Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the oral cavity (HP:0100649)help
Term ID: 100649
Name: Neoplasm of the oral cavity
Synonym: Lesion of oral cavity; Mouth neoplasm; Mouth tumor; Neoplasm of the mouth; Tumor of oral cavity; Tumour of oral cavity
Definition: A tumor (abnormal growth of tissue) of the oral cavity.
Comments:
Reference: HP:0100649
Genes and Diseases:
 
       Child Nodes:
........expandEpignathus (HP:0030767) help
........expandPalate neoplasm (HP:0031366) help
........expandOdontogenic neoplasm (HP:0100612) help
................... HP:0010603 Odontogenic keratocysts of the jaw
................... HP:0011068 Odontoma
................... HP:0012328 Cementoma
........expandNeoplasm of the tongue (HP:0100648) help
................... HP:0011802 Hamartoma of tongue
................... HP:0030413 Squamous cell carcinoma of the tongue
................... HP:0030815 Lipoma of the tongue
........expandSalivary gland neoplasm (HP:0100684) help
................... HP:0031523 Salivary gland oncocytoma

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) 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:0100649HP:0100649Neoplasm of the oral cavity0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100649HP:0100649Neoplasm of the oral cavity0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100649HP:0100649Neoplasm of the oral cavity0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100649HP:0100649Neoplasm of the oral cavity0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100649HP:0100649Neoplasm of the oral cavity0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100649HP:0100649Neoplasm of the oral cavity0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0100649HP:0100649Neoplasm of the oral cavity0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0100649HP:0100649Neoplasm of the oral cavity0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0100649HP:0100649Neoplasm of the oral cavity0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0100649HP:0100649Neoplasm of the oral cavity0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100649HP:0100649Neoplasm of the oral cavity0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100649HP:0100649Neoplasm of the oral cavity0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0100649HP:0100649Neoplasm of the oral cavity0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0100649HP:0100649Neoplasm of the oral cavity0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0100649HP:0100649Neoplasm of the oral cavity0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0100649HP:0100649Neoplasm of the oral cavity0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0100649HP:0100649Neoplasm of the oral cavity0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0100649HP:0100649Neoplasm of the oral cavity0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100649HP:0100649Neoplasm of the oral cavity0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100649HP:0100649Neoplasm of the oral cavity0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0100649HP:0100649Neoplasm of the oral cavity0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0100649HP:0100649Neoplasm of the oral cavity0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100649HP:0100649Neoplasm of the oral cavity0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0100649HP:0100649Neoplasm of the oral cavity0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0100649HP:0100649Neoplasm of the oral cavity0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0100649HP:0100649Neoplasm of the oral cavity0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040282 - Frequent645
HP:0100649HP:0100649Neoplasm of the oral cavity0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100649HP:0100649Neoplasm of the oral cavity0MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0100649HP:0100649Neoplasm of the oral cavity0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0100649HP:0100649Neoplasm of the oral cavity0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0100649HP:0100649Neoplasm of the oral cavity0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0100649HP:0100649Neoplasm of the oral cavity0MYC CL E G H46097553ORPHA:543Burkitt lymphomaHP:0040282 - Frequent11
HP:0100649HP:0100649Neoplasm of the oral cavity0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0100649HP:0100649Neoplasm of the oral cavity0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0100649HP:0100649Neoplasm of the oral cavity0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100649HP:0100649Neoplasm of the oral cavity0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0100649HP:0100649Neoplasm of the oral cavity0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0100649HP:0100649Neoplasm of the oral cavity0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0100649HP:0100649Neoplasm of the oral cavity0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0100649HP:0100649Neoplasm of the oral cavity0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0100649HP:0100649Neoplasm of the oral cavity0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100649HP:0100649Neoplasm of the oral cavity0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100649HP:0100649Neoplasm of the oral cavity0PLAG1 CL E G H53249045OMIM:181030Salivary gland adenoma, pleomorphic3
