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)

Parent Node:
Abnormal liver sonography (HP:0031140)

..Starting node
..Abnormal hepatic echogenicity (HP:0031142)

Term ID:

31142

Name:

Abnormal hepatic echogenicity

Synonym:

Definition:

Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).

Comments:

Reference:

HP:0031142

Genes and Diseases:

Child Nodes:

........

Increased hepatic echogenicity (HP:0031141)

........

Decreased hepatic echogenicity (HP:0031143)

Sister Nodes:

Coarsened hepatic echotexture (HP:0031144)

Starry sky appearance on hepatic sonography (HP:0031145)

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:0031142	HP:0031142	Abnormal hepatic echogenicity	0	FOCAD CL E G H	54914	23377	OMIM:619991		3
HP:0031142	HP:0031142	Abnormal hepatic echogenicity	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0031142	HP:0031142	Abnormal hepatic echogenicity	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	53
HP:0031142	HP:0031142	Abnormal hepatic echogenicity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W	110
HP:0031142	HP:0031143	Decreased hepatic echogenicity	1	CL E G H
HP:0031142	HP:0031141	Increased hepatic echogenicity	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73
HP:0031142	HP:0031141	Increased hepatic echogenicity	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	53
HP:0031142	HP:0031141	Increased hepatic echogenicity	1	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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