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:
Recurrent infections (HP:0002719)

Parent Node:
Recurrent fungal infections (HP:0002841)

..Starting node
..Recurrent candida infections (HP:0005401)

Term ID:

5401

Name:

Recurrent candida infections

Synonym:

Frequent candida infections

Definition:

An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.

Comments:

Reference:

HP:0005401

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic mucocutaneous candidiasis (HP:0002728)

Onychomycosis (HP:0012203)

Recurrent Aspergillus infections (HP:0002724)

Recurrent interdigital mycosis (HP:0025351)

Recurrent plantar mycosis (HP:0025472)

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:0005401	HP:0005401	Recurrent candida infections	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0005401	HP:0005401	Recurrent candida infections	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0005401	HP:0005401	Recurrent candida infections	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0005401	HP:0005401	Recurrent candida infections	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0005401	HP:0005401	Recurrent candida infections	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0005401	HP:0005401	Recurrent candida infections	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0005401	HP:0005401	Recurrent candida infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0005401	HP:0005401	Recurrent candida infections	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0005401	HP:0005401	Recurrent candida infections	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0005401	HP:0005401	Recurrent candida infections	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040282 - Frequent	46
HP:0005401	HP:0005401	Recurrent candida infections	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0005401	HP:0005401	Recurrent candida infections	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0005401	HP:0005401	Recurrent candida infections	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0005401	HP:0005401	Recurrent candida infections	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0005401	HP:0005401	Recurrent candida infections	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0005401	HP:0005401	Recurrent candida infections	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46

Genes (15) :BTD CD247 CD3D CD3E CIITA DOCK8 GJB2 GJB6 IL12RB1 IL7R RFX5 RFXANK RFXAP SLC39A4 ZAP70

Diseases (10) :ORPHA:79241 OMIM:610163 ORPHA:169160 ORPHA:572 ORPHA:217390 ORPHA:477 ORPHA:319552 ORPHA:169154 OMIM:201100 OMIM:269840

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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