Human Phenotype Ontology 
Grandparent Node:
expand
Sarcoma (HP:0100242)help
Parent Node:
expand
Fibrous tissue neoplasm (HP:0012316)help
Parent Node:
expand
Soft tissue sarcoma (HP:0030448)help
..Starting node
..expand
Fibroma (HP:0010614)help
Term ID: 10614
Name: Fibroma
Synonym:
Definition: Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
Comments:
Reference: HP:0010614
Genes and Diseases:
 
       Child Nodes:
........expandGingival fibromatosis (HP:0000169) help
........expandNeurofibromas (HP:0001067) help
................... HP:0005220 Multiple intestinal neurofibromatosis
................... HP:0006751 Paraspinal neurofibromas
................... HP:0007524 Atypical neurofibromatosis
................... HP:0007576 Palmar neurofibromas
................... HP:0009595 Occasional neurofibromas
................... HP:0009732 Plexiform neurofibroma
................... HP:0009735 Spinal neurofibromas
................... HP:0100698 Subcutaneous neurofibromas
........expandSubungual fibromas (HP:0009724) help
........expandAngiofibromas (HP:0010615) help
................... HP:0009720 Adenoma sebaceum
........expandLung fibroma (HP:0010616) help
........expandCardiac fibroma (HP:0010617) help
........expandOvarian fibroma (HP:0010618) help
........expandFibroadenoma of the breast (HP:0010619) help
........expandOssifying fibroma (HP:0030426) help
................... HP:0030427 Ossifying fibroma of the jaw
........expandDesmoid tumors (HP:0100245) help
........expandUngual fibroma (HP:0100804) help

