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:
Fibroma (HP:0010614)

Grandparent Node:
Neoplasm of the peripheral nervous system (HP:0100007)

Grandparent Node:
Neoplasm of the skin (HP:0008069)

Parent Node:
Neurofibromas (HP:0001067)

..Starting node
..Subcutaneous neurofibromas (HP:0100698)

Term ID:

100698

Name:

Subcutaneous neurofibromas

Synonym:

Definition:

The presence of Neurofibromas in the subcutis.

Comments:

Reference:

HP:0100698

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical neurofibromatosis (HP:0007524)

Multiple intestinal neurofibromatosis (HP:0005220)

Occasional neurofibromas (HP:0009595)

Palmar neurofibromas (HP:0007576)

Paraspinal neurofibromas (HP:0006751)

Plexiform neurofibroma (HP:0009732)

Spinal neurofibromas (HP:0009735)

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:0100698	HP:0100698	Subcutaneous neurofibromas	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952

Genes (1) :NF1

Diseases (1) :ORPHA:363700

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