Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal eye physiology (HP:0012373)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Inflammatory abnormality of the eye (HP:0100533)

..Starting node
..Blepharitis (HP:0000498)

Term ID:

498

Name:

Blepharitis

Synonym:

Cellulitis of eyelids; Inflammation of eyelids

Definition:

Inflammation of the eyelids.

Comments:

Reference:

HP:0000498

Genes and Diseases:

Child Nodes:

........

Anterior blepharitis (HP:0025609)

........

Posterior blepharitis (HP:0025610)

................... HP:0500046 Seborrhoeic blepharitis

Sister Nodes:

Conjunctivitis (HP:0000509)

Episcleritis (HP:0100534)

Keratitis (HP:0000491)

Scleritis (HP:0100532)

Uveitis (HP:0000554)

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:0000498	HP:0000498	Blepharitis	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000498	HP:0000498	Blepharitis	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0000498	HP:0000498	Blepharitis	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0000498	HP:0000498	Blepharitis	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0000498	HP:0000498	Blepharitis	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000498	HP:0000498	Blepharitis	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0000498	HP:0000498	Blepharitis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0000498	HP:0000498	Blepharitis	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0000498	HP:0000498	Blepharitis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0000498	HP:0000498	Blepharitis	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000498	HP:0000498	Blepharitis	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0000498	HP:0000498	Blepharitis	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0000498	HP:0000498	Blepharitis	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0000498	HP:0000498	Blepharitis	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0000498	HP:0000498	Blepharitis	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0000498	HP:0000498	Blepharitis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000498	HP:0000498	Blepharitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000498	HP:0000498	Blepharitis	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0000498	HP:0000498	Blepharitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000498	HP:0000498	Blepharitis	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000498	HP:0000498	Blepharitis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000498	HP:0000498	Blepharitis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000498	HP:0000498	Blepharitis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0000498	HP:0000498	Blepharitis	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.	3
HP:0000498	HP:0000498	Blepharitis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0000498	HP:0000498	Blepharitis	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000498	HP:0000498	Blepharitis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0000498	HP:0000498	Blepharitis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0000498	HP:0000498	Blepharitis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0000498	HP:0000498	Blepharitis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000498	HP:0000498	Blepharitis	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040282 - Frequent	5
HP:0000498	HP:0000498	Blepharitis	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000498	HP:0000498	Blepharitis	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000498	HP:0000498	Blepharitis	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0000498	HP:0000498	Blepharitis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0000498	HP:0000498	Blepharitis	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0000498	HP:0000498	Blepharitis	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000498	HP:0000498	Blepharitis	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000498	HP:0000498	Blepharitis	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000498	HP:0000498	Blepharitis	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.	4
HP:0000498	HP:0000498	Blepharitis	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000498	HP:0000498	Blepharitis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0000498	HP:0000498	Blepharitis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0000498	HP:0000498	Blepharitis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0000498	HP:0000498	Blepharitis	0	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8	.	4
HP:0000498	HP:0000498	Blepharitis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0000498	HP:0000498	Blepharitis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000498	HP:0000498	Blepharitis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000498	HP:0000498	Blepharitis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0000498	HP:0000498	Blepharitis	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	.	8
HP:0000498	HP:0000498	Blepharitis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0000498	HP:0000498	Blepharitis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0000498	HP:0000498	Blepharitis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0000498	HP:0000498	Blepharitis	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0000498	HP:0000498	Blepharitis	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0000498	HP:0025609	Anterior blepharitis	1	CL E G H
HP:0000498	HP:0025610	Posterior blepharitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000498	HP:0025610	Posterior blepharitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000498	HP:0025610	Posterior blepharitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000498	HP:0025610	Posterior blepharitis	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0000498	HP:0025610	Posterior blepharitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000498	HP:0025610	Posterior blepharitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000498	HP:0025610	Posterior blepharitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000498	HP:0500046	Seborrhoeic blepharitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0000498	HP:0500046	Seborrhoeic blepharitis	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0000498	HP:0500046	Seborrhoeic blepharitis	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41

Genes (50) :ADAM17 APOE ARPC1B BRD4 CST6 CTC1 DDB2 DKC1 EGFR ERCC2 ERCC3 ERCC4 ERCC5 GATA1 GJB2 GJB6 HDAC8 MBTPS2 MSMO1 NHP2 NIPBL NOP10 NPM1 PARN PIGN PLCD1 PLXND1 RAD21 REV3L RTEL1 SLC39A4 SMC1A SMC3 SREBF1 ST14 TBX4 TERC TERT TINF2 TP63 TRAF3IP2 TYMS UROD UROS USB1 WAS WIPF1 WRAP53 XPA XPC

Diseases (31) :OMIM:614328 ORPHA:294023 ORPHA:158029 OMIM:617718 ORPHA:199 OMIM:618535 ORPHA:1775 ORPHA:910 OMIM:305000 ORPHA:79277 ORPHA:477 OMIM:129500 ORPHA:2273 OMIM:308800 OMIM:300918 OMIM:616834 ORPHA:280633 ORPHA:2387 ORPHA:570 ORPHA:37 OMIM:619016 OMIM:602400 ORPHA:261279 OMIM:106260 OMIM:604292 ORPHA:1896 ORPHA:69085 OMIM:615527 ORPHA:95159 OMIM:604173 ORPHA:906

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen