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 cutaneous fungal infections (HP:0011370)

Grandparent Node:
Recurrent fungal infections (HP:0002841)

Parent Node:
Chronic mucocutaneous candidiasis (HP:0002728)

..Starting node
..Chronic oral candidiasis (HP:0009098)

Term ID:

9098

Name:

Chronic oral candidiasis

Synonym:

Chronic oral thrush

Definition:

Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.

Comments:

Reference:

HP:0009098

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic intestinal candidiasis (HP:0005411)

Recurrent vulvovaginal candidiasis (HP:0012204)

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:0009098	HP:0009098	Chronic oral 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:0009098	HP:0009098	Chronic oral candidiasis	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0009098	HP:0009098	Chronic oral candidiasis	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0009098	HP:0009098	Chronic oral candidiasis	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:0009098	HP:0009098	Chronic oral candidiasis	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:0009098	HP:0009098	Chronic oral candidiasis	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:0009098	HP:0009098	Chronic oral candidiasis	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0009098	HP:0009098	Chronic oral candidiasis	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0009098	HP:0009098	Chronic oral candidiasis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0009098	HP:0009098	Chronic oral candidiasis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0009098	HP:0009098	Chronic oral candidiasis	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0009098	HP:0009098	Chronic oral candidiasis	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0009098	HP:0009098	Chronic oral candidiasis	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0009098	HP:0009098	Chronic oral 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:0009098	HP:0009098	Chronic oral candidiasis	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0009098	HP:0009098	Chronic oral candidiasis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009098	HP:0009098	Chronic oral candidiasis	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0009098	HP:0009098	Chronic oral candidiasis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009098	HP:0009098	Chronic oral candidiasis	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0009098	HP:0009098	Chronic oral candidiasis	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0009098	HP:0009098	Chronic oral candidiasis	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0009098	HP:0009098	Chronic oral candidiasis	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0009098	HP:0009098	Chronic oral candidiasis	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46

Genes (22) :AIRE AP3B1 CARD9 CD247 CD3D CD3E CD3G CD40LG DCLRE1C DOCK2 IL17RA IL2RA IL2RG JAK3 KNSTRN MVK PIK3CD STAT1 TFRC TLR8 WDR1 ZAP70

Diseases (20) :OMIM:240300 OMIM:608233 OMIM:212050 ORPHA:169160 OMIM:615607 OMIM:308230 ORPHA:275 OMIM:616433 OMIM:613953 OMIM:606367 OMIM:300400 ORPHA:276 ORPHA:35078 ORPHA:221139 OMIM:260920 OMIM:614162 OMIM:616740 OMIM:301078 OMIM:150550 ORPHA:911

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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