Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
..Starting node
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Abnormality of the gingiva (HP:0000168)help
Term ID: 168
Name: Abnormality of the gingiva
Synonym: Abnormality of the gums; Gingival abnormality
Definition: Any abnormality of the gingiva (also known as gums).
Comments:
Reference: HP:0000168
Genes and Diseases:
 
       Child Nodes:
........expandGingival fibromatosis (HP:0000169) help
........expandGingival overgrowth (HP:0000212) help
........expandGingival hyperkeratosis (HP:0000222) help
........expandGingival bleeding (HP:0000225) help
........expandGingivitis (HP:0000230) help
........expandPeriodontitis (HP:0000704) help
................... HP:0000166 Severe periodontitis
................... HP:0011058 Generalized periodontitis
................... HP:0011059 Localized periodontitis
........expandFusion of gums (HP:0012292) help
........expandGingival calcification (HP:0025141) help
........expandGingival cleft (HP:0030690) help
........expandGingival recession (HP:0030816) help

 Sister Nodes: 
..expandAbnormal pigmentation of the oral mucosa (HP:0100669) help
..expandEnanthema (HP:0030249) help
..expandErosion of oral mucosa (HP:0031446) help
..expandOral cavity telangiectasia (HP:0000228) help
..expandOral erythroplakia (HP:0030934) help
..expandOral lichenoid lesion (HP:0031453) help
..expandOral mucosa nodule (HP:0031445) help
..expandOral mucosal blisters (HP:0200097) help
..expandOral synechia (HP:0010285) help
..expandOral ulcer (HP:0000155) help
..expandStomatitis (HP:0010280) help
..expandWhite lesion of the oral mucosa (HP:0025125) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000168HP:0000168Abnormality of the gingiva0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia1
HP:0000168HP:0000168Abnormality of the gingiva0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0000168HP:0000168Abnormality of the gingiva0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000168HP:0000168Abnormality of the gingiva0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000168HP:0000168Abnormality of the gingiva0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000168HP:0000168Abnormality of the gingiva0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000168HP:0000168Abnormality of the gingiva0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0000168HP:0000168Abnormality of the gingiva0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000168HP:0000168Abnormality of the gingiva0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000168HP:0000168Abnormality of the gingiva0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0000168HP:0000168Abnormality of the gingiva0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0000168HP:0000168Abnormality of the gingiva0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosis49
HP:0000168HP:0000168Abnormality of the gingiva0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000168HP:0000168Abnormality of the gingiva0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000168HP:0000168Abnormality of the gingiva0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000168HP:0000168Abnormality of the gingiva0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000168HP:0000168Abnormality of the gingiva0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000168HP:0000168Abnormality of the gingiva0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000168HP:0000168Abnormality of the gingiva0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0000168HP:0000168Abnormality of the gingiva0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0000168HP:0000168Abnormality of the gingiva0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0000168HP:0000168Abnormality of the gingiva0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000168HP:0000168Abnormality of the gingiva0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0000168HP:0000168Abnormality of the gingiva0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0000168HP:0000168Abnormality of the gingiva0C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 27
HP:0000168HP:0000168Abnormality of the gingiva0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0000168HP:0000168Abnormality of the gingiva0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0000168HP:0000168Abnormality of the gingiva0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000168HP:0000168Abnormality of the gingiva0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0000168HP:0000168Abnormality of the gingiva0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0000168HP:0000168Abnormality of the gingiva0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000168HP:0000168Abnormality of the gingiva0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000168HP:0000168Abnormality of the gingiva0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000168HP:0000168Abnormality of the gingiva0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000168HP:0000168Abnormality of the gingiva0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000168HP:0000168Abnormality of the gingiva0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0000168HP:0000168Abnormality of the gingiva0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0000168HP:0000168Abnormality of the gingiva0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0000168HP:0000168Abnormality of the gingiva0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000168HP:0000168Abnormality of the gingiva0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0000168HP:0000168Abnormality of the gingiva0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000168HP:0000168Abnormality of the gingiva0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000168HP:0000168Abnormality of the gingiva0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000168HP:0000168Abnormality of the gingiva0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000168HP:0000168Abnormality of the gingiva0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0000168HP:0000168Abnormality of the gingiva0CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 150
HP:0000168HP:0000168Abnormality of the gingiva0CXCR4 CL E G H78522561ORPHA:51636WHIM syndrome9
HP:0000168HP:0000168Abnormality of the gingiva0CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0000168HP:0000168Abnormality of the gingiva0CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0000168HP:0000168Abnormality of the gingiva0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0000168HP:0000168Abnormality of the gingiva0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000168HP:0000168Abnormality of the gingiva0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000168HP:0000168Abnormality of the gingiva0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000168HP:0000168Abnormality of the gingiva0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000168HP:0000168Abnormality of the gingiva0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0000168HP:0000168Abnormality of the gingiva0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000168HP:0000168Abnormality of the gingiva0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000168HP:0000168Abnormality of the gingiva0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000168HP:0000168Abnormality of the gingiva0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000168HP:0000168Abnormality of the gingiva0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000168HP:0000168Abnormality of the gingiva0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0000168HP:0000168Abnormality of the gingiva0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0000168HP:0000168Abnormality of the gingiva0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0000168HP:0000168Abnormality of the gingiva0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndrome3
HP:0000168HP:0000168Abnormality of the gingiva0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous3
