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:
Abnormal oral mucosa morphology (HP:0011830)

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

..Starting node
..Gingival overgrowth (HP:0000212)

Term ID:

212

Name:

Gingival overgrowth

Synonym:

Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis; Oral soft tissue hyperplasia

Definition:

Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.

Comments:

Reference:

HP:0000212

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 recession (HP:0030816)

Gingivitis (HP:0000230)

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:0000212	HP:0000212	Gingival overgrowth	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040282 - Frequent	1
HP:0000212	HP:0000212	Gingival overgrowth	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000212	HP:0000212	Gingival overgrowth	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000212	HP:0000212	Gingival overgrowth	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	1
HP:0000212	HP:0000212	Gingival overgrowth	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000212	HP:0000212	Gingival overgrowth	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0000212	HP:0000212	Gingival overgrowth	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0000212	HP:0000212	Gingival overgrowth	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0000212	HP:0000212	Gingival overgrowth	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0000212	HP:0000212	Gingival overgrowth	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional	49
HP:0000212	HP:0000212	Gingival overgrowth	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000212	HP:0000212	Gingival overgrowth	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0000212	HP:0000212	Gingival overgrowth	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0000212	HP:0000212	Gingival overgrowth	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000212	HP:0000212	Gingival overgrowth	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0000212	HP:0000212	Gingival overgrowth	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0000212	HP:0000212	Gingival overgrowth	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0000212	HP:0000212	Gingival overgrowth	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000212	HP:0000212	Gingival overgrowth	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	147
HP:0000212	HP:0000212	Gingival overgrowth	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000212	HP:0000212	Gingival overgrowth	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0000212	HP:0000212	Gingival overgrowth	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000212	HP:0000212	Gingival overgrowth	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000212	HP:0000212	Gingival overgrowth	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000212	HP:0000212	Gingival overgrowth	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000212	HP:0000212	Gingival overgrowth	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000212	HP:0000212	Gingival overgrowth	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000212	HP:0000212	Gingival overgrowth	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000212	HP:0000212	Gingival overgrowth	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000212	HP:0000212	Gingival overgrowth	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000212	HP:0000212	Gingival overgrowth	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000212	HP:0000212	Gingival overgrowth	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent	5
HP:0000212	HP:0000212	Gingival overgrowth	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000212	HP:0000212	Gingival overgrowth	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0000212	HP:0000212	Gingival overgrowth	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0000212	HP:0000212	Gingival overgrowth	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0000212	HP:0000212	Gingival overgrowth	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000212	HP:0000212	Gingival overgrowth	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	114
HP:0000212	HP:0000212	Gingival overgrowth	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000212	HP:0000212	Gingival overgrowth	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0000212	HP:0000212	Gingival overgrowth	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0000212	HP:0000212	Gingival overgrowth	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000212	HP:0000212	Gingival overgrowth	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0000212	HP:0000212	Gingival overgrowth	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000212	HP:0000212	Gingival overgrowth	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0000212	HP:0000212	Gingival overgrowth	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0000212	HP:0000212	Gingival overgrowth	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0000212	HP:0000212	Gingival overgrowth	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0000212	HP:0000212	Gingival overgrowth	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0000212	HP:0000212	Gingival overgrowth	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0000212	HP:0000212	Gingival overgrowth	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000212	HP:0000212	Gingival overgrowth	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000212	HP:0000212	Gingival overgrowth	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0000212	HP:0000212	Gingival overgrowth	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000212	HP:0000212	Gingival overgrowth	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000212	HP:0000212	Gingival overgrowth	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000212	HP:0000212	Gingival overgrowth	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000212	HP:0000212	Gingival overgrowth	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000212	HP:0000212	Gingival overgrowth	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0000212	HP:0000212	Gingival overgrowth	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000212	HP:0000212	Gingival overgrowth	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000212	HP:0000212	Gingival overgrowth	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000212	HP:0000212	Gingival overgrowth	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000212	HP:0000212	Gingival overgrowth	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0000212	HP:0000212	Gingival overgrowth	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000212	HP:0000212	Gingival overgrowth	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0000212	HP:0000212	Gingival overgrowth	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000212	HP:0000212	Gingival overgrowth	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000212	HP:0000212	Gingival overgrowth	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000212	HP:0000212	Gingival overgrowth	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000212	HP:0000212	Gingival overgrowth	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.	2
HP:0000212	HP:0000212	Gingival overgrowth	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0000212	HP:0000212	Gingival overgrowth	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000212	HP:0000212	Gingival overgrowth	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040284 - Very rare	43
HP:0000212	HP:0000212	Gingival overgrowth	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0000212	HP:0000212	Gingival overgrowth	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000212	HP:0000212	Gingival overgrowth	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040283 - Occasional	40
HP:0000212	HP:0000212	Gingival overgrowth	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0000212	HP:0000212	Gingival overgrowth	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0000212	HP:0000212	Gingival overgrowth	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000212	HP:0000212	Gingival overgrowth	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000212	HP:0000212	Gingival overgrowth	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0000212	HP:0000212	Gingival overgrowth	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000212	HP:0000212	Gingival overgrowth	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000212	HP:0000212	Gingival overgrowth	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000212	HP:0000212	Gingival overgrowth	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000212	HP:0000212	Gingival overgrowth	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000212	HP:0000212	Gingival overgrowth	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040282 - Frequent	11
HP:0000212	HP:0000212	Gingival overgrowth	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0000212	HP:0000212	Gingival overgrowth	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0000212	HP:0000212	Gingival overgrowth	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0000212	HP:0000212	Gingival overgrowth	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0000212	HP:0000212	Gingival overgrowth	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000212	HP:0000212	Gingival overgrowth	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0000212	HP:0000212	Gingival overgrowth	0	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent	7
HP:0000212	HP:0000212	Gingival overgrowth	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0000212	HP:0000212	Gingival overgrowth	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0000212	HP:0000212	Gingival overgrowth	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0000212	HP:0000212	Gingival overgrowth	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000212	HP:0000212	Gingival overgrowth	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000212	HP:0000212	Gingival overgrowth	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000212	HP:0000212	Gingival overgrowth	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000212	HP:0000212	Gingival overgrowth	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000212	HP:0000212	Gingival overgrowth	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0000212	HP:0000212	Gingival overgrowth	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0000212	HP:0000212	Gingival overgrowth	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0000212	HP:0000212	Gingival overgrowth	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0000212	HP:0000212	Gingival overgrowth	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000212	HP:0000212	Gingival overgrowth	0	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent	315
HP:0000212	HP:0000212	Gingival overgrowth	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0000212	HP:0000212	Gingival overgrowth	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0000212	HP:0000212	Gingival overgrowth	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000212	HP:0000212	Gingival overgrowth	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0000212	HP:0000212	Gingival overgrowth	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000212	HP:0000212	Gingival overgrowth	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000212	HP:0000212	Gingival overgrowth	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0000212	HP:0000212	Gingival overgrowth	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000212	HP:0000212	Gingival overgrowth	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000212	HP:0000212	Gingival overgrowth	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000212	HP:0000212	Gingival overgrowth	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000212	HP:0000212	Gingival overgrowth	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000212	HP:0000212	Gingival overgrowth	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000212	HP:0000212	Gingival overgrowth	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000212	HP:0000212	Gingival overgrowth	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000212	HP:0000212	Gingival overgrowth	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0000212	HP:0000212	Gingival overgrowth	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000212	HP:0000212	Gingival overgrowth	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000212	HP:0000212	Gingival overgrowth	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1

