Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormal ear morphology (HP:0031703)help
Parent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the ear (HP:0012780)help
Term ID: 12780
Name: Neoplasm of the ear
Synonym: Ear tumor; Ear tumour
Definition: A tumor (abnormal growth of tissue) of the ear.
Comments:
Reference: HP:0012780
Genes and Diseases:
 
       Child Nodes:
........expandNeoplasm of the outer ear (HP:0040095) help
................... HP:0004459 Exostosis of the external auditory canal
................... HP:0040097 Neoplasm of the ceruminal gland
................... HP:0040098 Basalioma of the outer ear
........expandNeoplasm of the inner ear (HP:0040096) help
................... HP:0009588 Vestibular Schwannoma
................... HP:0030393 Endolymphatic sac tumor
........expandNeoplasm of the middle ear (HP:0100799) help
................... HP:0009797 Cholesteatoma

 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 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 oral cavity (HP:0100649) 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:0012780HP:0012780Neoplasm of the ear0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0012780HP:0012780Neoplasm of the ear0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0012780HP:0012780Neoplasm of the ear0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0012780HP:0012780Neoplasm of the ear0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0012780HP:0012780Neoplasm of the ear0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0012780HP:0012780Neoplasm of the ear0FOCAD CL E G H5491423377OMIM:6199913
HP:0012780HP:0012780Neoplasm of the ear0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0012780HP:0012780Neoplasm of the ear0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0012780HP:0012780Neoplasm of the ear0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0012780HP:0012780Neoplasm of the ear0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0012780HP:0012780Neoplasm of the ear0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012780HP:0012780Neoplasm of the ear0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0012780HP:0012780Neoplasm of the ear0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0012780HP:0012780Neoplasm of the ear0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0012780HP:0012780Neoplasm of the ear0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0012780HP:0012780Neoplasm of the ear0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0012780HP:0012780Neoplasm of the ear0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0012780HP:0012780Neoplasm of the ear0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0012780HP:0012780Neoplasm of the ear0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0012780HP:0100799Neoplasm of the middle ear1APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0012780HP:0040096Neoplasm of the inner ear1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0012780HP:0040095Neoplasm of the outer ear1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0012780HP:0100799Neoplasm of the middle ear1DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0012780HP:0100799Neoplasm of the middle ear1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0012780HP:0100799Neoplasm of the middle ear1FOCAD CL E G H5491423377OMIM:6199913
HP:0012780HP:0040096Neoplasm of the inner ear1HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0012780HP:0040095Neoplasm of the outer ear1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0012780HP:0040096Neoplasm of the inner ear1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0012780HP:0040096Neoplasm of the inner ear1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0012780HP:0040096Neoplasm of the inner ear1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012780HP:0100799Neoplasm of the middle ear1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0012780HP:0100799Neoplasm of the middle ear1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0012780HP:0100799Neoplasm of the middle ear1NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0012780HP:0100799Neoplasm of the middle ear1SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0012780HP:0100799Neoplasm of the middle ear1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0012780HP:0040096Neoplasm of the inner ear1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0012780HP:0100799Neoplasm of the middle ear1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0012780HP:0040096Neoplasm of the inner ear1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0012780HP:0040098Basalioma of the outer ear2 CL E G H
HP:0012780HP:0040097Neoplasm of the ceruminal gland2 CL E G H
HP:0012780HP:0009797Cholesteatoma2APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0012780HP:0030393Endolymphatic sac tumor2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0012780HP:0004459Exostosis of the external auditory canal2CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0012780HP:0009797Cholesteatoma2DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0012780HP:0009797Cholesteatoma2EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0012780HP:0009797Cholesteatoma2FOCAD CL E G H5491423377OMIM:6199913
HP:0012780HP:0009588Vestibular schwannoma2HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0012780HP:0004459Exostosis of the external auditory canal2IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0012780HP:0009588Vestibular schwannoma2KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0012780HP:0009588Vestibular schwannoma2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0012780HP:0009588Vestibular schwannoma2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012780HP:0009797Cholesteatoma2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0012780HP:0009797Cholesteatoma2NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0012780HP:0009797Cholesteatoma2NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0012780HP:0009797Cholesteatoma2SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0012780HP:0009797Cholesteatoma2SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0012780HP:0009588Vestibular schwannoma2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0012780HP:0009797Cholesteatoma2SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0012780HP:0030393Endolymphatic sac tumor2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0012780HP:0009589Bilateral vestibular schwannoma3NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0012780HP:0009590Unilateral vestibular schwannoma3NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0012780HP:0009589Bilateral vestibular schwannoma3NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220


Genes (18) :APC2 CCND1 CHRNG DDR2 EYA1 FOCAD HRAS IPO8 KARS1 NF2 NFIX NKX2-1 NSD1 SETD2 SIX1 SPRED1 SYK VHL

Diseases (15) :ORPHA:821 ORPHA:892 OMIM:265000 OMIM:618175 OMIM:113650 OMIM:619991 OMIM:218040 OMIM:619472 OMIM:613641 ORPHA:637 OMIM:101000 OMIM:602535 OMIM:610978 ORPHA:137605 OMIM:619381
 

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