HP:0000168HP:0000168Abnormality of the gingiva0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000168HP:0000168Abnormality of the gingiva0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000168HP:0000168Abnormality of the gingiva0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0000168HP:0000168Abnormality of the gingiva0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0000168HP:0000168Abnormality of the gingiva0F10 CL E G H21593528ORPHA:328Congenital factor X deficiency33
HP:0000168HP:0000168Abnormality of the gingiva0F10 CL E G H21593528OMIM:227600Factor X deficiency33
HP:0000168HP:0000168Abnormality of the gingiva0F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0000168HP:0000168Abnormality of the gingiva0F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of60
HP:0000168HP:0000168Abnormality of the gingiva0F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0000168HP:0000168Abnormality of the gingiva0F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0000168HP:0000168Abnormality of the gingiva0F5 CL E G H21533542ORPHA:326Congenital factor V deficiency159
HP:0000168HP:0000168Abnormality of the gingiva0F7 CL E G H21553544ORPHA:327Congenital factor VII deficiency70
HP:0000168HP:0000168Abnormality of the gingiva0F8 CL E G H21573546ORPHA:169805Moderate hemophilia A303
HP:0000168HP:0000168Abnormality of the gingiva0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0000168HP:0000168Abnormality of the gingiva0FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndrome16
HP:0000168HP:0000168Abnormality of the gingiva0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0000168HP:0000168Abnormality of the gingiva0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0000168HP:0000168Abnormality of the gingiva0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0000168HP:0000168Abnormality of the gingiva0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000168HP:0000168Abnormality of the gingiva0FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopenia
HP:0000168HP:0000168Abnormality of the gingiva0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0000168HP:0000168Abnormality of the gingiva0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000168HP:0000168Abnormality of the gingiva0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0000168HP:0000168Abnormality of the gingiva0FGA CL E G H22433661ORPHA:98880Familial afibrinogenemia47
HP:0000168HP:0000168Abnormality of the gingiva0FGA CL E G H22433661ORPHA:98881Familial dysfibrinogenemia47
HP:0000168HP:0000168Abnormality of the gingiva0FGA CL E G H22433661ORPHA:101041Familial hypofibrinogenemia47
HP:0000168HP:0000168Abnormality of the gingiva0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0000168HP:0000168Abnormality of the gingiva0FGB CL E G H22443662ORPHA:98880Familial afibrinogenemia62
HP:0000168HP:0000168Abnormality of the gingiva0FGB CL E G H22443662ORPHA:98881Familial dysfibrinogenemia62
HP:0000168HP:0000168Abnormality of the gingiva0FGB CL E G H22443662ORPHA:101041Familial hypofibrinogenemia62
HP:0000168HP:0000168Abnormality of the gingiva0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0000168HP:0000168Abnormality of the gingiva0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0000168HP:0000168Abnormality of the gingiva0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0000168HP:0000168Abnormality of the gingiva0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0000168HP:0000168Abnormality of the gingiva0FGG CL E G H22663694ORPHA:98880Familial afibrinogenemia34
HP:0000168HP:0000168Abnormality of the gingiva0FGG CL E G H22663694ORPHA:98881Familial dysfibrinogenemia34
HP:0000168HP:0000168Abnormality of the gingiva0FGG CL E G H22663694ORPHA:101041Familial hypofibrinogenemia34
HP:0000168HP:0000168Abnormality of the gingiva0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000168HP:0000168Abnormality of the gingiva0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0000168HP:0000168Abnormality of the gingiva0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000168HP:0000168Abnormality of the gingiva0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1
HP:0000168HP:0000168Abnormality of the gingiva0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0000168HP:0000168Abnormality of the gingiva0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000168HP:0000168Abnormality of the gingiva0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000168HP:0000168Abnormality of the gingiva0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0000168HP:0000168Abnormality of the gingiva0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0000168HP:0000168Abnormality of the gingiva0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0000168HP:0000168Abnormality of the gingiva0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0000168HP:0000168Abnormality of the gingiva0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000168HP:0000168Abnormality of the gingiva0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0000168HP:0000168Abnormality of the gingiva0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0000168HP:0000168Abnormality of the gingiva0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0000168HP:0000168Abnormality of the gingiva0GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant23
HP:0000168HP:0000168Abnormality of the gingiva0GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0000168HP:0000168Abnormality of the gingiva0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0000168HP:0000168Abnormality of the gingiva0GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0000168HP:0000168Abnormality of the gingiva0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0000168HP:0000168Abnormality of the gingiva0GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0000168HP:0000168Abnormality of the gingiva0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000168HP:0000168Abnormality of the gingiva0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000168HP:0000168Abnormality of the gingiva0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0000168HP:0000168Abnormality of the gingiva0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000168HP:0000168Abnormality of the gingiva0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0000168HP:0000168Abnormality of the gingiva0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000168HP:0000168Abnormality of the gingiva0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0000168HP:0000168Abnormality of the gingiva0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000168HP:0000168Abnormality of the gingiva0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0000168HP:0000168Abnormality of the gingiva0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0000168HP:0000168Abnormality of the gingiva0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000168HP:0000168Abnormality of the gingiva0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome6
HP:0000168HP:0000168Abnormality of the gingiva0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemia23
HP:0000168HP:0000168Abnormality of the gingiva0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000168HP:0000168Abnormality of the gingiva0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000168HP:0000168Abnormality of the gingiva0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0000168HP:0000168Abnormality of the gingiva0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0000168HP:0000168Abnormality of the gingiva0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0000168HP:0000168Abnormality of the gingiva0IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000168HP:0000168Abnormality of the gingiva0ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombasthenia69
HP:0000168HP:0000168Abnormality of the gingiva0ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0000168HP:0000168Abnormality of the gingiva0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0000168HP:0000168Abnormality of the gingiva0ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombasthenia80
