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 inner ear (HP:0000359)

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

..Starting node
..Neoplasm of the inner ear (HP:0040096)

Term ID:

40096

Name:

Neoplasm of the inner ear

Synonym:

Inner ear tumor; Inner ear tumour

Definition:

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

Comments:

Reference:

HP:0040096

Genes and Diseases:

Child Nodes:

........

Vestibular Schwannoma (HP:0009588)

................... HP:0009589 Bilateral vestibular Schwannoma
................... HP:0009590 Unilateral vestibular Schwannoma

........

Endolymphatic sac tumor (HP:0030393)

Sister Nodes:

Neoplasm of the middle ear (HP:0100799)

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:0040096	HP:0040096	Neoplasm of the inner ear	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0040096	HP:0040096	Neoplasm of the inner ear	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0040096	HP:0030393	Endolymphatic sac tumor	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0040096	HP:0009588	Vestibular schwannoma	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0040096	HP:0009588	Vestibular schwannoma	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0040096	HP:0009588	Vestibular schwannoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0040096	HP:0009588	Vestibular schwannoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0040096	HP:0009588	Vestibular schwannoma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0040096	HP:0030393	Endolymphatic sac tumor	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0040096	HP:0009589	Bilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0040096	HP:0009589	Bilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0040096	HP:0009590	Unilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220

Genes (6) :CCND1 HRAS KARS1 NF2 SPRED1 VHL

Diseases (6) :ORPHA:892 OMIM:218040 OMIM:613641 ORPHA:637 OMIM:101000 ORPHA:137605

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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