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:
Abnormality of the liver (HP:0001392)

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

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

..Starting node
..Hepatocellular adenoma (HP:0012028)

Term ID:

12028

Name:

Hepatocellular adenoma

Synonym:

Hepatic adenoma; Liver cell adenoma

Definition:

A benign tumor of the liver of presumably epithelial origin.

Comments:

Reference:

HP:0012028

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic hemangioma (HP:0031207)

Hepatoblastoma (HP:0002884)

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:0012028	HP:0012028	Hepatocellular adenoma	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare	245
HP:0012028	HP:0012028	Hepatocellular adenoma	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare	2
HP:0012028	HP:0012028	Hepatocellular adenoma	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare	75
HP:0012028	HP:0012028	Hepatocellular adenoma	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare	25
HP:0012028	HP:0012028	Hepatocellular adenoma	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare	237
HP:0012028	HP:0012028	Hepatocellular adenoma	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0012028	HP:0012028	Hepatocellular adenoma	0	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.	161
HP:0012028	HP:0012028	Hepatocellular adenoma	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare	161
HP:0012028	HP:0012028	Hepatocellular adenoma	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare	138
HP:0012028	HP:0012028	Hepatocellular adenoma	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare	62
HP:0012028	HP:0012028	Hepatocellular adenoma	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare	127
HP:0012028	HP:0012028	Hepatocellular adenoma	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare	78
HP:0012028	HP:0012028	Hepatocellular adenoma	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare	32
HP:0012028	HP:0012028	Hepatocellular adenoma	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare	55
HP:0012028	HP:0012028	Hepatocellular adenoma	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare	30
HP:0012028	HP:0012028	Hepatocellular adenoma	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0012028	HP:0012028	Hepatocellular adenoma	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0012028	HP:0012028	Hepatocellular adenoma	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0012028	HP:0012028	Hepatocellular adenoma	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110

Genes (18) :ABCC8 APPL1 BLK CEL GCK GNAS HNF1A HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PHKA2 PHKB PHKG2 SLC37A4

Diseases (6) :ORPHA:552 ORPHA:562 OMIM:142330 ORPHA:264580 ORPHA:79240 ORPHA:79259

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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