Human Phenotype Ontology

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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:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Primitive neuroectodermal tumor (HP:0030065)

..Starting node
..Peripheral primitive neuroectodermal neoplasm (HP:0030067)

Term ID:

30067

Name:

Peripheral primitive neuroectodermal neoplasm

Synonym:

Definition:

A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.

Comments:

Reference:

HP:0030067

Genes and Diseases:

Child Nodes:

........

Neuroblastoma (HP:0003006)

................... HP:0006742 Congenital neuroblastoma
................... HP:0006747 Ganglioneuroblastoma
................... HP:0006768 Localized neuroblastoma
................... HP:0030068 Olfactory esthesioneuroblastoma

Sister Nodes:

Central primitive neuroectodermal tumor (HP:0030070)

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:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome		5
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome		67
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040280 - Obligate	8
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome		59
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome		86
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0030067	HP:0030067	Peripheral primitive neuroectodermal neoplasm	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0030067	HP:0003006	Neuroblastoma	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0030067	HP:0003006	Neuroblastoma	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	15
HP:0030067	HP:0003006	Neuroblastoma	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	5
HP:0030067	HP:0003006	Neuroblastoma	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0030067	HP:0003006	Neuroblastoma	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0030067	HP:0003006	Neuroblastoma	1	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0030067	HP:0003006	Neuroblastoma	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0030067	HP:0003006	Neuroblastoma	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	67
HP:0030067	HP:0003006	Neuroblastoma	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0030067	HP:0003006	Neuroblastoma	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0030067	HP:0003006	Neuroblastoma	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0030067	HP:0003006	Neuroblastoma	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	59
HP:0030067	HP:0003006	Neuroblastoma	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0030067	HP:0003006	Neuroblastoma	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0030067	HP:0003006	Neuroblastoma	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0030067	HP:0003006	Neuroblastoma	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0030067	HP:0003006	Neuroblastoma	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0030067	HP:0003006	Neuroblastoma	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0030067	HP:0003006	Neuroblastoma	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0030067	HP:0003006	Neuroblastoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0030067	HP:0003006	Neuroblastoma	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0030067	HP:0003006	Neuroblastoma	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0030067	HP:0003006	Neuroblastoma	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0030067	HP:0003006	Neuroblastoma	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030067	HP:0003006	Neuroblastoma	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0030067	HP:0003006	Neuroblastoma	1	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0030067	HP:0003006	Neuroblastoma	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	HP:0040283 - Occasional	1349
HP:0030067	HP:0003006	Neuroblastoma	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0030067	HP:0003006	Neuroblastoma	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	86
HP:0030067	HP:0003006	Neuroblastoma	1	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0030067	HP:0003006	Neuroblastoma	1	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0030067	HP:0003006	Neuroblastoma	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	86
HP:0030067	HP:0003006	Neuroblastoma	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0030067	HP:0003006	Neuroblastoma	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0030067	HP:0003006	Neuroblastoma	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0030067	HP:0003006	Neuroblastoma	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0030067	HP:0003006	Neuroblastoma	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0030067	HP:0003006	Neuroblastoma	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0030067	HP:0003006	Neuroblastoma	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0030067	HP:0003006	Neuroblastoma	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	572
HP:0030067	HP:0003006	Neuroblastoma	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0030067	HP:0003006	Neuroblastoma	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0030067	HP:0003006	Neuroblastoma	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	HP:0040283 - Occasional	237
HP:0030067	HP:0003006	Neuroblastoma	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0030067	HP:0003006	Neuroblastoma	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0030067	HP:0003006	Neuroblastoma	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0030067	HP:0003006	Neuroblastoma	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0030067	HP:0003006	Neuroblastoma	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0030067	HP:0003006	Neuroblastoma	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0030067	HP:0003006	Neuroblastoma	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0030067	HP:0003006	Neuroblastoma	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0030067	HP:0003006	Neuroblastoma	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0030067	HP:0030068	Olfactory esthesioneuroblastoma	2	CL E G H
HP:0030067	HP:0006742	Congenital neuroblastoma	2	CL E G H
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	5
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	67
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	59
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0030067	HP:0006768	Localized neuroblastoma	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent	86
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0030067	HP:0006747	Ganglioneuroblastoma	2	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	86
HP:0030067	HP:0006768	Localized neuroblastoma	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0030067	HP:0006768	Localized neuroblastoma	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14

Genes (53) :APC2 ASCL1 BDNF BMPR1A BRAF BRD4 CASZ1 EDN3 EPCAM FAN1 FLI1 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 (22) :ORPHA:821 ORPHA:99803 ORPHA:661 ORPHA:440437 ORPHA:500 ORPHA:443167 ORPHA:1606 ORPHA:144 ORPHA:370348 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.

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