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:
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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000498	HP:0000498	Blepharitis	0	ADAM17 CL E G H	6868	614328	Inflammatory skin and bowel disease, neonatal 1	614328	C3280501	OMIM	1	7	195	603639
HP:0000498	HP:0000498	Blepharitis	0	APOE CL E G H	348	158029				ORPHA	1	64	613	107741
HP:0000498	HP:0000498	Blepharitis	0	COL7A1 CL E G H	1294	79408				ORPHA	1	828	2214	120120
HP:0000498	HP:0000498	Blepharitis	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	0	GJB6 CL E G H	10804	129500	Hidrotic ectodermal dysplasia syndrome	129500	C0162361	OMIM	1	34	4288	604418
HP:0000498	HP:0000498	Blepharitis	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	13315	300269
HP:0000498	HP:0000498	Blepharitis	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	7132	159555
HP:0000498	HP:0000498	Blepharitis	0	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	0	MMP1 CL E G H	4312	79408				ORPHA	1	8	7155	120353
HP:0000498	HP:0000498	Blepharitis	0	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	4	10545	607545
HP:0000498	HP:0000498	Blepharitis	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	28862	608667
HP:0000498	HP:0000498	Blepharitis	0	PKP1 CL E G H	5317	158668				ORPHA	1	18	9023	601975
HP:0000498	HP:0000498	Blepharitis	0	PLCD1 CL E G H	5333	2387	Friedman Goodman syndrome			ORPHA	1	12	9060	602142
HP:0000498	HP:0000498	Blepharitis	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	9811	606462
HP:0000498	HP:0000498	Blepharitis	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	25566	615743
HP:0000498	HP:0000498	Blepharitis	0	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	52	17129	607059
HP:0000498	HP:0000498	Blepharitis	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	11111	300040
HP:0000498	HP:0000498	Blepharitis	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	2468	606062
HP:0000498	HP:0000498	Blepharitis	0	ST14 CL E G H	6768	602400	Ichthyosis, congenital, autosomal recessive 11	602400	C1865595	OMIM	1	9	11344	606797
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	C1858562	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	0	TRAF3IP2 CL E G H	10758	615527	Candidiasis, familial, 8	615527	C3714992	OMIM	1	5	1343	607043
HP:0000498	HP:0000498	Blepharitis	0	USB1 CL E G H	79650	604173	Poikiloderma with neutropenia	604173	C1858723	OMIM	1	22	25792	613276
HP:0000498	HP:0000498	Blepharitis	1	ADAM17 CL E G H	6868	614328	Inflammatory skin and bowel disease, neonatal 1	614328	C3280501	OMIM	1	7	195	603639
HP:0000498	HP:0000498	Blepharitis	1	APOE CL E G H	348	158029				ORPHA	1	64	613	107741
HP:0000498	HP:0000498	Blepharitis	1	COL7A1 CL E G H	1294	79408				ORPHA	1	828	2214	120120
HP:0000498	HP:0000498	Blepharitis	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	1	GJB6 CL E G H	10804	129500	Hidrotic ectodermal dysplasia syndrome	129500	C0162361	OMIM	1	34	4288	604418
HP:0000498	HP:0000498	Blepharitis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	13315	300269
HP:0000498	HP:0000498	Blepharitis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	7132	159555
HP:0000498	HP:0000498	Blepharitis	1	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	1	MMP1 CL E G H	4312	79408				ORPHA	1	8	7155	120353
HP:0000498	HP:0000498	Blepharitis	1	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	4	10545	607545
HP:0000498	HP:0000498	Blepharitis	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	28862	608667
HP:0000498	HP:0000498	Blepharitis	1	PKP1 CL E G H	5317	158668				ORPHA	1	18	9023	601975
HP:0000498	HP:0000498	Blepharitis	1	PLCD1 CL E G H	5333	2387	Friedman Goodman syndrome			ORPHA	1	12	9060	602142
HP:0000498	HP:0000498	Blepharitis	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	9811	606462
