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 nervous system morphology (HP:0012639)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Morphological central nervous system abnormality (HP:0002011)

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

..Starting node
..Neoplasm of the central nervous system (HP:0100006)

Term ID:

100006

Name:

Neoplasm of the central nervous system

Synonym:

Neoplasia of the central nervous system; Neoplasm of the CNS; Tumors of the central nervous system; Tumours of the central nervous system

Definition:

A neoplasm of the central nervous system.

Comments:

Reference:

HP:0100006

Genes and Diseases:

Child Nodes:

........

Spinal cord tumor (HP:0010302)

................... HP:0009713 Spinal hemangioblastoma

........

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

................... HP:0025171 Rosette-forming glioneuronal tumor

........

Brain neoplasm (HP:0030692)

................... HP:0030693 Supratentorial neoplasm

........

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

................... HP:0002858 Meningioma
................... HP:0009731 Cerebral hamartomata
................... HP:0010797 Hemangioblastoma
................... HP:0100251 Lipomas of the central neryous system
................... HP:0100312 Cerebral germinoma
................... HP:0200022 Choroid plexus papilloma

........

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

................... HP:0002885 Medulloblastoma
................... HP:0004376 Neuroblastic tumors
................... HP:0009733 Glioma
................... HP:0030392 Choroid plexus carcinoma
................... HP:0100312 Cerebral germinoma

Sister Nodes:

Neoplasm of the peripheral nervous system (HP:0100007)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100006	HP:0100006	Neoplasm of the central nervous system	0	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100006	Neoplasm of the central nervous system	0	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100836	Malignant neoplasm of the central nervous system	1	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0010302	Spinal cord tumor	1	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100835	Benign neoplasm of the central nervous system	1	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030692	Brain neoplasm	1	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0025170	Neuronal/glioneuronal neoplasm of the central nervous system	1	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0025170	Neuronal/glioneuronal neoplasm of the central nervous system	1	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100836	Malignant neoplasm of the central nervous system	1	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0010302	Spinal cord tumor	1	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100835	Benign neoplasm of the central nervous system	1	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030692	Brain neoplasm	1	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009713	Spinal hemangioblastoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0010797	Hemangioblastoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0025171	Rosette-forming glioneuronal tumor	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100312	Cerebral germinoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0004376	Neuroblastic tumor	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009731	Cerebral hamartoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009733	Glioma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033664	Ganglioglioma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030693	Supratentorial neoplasm	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100251	Multiple central nervous system lipomas	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033703	Dysembryoplastic neuroepithelial tumor	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030392	Choroid plexus carcinoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0200022	Choroid plexus papilloma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002885	Medulloblastoma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002858	Meningioma	2	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002885	Medulloblastoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0002858	Meningioma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0200022	Choroid plexus papilloma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009713	Spinal hemangioblastoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0010797	Hemangioblastoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0025171	Rosette-forming glioneuronal tumor	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100312	Cerebral germinoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0004376	Neuroblastic tumor	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009731	Cerebral hamartoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009733	Glioma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033664	Ganglioglioma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030693	Supratentorial neoplasm	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100251	Multiple central nervous system lipomas	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033703	Dysembryoplastic neuroepithelial tumor	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030392	Choroid plexus carcinoma	2	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009717	Cortical tubers	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0003006	Neuroblastoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0010796	Brainstem glioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0500089	Optic nerve sheath meningioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033681	Oligodendroglioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0010799	Pinealoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009716	Subependymal nodules	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006866	Midline central nervous system lipomas	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009592	Astrocytoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033714	Multiple meningiomata	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0012174	Glioblastoma multiforme	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009711	Retinal capillary hemangioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006880	Cerebellar hemangioblastoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0007129	Cerebellar medulloblastoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100009	Intracranial meningioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002888	Ependymoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002444	Hypothalamic hamartoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009713	Spinal hemangioblastoma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0010795	Cerebellar glioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0100010	Spinal meningioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009734	Optic nerve glioma	3	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0002444	Hypothalamic hamartoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009713	Spinal hemangioblastoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0010795	Cerebellar glioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100010	Spinal meningioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009734	Optic nerve glioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009717	Cortical tubers	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0003006	Neuroblastoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0010796	Brainstem glioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0500089	Optic nerve sheath meningioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033681	Oligodendroglioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0010799	Pinealoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006866	Midline central nervous system lipomas	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009592	Astrocytoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033714	Multiple meningiomata	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0012174	Glioblastoma multiforme	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009711	Retinal capillary hemangioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009716	Subependymal nodules	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006880	Cerebellar hemangioblastoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0007129	Cerebellar medulloblastoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0100009	Intracranial meningioma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0002888	Ependymoma	3	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006931	Pericallosal lipoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033680	Pilocytic astrocytoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030068	Olfactory esthesioneuroblastoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006768	Localized neuroblastoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006747	Ganglioneuroblastoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0009718	Subependymal giant-cell astrocytoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006742	Congenital neuroblastoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0033682	Pleomorphic xanthoastrocytoma	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030694	Pineal parenchymal cell neoplasm	4	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0006742	Congenital neuroblastoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033682	Pleomorphic xanthoastrocytoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030694	Pineal parenchymal cell neoplasm	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006931	Pericallosal lipoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0033680	Pilocytic astrocytoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030068	Olfactory esthesioneuroblastoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006768	Localized neuroblastoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0006747	Ganglioneuroblastoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0009718	Subependymal giant-cell astrocytoma	4	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030407	Pineocytoma	5	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0030408	Pineoblastoma	5	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0034014	Tubulonodular pericallosal lipoma	5	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0034013	Curvilinear pericallosal lipoma	5	EWSR1 CL E G H	2130	83469	ORPHA	0	74	3508	133450
HP:0100006	HP:0034013	Curvilinear pericallosal lipoma	5	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030407	Pineocytoma	5	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0034014	Tubulonodular pericallosal lipoma	5	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102
HP:0100006	HP:0030408	Pineoblastoma	5	WT1 CL E G H	7490	83469	ORPHA	0	1371	12796	607102