HP:0000168HP:0000168Abnormality of the gingiva0JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0000168HP:0000168Abnormality of the gingiva0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0000168HP:0000168Abnormality of the gingiva0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000168HP:0000168Abnormality of the gingiva0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000168HP:0000168Abnormality of the gingiva0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0000168HP:0000168Abnormality of the gingiva0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000168HP:0000168Abnormality of the gingiva0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000168HP:0000168Abnormality of the gingiva0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000168HP:0000168Abnormality of the gingiva0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000168HP:0000168Abnormality of the gingiva0KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0000168HP:0000168Abnormality of the gingiva0KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type III1
HP:0000168HP:0000168Abnormality of the gingiva0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000168HP:0000168Abnormality of the gingiva0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0000168HP:0000168Abnormality of the gingiva0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0000168HP:0000168Abnormality of the gingiva0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000168HP:0000168Abnormality of the gingiva0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0LMAN1 CL E G H39986631ORPHA:35909Combined deficiency of factor V and factor VIII56
HP:0000168HP:0000168Abnormality of the gingiva0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000168HP:0000168Abnormality of the gingiva0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0000168HP:0000168Abnormality of the gingiva0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0000168HP:0000168Abnormality of the gingiva0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0000168HP:0000168Abnormality of the gingiva0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0000168HP:0000168Abnormality of the gingiva0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000168HP:0000168Abnormality of the gingiva0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional22
HP:0000168HP:0000168Abnormality of the gingiva0MCFD2 CL E G H9041118451ORPHA:35909Combined deficiency of factor V and factor VIII77
HP:0000168HP:0000168Abnormality of the gingiva0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000168HP:0000168Abnormality of the gingiva0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0000168HP:0000168Abnormality of the gingiva0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000168HP:0000168Abnormality of the gingiva0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000168HP:0000168Abnormality of the gingiva0MMP14 CL E G H43237160OMIM:277950Winchester syndrome2
HP:0000168HP:0000168Abnormality of the gingiva0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000168HP:0000168Abnormality of the gingiva0MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0000168HP:0000168Abnormality of the gingiva0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0000168HP:0000168Abnormality of the gingiva0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0000168HP:0000168Abnormality of the gingiva0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0000168HP:0000168Abnormality of the gingiva0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0000168HP:0000168Abnormality of the gingiva0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000168HP:0000168Abnormality of the gingiva0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0000168HP:0000168Abnormality of the gingiva0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0000168HP:0000168Abnormality of the gingiva0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0000168HP:0000168Abnormality of the gingiva0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0000168HP:0000168Abnormality of the gingiva0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000168HP:0000168Abnormality of the gingiva0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0000168HP:0000168Abnormality of the gingiva0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0000168HP:0000168Abnormality of the gingiva0NGF CL E G H48037808ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent20
HP:0000168HP:0000168Abnormality of the gingiva0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0000168HP:0000168Abnormality of the gingiva0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0000168HP:0000168Abnormality of the gingiva0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000168HP:0000168Abnormality of the gingiva0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosis144
HP:0000168HP:0000168Abnormality of the gingiva0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0000168HP:0000168Abnormality of the gingiva0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0000168HP:0000168Abnormality of the gingiva0NTRK1 CL E G H49148031ORPHA:64752Hereditary sensory and autonomic neuropathy type 5HP:0040282 - Frequent97
HP:0000168HP:0000168Abnormality of the gingiva0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0000168HP:0000168Abnormality of the gingiva0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000168HP:0000168Abnormality of the gingiva0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 22
HP:0000168HP:0000168Abnormality of the gingiva0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000168HP:0000168Abnormality of the gingiva0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000168HP:0000168Abnormality of the gingiva0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0000168HP:0000168Abnormality of the gingiva0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosis28
HP:0000168HP:0000168Abnormality of the gingiva0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional
HP:0000168HP:0000168Abnormality of the gingiva0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0000168HP:0000168Abnormality of the gingiva0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000168HP:0000168Abnormality of the gingiva0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000168HP:0000168Abnormality of the gingiva0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000168HP:0000168Abnormality of the gingiva0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000168HP:0000168Abnormality of the gingiva0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0000168HP:0000168Abnormality of the gingiva0PLG CL E G H53409071ORPHA:722Hypoplasminogenemia11
HP:0000168HP:0000168Abnormality of the gingiva0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0000168HP:0000168Abnormality of the gingiva0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0000168HP:0000168Abnormality of the gingiva0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemia58
HP:0000168HP:0000168Abnormality of the gingiva0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0000168HP:0000168Abnormality of the gingiva0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0000168HP:0000168Abnormality of the gingiva0RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type III
HP:0000168HP:0000168Abnormality of the gingiva0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000168HP:0000168Abnormality of the gingiva0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0000168HP:0000168Abnormality of the gingiva0REST CL E G H59789966OMIM:617626Fibromatosis, gingival, 57
HP:0000168HP:0000168Abnormality of the gingiva0REST CL E G H59789966ORPHA:2024Hereditary gingival fibromatosis7
HP:0000168HP:0000168Abnormality of the gingiva0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000168HP:0000168Abnormality of the gingiva0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000168HP:0000168Abnormality of the gingiva0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0000168HP:0000168Abnormality of the gingiva0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000168HP:0000168Abnormality of the gingiva0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000168HP:0000168Abnormality of the gingiva0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0000168HP:0000168Abnormality of the gingiva0SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial8
HP:0000168HP:0000168Abnormality of the gingiva0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000168HP:0000168Abnormality of the gingiva0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemia26
HP:0000168HP:0000168Abnormality of the gingiva0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0000168HP:0000168Abnormality of the gingiva0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000168HP:0000168Abnormality of the gingiva0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 177
HP:0000168HP:0000168Abnormality of the gingiva0SERPINF2 CL E G H53459075ORPHA:79Congenital alpha2-antiplasmin deficiency8
HP:0000168HP:0000168Abnormality of the gingiva0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000168HP:0000168Abnormality of the gingiva0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000168HP:0000168Abnormality of the gingiva0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0000168HP:0000168Abnormality of the gingiva0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease78
HP:0000168HP:0000168Abnormality of the gingiva0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0000168HP:0000168Abnormality of the gingiva0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000168HP:0000168Abnormality of the gingiva0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000168HP:0000168Abnormality of the gingiva0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000168HP:0000168Abnormality of the gingiva0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup disease12
HP:0000168HP:0000168Abnormality of the gingiva0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0000168HP:0000168Abnormality of the gingiva0SOS1 CL E G H665411187OMIM:135300Fibromatosis, gingival, 1315
HP:0000168HP:0000168Abnormality of the gingiva0SOS1 CL E G H665411187ORPHA:2024Hereditary gingival fibromatosis315
HP:0000168HP:0000168Abnormality of the gingiva0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0000168HP:0000168Abnormality of the gingiva0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0000168HP:0000168Abnormality of the gingiva0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0000168HP:0000168Abnormality of the gingiva0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0000168HP:0000168Abnormality of the gingiva0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000168HP:0000168Abnormality of the gingiva0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000168HP:0000168Abnormality of the gingiva0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000168HP:0000168Abnormality of the gingiva0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000168HP:0000168Abnormality of the gingiva0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0000168HP:0000168Abnormality of the gingiva0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0000168HP:0000168Abnormality of the gingiva0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000168HP:0000168Abnormality of the gingiva0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0000168HP:0000168Abnormality of the gingiva0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemia48
HP:0000168HP:0000168Abnormality of the gingiva0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0000168HP:0000168Abnormality of the gingiva0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemia238
HP:0000168HP:0000168Abnormality of the gingiva0TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0000168HP:0000168Abnormality of the gingiva0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0000168HP:0000168Abnormality of the gingiva0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000168HP:0000168Abnormality of the gingiva0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000168HP:0000168Abnormality of the gingiva0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional151
HP:0000168HP:0000168Abnormality of the gingiva0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000168HP:0000168Abnormality of the gingiva0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000168HP:0000168Abnormality of the gingiva0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000168HP:0000168Abnormality of the gingiva0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0000168HP:0000168Abnormality of the gingiva0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0000168HP:0000168Abnormality of the gingiva0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0000168HP:0000168Abnormality of the gingiva0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000168HP:0000168Abnormality of the gingiva0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000168HP:0000168Abnormality of the gingiva0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000168HP:0000168Abnormality of the gingiva0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0000168HP:0000168Abnormality of the gingiva0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0000168HP:0000168Abnormality of the gingiva0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0000168HP:0000168Abnormality of the gingiva0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0000168HP:0000168Abnormality of the gingiva0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000168HP:0000168Abnormality of the gingiva0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000168HP:0000168Abnormality of the gingiva0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0000168HP:0000168Abnormality of the gingiva0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0000168HP:0000168Abnormality of the gingiva0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000168HP:0000168Abnormality of the gingiva0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000168HP:0000168Abnormality of the gingiva0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0000168HP:0025141Gingival calcification1 CL E G H
HP:0000168HP:0012292Fusion of gums1 CL E G H
HP:0000168HP:0000212Gingival overgrowth1ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040282 - Frequent1
HP:0000168HP:0000169Gingival fibromatosis1ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040281 - Very frequent1
HP:0000168HP:0000169Gingival fibromatosis1ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0000168HP:0000212Gingival overgrowth1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000168HP:0000225Gingival bleeding1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000168HP:0000222Gingival hyperkeratosis1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000168HP:0000212Gingival overgrowth1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000168HP:0000212Gingival overgrowth1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0000168HP:0000704Periodontitis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000168HP:0000212Gingival overgrowth1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0000168HP:0000212Gingival overgrowth1AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0000168HP:0000230Gingivitis1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000168HP:0000230Gingivitis1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000168HP:0000212Gingival overgrowth1ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0000168HP:0000169Gingival fibromatosis1ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0000168HP:0000212Gingival overgrowth1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000168HP:0000169Gingival fibromatosis1ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040283 - Occasional49
HP:0000168HP:0000212Gingival overgrowth1ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040283 - Occasional49
HP:0000168HP:0000704Periodontitis1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000168HP:0000212Gingival overgrowth1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000168HP:0000212Gingival overgrowth1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000168HP:0000212Gingival overgrowth1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0000168HP:0000169Gingival fibromatosis1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040280 - Obligate5
HP:0000168HP:0000212Gingival overgrowth1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0000168HP:0000230Gingivitis1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0000168HP:0000212Gingival overgrowth1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000225Gingival bleeding1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0000168HP:0000212Gingival overgrowth1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional101
