Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal breast morphology (HP:0031093)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Fibroma (HP:0010614)

Parent Node:
Neoplasm of the breast (HP:0100013)

..Starting node
..Fibroadenoma of the breast (HP:0010619)

Term ID:

10619

Name:

Fibroadenoma of the breast

Synonym:

Breast fibroadenoma; Breast fibroadenomas; Breast fibroadenosis; Fibroadenosis - breast; Fibroadenosis of breast

Definition:

A benign biphasic tumor of the breast with epithelial and stromal components.

Comments:

Reference:

HP:0010619

Genes and Diseases:

Child Nodes:

Sister Nodes:

Breast carcinoma (HP:0003002)

Ductal carcinoma in situ (HP:0030075)

Lobular carcinoma in situ (HP:0030076)

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:0010619	HP:0010619	Fibroadenoma of the breast	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional	3179
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040283 - Occasional	13
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040283 - Occasional	134
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB		2
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare

Genes (13) :AKT1 APC CASP10 FAS FASLG PDE11A PDE8B PRKACA PRKAR1A PRKCD PRLR PTEN RASGRP1

Diseases (9) :OMIM:615109 OMIM:175100 ORPHA:247806 ORPHA:3261 ORPHA:1359 ORPHA:189439 OMIM:615554 OMIM:158350 ORPHA:65285

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

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