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

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

..Starting node
..Medulloblastoma (HP:0002885)

Term ID:

2885

Name:

Medulloblastoma

Synonym:

Definition:

A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.

Comments:

Reference:

HP:0002885

Genes and Diseases:

Child Nodes:

........

Cerebellar medulloblastoma (HP:0007129)

Sister Nodes:

Cerebral germinoma (HP:0100312)

Choroid plexus carcinoma (HP:0030392)

Glioma (HP:0009733)

Neuroblastic tumor (HP:0004376)

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:0002885	HP:0002885	Medulloblastoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0002885	HP:0002885	Medulloblastoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0002885	HP:0002885	Medulloblastoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0002885	HP:0002885	Medulloblastoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0002885	HP:0002885	Medulloblastoma	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare	145
HP:0002885	HP:0002885	Medulloblastoma	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0002885	HP:0002885	Medulloblastoma	0	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0002885	HP:0002885	Medulloblastoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0002885	HP:0002885	Medulloblastoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0002885	HP:0002885	Medulloblastoma	0	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0002885	HP:0002885	Medulloblastoma	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0002885	HP:0002885	Medulloblastoma	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0002885	HP:0002885	Medulloblastoma	0	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0002885	HP:0002885	Medulloblastoma	0	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0002885	HP:0002885	Medulloblastoma	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0002885	HP:0002885	Medulloblastoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0002885	HP:0002885	Medulloblastoma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0002885	HP:0002885	Medulloblastoma	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002885	HP:0002885	Medulloblastoma	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0002885	HP:0002885	Medulloblastoma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0002885	HP:0002885	Medulloblastoma	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0002885	HP:0002885	Medulloblastoma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0002885	HP:0002885	Medulloblastoma	0	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0002885	HP:0002885	Medulloblastoma	0	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1	.	87
HP:0002885	HP:0002885	Medulloblastoma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0002885	HP:0002885	Medulloblastoma	0	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0002885	HP:0002885	Medulloblastoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0002885	HP:0007129	Cerebellar medulloblastoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0002885	HP:0007129	Cerebellar medulloblastoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0002885	HP:0007129	Cerebellar medulloblastoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare

Genes (19) :APC ASXL1 BRCA2 CDKN2A CHEK2 CTNNB1 DICER1 ELP1 GPR161 KEAP1 MDM2 MLH1 NBN PALB2 PTCH1 PTCH2 SMARCB1 SUFU TP53

Diseases (16) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:97297 OMIM:613029 OMIM:155255 ORPHA:524 ORPHA:276399 OMIM:601200 OMIM:276300 OMIM:251260 OMIM:610832 OMIM:109400 ORPHA:77301 OMIM:609322

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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