HP:0000168HP:0000225Gingival bleeding1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000168HP:0000225Gingival bleeding1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000168HP:0000212Gingival overgrowth1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0030816Gingival recession1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000168HP:0000225Gingival bleeding1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000168HP:0000704Periodontitis1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000168HP:0000212Gingival overgrowth1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040282 - Frequent15
HP:0000168HP:0000704Periodontitis1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0000168HP:0000704Periodontitis1C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 2.7
HP:0000168HP:0000225Gingival bleeding1C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 2HP:0040283 - Occasional7
HP:0000168HP:0000704Periodontitis1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0000168HP:0000212Gingival overgrowth1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040282 - Frequent7
HP:0000168HP:0000230Gingivitis1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040283 - Occasional5
HP:0000168HP:0000225Gingival bleeding1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040283 - Occasional5
HP:0000168HP:0000704Periodontitis1CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0000168HP:0000212Gingival overgrowth1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000168HP:0000212Gingival overgrowth1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0000168HP:0000230Gingivitis1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0000168HP:0000212Gingival overgrowth1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000168HP:0000169Gingival fibromatosis1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0000168HP:0000169Gingival fibromatosis1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0000168HP:0000169Gingival fibromatosis1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0000168HP:0000169Gingival fibromatosis1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000230Gingivitis1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0000168HP:0000704Periodontitis1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0000168HP:0000230Gingivitis1CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000168HP:0000704Periodontitis1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0000168HP:0030816Gingival recession1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0000168HP:0000230Gingivitis1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000168HP:0000212Gingival overgrowth1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000168HP:0000704Periodontitis1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000168HP:0000704Periodontitis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0000168HP:0000704Periodontitis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000168HP:0000704Periodontitis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000168HP:0000230Gingivitis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000168HP:0000704Periodontitis1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0000168HP:0000704Periodontitis1CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 150
HP:0000168HP:0030816Gingival recession1CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 1.50
HP:0000168HP:0000704Periodontitis1CXCR4 CL E G H78522561ORPHA:51636WHIM syndrome9
HP:0000168HP:0000230Gingivitis1CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0000168HP:0000230Gingivitis1CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0000168HP:0000230Gingivitis1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000168HP:0000169Gingival fibromatosis1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000168HP:0000212Gingival overgrowth1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000168HP:0000704Periodontitis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0000168HP:0000212Gingival overgrowth1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0030816Gingival recession1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0000168HP:0000212Gingival overgrowth1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000168HP:0000212Gingival overgrowth1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000168HP:0000212Gingival overgrowth1DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000168HP:0000212Gingival overgrowth1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000168HP:0000212Gingival overgrowth1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000168HP:0000212Gingival overgrowth1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000230Gingivitis1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0000168HP:0000704Periodontitis1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0000168HP:0000230Gingivitis1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0000168HP:0000704Periodontitis1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0000168HP:0000169Gingival fibromatosis1ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040281 - Very frequent3
HP:0000168HP:0000225Gingival bleeding1ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous.3
HP:0000168HP:0000212Gingival overgrowth1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000168HP:0000212Gingival overgrowth1EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000168HP:0000212Gingival overgrowth1EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0000168HP:0000212Gingival overgrowth1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000168HP:0000225Gingival bleeding1F10 CL E G H21593528ORPHA:328Congenital factor X deficiencyHP:0040282 - Frequent33
HP:0000168HP:0000225Gingival bleeding1F10 CL E G H21593528OMIM:227600Factor X deficiency.33
HP:0000168HP:0000225Gingival bleeding1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040283 - Occasional60
HP:0000168HP:0000225Gingival bleeding1F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of60
HP:0000168HP:0000225Gingival bleeding1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040283 - Occasional32
HP:0000168HP:0000225Gingival bleeding1F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency.44
HP:0000168HP:0000225Gingival bleeding1F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040283 - Occasional159
HP:0000168HP:0000225Gingival bleeding1F7 CL E G H21553544ORPHA:327Congenital factor VII deficiencyHP:0040282 - Frequent70
HP:0000168HP:0000225Gingival bleeding1F8 CL E G H21573546ORPHA:169805Moderate hemophilia AHP:0040282 - Frequent303
HP:0000168HP:0000169Gingival fibromatosis1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0000168HP:0000212Gingival overgrowth1FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:0000168HP:0000212Gingival overgrowth1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000168HP:0000212Gingival overgrowth1FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040282 - Frequent35
HP:0000168HP:0000169Gingival fibromatosis1FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040282 - Frequent35
HP:0000168HP:0000212Gingival overgrowth1FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000168HP:0000212Gingival overgrowth1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0000168HP:0000212Gingival overgrowth1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000168HP:0000225Gingival bleeding1FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopeniaHP:0040283 - Occasional
HP:0000168HP:0000704Periodontitis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0000168HP:0000230Gingivitis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0000168HP:0000704Periodontitis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome.136
HP:0000168HP:0000230Gingivitis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000168HP:0000225Gingival bleeding1FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0000168HP:0000225Gingival bleeding1FGA CL E G H22433661ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent47
HP:0000168HP:0000225Gingival bleeding1FGA CL E G H22433661ORPHA:98881Familial dysfibrinogenemiaHP:0040281 - Very frequent47
HP:0000168HP:0000225Gingival bleeding1FGA CL E G H22433661ORPHA:101041Familial hypofibrinogenemiaHP:0040281 - Very frequent47
HP:0000168HP:0000225Gingival bleeding1FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0000168HP:0000225Gingival bleeding1FGB CL E G H22443662ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent62
