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 outer ear (HP:0000356)

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

..Starting node
..Neoplasm of the outer ear (HP:0040095)

Term ID:

40095

Name:

Neoplasm of the outer ear

Synonym:

Outer ear tumor; Outer ear tumour

Definition:

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

Comments:

Reference:

HP:0040095

Genes and Diseases:

Child Nodes:

........

Exostosis of the external auditory canal (HP:0004459)

........

Neoplasm of the ceruminal gland (HP:0040097)

........

Basalioma of the outer ear (HP:0040098)

Sister Nodes:

Neoplasm of the inner ear (HP:0040096)

Neoplasm of the middle ear (HP:0100799)

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:0040095	HP:0040095	Neoplasm of the outer ear	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0040095	HP:0040095	Neoplasm of the outer ear	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0040095	HP:0040098	Basalioma of the outer ear	1	CL E G H
HP:0040095	HP:0040097	Neoplasm of the ceruminal gland	1	CL E G H
HP:0040095	HP:0004459	Exostosis of the external auditory canal	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0040095	HP:0004459	Exostosis of the external auditory canal	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome

Genes (2) :CHRNG IPO8

Diseases (2) :OMIM:265000 OMIM:619472

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