Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Sarcoma (HP:0100242)

Parent Node:
Soft tissue sarcoma (HP:0030448)

..Starting node
..Neurofibrosarcoma (HP:0100697)

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:

Alveolar soft part sarcoma (HP:0012218)

Angiosarcoma (HP:0200058)

Fibroma (HP:0010614)

Fibrosarcoma (HP:0100244)

Leiomyosarcoma (HP:0100243)

Rhabdomyosarcoma (HP:0002859)

Synovial sarcoma (HP:0012570)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100697	HP:0100697	Neurofibrosarcoma	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0100697	HP:0100697	Neurofibrosarcoma	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0100697	HP:0100697	Neurofibrosarcoma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100697	HP:0100697	Neurofibrosarcoma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0100697	HP:0100697	Neurofibrosarcoma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0100697	HP:0100697	Neurofibrosarcoma	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291

Genes (4) :BRAF MAP2K1 NF1 PTPN11

Diseases (4) :OMIM:163950 ORPHA:97685 ORPHA:363700 OMIM:162200

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.