HP:0000168HP:0000225Gingival bleeding1FGB CL E G H22443662ORPHA:98881Familial dysfibrinogenemiaHP:0040281 - Very frequent62
HP:0000168HP:0000225Gingival bleeding1FGB CL E G H22443662ORPHA:101041Familial hypofibrinogenemiaHP:0040281 - Very frequent62
HP:0000168HP:0000212Gingival overgrowth1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000168HP:0000704Periodontitis1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000168HP:0000212Gingival overgrowth1FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0000168HP:0000212Gingival overgrowth1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0000168HP:0000225Gingival bleeding1FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0000168HP:0000225Gingival bleeding1FGG CL E G H22663694ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent34
HP:0000168HP:0000225Gingival bleeding1FGG CL E G H22663694ORPHA:98881Familial dysfibrinogenemiaHP:0040281 - Very frequent34
HP:0000168HP:0000225Gingival bleeding1FGG CL E G H22663694ORPHA:101041Familial hypofibrinogenemiaHP:0040281 - Very frequent34
HP:0000168HP:0030816Gingival recession1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000168HP:0000225Gingival bleeding1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0000168HP:0000212Gingival overgrowth1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0000168HP:0000212Gingival overgrowth1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000168HP:0000225Gingival bleeding1GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent
HP:0000168HP:0000230Gingivitis1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0000168HP:0000704Periodontitis1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0000168HP:0000230Gingivitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000168HP:0000230Gingivitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000168HP:0000212Gingival overgrowth1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0000168HP:0000212Gingival overgrowth1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0000168HP:0000212Gingival overgrowth1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0000168HP:0000212Gingival overgrowth1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000168HP:0000212Gingival overgrowth1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000168HP:0000212Gingival overgrowth1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0000168HP:0000704Periodontitis1GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000168HP:0000225Gingival bleeding1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional23
HP:0000168HP:0000225Gingival bleeding1GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0000168HP:0000225Gingival bleeding1GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0000168HP:0000225Gingival bleeding1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional8
HP:0000168HP:0000225Gingival bleeding1GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0000168HP:0000225Gingival bleeding1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional21
HP:0000168HP:0000225Gingival bleeding1GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0000168HP:0000212Gingival overgrowth1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000168HP:0000212Gingival overgrowth1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000168HP:0000212Gingival overgrowth1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0000168HP:0000212Gingival overgrowth1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000168HP:0000225Gingival bleeding1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0000168HP:0000225Gingival bleeding1HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000168HP:0030690Gingival cleft1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0000168HP:0000212Gingival overgrowth1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000168HP:0000212Gingival overgrowth1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0000168HP:0000212Gingival overgrowth1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0000168HP:0000212Gingival overgrowth1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0000168HP:0000212Gingival overgrowth1IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndromeHP:0040283 - Occasional6
HP:0000168HP:0000225Gingival bleeding1IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional23
HP:0000168HP:0000169Gingival fibromatosis1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0000168HP:0000225Gingival bleeding1IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000168HP:0000212Gingival overgrowth1INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000168HP:0000212Gingival overgrowth1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000168HP:0000225Gingival bleeding1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0000168HP:0000212Gingival overgrowth1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0000168HP:0000230Gingivitis1IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0000168HP:0000225Gingival bleeding1ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia.69
HP:0000168HP:0000225Gingival bleeding1ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombastheniaHP:0040282 - Frequent69
HP:0000168HP:0000704Periodontitis1ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I.114
HP:0000168HP:0000230Gingivitis1ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0000168HP:0000225Gingival bleeding1ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombastheniaHP:0040282 - Frequent80
HP:0000168HP:0000225Gingival bleeding1JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0000168HP:0000212Gingival overgrowth1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0000168HP:0000169Gingival fibromatosis1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040280 - Obligate13
HP:0000168HP:0000169Gingival fibromatosis1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000168HP:0000212Gingival overgrowth1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000168HP:0000212Gingival overgrowth1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0000168HP:0000212Gingival overgrowth1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000168HP:0000212Gingival overgrowth1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000168HP:0000169Gingival fibromatosis1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040280 - Obligate7
HP:0000168HP:0000212Gingival overgrowth1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000168HP:0000212Gingival overgrowth1KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040282 - Frequent276
HP:0000168HP:0000225Gingival bleeding1KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000168HP:0030690Gingival cleft1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0000168HP:0000230Gingivitis1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0000168HP:0000212Gingival overgrowth1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000168HP:0000212Gingival overgrowth1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000225Gingival bleeding1LMAN1 CL E G H39986631ORPHA:35909Combined deficiency of factor V and factor VIIIHP:0040282 - Frequent56
HP:0000168HP:0000212Gingival overgrowth1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000168HP:0000225Gingival bleeding1LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0000168HP:0000225Gingival bleeding1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000168HP:0000704Periodontitis1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0000168HP:0000704Periodontitis1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0000168HP:0000230Gingivitis1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0000168HP:0000212Gingival overgrowth1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000168HP:0000212Gingival overgrowth1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000168HP:0000225Gingival bleeding1MCFD2 CL E G H9041118451ORPHA:35909Combined deficiency of factor V and factor VIIIHP:0040282 - Frequent77
HP:0000168HP:0000169Gingival fibromatosis1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0000168HP:0000212Gingival overgrowth1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000168HP:0000704Periodontitis1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000168HP:0000212Gingival overgrowth1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000168HP:0000212Gingival overgrowth1MMP14 CL E G H43237160OMIM:277950Winchester syndrome.2
