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:
Abnormality of the middle ear (HP:0000370)

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

Parent Node:
Morphological abnormality of the middle ear (HP:0008609)

Parent Node:
Neoplasm of the middle ear (HP:0100799)

..Starting node
..Cholesteatoma (HP:0009797)

Term ID:

9797

Name:

Cholesteatoma

Synonym:

Definition:

Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.

Comments:

Reference:

HP:0009797

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009797	HP:0009797	Cholesteatoma	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0009797	HP:0009797	Cholesteatoma	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0009797	HP:0009797	Cholesteatoma	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009797	HP:0009797	Cholesteatoma	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0009797	HP:0009797	Cholesteatoma	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0009797	HP:0009797	Cholesteatoma	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0009797	HP:0009797	Cholesteatoma	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0009797	HP:0009797	Cholesteatoma	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0009797	HP:0009797	Cholesteatoma	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009797	HP:0009797	Cholesteatoma	0	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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