Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Neoplasm by histology (HP:0011792)help
..Starting node
..expand
Sarcoma (HP:0100242)help
Term ID: 100242
Name: Sarcoma
Synonym: Cancer of connective tissue; Malignant connective tissue tumor; Malignant connective tissue tumour
Definition: A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Comments:
Reference: HP:0100242
Genes and Diseases:
 
       Child Nodes:
........expandOsteosarcoma (HP:0002669) help
........expandChondrosarcoma (HP:0006765) help
........expandRenal sarcoma (HP:0008663) help
........expandEwing's sarcoma (HP:0012254) help
........expandSoft tissue sarcoma (HP:0030448) help
................... HP:0002859 Rhabdomyosarcoma
................... HP:0010614 Fibroma
................... HP:0012218 Alveolar soft part sarcoma
................... HP:0012570 Synovial sarcoma
................... HP:0100243 Leiomyosarcoma
................... HP:0100244 Fibrosarcoma
................... HP:0100697 Neurofibrosarcoma
................... HP:0200058 Angiosarcoma

 Sister Nodes: 
..expandEmbryonal neoplasm (HP:0002898) help
..expandEpithelial neoplasm (HP:0031492) help
..expandFibrous tissue neoplasm (HP:0012316) help
..expandHamartoma (HP:0010566) help
..expandMelanoma (HP:0002861) help
..expandNervous tissue neoplasm (HP:0030060) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100242HP:0100242Sarcoma0BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100242Sarcoma0BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100242Sarcoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100242Sarcoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100242Sarcoma0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100242Sarcoma0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100242Sarcoma0EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0100242Sarcoma0EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0100242Sarcoma0GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100242Sarcoma0GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100242Sarcoma0KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100242Sarcoma0KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100242Sarcoma0PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100242Sarcoma0PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0100242Sarcoma0SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100242Sarcoma0SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100242Sarcoma0SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100242Sarcoma0SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0100242Sarcoma0SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100242Sarcoma0SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100242Sarcoma0WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100242Sarcoma0WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0030448Soft tissue sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0006765Chondrosarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0008663Renal sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0012254Ewing sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0002669Osteosarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0012254Ewing sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0002669Osteosarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0008663Renal sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0030448Soft tissue sarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0006765Chondrosarcoma1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0030448Soft tissue sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0006765Chondrosarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0008663Renal sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0012254Ewing sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0002669Osteosarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0012254Ewing sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0002669Osteosarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0030448Soft tissue sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0006765Chondrosarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0008663Renal sarcoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0030448Soft tissue sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0006765Chondrosarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0008663Renal sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0002669Osteosarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0012254Ewing sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0002669Osteosarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0012254Ewing sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0030448Soft tissue sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0006765Chondrosarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0008663Renal sarcoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0012254Ewing sarcoma1EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0002669Osteosarcoma1EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0008663Renal sarcoma1EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0030448Soft tissue sarcoma1EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0006765Chondrosarcoma1EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0008663Renal sarcoma1EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0030448Soft tissue sarcoma1EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0006765Chondrosarcoma1EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0012254Ewing sarcoma1EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0002669Osteosarcoma1EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0030448Soft tissue sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0006765Chondrosarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0008663Renal sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0030448Soft tissue sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0012254Ewing sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0002669Osteosarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0002669Osteosarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0012254Ewing sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0006765Chondrosarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0008663Renal sarcoma1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0030448Soft tissue sarcoma1KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0006765Chondrosarcoma1KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0008663Renal sarcoma1KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0030448Soft tissue sarcoma1KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0006765Chondrosarcoma1KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0008663Renal sarcoma1KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0012254Ewing sarcoma1KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0002669Osteosarcoma1KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0002669Osteosarcoma1KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0012254Ewing sarcoma1KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0008663Renal sarcoma1PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0030448Soft tissue sarcoma1PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0006765Chondrosarcoma1PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0008663Renal sarcoma1PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0030448Soft tissue sarcoma1PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0006765Chondrosarcoma1PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0012254Ewing sarcoma1PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0002669Osteosarcoma1PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0012254Ewing sarcoma1PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0002669Osteosarcoma1PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0030448Soft tissue sarcoma1SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0006765Chondrosarcoma1SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0008663Renal sarcoma1SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0030448Soft tissue sarcoma1SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0006765Chondrosarcoma1SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0008663Renal sarcoma1SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0012254Ewing sarcoma1SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0002669Osteosarcoma1SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0012254Ewing sarcoma1SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0002669Osteosarcoma1SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0008663Renal sarcoma1SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0030448Soft tissue sarcoma1SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0006765Chondrosarcoma1SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0008663Renal sarcoma1SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0030448Soft tissue sarcoma1SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0006765Chondrosarcoma1SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0012254Ewing sarcoma1SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0002669Osteosarcoma1SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0012254Ewing sarcoma1SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0002669Osteosarcoma1SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0012254Ewing sarcoma1SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0002669Osteosarcoma1SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0008663Renal sarcoma1SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0030448Soft tissue sarcoma1SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0006765Chondrosarcoma1SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0008663Renal sarcoma1SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0030448Soft tissue sarcoma1SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0006765Chondrosarcoma1SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0012254Ewing sarcoma1SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0002669Osteosarcoma1SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0012254Ewing sarcoma1WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0002669Osteosarcoma1WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0030448Soft tissue sarcoma1WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0006765Chondrosarcoma1WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0008663Renal sarcoma1WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0030448Soft tissue sarcoma1WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0006765Chondrosarcoma1WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0008663Renal sarcoma1WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0012254Ewing sarcoma1WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0002669Osteosarcoma1WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010614Fibroma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100697Neurofibrosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0002859Rhabdomyosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0200058Angiosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100244Fibrosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100243Leiomyosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0012570Synovial sarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0012218Alveolar soft part sarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100243Leiomyosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0012570Synovial sarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0012218Alveolar soft part sarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100244Fibrosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010614Fibroma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100697Neurofibrosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0002859Rhabdomyosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0200058Angiosarcoma2BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010614Fibroma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100697Neurofibrosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0002859Rhabdomyosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0200058Angiosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100244Fibrosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100243Leiomyosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0012570Synovial sarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0012218Alveolar soft part sarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100243Leiomyosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0012570Synovial sarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0012218Alveolar soft part sarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010614Fibroma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100697Neurofibrosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0002859Rhabdomyosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0200058Angiosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100244Fibrosarcoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0200058Angiosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100244Fibrosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010614Fibroma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100697Neurofibrosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0002859Rhabdomyosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0012218Alveolar soft part sarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100243Leiomyosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0012570Synovial sarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0012218Alveolar soft part sarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100243Leiomyosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0012570Synovial sarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0200058Angiosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100244Fibrosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0010614Fibroma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100697Neurofibrosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0002859Rhabdomyosarcoma2CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100243Leiomyosarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0012570Synovial sarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0012218Alveolar soft part sarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0100244Fibrosarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010614Fibroma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0100697Neurofibrosarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0002859Rhabdomyosarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0200058Angiosarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0100244Fibrosarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010614Fibroma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0100697Neurofibrosarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0002859Rhabdomyosarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0200058Angiosarcoma2EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0100243Leiomyosarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0012570Synovial sarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0012218Alveolar soft part sarcoma2EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0200058Angiosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100244Fibrosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010614Fibroma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100697Neurofibrosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0002859Rhabdomyosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0200058Angiosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100244Fibrosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0010614Fibroma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100697Neurofibrosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0012218Alveolar soft part sarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100243Leiomyosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0012570Synovial sarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0012218Alveolar soft part sarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100243Leiomyosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0012570Synovial sarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0002859Rhabdomyosarcoma2GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0200058Angiosarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100244Fibrosarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0010614Fibroma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100697Neurofibrosarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0002859Rhabdomyosarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0200058Angiosarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100244Fibrosarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010614Fibroma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100697Neurofibrosarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0002859Rhabdomyosarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0012218Alveolar soft part sarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100243Leiomyosarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0012570Synovial sarcoma2KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0012218Alveolar soft part sarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100243Leiomyosarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0012570Synovial sarcoma2KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100244Fibrosarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0010614Fibroma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100697Neurofibrosarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0002859Rhabdomyosarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0200058Angiosarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100244Fibrosarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010614Fibroma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0100697Neurofibrosarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0002859Rhabdomyosarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0200058Angiosarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0100243Leiomyosarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0012570Synovial sarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0012218Alveolar soft part sarcoma2PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100243Leiomyosarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0012570Synovial sarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0012218Alveolar soft part sarcoma2PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0200058Angiosarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100244Fibrosarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0010614Fibroma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100697Neurofibrosarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0002859Rhabdomyosarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0200058Angiosarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100244Fibrosarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010614Fibroma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100697Neurofibrosarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0002859Rhabdomyosarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100243Leiomyosarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0012570Synovial sarcoma2SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100243Leiomyosarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0012570Synovial