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:
Fibrous tissue neoplasm (HP:0012316)

Grandparent Node:
Soft tissue sarcoma (HP:0030448)

Parent Node:
Fibroma (HP:0010614)

..Starting node
..Ossifying fibroma (HP:0030426)

Term ID:

30426

Name:

Ossifying fibroma

Synonym:

Definition:

A benign central bone tumor composed of fibrous connective tissue within which bone is formed.

Comments:

Reference:

HP:0030426

Genes and Diseases:

Child Nodes:

........

Ossifying fibroma of the jaw (HP:0030427)

Sister Nodes:

Angiofibromas (HP:0010615)

Cardiac fibroma (HP:0010617)

Desmoid tumors (HP:0100245)

Fibroadenoma of the breast (HP:0010619)

Gingival fibromatosis (HP:0000169)

Lung fibroma (HP:0010616)

Neurofibromas (HP:0001067)

Ovarian fibroma (HP:0010618)

Subungual fibromas (HP:0009724)

Ungual fibroma (HP:0100804)

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:0030426	HP:0030426	Ossifying fibroma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0030426	HP:0030426	Ossifying fibroma	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0030426	HP:0030427	Ossifying fibroma of the jaw	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2

Genes (2) :NF1 RSPRY1

Diseases (2) :ORPHA:363700 ORPHA:457395

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