 1225 268400 105650 167250 151623 277700
 

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