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

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

..Starting node
..Meningioma (HP:0002858)

Term ID:

2858

Name:

Meningioma

Synonym:

Noncancerous growth of membranes covering brain

Definition:

The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.

Comments:

Reference:

HP:0002858

Genes and Diseases:

Child Nodes:

........

Intracranial meningioma (HP:0100009)

........

Spinal meningioma (HP:0100010)

........

Optic nerve sheath meningioma (HP:0500089)

Sister Nodes:

Cerebral germinoma (HP:0100312)

Cerebral hamartoma (HP:0009731)

Choroid plexus papilloma (HP:0200022)

Hemangioblastoma (HP:0010797)

Multiple central nervous system lipomas (HP:0100251)

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:0002858	HP:0002858	Meningioma	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0002858	HP:0002858	Meningioma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0002858	HP:0002858	Meningioma	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0002858	HP:0002858	Meningioma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0002858	HP:0002858	Meningioma	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040283 - Occasional	7
HP:0002858	HP:0002858	Meningioma	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0002858	HP:0002858	Meningioma	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0002858	HP:0002858	Meningioma	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0002858	HP:0002858	Meningioma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002858	HP:0002858	Meningioma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002858	HP:0002858	Meningioma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002858	HP:0002858	Meningioma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002858	HP:0002858	Meningioma	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0002858	HP:0002858	Meningioma	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0002858	HP:0002858	Meningioma	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002858	HP:0002858	Meningioma	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0002858	HP:0002858	Meningioma	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002858	HP:0002858	Meningioma	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040283 - Occasional	101
HP:0002858	HP:0002858	Meningioma	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0002858	HP:0002858	Meningioma	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0002858	HP:0002858	Meningioma	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0002858	HP:0002858	Meningioma	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0002858	HP:0002858	Meningioma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002858	HP:0002858	Meningioma	0	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to	.	1
HP:0002858	HP:0002858	Meningioma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0002858	HP:0002858	Meningioma	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0002858	HP:0002858	Meningioma	0	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to	.	220
HP:0002858	HP:0002858	Meningioma	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0002858	HP:0002858	Meningioma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0002858	HP:0002858	Meningioma	0	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0002858	HP:0002858	Meningioma	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0002858	HP:0002858	Meningioma	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3	.	2
HP:0002858	HP:0002858	Meningioma	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0002858	HP:0002858	Meningioma	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0002858	HP:0002858	Meningioma	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0002858	HP:0002858	Meningioma	0	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to	.	9
HP:0002858	HP:0002858	Meningioma	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0002858	HP:0002858	Meningioma	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0002858	HP:0002858	Meningioma	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0002858	HP:0002858	Meningioma	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0002858	HP:0002858	Meningioma	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0002858	HP:0002858	Meningioma	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0002858	HP:0002858	Meningioma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0002858	HP:0002858	Meningioma	0	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to	.	948
HP:0002858	HP:0002858	Meningioma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0002858	HP:0002858	Meningioma	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0002858	HP:0002858	Meningioma	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0002858	HP:0002858	Meningioma	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0002858	HP:0002858	Meningioma	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0002858	HP:0002858	Meningioma	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0002858	HP:0002858	Meningioma	0	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0002858	HP:0002858	Meningioma	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0002858	HP:0002858	Meningioma	0	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to	.	47
HP:0002858	HP:0002858	Meningioma	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0002858	HP:0002858	Meningioma	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0002858	HP:0002858	Meningioma	0	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to	.	124
HP:0002858	HP:0002858	Meningioma	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0002858	HP:0002858	Meningioma	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0002858	HP:0002858	Meningioma	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0002858	HP:0002858	Meningioma	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0002858	HP:0002858	Meningioma	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0002858	HP:0033714	Multiple meningiomas	1	CL E G H
HP:0002858	HP:0100009	Intracranial meningioma	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0002858	HP:0100010	Spinal meningioma	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0002858	HP:0100009	Intracranial meningioma	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0002858	HP:0100010	Spinal meningioma	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0002858	HP:0100009	Intracranial meningioma	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0002858	HP:0100010	Spinal meningioma	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0002858	HP:0100009	Intracranial meningioma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0002858	HP:0100010	Spinal meningioma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0002858	HP:0500089	Optic nerve sheath meningioma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0002858	HP:0100009	Intracranial meningioma	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0002858	HP:0100010	Spinal meningioma	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0002858	HP:0100009	Intracranial meningioma	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0002858	HP:0100010	Spinal meningioma	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0002858	HP:0100009	Intracranial meningioma	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0002858	HP:0100010	Spinal meningioma	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0002858	HP:0100009	Intracranial meningioma	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0002858	HP:0100010	Spinal meningioma	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0002858	HP:0100010	Spinal meningioma	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0002858	HP:0100009	Intracranial meningioma	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0002858	HP:0100009	Intracranial meningioma	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0002858	HP:0100010	Spinal meningioma	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0002858	HP:0100009	Intracranial meningioma	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0002858	HP:0100010	Spinal meningioma	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0002858	HP:0100009	Intracranial meningioma	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent
HP:0002858	HP:0100010	Spinal meningioma	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional

Genes (39) :AKT1 ARMC5 BAP1 CCM2 CDKN1A CDKN1B CDKN2B CDKN2C CHEK2 CREBBP EIF3F EP300 GNAS KLLN KRIT1 LMNA MBD4 MEN1 MN1 NF1 NF2 NRAS NTHL1 PDCD10 PDGFB PIK3CA PTEN SDHB SDHC SDHD SEC23B SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 USF3 WRN

Diseases (29) :ORPHA:201 OMIM:615109 ORPHA:2495 ORPHA:744 ORPHA:189427 OMIM:614327 ORPHA:221061 ORPHA:652 OMIM:609265 ORPHA:353281 ORPHA:353277 OMIM:618295 ORPHA:353284 ORPHA:79474 OMIM:619975 OMIM:607174 OMIM:162200 ORPHA:637 OMIM:101000 OMIM:162091 OMIM:249400 OMIM:616415 ORPHA:454840 OMIM:615108 OMIM:602501 ORPHA:109 OMIM:158350 ORPHA:902 OMIM:277700

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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