Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm by histology (HP:0011792)help
Parent Node:
expand
Neoplasm of the skeletal system (HP:0010622)help
Parent Node:
expand
Sarcoma (HP:0100242)help
..Starting node
..expand
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 leukemiaC0023462ORPHA12431787600160
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H11200259500Osteosarcoma259500C0029463OMIM121316627604373
HP:0002669HP:0002669Osteosarcoma0LMNA CL E G H400079474ORPHA15746636150330
HP:0002669HP:0002669Osteosarcoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0002669HP:0002669Osteosarcoma0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM127413156540
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925259500Osteosarcoma259500C0029463OMIM111139884614041
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM111139884614041
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401221016ORPHA11229949603780
HP:0002669HP:0002669Osteosarcoma0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117510402603474
HP:0002669HP:0002669Osteosarcoma0SQSTM1 CL E G H8878167250Paget disease of bone, familial167250C4085252OMIM19811280601530
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM154111998191170
HP:0002669HP:0002669Osteosarcoma0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM111512791604611
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94011225ORPHA01229949603780
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM01229949603780


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

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

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.