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:
Neurofibromas (HP:0001067)

Parent Node:
Spinal neurofibromas (HP:0009735)

..Starting node
..Symmetric spinal nerve root neurofibromas (HP:0006851)

Term ID:

6851

Name:

Symmetric spinal nerve root neurofibromas

Synonym:

Spinal nerve root neurofibromas, symmetric, multiple

Definition:

Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.

Comments:

Reference:

HP:0006851

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006851	HP:0006851	Symmetric spinal nerve root neurofibromas	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952

Genes (1) :NF1

Diseases (1) :OMIM:162210

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