Human Phenotype Ontology 
Grandparent Node:
expand
Sarcoma (HP:0100242)help
Parent Node:
expand
Soft tissue sarcoma (HP:0030448)help
..Starting node
..expand
Neurofibrosarcoma (HP:0100697)help
Term ID: 100697
Name: Neurofibrosarcoma
Synonym: Malignant peripheral nerve sheath tumor; Malignant peripheral nerve sheath tumour; Malignant schwannoma; Neurosarcoma
Definition: A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.
Comments:
Reference: HP:0100697
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAlveolar soft part sarcoma (HP:0012218) help
..expandAngiosarcoma (HP:0200058) help
..expandFibroma (HP:0010614) help
..expandFibrosarcoma (HP:0100244) help
..expandLeiomyosarcoma (HP:0100243) 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:0100697HP:0100697Neurofibrosarcoma0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0100697HP:0100697Neurofibrosarcoma0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0100697HP:0100697Neurofibrosarcoma0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0100697HP:0100697Neurofibrosarcoma0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0100697HP:0100697Neurofibrosarcoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM180607765613113
HP:0100697HP:0100697Neurofibrosarcoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM191517765613113
HP:0100697HP:0100697Neurofibrosarcoma0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0100697HP:0100697Neurofibrosarcoma0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :BRAF MAP2K1 NF1 PTPN11

Diseases (2) :163950 162200
 

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