Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRLR CL E G H	5618	615554	Multiple fibroadenomas of the breast	615554	C3809918	OMIM	1	36	9446	176761
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRLR CL E G H	5618	615554	Multiple fibroadenomas of the breast	615554	C3809918	OMIM	1	35	9446	176761
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	65285				ORPHA	1	2416	9588	601728
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	65285				ORPHA	1	2246	9588	601728
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	247806				ORPHA	0	9051	583	611731
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	247806				ORPHA	0	9963	583	611731
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	175100	Familial adenomatous polyposis 1	175100	C2713442	OMIM	0	9051	583	611731
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	APC CL E G H	324	175100	Familial adenomatous polyposis 1	175100	C2713442	OMIM	0	9963	583	611731
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKAR1A CL E G H	5573	1359				ORPHA	0	623	9388	188830
HP:0010619	HP:0010619	Fibroadenoma of the breast	0	PRKAR1A CL E G H	5573	1359				ORPHA	0	725	9388	188830

Genes (6) :AKT1 APC PIK3CA PRKAR1A PRLR PTEN

Diseases (8) :615109 247806 175100 615108 1359 615554 65285 158350

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen