Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the tongue (HP:0000157)help
Grandparent Node:
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Neoplasm of the oral cavity (HP:0100649)help
Parent Node:
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Neoplasm of the tongue (HP:0100648)help
..Starting node
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Hamartoma of tongue (HP:0011802)help
Term ID: 11802
Name: Hamartoma of tongue
Synonym: Lingual hamartoma
Definition: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Comments:
Reference: HP:0011802
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLipoma of the tongue (HP:0030815) help
..expandSquamous cell carcinoma of the tongue (HP:0030413) 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:0011802HP:0011802Hamartoma of tongue0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0011802HP:0011802Hamartoma of tongue0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0011802HP:0011802Hamartoma of tongue0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0011802HP:0011802Hamartoma of tongue0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0011802HP:0011802Hamartoma of tongue0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0011802HP:0011802Hamartoma of tongue0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3HP:0040283 - Occasional304
HP:0011802HP:0011802Hamartoma of tongue0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0011802HP:0011802Hamartoma of tongue0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0011802HP:0011802Hamartoma of tongue0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0011802HP:0011802Hamartoma of tongue0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011802HP:0011802Hamartoma of tongue0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0011802HP:0011802Hamartoma of tongue0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0011802HP:0011802Hamartoma of tongue0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011802HP:0011802Hamartoma of tongue0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0011802HP:0011802Hamartoma of tongue0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0011802HP:0011802Hamartoma of tongue0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0011802HP:0011802Hamartoma of tongue0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0011802HP:0011802Hamartoma of tongue0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0011802HP:0011802Hamartoma of tongue0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0011802HP:0011802Hamartoma of tongue0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0011802HP:0011802Hamartoma of tongue0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0011802HP:0011802Hamartoma of tongue0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0011802HP:0011802Hamartoma of tongue0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0011802HP:0011802Hamartoma of tongue0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0011802HP:0011802Hamartoma of tongue0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0011802HP:0011802Hamartoma of tongue0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0011802HP:0011802Hamartoma of tongue0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0011802HP:0011802Hamartoma of tongue0WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndromeHP:0040281 - Very frequent60


Genes (21) :C2CD3 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 GNAI3 INTU KIAA0753 KIF7 MAN2C1 NEK1 OFD1 PDE6D PLCB4 TCTN3 TMEM107 TMEM216 TMEM231 TOPORS WDPCP

Diseases (18) :ORPHA:434179 OMIM:615948 ORPHA:2754 OMIM:277170 OMIM:174300 OMIM:613091 ORPHA:137888 OMIM:617925 OMIM:619775 ORPHA:2751 OMIM:263520 OMIM:311200 ORPHA:2750 OMIM:258860 OMIM:617563 ORPHA:2752 OMIM:217085 ORPHA:1338
 

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