Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormality of the tongue (HP:0000157)help
Parent Node:
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Neoplasm of the oral cavity (HP:0100649)help
..Starting node
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Neoplasm of the tongue (HP:0100648)help
Term ID: 100648
Name: Neoplasm of the tongue
Synonym:
Definition: A tumor (abnormal growth of tissue) of the tongue.
Comments:
Reference: HP:0100648
Genes and Diseases:
 
       Child Nodes:
........expandHamartoma of tongue (HP:0011802) help
........expandSquamous cell carcinoma of the tongue (HP:0030413) help
................... HP:0030414 Verrucous cell carcinoma of the tongue
................... HP:0030415 Sarcomatoid carcinoma of the tongue
........expandLipoma of the tongue (HP:0030815) help

 Sister Nodes: 
..expandEpignathus (HP:0030767) help
..expandOdontogenic neoplasm (HP:0100612) help
..expandPalate neoplasm (HP:0031366) help
..expandSalivary gland neoplasm (HP:0100684) 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:0100648HP:0100648Neoplasm of the tongue0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0100648HP:0100648Neoplasm of the tongue0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0100648HP:0100648Neoplasm of the tongue0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0100648HP:0100648Neoplasm of the tongue0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0100648HP:0100648Neoplasm of the tongue0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100648HP:0100648Neoplasm of the tongue0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0100648HP:0100648Neoplasm of the tongue0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100648HP:0100648Neoplasm of the tongue0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100648HP:0100648Neoplasm of the tongue0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0100648HP:0100648Neoplasm of the tongue0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0100648HP:0100648Neoplasm of the tongue0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0100648HP:0100648Neoplasm of the tongue0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0100648HP:0100648Neoplasm of the tongue0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0100648HP:0100648Neoplasm of the tongue0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100648HP:0100648Neoplasm of the tongue0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100648HP:0100648Neoplasm of the tongue0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0100648HP:0100648Neoplasm of the tongue0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100648HP:0100648Neoplasm of the tongue0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040283 - Occasional141
HP:0100648HP:0100648Neoplasm of the tongue0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0100648HP:0100648Neoplasm of the tongue0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0100648HP:0100648Neoplasm of the tongue0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100648HP:0100648Neoplasm of the tongue0MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0100648HP:0100648Neoplasm of the tongue0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0100648HP:0100648Neoplasm of the tongue0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0100648HP:0100648Neoplasm of the tongue0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0100648HP:0100648Neoplasm of the tongue0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0100648HP:0100648Neoplasm of the tongue0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0100648HP:0100648Neoplasm of the tongue0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0100648HP:0100648Neoplasm of the tongue0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0100648HP:0100648Neoplasm of the tongue0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0100648HP:0100648Neoplasm of the tongue0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0100648HP:0100648Neoplasm of the tongue0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0100648HP:0100648Neoplasm of the tongue0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0100648HP:0100648Neoplasm of the tongue0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0100648HP:0100648Neoplasm of the tongue0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0100648HP:0100648Neoplasm of the tongue0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0100648HP:0100648Neoplasm of the tongue0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0100648HP:0100648Neoplasm of the tongue0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0100648HP:0100648Neoplasm of the tongue0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0100648HP:0100648Neoplasm of the tongue0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0100648HP:0100648Neoplasm of the tongue0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0100648HP:0100648Neoplasm of the tongue0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0100648HP:0100648Neoplasm of the tongue0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0100648HP:0100648Neoplasm of the tongue0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0100648HP:0100648Neoplasm of the tongue0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0100648HP:0100648Neoplasm of the tongue0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0100648HP:0100648Neoplasm of the tongue0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0100648HP:0100648Neoplasm of the tongue0WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndrome60
HP:0100648HP:0100648Neoplasm of the tongue0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0100648HP:0030815Lipoma of the tongue1 CL E G H
HP:0100648HP:0011802Hamartoma of tongue1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0100648HP:0011802Hamartoma of tongue1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0100648HP:0011802Hamartoma of tongue1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0100648HP:0011802Hamartoma of tongue1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0100648HP:0011802Hamartoma of tongue1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0100648HP:0011802Hamartoma of tongue1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0100648HP:0011802Hamartoma of tongue1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0100648HP:0011802Hamartoma of tongue1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0100648HP:0011802Hamartoma of tongue1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0100648HP:0011802Hamartoma of tongue1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100648HP:0011802Hamartoma of tongue1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0100648HP:0011802Hamartoma of tongue1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0100648HP:0011802Hamartoma of tongue1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0100648HP:0030413Squamous cell carcinoma of the tongue1MDM4 CL E G H41946974OMIM:618849BONE MARROW FAILURE SYNDROME 6; BMFS61
HP:0100648HP:0011802Hamartoma of tongue1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0100648HP:0011802Hamartoma of tongue1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0100648HP:0011802Hamartoma of tongue1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0100648HP:0011802Hamartoma of tongue1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0100648HP:0011802Hamartoma of tongue1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0100648HP:0011802Hamartoma of tongue1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0100648HP:0011802Hamartoma of tongue1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0100648HP:0011802Hamartoma of tongue1TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0100648HP:0011802Hamartoma of tongue1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0100648HP:0011802Hamartoma of tongue1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0100648HP:0011802Hamartoma of tongue1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0100648HP:0011802Hamartoma of tongue1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0100648HP:0011802Hamartoma of tongue1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0100648HP:0011802Hamartoma of tongue1WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0100648HP:0011802Hamartoma of tongue1WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndromeHP:0040281 - Very frequent60
HP:0100648HP:0030413Squamous cell carcinoma of the tongue1WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0100648HP:0030415Sarcomatoid carcinoma of the tongue2 CL E G H
HP:0100648HP:0030414Verrucous cell carcinoma of the tongue2 CL E G H


Genes (42) :AKT1 BAP1 C2CD3 CASP10 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 FAS FASLG GJB2 GJB6 GNAI3 INTU KAT6B KIAA0753 KIF7 MAN2C1 MDM4 NEK1 NF2 OFD1 PDE6D PDGFB PIK3CA PLCB4 PRKCD RASGRP1 SMARCB1 SMARCE1 SMO SUFU TCTN3 TERT TMEM107 TMEM216 TMEM231 TOPORS TRAF7 WDPCP WRAP53

Diseases (24) :ORPHA:2495 ORPHA:434179 OMIM:615948 ORPHA:3261 ORPHA:2754 OMIM:277170 OMIM:174300 OMIM:613091 ORPHA:137888 ORPHA:477 OMIM:617925 ORPHA:3047 OMIM:619775 OMIM:618849 ORPHA:2751 OMIM:263520 OMIM:311200 ORPHA:2750 OMIM:258860 OMIM:617563 ORPHA:2752 OMIM:217085 ORPHA:1338 OMIM:613988
 

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