Genes (123) :ABCA5 ABCC9 ADAMTS2 ADAMTS3 AFF3 AGA AIMP2 ANTXR2 ASXL3 ATG7 ATP6V1B2 BAZ1B BCL7B BCOR BUD23 C1R C1S CCBE1 CD96 CLIP2 CNTNAP1 COL3A1 DDR2 DHCR7 DNAJC30 DVL1 DVL3 EIF4H ELN EMC1 EXTL3 FAM20A FAM20C FAT4 FBXO28 FGF3 FGFR2 FIP1L1 FKBP6 FZD2 GLB1 GNAQ GNPTAB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HIVEP2 HYMAI IDS IDUA IER3IP1 INSR IRF2BP2 KCNH1 KCNJ6 KCNK4 KCNMA1 KCNN3 KIF1A KIF7 LBR LIMK1 LMNB1 MAN2B1 MAP1B METTL27 MGAT2 MLXIPL MMP14 MMP2 MYSM1 NABP1 NCF1 NEU1 NFIX NPM1 NUMA1 NXN OSTM1 PIGA PIGN PIGS PLAGL1 PLG PML PRKAR1A PRMT7 RALGAPA1 RARA REST RFC2 RIN2 RMRP ROR2 SATB2 SC5D SH3PXD2B SLC17A5 SLC29A3 SLC35C1 SOS1 STAT3 STAT5B STX1A TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TMCO1 TMEM270 TRIM8 TWIST2 USP9X VPS13B VPS37D WNT5A ZBTB16 ZEB2 ZNHIT3

Diseases (109) :ORPHA:2026 OMIM:239850 OMIM:225410 ORPHA:2136 OMIM:619297 ORPHA:93 OMIM:618006 OMIM:228600 ORPHA:2176 ORPHA:2028 OMIM:615485 OMIM:619422 ORPHA:79500 OMIM:616455 ORPHA:904 ORPHA:520 ORPHA:75392 OMIM:235510 ORPHA:1308 OMIM:618186 ORPHA:286 OMIM:618175 ORPHA:818 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:616875 ORPHA:480898 ORPHA:508533 ORPHA:1031 OMIM:204690 ORPHA:1832 OMIM:259775 OMIM:619777 ORPHA:2791 OMIM:614592 ORPHA:313855 ORPHA:79255 OMIM:230500 OMIM:230600 ORPHA:3205 OMIM:252500 ORPHA:576 OMIM:312870 OMIM:253220 OMIM:616977 ORPHA:96191 ORPHA:217093 ORPHA:217085 OMIM:607014 OMIM:614231 OMIM:246200 ORPHA:769 ORPHA:420561 OMIM:135500 ORPHA:435628 OMIM:618381 OMIM:618729 OMIM:618658 ORPHA:2836 OMIM:200990 OMIM:169400 OMIM:619179 OMIM:248500 OMIM:618918 OMIM:212066 OMIM:277950 OMIM:259600 ORPHA:508542 ORPHA:93400 ORPHA:93399 OMIM:602535 ORPHA:561 OMIM:614753 ORPHA:1507 OMIM:618529 OMIM:259720 OMIM:300868 OMIM:301072 ORPHA:280633 OMIM:618143 ORPHA:722 OMIM:217090 ORPHA:464288 OMIM:618797 ORPHA:2024 OMIM:613075 ORPHA:217335 ORPHA:175 OMIM:268310 OMIM:612313 ORPHA:46059 OMIM:607330 ORPHA:137834 OMIM:249420 OMIM:269920 ORPHA:168569 ORPHA:99843 OMIM:220500 OMIM:619323 OMIM:616900 OMIM:213980 OMIM:619428 OMIM:209885 ORPHA:480880 ORPHA:193 ORPHA:261552 ORPHA:261537

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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