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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the breast (HP:0000769)

..Starting node
..Abnormal breast physiology (HP:0031094)

Term ID:

31094

Name:

Abnormal breast physiology

Synonym:

Definition:

Any anomaly of the function of the breast.

Comments:

Reference:

HP:0031094

Genes and Diseases:

Child Nodes:

........

Agalactia (HP:0031109)

........

Galactorrhea (HP:0100829)

Sister Nodes:

Abnormal breast morphology (HP:0031093)

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:0031094	HP:0031094	Abnormal breast physiology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0031094	HP:0031094	Abnormal breast physiology	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0031094	HP:0031094	Abnormal breast physiology	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0031094	HP:0031094	Abnormal breast physiology	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0031094	HP:0031094	Abnormal breast physiology	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0031094	HP:0031094	Abnormal breast physiology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0031094	HP:0031094	Abnormal breast physiology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0031094	HP:0031094	Abnormal breast physiology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0031094	HP:0031094	Abnormal breast physiology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0031094	HP:0031094	Abnormal breast physiology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0031094	HP:0031094	Abnormal breast physiology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0031094	HP:0031094	Abnormal breast physiology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0031094	HP:0031094	Abnormal breast physiology	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0031094	HP:0031094	Abnormal breast physiology	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0031094	HP:0031094	Abnormal breast physiology	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia		2
HP:0031094	HP:0031094	Abnormal breast physiology	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA		2
HP:0031094	HP:0100829	Galactorrhea	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0031094	HP:0100829	Galactorrhea	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0031094	HP:0100829	Galactorrhea	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040283 - Occasional	95
HP:0031094	HP:0100829	Galactorrhea	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	95
HP:0031094	HP:0100829	Galactorrhea	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	636
HP:0031094	HP:0100829	Galactorrhea	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0031094	HP:0100829	Galactorrhea	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0031094	HP:0100829	Galactorrhea	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0031094	HP:0100829	Galactorrhea	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0031094	HP:0100829	Galactorrhea	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0031094	HP:0100829	Galactorrhea	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0031094	HP:0100829	Galactorrhea	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0031094	HP:0100829	Galactorrhea	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040283 - Occasional	462
HP:0031094	HP:0100829	Galactorrhea	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	462
HP:0031094	HP:0100829	Galactorrhea	1	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040281 - Very frequent	2
HP:0031094	HP:0100829	Galactorrhea	1	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	HP:0040283 - Occasional	2
HP:0031094	HP:0031109	Agalactia	1	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	HP:0040284 - Very rare	2

Genes (10) :AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C GPR101 IRF4 MEN1 PRLR

Diseases (8) :ORPHA:963 OMIM:102200 ORPHA:99725 ORPHA:2965 ORPHA:652 ORPHA:3452 ORPHA:397685 OMIM:615555

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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