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:
Localized skin lesion (HP:0011355)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Skin nodule (HP:0200036)

..Starting node
..Nodular changes affecting the eyelids (HP:0010732)

Term ID:

10732

Name:

Nodular changes affecting the eyelids

Synonym:

Eyelid nodules

Definition:

Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.

Comments:

Reference:

HP:0010732

Genes and Diseases:

Child Nodes:

........

Xanthelasma (HP:0001114)

........

Cyst of the eyelid (HP:0010604)

................... HP:0010605 Chalazion

........

Hordeolum (HP:0010606)

................... HP:0010607 Hordeolum externum
................... HP:0010608 Hordeolum internum

Sister Nodes:

Acrokeratosis (HP:0200016)

Hyperpigmented nodule (HP:0025529)

Osteoma cutis (HP:0025027)

Subcutaneous nodule (HP:0001482)

Umbilicated nodule (HP:0025103)

Yellow nodule (HP:0025554)

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:0010732	HP:0010732	Nodular changes affecting the eyelids	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0010732	HP:0010732	Nodular changes affecting the eyelids	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0010732	HP:0010606	Hordeolum	1	CL E G H
HP:0010732	HP:0010604	Cyst of the eyelid	1	CL E G H
HP:0010732	HP:0001114	Xanthelasma	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0010732	HP:0001114	Xanthelasma	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0010732	HP:0001114	Xanthelasma	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0010732	HP:0001114	Xanthelasma	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0010732	HP:0001114	Xanthelasma	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2	.	356
HP:0010732	HP:0001114	Xanthelasma	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0010732	HP:0001114	Xanthelasma	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0010732	HP:0001114	Xanthelasma	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0010732	HP:0001114	Xanthelasma	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0010732	HP:0001114	Xanthelasma	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0010732	HP:0001114	Xanthelasma	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0010732	HP:0001114	Xanthelasma	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	HP:0040283 - Occasional	106
HP:0010732	HP:0001114	Xanthelasma	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0010732	HP:0001114	Xanthelasma	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0010732	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0010732	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0010732	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0010732	HP:0001114	Xanthelasma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0010732	HP:0001114	Xanthelasma	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0010732	HP:0010605	Chalazion	2	CL E G H
HP:0010732	HP:0010608	Hordeolum internum	2	CL E G H
HP:0010732	HP:0010607	Hordeolum externum	2	CL E G H

Genes (19) :ABCA1 ABCG8 APOA1 APOA2 APOB APOE CYP27A1 EPHX2 G6PC1 GHR LDLR LPL PCSK9 PDE11A PPP1R17 PRKAR1A SLC37A4 SPRED1 TTPA

Diseases (15) :ORPHA:425 OMIM:210250 OMIM:143890 OMIM:144010 ORPHA:412 OMIM:213700 OMIM:232200 OMIM:144250 OMIM:603776 ORPHA:1359 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:137605 OMIM:277460

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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