HP:0000498	HP:0000498	Blepharitis	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	25566	615743
HP:0000498	HP:0000498	Blepharitis	1	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	52	17129	607059
HP:0000498	HP:0000498	Blepharitis	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	11111	300040
HP:0000498	HP:0000498	Blepharitis	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	2468	606062
HP:0000498	HP:0000498	Blepharitis	1	ST14 CL E G H	6768	602400	Ichthyosis, congenital, autosomal recessive 11	602400	C1865595	OMIM	1	9	11344	606797
HP:0000498	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	C1858562	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	1	TRAF3IP2 CL E G H	10758	615527	Candidiasis, familial, 8	615527	C3714992	OMIM	1	5	1343	607043
HP:0000498	HP:0000498	Blepharitis	1	USB1 CL E G H	79650	604173	Poikiloderma with neutropenia	604173	C1858723	OMIM	1	22	25792	613276
HP:0000498	HP:0000498	Blepharitis	2	ADAM17 CL E G H	6868	614328	Inflammatory skin and bowel disease, neonatal 1	614328	C3280501	OMIM	1	7	195	603639
HP:0000498	HP:0000498	Blepharitis	2	APOE CL E G H	348	158029				ORPHA	1	64	613	107741
HP:0000498	HP:0000498	Blepharitis	2	COL7A1 CL E G H	1294	79408				ORPHA	1	828	2214	120120
HP:0000498	HP:0000498	Blepharitis	2	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	2	GJB6 CL E G H	10804	129500	Hidrotic ectodermal dysplasia syndrome	129500	C0162361	OMIM	1	34	4288	604418
HP:0000498	HP:0000498	Blepharitis	2	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	13315	300269
HP:0000498	HP:0000498	Blepharitis	2	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	7132	159555
HP:0000498	HP:0000498	Blepharitis	2	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	2	MMP1 CL E G H	4312	79408				ORPHA	1	8	7155	120353
HP:0000498	HP:0000498	Blepharitis	2	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	4	10545	607545
HP:0000498	HP:0000498	Blepharitis	2	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	28862	608667
HP:0000498	HP:0000498	Blepharitis	2	PKP1 CL E G H	5317	158668				ORPHA	1	18	9023	601975
HP:0000498	HP:0000498	Blepharitis	2	PLCD1 CL E G H	5333	2387	Friedman Goodman syndrome			ORPHA	1	12	9060	602142
HP:0000498	HP:0000498	Blepharitis	2	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	9811	606462
HP:0000498	HP:0000498	Blepharitis	2	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	25566	615743
HP:0000498	HP:0000498	Blepharitis	2	SLC39A4 CL E G H	55630	37	Chromosome 3, monosomy 3p		C0795806	ORPHA	1	52	17129	607059
HP:0000498	HP:0000498	Blepharitis	2	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	11111	300040
HP:0000498	HP:0000498	Blepharitis	2	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	2468	606062
HP:0000498	HP:0000498	Blepharitis	2	ST14 CL E G H	6768	602400	Ichthyosis, congenital, autosomal recessive 11	602400	C1865595	OMIM	1	9	11344	606797
HP:0000498	HP:0000498	Blepharitis	2	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	2	TP63 CL E G H	8626	604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	C1858562	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	2	TP63 CL E G H	8626	106260	Hay-Wells syndrome of ectodermal dysplasia	106260	C0406709	OMIM	1	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	2	TRAF3IP2 CL E G H	10758	615527	Candidiasis, familial, 8	615527	C3714992	OMIM	1	5	1343	607043
HP:0000498	HP:0000498	Blepharitis	2	USB1 CL E G H	79650	604173	Poikiloderma with neutropenia	604173	C1858723	OMIM	1	22	25792	613276
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000498	HP:0000498	Blepharitis	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	34	26169	613129
HP:0000498	HP:0000498	Blepharitis	0	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	0	17	2718	600811
HP:0000498	HP:0000498	Blepharitis	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	0	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	0	108	3434	126340