HP:0000168HP:0000212Gingival overgrowth1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000168HP:0000225Gingival bleeding1MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0000168HP:0000225Gingival bleeding1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040282 - Frequent9
HP:0000168HP:0000212Gingival overgrowth1MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0000168HP:0000225Gingival bleeding1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0000168HP:0000212Gingival overgrowth1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0000168HP:0000230Gingivitis1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0000168HP:0000212Gingival overgrowth1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000168HP:0000230Gingivitis1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0000168HP:0000230Gingivitis1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0000168HP:0000212Gingival overgrowth1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0000168HP:0000212Gingival overgrowth1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0000168HP:0000212Gingival overgrowth1NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040283 - Occasional40
HP:0000168HP:0000212Gingival overgrowth1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000168HP:0000212Gingival overgrowth1NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0000168HP:0000704Periodontitis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0000168HP:0000704Periodontitis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0000168HP:0000704Periodontitis1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0000168HP:0000169Gingival fibromatosis1NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent144
HP:0000168HP:0000212Gingival overgrowth1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0000168HP:0000225Gingival bleeding1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0000168HP:0000704Periodontitis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0000168HP:0000212Gingival overgrowth1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0000168HP:0000225Gingival bleeding1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0000168HP:0000212Gingival overgrowth1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000168HP:0000212Gingival overgrowth1NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000168HP:0000230Gingivitis1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000168HP:0000704Periodontitis1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000168HP:0000212Gingival overgrowth1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0000168HP:0000704Periodontitis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0000168HP:0000169Gingival fibromatosis1PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent28
HP:0000168HP:0000212Gingival overgrowth1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000168HP:0000212Gingival overgrowth1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000168HP:0000212Gingival overgrowth1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000168HP:0000212Gingival overgrowth1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000168HP:0000212Gingival overgrowth1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000168HP:0000230Gingivitis1PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0000168HP:0000704Periodontitis1PLG CL E G H53409071ORPHA:722HypoplasminogenemiaHP:0040283 - Occasional11
HP:0000168HP:0000212Gingival overgrowth1PLG CL E G H53409071ORPHA:722HypoplasminogenemiaHP:0040282 - Frequent11
HP:0000168HP:0000230Gingivitis1PLG CL E G H53409071ORPHA:722HypoplasminogenemiaHP:0040282 - Frequent11
HP:0000168HP:0000212Gingival overgrowth1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000168HP:0000704Periodontitis1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000168HP:0000230Gingivitis1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000168HP:0000212Gingival overgrowth1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional3
HP:0000168HP:0000225Gingival bleeding1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0000168HP:0000225Gingival bleeding1PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional58
HP:0000168HP:0000212Gingival overgrowth1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional134
HP:0000168HP:0000225Gingival bleeding1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0000168HP:0000212Gingival overgrowth1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0000168HP:0000225Gingival bleeding1RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000168HP:0000225Gingival bleeding1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0000168HP:0000212Gingival overgrowth1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional2
HP:0000168HP:0000169Gingival fibromatosis1REST CL E G H59789966OMIM:617626Fibromatosis, gingival, 5.7
HP:0000168HP:0000212Gingival overgrowth1REST CL E G H59789966ORPHA:2024Hereditary gingival fibromatosisHP:0040281 - Very frequent7
HP:0000168HP:0000169Gingival fibromatosis1REST CL E G H59789966ORPHA:2024Hereditary gingival fibromatosisHP:0040281 - Very frequent7
HP:0000168HP:0000212Gingival overgrowth1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000168HP:0000212Gingival overgrowth1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000168HP:0000212Gingival overgrowth1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0000168HP:0000212Gingival overgrowth1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000168HP:0000212Gingival overgrowth1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000168HP:0000704Periodontitis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0000168HP:0000230Gingivitis1SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial.8
HP:0000168HP:0000212Gingival overgrowth1SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000168HP:0000225Gingival bleeding1SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional26
HP:0000168HP:0000212Gingival overgrowth1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000168HP:0000212Gingival overgrowth1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000168HP:0000225Gingival bleeding1SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent77
HP:0000168HP:0000225Gingival bleeding1SERPINF2 CL E G H53459075ORPHA:79Congenital alpha2-antiplasmin deficiencyHP:0040283 - Occasional8
HP:0000168HP:0000212Gingival overgrowth1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0000168HP:0000212Gingival overgrowth1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome.134
HP:0000168HP:0000212Gingival overgrowth1SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0000168HP:0000212Gingival overgrowth1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0000168HP:0000704Periodontitis1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0000168HP:0000704Periodontitis1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0000168HP:0000212Gingival overgrowth1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000168HP:0000230Gingivitis1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000168HP:0000704Periodontitis1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000168HP:0000230Gingivitis1SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040283 - Occasional12
HP:0000168HP:0030690Gingival cleft1SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000168HP:0000169Gingival fibromatosis1SOS1 CL E G H665411187OMIM:135300Fibromatosis, gingival, 1.315
HP:0000168HP:0000212Gingival overgrowth1SOS1 CL E G H665411187ORPHA:2024Hereditary gingival fibromatosisHP:0040281 - Very frequent315
HP:0000168HP:0000169Gingival fibromatosis1SOS1 CL E G H665411187ORPHA:2024Hereditary gingival fibromatosisHP:0040281 - Very frequent315
HP:0000168HP:0000704Periodontitis1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0000168HP:0000230Gingivitis1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0000168HP:0000212Gingival overgrowth1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional110
