Human Phenotype Ontology 
Grandparent Node:
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Primitive neuroectodermal tumor (HP:0030065)help
Parent Node:
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Neuroblastic tumor (HP:0004376)help
Parent Node:
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Peripheral primitive neuroectodermal neoplasm (HP:0030067)help
..Starting node
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Neuroblastoma (HP:0003006)help
Term ID: 3006
Name: Neuroblastoma
Synonym: Cancer of early nerve cells
Definition: Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Comments:
Reference: HP:0003006
Genes and Diseases:
 
       Child Nodes:
........expandCongenital neuroblastoma (HP:0006742) help
........expandGanglioneuroblastoma (HP:0006747) help
........expandLocalized neuroblastoma (HP:0006768) help
........expandOlfactory esthesioneuroblastoma (HP:0030068) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003006HP:0003006Neuroblastoma0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0003006HP:0003006Neuroblastoma0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040283 - Occasional15
HP:0003006HP:0003006Neuroblastoma0BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040283 - Occasional5
HP:0003006HP:0003006Neuroblastoma0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0003006HP:0003006Neuroblastoma0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0003006HP:0003006Neuroblastoma0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0003006HP:0003006Neuroblastoma0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0003006HP:0003006Neuroblastoma0EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040283 - Occasional67
HP:0003006HP:0003006Neuroblastoma0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0003006HP:0003006Neuroblastoma0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0003006HP:0003006Neuroblastoma0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0003006HP:0003006Neuroblastoma0GDNF CL E G H26684232ORPHA:661Ondine syndromeHP:0040283 - Occasional59
HP:0003006HP:0003006Neuroblastoma0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0003006HP:0003006Neuroblastoma0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0003006HP:0003006Neuroblastoma0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0003006HP:0003006Neuroblastoma0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0003006HP:0003006Neuroblastoma0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0003006HP:0003006Neuroblastoma0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0003006HP:0003006Neuroblastoma0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0003006HP:0003006Neuroblastoma0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 1.1819
HP:0003006HP:0003006Neuroblastoma0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0003006HP:0003006Neuroblastoma0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0003006HP:0003006Neuroblastoma0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0003006HP:0003006Neuroblastoma0MYO1H CL E G H28344613879ORPHA:661Ondine syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0003006HP:0003006Neuroblastoma0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0003006HP:0003006Neuroblastoma0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0003006HP:0003006Neuroblastoma0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group NHP:0040283 - Occasional1349
HP:0003006HP:0003006Neuroblastoma0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0003006HP:0003006Neuroblastoma0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040283 - Occasional86
HP:0003006HP:0003006Neuroblastoma0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0003006HP:0003006Neuroblastoma0PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0003006HP:0003006Neuroblastoma0PHOX2B CL E G H89299143ORPHA:661Ondine syndromeHP:0040283 - Occasional86
HP:0003006HP:0003006Neuroblastoma0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0003006HP:0003006Neuroblastoma0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0003006HP:0003006Neuroblastoma0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0003006HP:0003006Neuroblastoma0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0003006HP:0003006Neuroblastoma0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0003006HP:0003006Neuroblastoma0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0003006HP:0003006Neuroblastoma0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0003006HP:0003006Neuroblastoma0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040283 - Occasional572
HP:0003006HP:0003006Neuroblastoma0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0003006HP:0003006Neuroblastoma0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy.181
HP:0003006HP:0003006Neuroblastoma0SDHB CL E G H639010681OMIM:115310Paragangliomas 4HP:0040283 - Occasional237
HP:0003006HP:0003006Neuroblastoma0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0003006HP:0003006Neuroblastoma0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0003006HP:0003006Neuroblastoma0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0003006HP:0003006Neuroblastoma0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0003006HP:0003006Neuroblastoma0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0003006HP:0003006Neuroblastoma0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0003006HP:0003006Neuroblastoma0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0003006HP:0003006Neuroblastoma0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0003006HP:0003006Neuroblastoma0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0003006HP:0030068Olfactory esthesioneuroblastoma1 CL E G H
HP:0003006HP:0006742Congenital neuroblastoma1 CL E G H
HP:0003006HP:0006747Ganglioneuroblastoma1BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040283 - Occasional5
HP:0003006HP:0006747Ganglioneuroblastoma1EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040283 - Occasional67
HP:0003006HP:0006747Ganglioneuroblastoma1GDNF CL E G H26684232ORPHA:661Ondine syndromeHP:0040283 - Occasional59
HP:0003006HP:0006747Ganglioneuroblastoma1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0003006HP:0006768Localized neuroblastoma1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0003006HP:0006747Ganglioneuroblastoma1MYO1H CL E G H28344613879ORPHA:661Ondine syndromeHP:0040283 - Occasional
HP:0003006HP:0006747Ganglioneuroblastoma1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0003006HP:0006747Ganglioneuroblastoma1PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0003006HP:0006747Ganglioneuroblastoma1PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0003006HP:0006747Ganglioneuroblastoma1PHOX2B CL E G H89299143ORPHA:661Ondine syndromeHP:0040283 - Occasional86
HP:0003006HP:0006768Localized neuroblastoma1TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0003006HP:0006768Localized neuroblastoma1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14


Genes (52) :APC2 ASCL1 BDNF BMPR1A BRAF BRD4 CASZ1 EDN3 EPCAM FAN1 GABRD GDNF GPC3 GPC4 HSPG2 KCNAB2 KIF1B KRAS LUZP1 MAPRE2 MLH1 MLH3 MMP23B MSH2 MSH6 MYO1H NF1 NSD1 NUTM1 PALB2 PDPN PHOX2B PIK3CA PMS1 PMS2 PRDM16 PRKCZ PTPN11 RAF1 RERE RET RPS20 RUNX1 SDHB SEMA4A SETD2 SKI SPEN TGFBR2 TUBB UBE4B YY1

Diseases (21) :ORPHA:821 ORPHA:99803 ORPHA:661 ORPHA:440437 ORPHA:500 ORPHA:443167 ORPHA:1606 ORPHA:144 ORPHA:373 OMIM:256700 ORPHA:2505 OMIM:276300 OMIM:601321 OMIM:610832 OMIM:209880 ORPHA:2151 OMIM:613013 OMIM:601399 OMIM:115310 OMIM:156610 ORPHA:506358
 

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