Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal oral mucosa morphology (HP:0011830)

Parent Node:
Abnormality of the gingiva (HP:0000168)

..Starting node
..Gingivitis (HP:0000230)

Term ID:

230

Name:

Gingivitis

Synonym:

Gingival inflammation; Inflamed gums; Red and swollen gums

Definition:

Inflammation of the gingiva.

Comments:

Reference:

HP:0000230

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fusion of gums (HP:0012292)

Gingival bleeding (HP:0000225)

Gingival calcification (HP:0025141)

Gingival cleft (HP:0030690)

Gingival fibromatosis (HP:0000169)

Gingival hyperkeratosis (HP:0000222)

Gingival overgrowth (HP:0000212)

Gingival recession (HP:0030816)

Periodontitis (HP:0000704)

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:0000230	HP:0000230	Gingivitis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000230	HP:0000230	Gingivitis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000230	HP:0000230	Gingivitis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0000230	HP:0000230	Gingivitis	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional	5
HP:0000230	HP:0000230	Gingivitis	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0000230	HP:0000230	Gingivitis	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0000230	HP:0000230	Gingivitis	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0000230	HP:0000230	Gingivitis	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000230	HP:0000230	Gingivitis	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0000230	HP:0000230	Gingivitis	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	27
HP:0000230	HP:0000230	Gingivitis	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	111
HP:0000230	HP:0000230	Gingivitis	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0000230	HP:0000230	Gingivitis	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0000230	HP:0000230	Gingivitis	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0000230	HP:0000230	Gingivitis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0000230	HP:0000230	Gingivitis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000230	HP:0000230	Gingivitis	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0000230	HP:0000230	Gingivitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000230	HP:0000230	Gingivitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000230	HP:0000230	Gingivitis	0	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000230	HP:0000230	Gingivitis	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0000230	HP:0000230	Gingivitis	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0000230	HP:0000230	Gingivitis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0000230	HP:0000230	Gingivitis	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	13
HP:0000230	HP:0000230	Gingivitis	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	67
HP:0000230	HP:0000230	Gingivitis	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	37
HP:0000230	HP:0000230	Gingivitis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000230	HP:0000230	Gingivitis	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0000230	HP:0000230	Gingivitis	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040282 - Frequent	11
HP:0000230	HP:0000230	Gingivitis	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0000230	HP:0000230	Gingivitis	0	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.	8
HP:0000230	HP:0000230	Gingivitis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000230	HP:0000230	Gingivitis	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional	12
HP:0000230	HP:0000230	Gingivitis	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0000230	HP:0000230	Gingivitis	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0000230	HP:0000230	Gingivitis	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82

Genes (32) :ALMS1 B4GALT7 CAT CD40LG CLPB CLTRN COL3A1 CTSC CYBA CYBB CYBC1 ELANE FERMT1 GFI1 GJB2 GJB6 IRF9 ITGB2 KRT6A LYST NCF1 NCF2 NCF4 OCRL PLEKHM1 PLG SAMD9 SLC37A4 SLC6A19 SRP54 STAT3 TCIRG1

Diseases (25) :ORPHA:64 OMIM:203800 ORPHA:75496 ORPHA:926 OMIM:308230 ORPHA:486 ORPHA:2116 ORPHA:286 ORPHA:678 ORPHA:379 ORPHA:2686 ORPHA:2908 OMIM:173650 ORPHA:477 OMIM:618648 OMIM:116920 OMIM:615726 OMIM:214500 ORPHA:534 OMIM:618107 ORPHA:722 OMIM:217090 OMIM:610455 ORPHA:79259 ORPHA:2314

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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