Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Morphological central nervous system abnormality (HP:0002011)

Grandparent Node:
Neoplasm of the nervous system (HP:0004375)

Parent Node:
Neoplasm of the central nervous system (HP:0100006)

..Starting node
..Brain neoplasm (HP:0030692)

Term ID:

30692

Name:

Brain neoplasm

Synonym:

Brain tumor; Brain tumour

Definition:

A benign or malignant neoplasm that arises from or metastasizes to the brain.

Comments:

Reference:

HP:0030692

Genes and Diseases:

Child Nodes:

........

Supratentorial neoplasm (HP:0030693)

................... HP:0010799 Pinealoma

Sister Nodes:

Benign neoplasm of the central nervous system (HP:0100835)

Malignant neoplasm of the central nervous system (HP:0100836)

Neuronal/glioneuronal neoplasm of the central nervous system (HP:0025170)

Spinal cord tumor (HP:0010302)

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:0030692	HP:0030692	Brain neoplasm	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0030692	HP:0030692	Brain neoplasm	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0030692	HP:0030692	Brain neoplasm	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040280 - Obligate	3179
HP:0030692	HP:0030692	Brain neoplasm	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0030692	HP:0030692	Brain neoplasm	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0030692	HP:0030692	Brain neoplasm	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0030692	HP:0030692	Brain neoplasm	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0030692	HP:0030692	Brain neoplasm	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0030692	HP:0030692	Brain neoplasm	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0030692	HP:0030692	Brain neoplasm	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0030692	HP:0030692	Brain neoplasm	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0030692	HP:0030693	Supratentorial neoplasm	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0030692	HP:0030693	Supratentorial neoplasm	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0030692	HP:0030693	Supratentorial neoplasm	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0030692	HP:0010799	Pinealoma	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0030692	HP:0030694	Pineal parenchymal cell neoplasm	3	CL E G H
HP:0030692	HP:0030408	Pineoblastoma	4	CL E G H
HP:0030692	HP:0030407	Pineocytoma	4	CL E G H

Genes (10) :AAGAB APC COL14A1 FLI1 NF1 POLD1 POLE RB1 RELA ZFTA

Diseases (8) :ORPHA:79501 ORPHA:79665 ORPHA:99818 ORPHA:370348 ORPHA:97685 ORPHA:447877 OMIM:180200 ORPHA:251636

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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