Human Phenotype Ontology 
Grandparent Node:
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Neoplasm by histology (HP:0011792)help
Parent Node:
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Sarcoma (HP:0100242)help
..Starting node
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Soft tissue sarcoma (HP:0030448)help
Term ID: 30448
Name: Soft tissue sarcoma
Synonym: Soft tissue sarcomas
Definition: A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.
Comments:
Reference: HP:0030448
Genes and Diseases:
 
       Child Nodes:
........expandRhabdomyosarcoma (HP:0002859) help
................... HP:0006743 Embryonal rhabdomyosarcoma
................... HP:0006779 Alveolar rhabdomyosarcoma
................... HP:0500092 Orbital rhabdomyosarcoma
........expandFibroma (HP:0010614) help
................... HP:0000169 Gingival fibromatosis
................... HP:0001067 Neurofibromas
................... HP:0009724 Subungual fibromas
................... HP:0010615 Angiofibromas
................... HP:0010616 Lung fibroma
................... HP:0010617 Cardiac fibroma
................... HP:0010618 Ovarian fibroma
................... HP:0010619 Fibroadenoma of the breast
................... HP:0030426 Ossifying fibroma
................... HP:0100245 Desmoid tumors
................... HP:0100804 Ungual fibroma
........expandAlveolar soft part sarcoma (HP:0012218) help
........expandSynovial sarcoma (HP:0012570) help
........expandLeiomyosarcoma (HP:0100243) help
................... HP:0002891 Uterine leiomyosarcoma
................... HP:0006755 Cutaneous leiomyosarcoma
........expandFibrosarcoma (HP:0100244) help
................... HP:0100245 Desmoid tumors
........expandNeurofibrosarcoma (HP:0100697) help
........expandAngiosarcoma (HP:0200058) help
................... HP:0200059 Metastatic angiosarcoma

 Sister Nodes: 
..expandChondrosarcoma (HP:0006765) help
..expandEwing sarcoma (HP:0012254) help
..expandOsteosarcoma (HP:0002669) help
..expandRenal sarcoma (HP:0008663) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030448HP:0030448Soft tissue sarcoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0030448Soft tissue sarcoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0012218Alveolar soft part sarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100243Leiomyosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0012570Synovial sarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0002859Rhabdomyosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0200058Angiosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0100244Fibrosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0100697Neurofibrosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010614Fibroma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0002859Rhabdomyosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0200058Angiosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100244Fibrosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100697Neurofibrosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010614Fibroma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0012218Alveolar soft part sarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0100243Leiomyosarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0012570Synovial sarcoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0000169Gingival fibromatosis2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0006755Cutaneous leiomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0006779Alveolar rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010619Fibroadenoma of the breast2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0200059Metastatic angiosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0500092Orbital rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010618Ovarian fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010615Angiofibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100804Ungual fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0030426Ossifying fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0009724Subungual fibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0001067Neurofibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006743Embryonal rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010617Cardiac fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010616Lung fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0100245Desmoid tumors2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0002891Uterine leiomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0009724Subungual fibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0001067Neurofibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0006743Embryonal rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010617Cardiac fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0010616Lung fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100245Desmoid tumors2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0002891Uterine leiomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0030426Ossifying fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0000169Gingival fibromatosis2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006755Cutaneous leiomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006779Alveolar rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010619Fibroadenoma of the breast2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0200059Metastatic angiosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0500092Orbital rhabdomyosarcoma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010618Ovarian fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0010615Angiofibromas2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0100804Ungual fibroma2TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0007524Atypical neurofibromatosis3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0005220Multiple intestinal neurofibromatosis3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0006751Paraspinal neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0030427Ossifying fibroma of the jaw3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0009735Spinal neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100698Subcutaneous neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0009720Adenoma sebaceum3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0007576Palmar neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0009595Occasional neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0009732Plexiform neurofibroma3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0007576Palmar neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0009595Occasional neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0009732Plexiform neurofibroma3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0009720Adenoma sebaceum3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
HP:0030448HP:0100698Subcutaneous neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0007524Atypical neurofibromatosis3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0005220Multiple intestinal neurofibromatosis3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006751Paraspinal neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0030427Ossifying fibroma of the jaw3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0009735Spinal neurofibromas3TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006851Symmetric spinal nerve root neurofibromas4TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1246411998191170
HP:0030448HP:0006851Symmetric spinal nerve root neurofibromas4TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM1228011998191170
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (81) :ABCA5 AKT1 ANTXR2 APC ASPSCR1 ATP6V1B2 AXIN2 BRAF BUB1 BUB1B BUB3 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CEP57 COL1A1 CTNNB1 DCC DHCR24 DICER1 DLC1 ELMO2 EP300 FAM20C FGFR3 FH FLCN FLNA FOXC2 FOXO1 HRAS KCNH1 KEAP1 KIT KLLN KRAS KRT17 MAP2K1 MC1R MEN1 MLH1 MSH2 MSH6 MTAP NBN NF1 NF2 NOTCH3 NRAS PAX3 PAX7 PDGFB PDGFRA PDGFRB PIK3CA PLCD1 PMS2 PRKAR1A PRLR PTCH1 PTCH2 PTEN PTPN11 REST SDHB SDHC SDHD SEC23B SLC22A18 SOS1 SPRED1 SRC SSX1 SSX2 SUFU TP53 TRIP13 TSC1 TSC2

Diseases (74) :151623 606243 163950 1052 257300 99880 143 31112 601200 300244 33001 218040 626 276300 112250 647 251260 162200 228550 77301 300813 135400 2026 114500 615109 2028 228600 247806 261584 79665 873 135290 175100 3473 652 276152 602398 276399 180295 3019 1832 523 150800 135150 268220 135500 606764 193520 2591 615108 1359 615554 109400 65285 158350 2024 268210 135300 611431 538 805 191100 613254 201 2612 841 131100 587 158320 601321 637 101000 2387 162210
 

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