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 abdominal organs (HP:0002012)

Parent Node:
Abnormality of the liver (HP:0001392)

..Starting node
..Abnormal liver sonography (HP:0031140)

Term ID:

31140

Name:

Abnormal liver sonography

Synonym:

Definition:

An abnormal appearance of the liver or any of its components on sonography (ultrasound).

Comments:

Reference:

HP:0031140

Genes and Diseases:

Child Nodes:

........

Abnormal hepatic echogenicity (HP:0031142)

................... HP:0031141 Increased hepatic echogenicity
................... HP:0031143 Decreased hepatic echogenicity

........

Coarsened hepatic echotexture (HP:0031144)

........

Starry sky appearance on hepatic sonography (HP:0031145)

Sister Nodes:

Abnormal liver morphology (HP:0410042)

Abnormal liver physiology (HP:0031865)

Abnormality of the biliary system (HP:0004297)

Neoplasm of the liver (HP:0002896)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031140	HP:0031140	Abnormal liver sonography	0	FOCAD CL E G H	54914	23377	OMIM:619991		3
HP:0031140	HP:0031140	Abnormal liver sonography	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0031140	HP:0031140	Abnormal liver sonography	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	53
HP:0031140	HP:0031140	Abnormal liver sonography	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W	110
HP:0031140	HP:0031145	Starry sky appearance on hepatic sonography	1	CL E G H
HP:0031140	HP:0031144	Coarsened hepatic echotexture	1	CL E G H
HP:0031140	HP:0031142	Abnormal hepatic echogenicity	1	FOCAD CL E G H	54914	23377	OMIM:619991		3
HP:0031140	HP:0031142	Abnormal hepatic echogenicity	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0031140	HP:0031142	Abnormal hepatic echogenicity	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	53
HP:0031140	HP:0031142	Abnormal hepatic echogenicity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W	110
HP:0031140	HP:0031143	Decreased hepatic echogenicity	2	CL E G H
HP:0031140	HP:0031141	Increased hepatic echogenicity	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0031140	HP:0031141	Increased hepatic echogenicity	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	53
HP:0031140	HP:0031141	Increased hepatic echogenicity	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W	110

Genes (4) :FOCAD LIPA PCK1 SLC37A4

Diseases (4) :OMIM:619991 OMIM:278000 OMIM:261680 OMIM:619525

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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