HP:0100649HP:0100649Neoplasm of the oral cavity0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0100649HP:0100649Neoplasm of the oral cavity0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0100649HP:0100649Neoplasm of the oral cavity0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100649HP:0100649Neoplasm of the oral cavity0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0100649HP:0100649Neoplasm of the oral cavity0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100649HP:0100649Neoplasm of the oral cavity0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0100649HP:0100649Neoplasm of the oral cavity0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0100649HP:0100649Neoplasm of the oral cavity0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0100649HP:0100649Neoplasm of the oral cavity0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0100649HP:0100649Neoplasm of the oral cavity0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0100649HP:0100649Neoplasm of the oral cavity0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100649HP:0100649Neoplasm of the oral cavity0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0100649HP:0100649Neoplasm of the oral cavity0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0100649HP:0100649Neoplasm of the oral cavity0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0100649HP:0100649Neoplasm of the oral cavity0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0100649HP:0100649Neoplasm of the oral cavity0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0100649HP:0100649Neoplasm of the oral cavity0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0100649HP:0100649Neoplasm of the oral cavity0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0100649HP:0100649Neoplasm of the oral cavity0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0100649HP:0100649Neoplasm of the oral cavity0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0100649HP:0100649Neoplasm of the oral cavity0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0100649HP:0100649Neoplasm of the oral cavity0WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndrome60
HP:0100649HP:0100649Neoplasm of the oral cavity0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0100649HP:0100649Neoplasm of the oral cavity0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0100649HP:0030767Epignathus1 CL E G H
HP:0100649HP:0031366Palate neoplasm1 CL E G H
HP:0100649HP:0100648Neoplasm of the tongue1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0100649HP:0100612Odontogenic neoplasm1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100649HP:0100612Odontogenic neoplasm1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100649HP:0100612Odontogenic neoplasm1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100649HP:0100648Neoplasm of the tongue1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0100649HP:0100648Neoplasm of the tongue1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0100649HP:0100648Neoplasm of the tongue1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0100649HP:0100648Neoplasm of the tongue1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100649HP:0100648Neoplasm of the tongue1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0100649HP:0100648Neoplasm of the tongue1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100649HP:0100648Neoplasm of the tongue1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100649HP:0100648Neoplasm of the tongue1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0100649HP:0100648Neoplasm of the tongue1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0100649HP:0100648Neoplasm of the tongue1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0100649HP:0100648Neoplasm of the tongue1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0100649HP:0100648Neoplasm of the tongue1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0100649HP:0100612Odontogenic neoplasm1FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0100649HP:0100648Neoplasm of the tongue1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100649HP:0100648Neoplasm of the tongue1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100649HP:0100648Neoplasm of the tongue1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0100649HP:0100612Odontogenic neoplasm1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0100649HP:0100648Neoplasm of the tongue1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100649HP:0100648Neoplasm of the tongue1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040283 - Occasional141
HP:0100649HP:0100648Neoplasm of the tongue1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0100649HP:0100648Neoplasm of the tongue1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0100649HP:0100648Neoplasm of the tongue1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100649HP:0100648Neoplasm of the tongue1MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0100649HP:0100684Salivary gland neoplasm1MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional1819
HP:0100649HP:0100684Salivary gland neoplasm1MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2162
HP:0100649HP:0100684Salivary gland neoplasm1MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2232
HP:0100649HP:0100648Neoplasm of the tongue1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0100649HP:0100648Neoplasm of the tongue1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0100649HP:0100648Neoplasm of the tongue1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0100649HP:0100612Odontogenic neoplasm1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0100649HP:0100648Neoplasm of the tongue1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0100649HP:0100648Neoplasm of the tongue1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0100649HP:0100612Odontogenic neoplasm1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0100649HP:0100648Neoplasm of the tongue1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0100649HP:0100648Neoplasm of the tongue1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0100649HP:0100648Neoplasm of the tongue1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0100649HP:0100648Neoplasm of the tongue1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0100649HP:0100684Salivary gland neoplasm1PLAG1 CL E G H53249045OMIM:181030Salivary gland adenoma, pleomorphic.3
HP:0100649HP:0100648Neoplasm of the tongue1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0100649HP:0100648Neoplasm of the tongue1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0100649HP:0100612Odontogenic neoplasm1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100649HP:0100612Odontogenic neoplasm1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0100649HP:0100612Odontogenic neoplasm1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100649HP:0100648Neoplasm of the tongue1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0100649HP:0030427Ossifying fibroma of the jaw1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040283 - Occasional2
HP:0100649HP:0100648Neoplasm of the tongue1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0100649HP:0100648Neoplasm of the tongue1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0100649HP:0100648Neoplasm of the tongue1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0100649HP:0100612Odontogenic neoplasm1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100649HP:0100648Neoplasm of the tongue1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0100649HP:0100648Neoplasm of the tongue1TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0100649HP:0100648Neoplasm of the tongue1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0100649HP:0100648Neoplasm of the tongue1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0100649HP:0100648Neoplasm of the tongue1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0100649HP:0100648Neoplasm of the tongue1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0100649HP:0100648Neoplasm of the tongue1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0100649HP:0100648Neoplasm of the tongue1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0100649HP:0100648Neoplasm of the tongue1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0100649HP:0100648Neoplasm of the tongue1WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0100649HP:0100648Neoplasm of the tongue1WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndrome60
HP:0100649HP:0100648Neoplasm of the tongue1WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0100649HP:0034515Ameloblastoma2 CL E G H
HP:0100649HP:0012328Cementoma2 CL E G H
HP:0100649HP:0031523Salivary gland oncocytoma2 CL E G H
HP:0100649HP:0030815Lipoma of the tongue2 CL E G H
HP:0100649HP:0011068Odontoma2APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0100649HP:0011068Odontoma2APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0100649HP:0011068Odontoma2APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0100649HP:0011802Hamartoma of tongue2C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0100649HP:0011802Hamartoma of tongue2C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0100649HP:0011802Hamartoma of tongue2CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0100649HP:0011802Hamartoma of tongue2CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100649HP:0011802Hamartoma of tongue2DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100649HP:0011802Hamartoma of tongue2DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0100649HP:0011802Hamartoma of tongue2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0100649HP:0011802Hamartoma of tongue2FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0100649HP:0011068Odontoma2FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0100649HP:0011802Hamartoma of tongue2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0100649HP:0011802Hamartoma of tongue2INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100649HP:0011802Hamartoma of tongue2KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0100649HP:0011802Hamartoma of tongue2KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0100649HP:0011802Hamartoma of tongue2MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100649HP:0030413Squamous cell carcinoma of the tongue2MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0100649HP:0011802Hamartoma of tongue2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0100649HP:0011802Hamartoma of tongue2NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0100649HP:0011802Hamartoma of tongue2OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0100649HP:0011802Hamartoma of tongue2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0100649HP:0011802Hamartoma of tongue2OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0100649HP:0011802Hamartoma of tongue2PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0100649HP:0011802Hamartoma of tongue2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0100649HP:0010603Odontogenic keratocysts of the jaw2PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100649HP:0010603Odontogenic keratocysts of the jaw2PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0100649HP:0010603Odontogenic keratocysts of the jaw2PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100649HP:0010603Odontogenic keratocysts of the jaw2SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100649HP:0011802Hamartoma of tongue2TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0100649HP:0011802Hamartoma of tongue2TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0100649HP:0011802Hamartoma of tongue2TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0100649HP:0011802Hamartoma of tongue2TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0100649HP:0011802Hamartoma of tongue2TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0100649HP:0011802Hamartoma of tongue2TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0100649HP:0011802Hamartoma of tongue2WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0100649HP:0011802Hamartoma of tongue2WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndromeHP:0040281 - Very frequent60
HP:0100649HP:0030413Squamous cell carcinoma of the tongue2WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0100649HP:0030415Sarcomatoid carcinoma of the tongue3 CL E G H
HP:0100649HP:0030414Verrucous cell carcinoma of the tongue3 CL E G H


Genes (56) :AKT1 APC BAP1 C2CD3 CASP10 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 FAS FASLG FGF3 GJB2 GJB6 GNAI3 HSPG2 INTU KAT6B KIAA0753 KIF7 LMNA MAN2C1 MDM4 MLH1 MSH2 MSH6 MYC NEK1 NF2 OCRL OFD1 PDE6D PDGFB PIK3CA PLAG1 PLCB4 PRKCD PTCH1 PTCH2 RASGRP1 RSPRY1 SMARCB1 SMARCE1 SMO SUFU TCTN3 TERT TMEM107 TMEM216 TMEM231 TOPORS TRAF7 WDPCP WRAP53 WRN

Diseases (38) :ORPHA:2495 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:434179 OMIM:615948 ORPHA:3261 ORPHA:2754 OMIM:277170 OMIM:174300 OMIM:613091 ORPHA:137888 ORPHA:2791 ORPHA:477 ORPHA:800 OMIM:617925 ORPHA:3047 ORPHA:79474 OMIM:619775 OMIM:618849 ORPHA:587 ORPHA:543 ORPHA:2751 OMIM:263520 ORPHA:534 OMIM:311200 ORPHA:2750 OMIM:181030 OMIM:109400 ORPHA:77301 ORPHA:457395 OMIM:258860 OMIM:617563 ORPHA:2752 OMIM:217085 ORPHA:1338 OMIM:613988 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.