Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of the spinal cord (HP:0002143)

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

..Starting node
..Spinal cord tumor (HP:0010302)

Term ID:

10302

Name:

Spinal cord tumor

Synonym:

Spinal cord tumor; Spinal cord tumour; Spinal tumor; Spinal tumors; Spinal tumour; Spinal tumours; Tumor of the spinal cord; Tumour of the spinal cord

Definition:

A neoplasm affecting the spinal cord.

Comments:

Reference:

HP:0010302

Genes and Diseases:

Child Nodes:

........

Spinal hemangioblastoma (HP:0009713)

Sister Nodes:

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

Brain neoplasm (HP:0030692)

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

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

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:0010302	HP:0010302	Spinal cord tumor	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010302	HP:0010302	Spinal cord tumor	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0010302	HP:0010302	Spinal cord tumor	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0010302	HP:0010302	Spinal cord tumor	0	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2	.	43
HP:0010302	HP:0010302	Spinal cord tumor	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0010302	HP:0010302	Spinal cord tumor	0	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0010302	HP:0010302	Spinal cord tumor	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0010302	HP:0010302	Spinal cord tumor	0	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0010302	HP:0010302	Spinal cord tumor	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010302	HP:0010302	Spinal cord tumor	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0010302	HP:0009713	Spinal hemangioblastoma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0010302	HP:0009713	Spinal hemangioblastoma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (9) :CCND1 CREBBP FLI1 LZTR1 NF2 RELA SMARCB1 VHL ZFTA

Diseases (7) :OMIM:193300 ORPHA:353281 ORPHA:370348 OMIM:615670 ORPHA:637 OMIM:162091 ORPHA:251636

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen