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:
Abnormal glial cell morphology (HP:0100705)

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

Grandparent Node:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Glioma (HP:0009733)

..Starting node
..Glioblastoma multiforme (HP:0012174)

Term ID:

12174

Name:

Glioblastoma multiforme

Synonym:

Glioblastoma

Definition:

A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.

Comments:

Reference:

HP:0012174

Genes and Diseases:

Child Nodes:

Sister Nodes:

Astrocytoma (HP:0009592)

Brainstem glioma (HP:0010796)

Cerebellar glioma (HP:0010795)

Ependymoma (HP:0002888)

Optic nerve glioma (HP:0009734)

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:0012174	HP:0012174	Glioblastoma multiforme	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0012174	HP:0012174	Glioblastoma multiforme	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0012174	HP:0012174	Glioblastoma multiforme	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0012174	HP:0012174	Glioblastoma multiforme	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0012174	HP:0012174	Glioblastoma multiforme	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0012174	HP:0012174	Glioblastoma multiforme	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0012174	HP:0012174	Glioblastoma multiforme	0	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0012174	HP:0012174	Glioblastoma multiforme	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0012174	HP:0012174	Glioblastoma multiforme	0	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0012174	HP:0012174	Glioblastoma multiforme	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0012174	HP:0012174	Glioblastoma multiforme	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0012174	HP:0012174	Glioblastoma multiforme	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0012174	HP:0012174	Glioblastoma multiforme	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0012174	HP:0012174	Glioblastoma multiforme	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0012174	HP:0012174	Glioblastoma multiforme	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0012174	HP:0012174	Glioblastoma multiforme	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0012174	HP:0012174	Glioblastoma multiforme	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0012174	HP:0012174	Glioblastoma multiforme	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0012174	HP:0012174	Glioblastoma multiforme	0	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0012174	HP:0012174	Glioblastoma multiforme	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911

Genes (22) :APC BMPR1A BRCA2 CDKN2A CHEK2 EPCAM ERBB2 FAN1 IDH1 KRAS MDM2 MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 RPS20 SEMA4A TGFBR2 TP53

Diseases (10) :ORPHA:99818 ORPHA:440437 OMIM:613029 ORPHA:524 ORPHA:144 OMIM:137800 OMIM:276300 OMIM:619096 OMIM:619097 OMIM:619101

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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