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 cutaneous fungal infections (HP:0011370)

Parent Node:
Recurrent fungal infections (HP:0002841)

..Starting node
..Chronic mucocutaneous candidiasis (HP:0002728)

Term ID:

2728

Name:

Chronic mucocutaneous candidiasis

Synonym:

Chronic candidiasis of mucosa, skin and nails; Mucocutaneous candidiasis

Definition:

Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.

Comments:

Reference:

HP:0002728

Genes and Diseases:

Child Nodes:

........

Chronic intestinal candidiasis (HP:0005411)

........

Chronic oral candidiasis (HP:0009098)

........

Recurrent vulvovaginal candidiasis (HP:0012204)

Sister Nodes:

Onychomycosis (HP:0012203)

Recurrent Aspergillus infections (HP:0002724)

Recurrent candida infections (HP:0005401)

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:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent	89
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0002728	HP:0002728	Chronic mucocutaneous candidiasis	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1
HP:0002728	HP:0005411	Chronic intestinal candidiasis	1	CL E G H
HP:0002728	HP:0009098	Chronic oral candidiasis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002728	HP:0009098	Chronic oral candidiasis	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002728	HP:0009098	Chronic oral candidiasis	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002728	HP:0012204	Recurrent vulvovaginal candidiasis	1	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002728	HP:0009098	Chronic oral candidiasis	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0002728	HP:0009098	Chronic oral candidiasis	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002728	HP:0009098	Chronic oral candidiasis	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002728	HP:0009098	Chronic oral candidiasis	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002728	HP:0009098	Chronic oral candidiasis	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002728	HP:0009098	Chronic oral candidiasis	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0002728	HP:0009098	Chronic oral candidiasis	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0002728	HP:0009098	Chronic oral candidiasis	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002728	HP:0009098	Chronic oral candidiasis	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002728	HP:0009098	Chronic oral candidiasis	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002728	HP:0009098	Chronic oral candidiasis	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002728	HP:0012204	Recurrent vulvovaginal candidiasis	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002728	HP:0009098	Chronic oral candidiasis	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002728	HP:0009098	Chronic oral candidiasis	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002728	HP:0009098	Chronic oral candidiasis	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002728	HP:0009098	Chronic oral candidiasis	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46

Genes (42) :ADA AIRE AP3B1 CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CIITA CLEC7A DCLRE1C DOCK2 EPG5 IKBKB IL17F IL17RA IL17RC IL2RA IL2RG IL6ST IL7R ITGB2 JAK3 KNSTRN MVK PGM3 PIK3CD RFX5 RFXANK RFXAP SP110 SREBF1 STAT1 STAT3 TFRC TLR8 TOM1 WDR1 ZAP70 ZNF341

Diseases (39) :OMIM:102700 OMIM:240300 ORPHA:3453 OMIM:608233 OMIM:212050 OMIM:618131 ORPHA:169160 OMIM:615607 OMIM:308230 OMIM:209920 ORPHA:572 OMIM:613108 ORPHA:275 OMIM:616433 OMIM:242840 OMIM:618204 OMIM:613956 OMIM:613953 OMIM:616445 OMIM:606367 OMIM:300400 ORPHA:276 OMIM:619752 OMIM:608971 OMIM:116920 ORPHA:35078 ORPHA:221139 OMIM:260920 OMIM:615816 ORPHA:79124 OMIM:158310 ORPHA:391487 OMIM:614162 OMIM:147060 OMIM:616740 OMIM:301078 OMIM:150550 ORPHA:911 OMIM:618282

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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