sarcoma2SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100244Fibrosarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0010614Fibroma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100697Neurofibrosarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0002859Rhabdomyosarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0200058Angiosarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100244Fibrosarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010614Fibroma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0100697Neurofibrosarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0002859Rhabdomyosarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0200058Angiosarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0100243Leiomyosarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0012570Synovial sarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100243Leiomyosarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0012570Synovial sarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100243Leiomyosarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0012570Synovial sarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0200058Angiosarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100244Fibrosarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010614Fibroma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100697Neurofibrosarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0002859Rhabdomyosarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0200058Angiosarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100244Fibrosarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010614Fibroma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100697Neurofibrosarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0002859Rhabdomyosarcoma2SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0012218Alveolar soft part sarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100243Leiomyosarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0012570Synovial sarcoma2SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0012218Alveolar soft part sarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0100243Leiomyosarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0012570Synovial sarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0200058Angiosarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100244Fibrosarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010614Fibroma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100697Neurofibrosarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0002859Rhabdomyosarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0200058Angiosarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0100244Fibrosarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0010614Fibroma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0100697Neurofibrosarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0002859Rhabdomyosarcoma2WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0012218Alveolar soft part sarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100243Leiomyosarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0012570Synovial sarcoma2WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0000169Gingival fibromatosis3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009724Subungual fibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0010619Fibroadenoma of the breast3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0030426Ossifying fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0001067Neurofibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0010618Ovarian fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0010616Lung fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100804Ungual fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010615Angiofibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0006755Cutaneous leiomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010617Cardiac fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0500092Orbital rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100245Desmoid tumors3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0002891Uterine leiomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0200059Metastatic angiosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100804Ungual fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0010615Angiofibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0006755Cutaneous leiomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0010617Cardiac fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0500092Orbital rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100245Desmoid tumors3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0002891Uterine leiomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0200059Metastatic angiosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0000169Gingival fibromatosis3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0009724Subungual fibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010619Fibroadenoma of the breast3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0030426Ossifying fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0001067Neurofibromas3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010618Ovarian fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0010616Lung fibroma3BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0000169Gingival fibromatosis3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0009724Subungual fibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010619Fibroadenoma of the breast3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0030426Ossifying fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0001067Neurofibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010618Ovarian fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010616Lung fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100804Ungual fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010615Angiofibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0006755Cutaneous leiomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010617Cardiac fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0500092Orbital rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100245Desmoid tumors3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0002891Uterine leiomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0200059Metastatic angiosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100804Ungual fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010615Angiofibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0006755Cutaneous leiomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0010617Cardiac fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0500092Orbital rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0100245Desmoid tumors3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0002891Uterine leiomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0200059Metastatic angiosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0000169Gingival fibromatosis3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0009724Subungual fibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010619Fibroadenoma of the breast3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0030426Ossifying fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0001067Neurofibromas3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010618Ovarian fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010616Lung fibroma3CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0010618Ovarian fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010616Lung fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0000169Gingival fibromatosis3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0009724Subungual fibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010619Fibroadenoma of the breast3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0030426Ossifying fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0001067Neurofibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0500092Orbital rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100245Desmoid tumors3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0002891Uterine leiomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0200059Metastatic angiosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100804Ungual fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0010615Angiofibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0006755Cutaneous leiomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0010617Cardiac fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0500092Orbital rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100245Desmoid tumors3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0002891Uterine leiomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0200059Metastatic angiosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0100804Ungual fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010615Angiofibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0006755Cutaneous leiomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010617Cardiac fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0100242HP:0010618Ovarian fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0010616Lung fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0000169Gingival fibromatosis3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0009724Subungual fibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0010619Fibroadenoma of the breast3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0030426Ossifying fibroma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0001067Neurofibromas3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0100242HP:0100804Ungual fibroma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010615Angiofibromas3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0006755Cutaneous leiomyosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010617Cardiac fibroma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0500092Orbital rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0100245Desmoid tumors3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0002891Uterine leiomyosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0200059Metastatic angiosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010616Lung fibroma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0000169Gingival fibromatosis3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0009724Subungual fibromas3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010619Fibroadenoma of the breast3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0030426Ossifying fibroma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0001067Neurofibromas3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010618Ovarian fibroma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010616Lung fibroma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0000169Gingival fibromatosis3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0009724Subungual fibromas3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010619Fibroadenoma of the breast3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0030426Ossifying fibroma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0001067Neurofibromas3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0010618Ovarian fibroma3EWSR1 CL E G H213083469ORPHA1603508133450
HP:0100242HP:0002891Uterine leiomyosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0200059Metastatic angiosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0100804Ungual fibroma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010615Angiofibromas3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0006755Cutaneous leiomyosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010617Cardiac fibroma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0500092Orbital rhabdomyosarcoma3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0100245Desmoid tumors3EWSR1 CL E G H213083469ORPHA1623508133450
HP:0100242HP:0010616Lung fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0030426Ossifying fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010618Ovarian fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0000169Gingival fibromatosis3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0009724Subungual fibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0010619Fibroadenoma of the breast3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0001067Neurofibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0010616Lung fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0030426Ossifying fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0500092Orbital rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100245Desmoid tumors3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0002891Uterine leiomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0100804Ungual fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0006755Cutaneous leiomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010617Cardiac fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0200059Metastatic angiosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010615Angiofibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0500092Orbital rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100245Desmoid tumors3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0002891Uterine leiomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0100804Ungual fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0006755Cutaneous leiomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0010617Cardiac fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0200059Metastatic angiosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0010615Angiofibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11244220601146
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010618Ovarian fibroma3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0000169Gingival fibromatosis3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0009724Subungual fibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0010619Fibroadenoma of the breast3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0001067Neurofibromas3GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA11494220601146
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0010618Ovarian fibroma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0010616Lung fibroma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0000169Gingival fibromatosis3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0009724Subungual fibromas3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0010619Fibroadenoma of the breast3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0030426Ossifying fibroma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0001067Neurofibromas3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010618Ovarian fibroma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010616Lung fibroma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0000169Gingival fibromatosis3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0009724Subungual fibromas3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010619Fibroadenoma of the breast3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0030426Ossifying fibroma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0001067Neurofibromas3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010617Cardiac fibroma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0500092Orbital rhabdomyosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100245Desmoid tumors3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0002891Uterine leiomyosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0200059Metastatic angiosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0100804Ungual fibroma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0010615Angiofibromas3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0006755Cutaneous leiomyosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3KIT CL E G H381544890ORPHA117356342164920
HP:0100242HP:0500092Orbital rhabdomyosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100245Desmoid tumors3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0002891Uterine leiomyosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0200059Metastatic angiosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0100804Ungual fibroma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010615Angiofibromas3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0006755Cutaneous leiomyosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010617Cardiac fibroma3KIT CL E G H381544890ORPHA114906342164920
HP:0100242HP:0010616Lung fibroma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0000169Gingival fibromatosis3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0009724Subungual fibromas3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0010619Fibroadenoma of the breast3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0030426Ossifying fibroma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0001067Neurofibromas3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0010618Ovarian fibroma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0000169Gingival fibromatosis3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0009724Subungual fibromas3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010619Fibroadenoma of the breast3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0030426Ossifying fibroma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0001067Neurofibromas3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010618Ovarian fibroma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010616Lung fibroma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0100804Ungual fibroma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0010615Angiofibromas3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0006755Cutaneous leiomyosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0010617Cardiac fibroma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0500092Orbital rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100245Desmoid tumors3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0002891Uterine leiomyosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0200059Metastatic angiosarcoma3PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100242HP:0100804Ungual fibroma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010615Angiofibromas3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0006755Cutaneous leiomyosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0010617Cardiac fibroma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0500092Orbital rhabdomyosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0100245Desmoid tumors3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0002891Uterine leiomyosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0200059Metastatic angiosarcoma3PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100242HP:0001067Neurofibromas3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0010618Ovarian fibroma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0010616Lung fibroma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0000169Gingival fibromatosis3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0009724Subungual fibromas3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0010619Fibroadenoma of the breast3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0030426Ossifying fibroma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010618Ovarian fibroma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010616Lung fibroma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0000169Gingival fibromatosis3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0009724Subungual fibromas3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010619Fibroadenoma of the breast3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0030426Ossifying fibroma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0001067Neurofibromas3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010617Cardiac fibroma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100245Desmoid tumors3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0200059Metastatic angiosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0100804Ungual fibroma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0010615Angiofibromas3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1177810680600857
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100245Desmoid tumors3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0200059Metastatic angiosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0100804Ungual fibroma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010615Angiofibromas3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010617Cardiac fibroma3SDHA CL E G H638944890ORPHA1154510680600857
HP:0100242HP:0010616Lung fibroma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0000169Gingival fibromatosis3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0009724Subungual fibromas3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0010619Fibroadenoma of the breast3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0030426Ossifying fibroma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0001067Neurofibromas3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0010618Ovarian fibroma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0000169Gingival fibromatosis3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0009724Subungual fibromas3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010619Fibroadenoma of the breast3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0030426Ossifying fibroma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0001067Neurofibromas3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010618Ovarian fibroma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010616Lung fibroma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0200059Metastatic angiosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100804Ungual fibroma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0010615Angiofibromas3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0010617Cardiac fibroma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100245Desmoid tumors3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHB CL E G H639044890ORPHA192610681185470
HP:0100242HP:0100804Ungual fibroma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010615Angiofibromas3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0010617Cardiac fibroma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0100245Desmoid tumors3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0200059Metastatic angiosarcoma3SDHB CL E G H639044890ORPHA182410681185470
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0200059Metastatic angiosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010615Angiofibromas3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010618Ovarian fibroma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0000169Gingival fibromatosis3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010619Fibroadenoma of the breast3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0001067Neurofibromas3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010616Lung fibroma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0009724Subungual fibromas3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0030426Ossifying fibroma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010618Ovarian fibroma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0000169Gingival fibromatosis3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010619Fibroadenoma of the breast3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010616Lung fibroma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0009724Subungual fibromas3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0030426Ossifying fibroma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0001067Neurofibromas3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010617Cardiac fibroma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100245Desmoid tumors3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0100804Ungual fibroma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0500092Orbital rhabdomyosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0200059Metastatic angiosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010615Angiofibromas3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0006755Cutaneous leiomyosarcoma3SDHC CL E G H639144890ORPHA157510682602413
HP:0100242HP:0010617Cardiac fibroma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100245Desmoid tumors3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0002891Uterine leiomyosarcoma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0100804Ungual fibroma3SDHC CL E G H639144890ORPHA152610682602413
HP:0100242HP:0010617Cardiac fibroma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0500092Orbital rhabdomyosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0100245Desmoid tumors3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0002891Uterine leiomyosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0200059Metastatic angiosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0100804Ungual fibroma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0010615Angiofibromas3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0006755Cutaneous leiomyosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0030426Ossifying fibroma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0001067Neurofibromas3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010618Ovarian fibroma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010616Lung fibroma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0000169Gingival fibromatosis3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0009724Subungual fibromas3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010619Fibroadenoma of the breast3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0001067Neurofibromas3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0006743Embryonal rhabdomyosarcoma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0010618Ovarian fibroma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0010616Lung fibroma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0000169Gingival fibromatosis3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0009724Subungual fibromas3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0010619Fibroadenoma of the breast3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0030426Ossifying fibroma3WT1 CL E G H749083469ORPHA187312796607102
HP:0100242HP:0006779Alveolar rhabdomyosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010617Cardiac fibroma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0500092Orbital rhabdomyosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100245Desmoid tumors3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0002891Uterine leiomyosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0200059Metastatic angiosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0100804Ungual fibroma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0010615Angiofibromas3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0006755Cutaneous leiomyosarcoma3WT1 CL E G H749083469ORPHA1101812796607102
HP:0100242HP:0005220Multiple intestinal neurofibromatosis4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009595Occasional neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009732Plexiform neurofibroma4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009720Adenoma sebaceum4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0030427Ossifying fibroma of the jaw4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0100698Subcutaneous neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0007576Palmar neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0007524Atypical neurofibromatosis4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0006751Paraspinal neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0009735Spinal neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0030427Ossifying fibroma of the jaw4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0100698Subcutaneous neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0007576Palmar neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0007524Atypical neurofibromatosis4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0006751Paraspinal neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009735Spinal neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0009720Adenoma sebaceum4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12511077603248
HP:0100242HP:0005220Multiple intestinal neurofibromatosis4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0009595Occasional neurofibromas4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0009732Plexiform neurofibroma4BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA12731077603248
HP:0100242HP:0005220Multiple intestinal neurofibromatosis4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0009595Occasional neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0009732Plexiform neurofibroma4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0009720Adenoma sebaceum4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0030427Ossifying fibroma of the jaw4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100698Subcutaneous neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0007576Palmar neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0007524Atypical neurofibromatosis4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0006751Paraspinal neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0009735Spinal neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0100242HP:0100698Subcutaneous neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0007576Palmar neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0007524Atypical neurofibromatosis4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0100242HP:0006751Paraspinal neurofibromas4CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM1971