Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the skin (HP:0000951)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Fibroma (HP:0010614)help
Parent Node:
expand
Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
expand
Neoplasm of the skin (HP:0008069)help
..Starting node
..expand
Neurofibromas (HP:0001067)help
Term ID: 1067
Name: Neurofibromas
Synonym: multiple neurofibromas; Neurofibromata; Neurofibromatosis
Definition: The presence of multiple cutaneous neurofibromas.
Comments:
Reference: HP:0001067
Genes and Diseases:
 
       Child Nodes:
........expandMultiple intestinal neurofibromatosis (HP:0005220) help
........expandParaspinal neurofibromas (HP:0006751) help
........expandAtypical neurofibromatosis (HP:0007524) help
........expandPalmar neurofibromas (HP:0007576) help
........expandOccasional neurofibromas (HP:0009595) help
........expandPlexiform neurofibroma (HP:0009732) help
........expandSpinal neurofibromas (HP:0009735) help
................... HP:0006851 Symmetric spinal nerve root neurofibromas
........expandSubcutaneous neurofibromas (HP:0100698) help

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous mastocytosis (HP:0200151) help
..expandCutaneous melanoma (HP:0012056) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001067HP:0001067Neurofibromas0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0001067Neurofibromas0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0001067Neurofibromas0NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0001067Neurofibromas0NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0001067Neurofibromas0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0001067Neurofibromas0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0001067Neurofibromas0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0001067Neurofibromas0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0001067Neurofibromas0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0001067Neurofibromas0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0001067Neurofibromas0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0001067Neurofibromas0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0100698Subcutaneous neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0007576Palmar neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0007524Atypical neurofibromatosis1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0006751Paraspinal neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0009735Spinal neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0009595Occasional neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0009732Plexiform neurofibroma1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0009595Occasional neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0009732Plexiform neurofibroma1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0100698Subcutaneous neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0007576Palmar neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0007524Atypical neurofibromatosis1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0006751Paraspinal neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0009735Spinal neurofibromas1KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0007576Palmar neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0007524Atypical neurofibromatosis1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0006751Paraspinal neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0009735Spinal neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0100698Subcutaneous neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0009595Occasional neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0009732Plexiform neurofibroma1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0009595Occasional neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0009732Plexiform neurofibroma1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0007576Palmar neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0007524Atypical neurofibromatosis1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0006751Paraspinal neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0009735Spinal neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0100698Subcutaneous neurofibromas1NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0100698Subcutaneous neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0007576Palmar neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0007524Atypical neurofibromatosis1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0006751Paraspinal neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0009735Spinal neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0009595Occasional neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0009732Plexiform neurofibroma1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0009595Occasional neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0009732Plexiform neurofibroma1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0100698Subcutaneous neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0007576Palmar neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0007524Atypical neurofibromatosis1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0006751Paraspinal neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0009735Spinal neurofibromas1PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0100698Subcutaneous neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0007576Palmar neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0007524Atypical neurofibromatosis1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0006751Paraspinal neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0009735Spinal neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0009595Occasional neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0009732Plexiform neurofibroma1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0009595Occasional neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0009732Plexiform neurofibroma1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0009735Spinal neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0100698Subcutaneous neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0007576Palmar neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0007524Atypical neurofibromatosis1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0006751Paraspinal neurofibromas1SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0009735Spinal neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0100698Subcutaneous neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0007576Palmar neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0007524Atypical neurofibromatosis1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0006751Paraspinal neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0009595Occasional neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0009732Plexiform neurofibroma1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0009595Occasional neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0009732Plexiform neurofibroma1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0009735Spinal neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0100698Subcutaneous neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0007576Palmar neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0007524Atypical neurofibromatosis1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0006751Paraspinal neurofibromas1SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0009735Spinal neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0100698Subcutaneous neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0007576Palmar neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0007524Atypical neurofibromatosis1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0006751Paraspinal neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0009732Plexiform neurofibroma1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0009595Occasional neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0005220Multiple intestinal neurofibromatosis1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0009595Occasional neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0009732Plexiform neurofibroma1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
HP:0001067HP:0009735Spinal neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0100698Subcutaneous neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0007576Palmar neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0007524Atypical neurofibromatosis1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0006751Paraspinal neurofibromas1SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM191517765613113
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM180607765613113
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM152920249609291
HP:0001067HP:0006851Symmetric spinal nerve root neurofibromas2SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM143820249609291
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (7) :KIT NF1 NF2 PDGFRA SDHB SDHC SPRED1

Diseases (8) :606764 193520 611431 162200 601321 637 101000 162210
 

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