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:
Abnormality of the liver (HP:0001392)

Grandparent Node:
Neoplasm of the gastrointestinal tract (HP:0007378)

Parent Node:
Embryonal neoplasm (HP:0002898)

Parent Node:
Neoplasm of the liver (HP:0002896)

..Starting node
..Hepatoblastoma (HP:0002884)

Term ID:

2884

Name:

Hepatoblastoma

Synonym:

Definition:

A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.

Comments:

Reference:

HP:0002884

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic hemangioma (HP:0031207)

Hepatocellular adenoma (HP:0012028)

Hepatocellular carcinoma (HP:0001402)

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:0002884	HP:0002884	Hepatoblastoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0002884	HP:0002884	Hepatoblastoma	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040284 - Very rare	3179
HP:0002884	HP:0002884	Hepatoblastoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0002884	HP:0002884	Hepatoblastoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0002884	HP:0002884	Hepatoblastoma	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	88
HP:0002884	HP:0002884	Hepatoblastoma	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	219
HP:0002884	HP:0002884	Hepatoblastoma	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	25
HP:0002884	HP:0002884	Hepatoblastoma	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0002884	HP:0002884	Hepatoblastoma	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002884	HP:0002884	Hepatoblastoma	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002884	HP:0002884	Hepatoblastoma	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002884	HP:0002884	Hepatoblastoma	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002884	HP:0002884	Hepatoblastoma	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002884	HP:0002884	Hepatoblastoma	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002884	HP:0002884	Hepatoblastoma	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002884	HP:0002884	Hepatoblastoma	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002884	HP:0002884	Hepatoblastoma	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0002884	HP:0002884	Hepatoblastoma	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0002884	HP:0002884	Hepatoblastoma	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0002884	HP:0002884	Hepatoblastoma	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002884	HP:0002884	Hepatoblastoma	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002884	HP:0002884	Hepatoblastoma	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002884	HP:0002884	Hepatoblastoma	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002884	HP:0002884	Hepatoblastoma	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002884	HP:0002884	Hepatoblastoma	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002884	HP:0002884	Hepatoblastoma	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002884	HP:0002884	Hepatoblastoma	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0002884	HP:0002884	Hepatoblastoma	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	617
HP:0002884	HP:0002884	Hepatoblastoma	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	87
HP:0002884	HP:0002884	Hepatoblastoma	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	1
HP:0002884	HP:0002884	Hepatoblastoma	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002884	HP:0002884	Hepatoblastoma	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	47
HP:0002884	HP:0002884	Hepatoblastoma	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	14
HP:0002884	HP:0002884	Hepatoblastoma	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare

Genes (28) :APC ARID1A ARID1B ARID2 CDKN1C DLK1 DPF2 DZIP1L GPC3 GPC4 H19-ICR IGF2 KCNQ1 KCNQ1OT1 MEG3 PKHD1 RTL1 SETBP1 SKIC2 SKIC3 SLC37A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4

Diseases (14) :OMIM:175100 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:1465 OMIM:130650 ORPHA:96334 ORPHA:731 ORPHA:373 OMIM:312870 OMIM:269150 ORPHA:798 ORPHA:84064 OMIM:232240

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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