HP:0000168HP:0000225Gingival bleeding1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0000168HP:0000230Gingivitis1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0000168HP:0000225Gingival bleeding1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0000168HP:0000212Gingival overgrowth1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0000168HP:0000212Gingival overgrowth1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000168HP:0000212Gingival overgrowth1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0000168HP:0000212Gingival overgrowth1TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000168HP:0000212Gingival overgrowth1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000168HP:0000225Gingival bleeding1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0000168HP:0000212Gingival overgrowth1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional22
HP:0000168HP:0000212Gingival overgrowth1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000230Gingivitis1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0000168HP:0000704Periodontitis1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0000168HP:0000704Periodontitis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0000168HP:0000225Gingival bleeding1TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional48
HP:0000168HP:0000704Periodontitis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0000168HP:0000225Gingival bleeding1TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional238
HP:0000168HP:0000225Gingival bleeding1TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0000168HP:0000704Periodontitis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0000168HP:0000212Gingival overgrowth1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000168HP:0000212Gingival overgrowth1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000212Gingival overgrowth1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000168HP:0000169Gingival fibromatosis1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0000168HP:0000169Gingival fibromatosis1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0000168HP:0000212Gingival overgrowth1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000168HP:0000704Periodontitis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0000168HP:0000704Periodontitis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0000168HP:0000212Gingival overgrowth1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000168HP:0030816Gingival recession1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000168HP:0000212Gingival overgrowth1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000168HP:0000212Gingival overgrowth1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000168HP:0000225Gingival bleeding1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0000168HP:0000225Gingival bleeding1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0000168HP:0000225Gingival bleeding1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0000168HP:0000212Gingival overgrowth1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000168HP:0000212Gingival overgrowth1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000168HP:0000704Periodontitis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0000168HP:0000212Gingival overgrowth1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional1
HP:0000168HP:0000225Gingival bleeding1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0000168HP:0000212Gingival overgrowth1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000168HP:0000212Gingival overgrowth1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000168HP:0000212Gingival overgrowth1ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040282 - Frequent1
HP:0000168HP:0011059Localized periodontitis2 CL E G H
HP:0000168HP:0011058Generalized periodontitis2 CL E G H
HP:0000168HP:0000166Severe periodontitis2CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040283 - Occasional5
HP:0000168HP:0000166Severe periodontitis2CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.HP:0003593 - Infantile onset50
HP:0000168HP:0000166Severe periodontitis2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000168HP:0000166Severe periodontitis2CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.HP:0003593 - Infantile onset50
HP:0000168HP:0000166Severe periodontitis2CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 1.HP:0003593 - Infantile onset50
HP:0000168HP:0000166Severe periodontitis2CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040284 - Very rare9
HP:0000168HP:0000166Severe periodontitis2SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71


Genes (231) :ABCA5 ABCC9 ADAMTS2 ADAMTS3 AEBP1 AFF3 AGA AIMP2 ALMS1 ANTXR2 AP3B1 ASXL3 ATG7 ATP6V1B2 B4GALT7 BAZ1B BCL7B BCOR BLOC1S3 BLOC1S5 BUD23 C1R C1S CAT CCBE1 CD40LG CD96 CDKN1A CDKN1B CDKN2B CDKN2C CLIP2 CLPB CLTRN CNTNAP1 COL3A1 CTC1 CTSC CXCR4 CYBA CYBB CYBC1 DDR2 DHCR24 DHCR7 DKC1 DNAJC30 DSP DVL1 DVL3 ECM1 EIF4H ELANE ELMO2 ELN EMC1 EXTL3 F10 F13A1 F13B F2 F5 F7 F8 FAM20A FAM20C FAT4 FBXO28 FCGR2C FERMT1 FGA FGB FGF3 FGFR2 FGG FIG4 FIP1L1 FKBP6 FZD2 GBA1 GFI1 GJB2 GJB6 GLB1 GNAQ GNPTAB GORAB GP1BA GP1BB GP9 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HIVEP2 HPS1 HPS3 HYLS1 HYMAI IDS IDUA IER3IP1 IFNG IL18BP INSR IRF2BP2 IRF9 ITGA2B ITGB2 ITGB3 JAK2 KCNH1 KCNJ6 KCNK4 KCNMA1 KCNN3 KIF1A KIF23 KIF7 KRT6A LBR LIMK1 LMAN1 LMNB1 LYST MAN2B1 MAP1B MBTPS2 MCFD2 MEN1 METTL27 MGAT2 MIA3 MLXIPL MMP14 MMP2 MPL MYD88 MYSM1 NABP1 NCF1 NCF2 NCF4 NEU1 NFIX NGF NHP2 NOP10 NOTCH2 NOTCH3 NPM1 NTRK1 NUMA1 NXN OCRL OSTM1 PARN PDGFRB PERP PIGA PIGN PIGS PLAGL1 PLEKHM1 PLG PML PRF1 PRKAR1A PRMT7 RACGAP1 RALGAPA1 RARA REST RFC2 RIN2 RMRP ROR2 RTEL1 SAMD9 SATB2 SBDS SC5D SCARB2 SERPINF2 SETBP1 SH3PXD2B SLC17A5 SLC29A3 SLC35C1 SLC37A4 SLC6A19 SMAD4 SOS1 SRP54 STAT3 STAT5B STX1A TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TCIRG1 TCTN3 TERC TERT TET2 TINF2 TMCO1 TMEM270 TRIM8 TRPV3 TSC1 TSC2 TWIST2 TYMS USB1 USP9X VAC14 VPS13B VPS37D WAS WDR26 WIPF1 WNT5A WRAP53 ZBTB16 ZEB2 ZNHIT3

Diseases (201) :ORPHA:2026 OMIM:135400 OMIM:239850 OMIM:225410 ORPHA:2136 ORPHA:536532 OMIM:619297 ORPHA:93 OMIM:618006 ORPHA:64 OMIM:203800 OMIM:228600 ORPHA:2176 ORPHA:2028 OMIM:608233 OMIM:615485 OMIM:619422 ORPHA:79500 ORPHA:3473 OMIM:616455 ORPHA:75496 ORPHA:904 ORPHA:520 OMIM:614077 OMIM:619172 OMIM:130080 ORPHA:75392 OMIM:617174 ORPHA:926 OMIM:235510 OMIM:308230 ORPHA:1308 ORPHA:652 ORPHA:486 ORPHA:2116 OMIM:618186 OMIM:130050 OMIM:618343 ORPHA:286 ORPHA:1775 OMIM:245010 ORPHA:678 OMIM:245000 OMIM:170650 ORPHA:51636 ORPHA:379 OMIM:618175 OMIM:602398 ORPHA:818 OMIM:615821 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:530 ORPHA:2686 ORPHA:3019 OMIM:606893 OMIM:616875 ORPHA:480898 ORPHA:508533 ORPHA:328 OMIM:227600 ORPHA:331 OMIM:613225 OMIM:613679 ORPHA:326 ORPHA:327 ORPHA:169805 OMIM:204690 ORPHA:1031 ORPHA:1832 OMIM:259775 OMIM:619777 ORPHA:3002 ORPHA:2908 OMIM:173650 OMIM:202400 ORPHA:98880 ORPHA:98881 ORPHA:101041 ORPHA:2791 OMIM:614592 ORPHA:313855 ORPHA:3472 ORPHA:77259 ORPHA:477 ORPHA:79255 OMIM:230500 OMIM:230600 ORPHA:3205 OMIM:252500 ORPHA:576 OMIM:231070 ORPHA:274 OMIM:153670 OMIM:231200 OMIM:312870 OMIM:253220 OMIM:616977 OMIM:203300 OMIM:614072 ORPHA:2189 ORPHA:96191 ORPHA:217093 ORPHA:217085 OMIM:607014 OMIM:614231 ORPHA:88 OMIM:613254 OMIM:618549 OMIM:246200 ORPHA:769 OMIM:618648 ORPHA:849 OMIM:273800 OMIM:116920 ORPHA:729 ORPHA:420561 OMIM:135500 ORPHA:435628 OMIM:618381 OMIM:618729 OMIM:618658 ORPHA:2836 ORPHA:98870 OMIM:200990 OMIM:615726 OMIM:169400 ORPHA:35909 OMIM:619179 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:248500 OMIM:618918 ORPHA:659 OMIM:212066 OMIM:619269 OMIM:277950 OMIM:259600 ORPHA:33226 ORPHA:508542 ORPHA:93400 ORPHA:93399 OMIM:602535 ORPHA:561 OMIM:614753 ORPHA:64752 ORPHA:955 ORPHA:2591 ORPHA:1507 OMIM:618529 ORPHA:534 OMIM:259720 OMIM:300868 OMIM:301072 ORPHA:280633 OMIM:618143 OMIM:618107 ORPHA:722 OMIM:217090 ORPHA:464288 OMIM:618797 OMIM:617626 ORPHA:2024 OMIM:613075 ORPHA:217335 ORPHA:175 OMIM:268310 OMIM:610455 OMIM:612313 ORPHA:46059 OMIM:607330 ORPHA:79 ORPHA:798 OMIM:249420 ORPHA:137834 OMIM:269920 ORPHA:168569 OMIM:266265 ORPHA:99843 ORPHA:79259 ORPHA:2588 OMIM:135300 ORPHA:2314 OMIM:220500 OMIM:619323 OMIM:616900 ORPHA:2753 OMIM:213980 OMIM:619428 OMIM:191100 OMIM:209885 ORPHA:480880 ORPHA:193 OMIM:301000 ORPHA:906 ORPHA:513456 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.