Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormality of nervous system morphology (HP:0012639)help
Parent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the nervous system (HP:0004375)help
Term ID: 4375
Name: Neoplasm of the nervous system
Synonym: Neoplasia of the nervous system; Nervous system cancer; Tumor of the nervous system
Definition: A tumor (abnormal growth of tissue) of the nervous system.
Comments:
Reference: HP:0004375
Genes and Diseases:
 
       Child Nodes:
........expandNeoplasm of the central nervous system (HP:0100006) help
................... HP:0010302 Spinal cord tumor
................... HP:0025170 Neuronal/glioneuronal neoplasm of the central nervous system
................... HP:0030692 Brain neoplasm
................... HP:0100835 Benign neoplasm of the central nervous system
................... HP:0100836 Malignant neoplasm of the central nervous system
........expandNeoplasm of the peripheral nervous system (HP:0100007) help
................... HP:0001067 Neurofibromas
................... HP:0006717 Peripheral neuroepithelioma
................... HP:0030430 Neuroma
................... HP:0030450 Neuroplasm of the autonomic nervous system
................... HP:0100008 Schwannoma
................... HP:0100634 Neuroendocrine neoplasm

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004375HP:0004375Neoplasm of the nervous system0ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system0HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system0L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system0LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system0LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system0MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system0PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system0TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system1ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system1HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system1L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system1LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system1LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system1MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system1PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system1TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system2ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system2CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system2CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system2HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system2L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system2LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system2LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system2MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system2MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system2PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system2TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system2TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system3ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system3CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system3CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system3HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system3L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system3LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system3LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system3MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system3MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system3PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system3TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system3TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system4ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system4CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system4CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system4HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system4L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system4LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system4LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system4MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system4MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system4PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system4TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system4TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system5ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system5CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system5CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system5HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system5L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system5LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system5LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system5MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system5MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system5PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system5TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system5TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0004375HP:0004375Neoplasm of the nervous system6ALK CL E G H238635ORPHA115427105590
HP:0004375HP:0004375Neoplasm of the nervous system6CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0004375HP:0004375Neoplasm of the nervous system6CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0004375HP:0004375Neoplasm of the nervous system6HACE1 CL E G H57531635ORPHA11321033610876
HP:0004375HP:0004375Neoplasm of the nervous system6L2HGDH CL E G H7994479314ORPHA18120499609584
HP:0004375HP:0004375Neoplasm of the nervous system6LIN28B CL E G H389421635ORPHA1232207611044
HP:0004375HP:0004375Neoplasm of the nervous system6LMO1 CL E G H4004635ORPHA116641186921
HP:0004375HP:0004375Neoplasm of the nervous system6MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0004375HP:0004375Neoplasm of the nervous system6MYCN CL E G H4613635ORPHA1467559164840
HP:0004375HP:0004375Neoplasm of the nervous system6PHOX2B CL E G H8929635ORPHA1889143603851
HP:0004375HP:0004375Neoplasm of the nervous system6TOP2A CL E G H7153635ORPHA1111989126430
HP:0004375HP:0004375Neoplasm of the nervous system6TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004375HP:0004375Neoplasm of the nervous system0APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system0NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system0SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system1APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system1NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system1SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system2APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system2NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system2SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system3APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system3NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system3SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system4APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system4NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system4SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system5APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system5NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system5SETD2 CL E G H29072821ORPHA01918420612778
HP:0004375HP:0004375Neoplasm of the nervous system6APC2 CL E G H10297821ORPHA0324036612034
HP:0004375HP:0004375Neoplasm of the nervous system6NSD1 CL E G H64324821ORPHA052514234606681
HP:0004375HP:0004375Neoplasm of the nervous system6SETD2 CL E G H29072821ORPHA01918420612778


Genes (140) :ADAMTS3 AKT1 ALK ALX1 ALX3 APC APC2 ARMC5 ASCL1 ATRX BAP1 BDNF BRAF BRD4 C11ORF95 CCBE1 CCM2 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CPLANE1 CTNNB1 DAXX DICER1 EDN3 EPCAM ERBB2 EWSR1 FAN1 FAT4 FGFR1 FH FLI1 GABRD GCGR GDNF GLI3 GNAS GPC3 GPC4 HACE1 HRAS IDH1 IDH2 KARS KCNAB2 KEAP1 KIAA0753 KIF1B KIF7 KIT KLLN KRAS KRIT1 L2HGDH LIN28B LMNA LMO1 LRP5 MAFA MAPRE2 MAX MDH2 MDM2 MEN1 MLH1 MLH3 MN1 MSH2 MSH3 MSH6 MYCN MYO1H NBN NF1 NF2 NME1 NOTCH3 NRAS NSD1 NTHL1 NUTM1 OCRL OFD1 PALB2 PDCD10 PDE6D PDGFB PDGFRA PDGFRB PHOX2B PIK3CA PMS1 PMS2 POLD1 POLE PRDM16 PRKAR1A PTCH1 PTCH2 PTEN PTPN11 RAF1 RB1 RELA RERE RET RNF43 RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SETBP1 SETD2 SIX6 SKI SMARCB1 SOX2 SPRED1 SUFU TCTN3 TGFBR2 TMEM127 TMEM216 TOP2A TP53 TSC1 TSC2 TUBB VHL WDPCP WRN WT1 ZSWIM6

Diseases (118) :635 821 524 79314 83469 2136 79665 251636 221061 144 370348 606764 97279 193520 162210 162091 2591 534 447877 160980 157798 99966 611431 1338 201 744 615109 247806 175100 189427 209880 99803 100075 614327 661 652 610755 609265 155255 601200 613001 218040 613641 171300 79474 259770 131100 276300 607174 647 251260 162200 601321 637 101000 256700 249400 454840 616415 610832 613013 615108 602501 1359 77301 109400 109 158350 171400 162300 614165 97286 606864 100093 609322 2807 892 193300 902 277700 500 443167 276152 155755 2754 277170 276399 137800 29072 1606 438274 672 146510 373 163634 363618 480536 617100 311200 180200 601399 601650 115310 605373 168000 798 206900 805 191100 613254 1827 306542 391474 136760 147630 2505 2151 156610
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.