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:
Abnormality of the subungual region (HP:0009723)

Parent Node:
Fibroma (HP:0010614)

..Starting node
..Subungual fibromas (HP:0009724)

Term ID:

9724

Name:

Subungual fibromas

Synonym:

Subungual fibroma

Definition:

The presence of fibromata beneath finger or toenails.

Comments:

Reference:

HP:0009724

Genes and Diseases:

Child Nodes:

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)

Ossifying fibroma (HP:0030426)

Ovarian fibroma (HP:0010618)

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:0009724	HP:0009724	Subungual fibromas	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009724	HP:0009724	Subungual fibromas	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009724	HP:0009724	Subungual fibromas	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (3) :IFNG TSC1 TSC2

Diseases (2) :OMIM:613254 OMIM:191100

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