Genes (113) :ADAMTS3 AKT1 ALX1 ALX3 APC ARMC5 ASCL1 BAP1 BDNF BRAF BRD4 C11ORF95 CCBE1 CCM2 CDKN2A CHEK2 CPLANE1 CTNNB1 DICER1 EDN3 EPCAM ERBB2 EWSR1 FAN1 FAT4 FGFR1 FH FLI1 GABRD GDNF GLI3 GNAS GPC3 GPC4 IDH1 IDH2 KCNAB2 KEAP1 KIAA0753 KIF1B KIF7 KLLN KRAS KRIT1 LMNA LRP5 MAPRE2 MAX MDH2 MLH1 MLH3 MN1 MSH2 MSH3 MSH6 MYO1H NBN NF1 NF2 NME1 NOTCH3 NRAS NTHL1 NUTM1 OCRL OFD1 PALB2 PDCD10 PDE6D PDGFB PDGFRB PHOX2B PIK3CA PMS1 PMS2 POLD1 POLE PRDM16 PTCH1 PTCH2 PTEN PTPN11 RAF1 RB1 RELA RERE RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SETBP1 SIX6 SKI SMARCB1 SOX2 SUFU TCTN3 TGFBR2 TMEM127 TMEM216 TP53 TSC1 TSC2 TUBB VHL WDPCP WRN WT1 ZSWIM6

Diseases (87) :83469 2136 79665 251636 144 370348 162210 162091 2591 534 447877 99966 1338 201 744 615109 247806 175100 189427 614327 221061 609265 155255 601200 613001 79474 259770 276300 607174 647 251260 162200 637 101000 249400 454840 616415 610832 615108 602501 77301 109400 109 158350 609322 2807 193300 902 277700 99803 500 443167 155755 2754 277170 276399 137800 29072 1606 672 146510 373 163634 480536 617100 601321 256700 311200 180200 601399 115310 798 206900 805 191100 613254 892 1827 306542 391474 136760 209880 661 2505 2151 613013 156610

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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