Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal ear morphology (HP:0031703)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormality of the middle ear (HP:0000370)

Parent Node:
Neoplasm of the ear (HP:0012780)

..Starting node
..Neoplasm of the middle ear (HP:0100799)

Term ID:

100799

Name:

Neoplasm of the middle ear

Synonym:

Middle ear tumor; Middle ear tumour; Neoplasia of the middle ear

Definition:

A tumor (abnormal growth of tissue) of the middle ear.

Comments:

Reference:

HP:0100799

Genes and Diseases:

Child Nodes:

........

Cholesteatoma (HP:0009797)

Sister Nodes:

Neoplasm of the inner ear (HP:0040096)

Neoplasm of the outer ear (HP:0040095)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100799	HP:0100799	Neoplasm of the middle ear	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100799	HP:0009797	Cholesteatoma	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100799	HP:0009797	Cholesteatoma	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0100799	HP:0009797	Cholesteatoma	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0100799	HP:0009797	Cholesteatoma	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100799	HP:0009797	Cholesteatoma	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0100799	HP:0009797	Cholesteatoma	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0100799	HP:0009797	Cholesteatoma	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100799	HP:0009797	Cholesteatoma	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100799	HP:0009797	Cholesteatoma	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0100799	HP:0009797	Cholesteatoma	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1

Genes (10) :APC2 DDR2 EYA1 FOCAD NFIX NKX2-1 NSD1 SETD2 SIX1 SYK

Diseases (7) :ORPHA:821 OMIM:618175 OMIM:113650 OMIM:619991 OMIM:602535 OMIM:610978 OMIM:619381

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

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