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:
Abnormality of the digestive system (HP:0025031)

Parent Node:
Abnormal abdomen morphology (HP:0001438)

..Starting node
..Pelvic mass (HP:0031501)

Term ID:

31501

Name:

Pelvic mass

Synonym:

Definition:

An abnormal enlargement or swelling in the pelvic region.

Comments:

Reference:

HP:0031501

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal aseptic abscess (HP:0025181)

Abdominal mass (HP:0031500)

Ascites (HP:0001541)

Duplication of internal organs (HP:0005217)

Pelvic organ prolapse (HP:0031607)

Visceromegaly (HP:0003271)

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:0031501	HP:0031501	Pelvic mass	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0031501	HP:0031501	Pelvic mass	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0031501	HP:0031501	Pelvic mass	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1

Genes (3) :FLI1 NAB2 STAT6

Diseases (2) :ORPHA:370348 ORPHA:2126

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