 Sister Nodes: 
..expandAlveolar soft part sarcoma (HP:0012218) help
..expandAngiosarcoma (HP:0200058) help
..expandFibrosarcoma (HP:0100244) help
..expandLeiomyosarcoma (HP:0100243) help
..expandNeurofibrosarcoma (HP:0100697) help
..expandRhabdomyosarcoma (HP:0002859) help
..expandSynovial sarcoma (HP:0012570) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010614HP:0010614Fibroma0CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010614Fibroma0CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0010614Fibroma0CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010614Fibroma0CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010614Fibroma0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010614Fibroma0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0010614Fibroma0PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010614Fibroma0PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009724Subungual fibromas1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0000169Gingival fibromatosis1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0100245Desmoid tumors1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0030426Ossifying fibroma1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010619Fibroadenoma of the breast1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0100804Ungual fibroma1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010616Lung fibroma1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0001067Neurofibromas1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010615Angiofibromas1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010618Ovarian fibroma1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010617Cardiac fibroma1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010616Lung fibroma1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0001067Neurofibromas1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0010615Angiofibromas1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0010618Ovarian fibroma1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010617Cardiac fibroma1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0009724Subungual fibromas1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0000169Gingival fibromatosis1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0100245Desmoid tumors1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0030426Ossifying fibroma1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010619Fibroadenoma of the breast1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0100804Ungual fibroma1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0001067Neurofibromas1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010615Angiofibromas1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010618Ovarian fibroma1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010617Cardiac fibroma1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0009724Subungual fibromas1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0000169Gingival fibromatosis1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0100245Desmoid tumors1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0030426Ossifying fibroma1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0010619Fibroadenoma of the breast1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0100804Ungual fibroma1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010616Lung fibroma1CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0010617Cardiac fibroma1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0009724Subungual fibromas1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0000169Gingival fibromatosis1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0100245Desmoid tumors1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0030426Ossifying fibroma1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0010619Fibroadenoma of the breast1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0100804Ungual fibroma1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010616Lung fibroma1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0001067Neurofibromas1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010615Angiofibromas1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0010618Ovarian fibroma1CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0010617Cardiac fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0100245Desmoid tumors1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0100804Ungual fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010616Lung fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0001067Neurofibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010615Angiofibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010618Ovarian fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0009724Subungual fibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0000169Gingival fibromatosis1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0030426Ossifying fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0010619Fibroadenoma of the breast1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0010618Ovarian fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0009724Subungual fibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0000169Gingival fibromatosis1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0030426Ossifying fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010619Fibroadenoma of the breast1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0010617Cardiac fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0100245Desmoid tumors1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0100804Ungual fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0010616Lung fibroma1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0001067Neurofibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0010615Angiofibromas1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0009724Subungual fibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0000169Gingival fibromatosis1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0030426Ossifying fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0010619Fibroadenoma of the breast1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0010618Ovarian fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0100804Ungual fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010616Lung fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0001067Neurofibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010615Angiofibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010617Cardiac fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0100245Desmoid tumors1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010616Lung fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0001067Neurofibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0010615Angiofibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0010617Cardiac fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0100245Desmoid tumors1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0100804Ungual fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009724Subungual fibromas1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0000169Gingival fibromatosis1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0030426Ossifying fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010619Fibroadenoma of the breast1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0010618Ovarian fibroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0009732Plexiform neurofibroma2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0030427Ossifying fibroma of the jaw2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0007524Atypical neurofibromatosis2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0006751Paraspinal neurofibromas2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0009720Adenoma sebaceum2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0009735Spinal neurofibromas2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0007576Palmar neurofibromas2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0009595Occasional neurofibromas2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0100698Subcutaneous neurofibromas2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0009720Adenoma sebaceum2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0009735Spinal neurofibromas2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0007576Palmar neurofibromas2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0009595Occasional neurofibromas2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0100698Subcutaneous neurofibromas2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0009732Plexiform neurofibroma2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0030427Ossifying fibroma of the jaw2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0007524Atypical neurofibromatosis2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0006751Paraspinal neurofibromas2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0009720Adenoma sebaceum2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0009735Spinal neurofibromas2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0007576Palmar neurofibromas2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0009595Occasional neurofibromas2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0100698Subcutaneous neurofibromas2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0009732Plexiform neurofibroma2CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0030427Ossifying fibroma of the jaw2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0007524Atypical neurofibromatosis2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0006751Paraspinal neurofibromas2CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0009732Plexiform neurofibroma2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0030427Ossifying fibroma of the jaw2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0007524Atypical neurofibromatosis2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0006751Paraspinal neurofibromas2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0009720Adenoma sebaceum2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0009735Spinal neurofibromas2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0007576Palmar neurofibromas2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0009595Occasional neurofibromas2CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0100698Subcutaneous neurofibromas2CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0009732Plexiform neurofibroma2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0009720Adenoma sebaceum2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0007576Palmar neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0009595Occasional neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0006751Paraspinal neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0009735Spinal neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0100698Subcutaneous neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0030427Ossifying fibroma of the jaw2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0007524Atypical neurofibromatosis2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0009735Spinal neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0100698Subcutaneous neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0030427Ossifying fibroma of the jaw2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0007524Atypical neurofibromatosis2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0006751Paraspinal neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0009732Plexiform neurofibroma2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0009720Adenoma sebaceum2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0007576Palmar neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0009595Occasional neurofibromas2FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0030427Ossifying fibroma of the jaw2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0007524Atypical neurofibromatosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0006751Paraspinal neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009735Spinal neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0100698Subcutaneous neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009720Adenoma sebaceum2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0007576Palmar neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0009595Occasional neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0009732Plexiform neurofibroma2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0009720Adenoma sebaceum2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0007576Palmar neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009595Occasional neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0009732Plexiform neurofibroma2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0010614HP:0030427Ossifying fibroma of the jaw2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0007524Atypical neurofibromatosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0006751Paraspinal neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0005220Multiple intestinal neurofibromatosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0009735Spinal neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0100698Subcutaneous neurofibromas2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3CDC73 CL E G H7957799880ORPHA170416783607393
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3CDC73 CL E G H79577143ORPHA182816783607393
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3CDC73 CL E G H79577143ORPHA170416783607393
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3CDC73 CL E G H7957799880ORPHA182816783607393
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0010614HP:0006851Symmetric spinal nerve root neurofibromas3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (48) :ABCA5 AKT1 ANTXR2 APC ATP6V1B2 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CTNNB1 DHCR24 ELMO2 FAM20C FLNA HRAS KCNH1 KIT KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NF1 NF2 NOTCH3 NRAS PDGFRA PDGFRB PIK3CA PLCD1 PRKAR1A PRLR PTCH1 PTCH2 PTEN REST SDHB SDHC SDHD SEC23B SOS1 SPRED1 SUFU TSC1 TSC2

Diseases (51) :143 99880 300244 228550 135400 2026 615109 2028 228600 261584 247806 79665 873 135290 175100 3473 652 276152 602398 3019 1832 135500 606764 193520 2591 615108 1359 615554 77301 109400 65285 158350 2024 135300 611431 805 538 191100 613254 201 2612 841 131100 587 158320 162200 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.