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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002669HP:0002669Osteosarcoma0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002669HP:0002669Osteosarcoma0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0002669HP:0002669Osteosarcoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0002669HP:0002669Osteosarcoma0CHEK2 CL E G H1120016627OMIM:259500Osteosarcoma.833
HP:0002669HP:0002669Osteosarcoma0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0002669HP:0002669Osteosarcoma0HEATR3 CL E G H5502726087OMIM:620072
HP:0002669HP:0002669Osteosarcoma0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0002669HP:0002669Osteosarcoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0002669HP:0002669Osteosarcoma0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.85
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H59259884OMIM:259500Osteosarcoma.365
HP:0002669HP:0002669Osteosarcoma0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0002669HP:0002669Osteosarcoma0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0002669HP:0002669Osteosarcoma0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002669HP:0002669Osteosarcoma0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002669HP:0002669Osteosarcoma0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002669HP:0002669Osteosarcoma0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002669HP:0002669Osteosarcoma0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002669HP:0002669Osteosarcoma0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002669HP:0002669Osteosarcoma0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002669HP:0002669Osteosarcoma0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0002669HP:0002669Osteosarcoma0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0002669HP:0002669Osteosarcoma0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0002669HP:0002669Osteosarcoma0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002669HP:0002669Osteosarcoma0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0002669HP:0002669Osteosarcoma0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0002669HP:0002669Osteosarcoma0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0002669HP:0002669Osteosarcoma0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002669HP:0002669Osteosarcoma0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002669HP:0002669Osteosarcoma0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0002669HP:0002669Osteosarcoma0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002669HP:0002669Osteosarcoma0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002669HP:0002669Osteosarcoma0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002669HP:0002669Osteosarcoma0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0002669HP:0002669Osteosarcoma0SQSTM1 CL E G H887811280OMIM:167250Paget disease of bone 3.62
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H715711998OMIM:259500Osteosarcoma.911
HP:0002669HP:0002669Osteosarcoma0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus911
HP:0002669HP:0002669Osteosarcoma0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002669HP:0002669Osteosarcoma0WRN CL E G H748612791OMIM:277700Werner syndrome.310


Genes (35) :ADA2 ANAPC1 CDKN2A CHEK2 GATA1 HEATR3 LMNA MDM2 MTAP RB1 RECQL4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SQSTM1 TP53 TSR2 WRN

Diseases (16) :ORPHA:124 ORPHA:221008 ORPHA:524 OMIM:259500 OMIM:620072 ORPHA:79474 OMIM:112250 OMIM:180200 ORPHA:1225 ORPHA:221016 OMIM:268400 OMIM:105650 OMIM:167250 OMIM:151623 OMIM:260500 OMIM:277700
 

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