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

Human Phenotype Ontology

Grandparent Node:
Abnormal inflammatory response (HP:0012647)

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Parent Node:
Abnormal epididymis morphology (HP:0009714)

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Parent Node:
Increased inflammatory response (HP:0012649)

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..Starting node
..Epididymitis (HP:0000031)

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Term ID:

31

Name:

Epididymitis

Synonym:

Definition:

The presence of inflammation of the epididymis.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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Cholangitis (HP:0030151)

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..

Chondritis (HP:0100662)

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Endocarditis (HP:0100584)

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Fasciitis (HP:0100537)

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Gastrointestinal inflammation (HP:0004386)

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Hepatitis (HP:0012115)

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Inflammatory abnormality of the eye (HP:0100533)

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Inflammatory abnormality of the skin (HP:0011123)

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Lymphadenitis (HP:0002840)

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Meningitis (HP:0001287)

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Myelitis (HP:0012486)

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Myositis (HP:0100614)

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Nephritis (HP:0000123)

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Optic neuritis (HP:0100653)

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Osteomyelitis (HP:0002754)

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Otitis media (HP:0000388)

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Pancreatitis (HP:0001733)

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Panniculitis (HP:0012490)

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Periodontitis (HP:0000704)

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Pneumonia (HP:0002090)

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Prostatitis (HP:0000024)

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Serositis (HP:0045073)

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Sinusitis (HP:0000246)

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Stomatitis (HP:0010280)

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Thyroiditis (HP:0100646)

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Urinary bladder inflammation (HP:0100577)

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Vaginitis (HP:0030683)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000031	HP:0000031	Epididymitis	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.			109
HP:0000031	HP:0000031	Epididymitis	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.			109
HP:0000031	HP:0000031	Epididymitis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency				1
HP:0000031	HP:0000031	Epididymitis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency				5
HP:0000031	HP:0000031	Epididymitis	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms				20
HP:0000031	HP:0000031	Epididymitis	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.			44

Genes (5) :BTK IGHG2 IGKC PSMB8 UNG

Diseases (5) :OMIM:300755 OMIM:307200 ORPHA:183675 OMIM:256040 OMIM:608106

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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