HP:0000498	HP:0000498	Blepharitis	0	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	0	20	3435	133510
HP:0000498	HP:0000498	Blepharitis	0	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	0	72	3436	133520
HP:0000498	HP:0000498	Blepharitis	0	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	0	59	3437	133530
HP:0000498	HP:0000498	Blepharitis	0	GATA1 CL E G H	2623	79277				ORPHA	0	15	4170	305371
HP:0000498	HP:0000498	Blepharitis	0	MBTPS2 CL E G H	51360	2273	Fara Chlupackova syndrome			ORPHA	0	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	3	14377	606470
HP:0000498	HP:0000498	Blepharitis	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1	14378	606471
HP:0000498	HP:0000498	Blepharitis	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	29	8609	604212
HP:0000498	HP:0000498	Blepharitis	0	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	34	8967	606097
HP:0000498	HP:0000498	Blepharitis	0	PLXND1 CL E G H	23129	570				ORPHA	0	8	9107	604282
HP:0000498	HP:0000498	Blepharitis	0	REV3L CL E G H	5980	570				ORPHA	0	9	9968	602776
HP:0000498	HP:0000498	Blepharitis	0	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	54	15888	608833
HP:0000498	HP:0000498	Blepharitis	0	TBX4 CL E G H	9496	261279				ORPHA	0	59	11603	601719
HP:0000498	HP:0000498	Blepharitis	0	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	74	11727	602322
HP:0000498	HP:0000498	Blepharitis	0	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	173	11730	187270
HP:0000498	HP:0000498	Blepharitis	0	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	42	11824	604319
HP:0000498	HP:0000498	Blepharitis	0	TP63 CL E G H	8626	69085				ORPHA	0	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	0	UROS CL E G H	7390	79277				ORPHA	0	51	12592	606938
HP:0000498	HP:0000498	Blepharitis	0	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	22	25792	613276
HP:0000498	HP:0000498	Blepharitis	0	WAS CL E G H	7454	906				ORPHA	0	441	12731	300392
HP:0000498	HP:0000498	Blepharitis	0	WIPF1 CL E G H	7456	906				ORPHA	0	3	12736	602357
HP:0000498	HP:0000498	Blepharitis	0	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	7	25522	612661
HP:0000498	HP:0000498	Blepharitis	0	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	0	51	12814	611153
HP:0000498	HP:0000498	Blepharitis	0	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	0	100	12816	613208
HP:0000498	HP:0000498	Blepharitis	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	34	26169	613129
HP:0000498	HP:0000498	Blepharitis	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	0	17	2718	600811
HP:0000498	HP:0000498	Blepharitis	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	0	108	3434	126340
HP:0000498	HP:0000498	Blepharitis	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	0	20	3435	133510
HP:0000498	HP:0000498	Blepharitis	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	0	72	3436	133520
HP:0000498	HP:0000498	Blepharitis	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	0	59	3437	133530
HP:0000498	HP:0000498	Blepharitis	1	GATA1 CL E G H	2623	79277				ORPHA	0	15	4170	305371
HP:0000498	HP:0000498	Blepharitis	1	MBTPS2 CL E G H	51360	2273	Fara Chlupackova syndrome			ORPHA	0	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	3	14377	606470
HP:0000498	HP:0000498	Blepharitis	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1	14378	606471
HP:0000498	HP:0000498	Blepharitis	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	29	8609	604212
HP:0000498	HP:0000498	Blepharitis	1	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	34	8967	606097
HP:0000498	HP:0000498	Blepharitis	1	PLXND1 CL E G H	23129	570				ORPHA	0	8	9107	604282
HP:0000498	HP:0000498	Blepharitis	1	REV3L CL E G H	5980	570				ORPHA	0	9	9968	602776
HP:0000498	HP:0000498	Blepharitis	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	54	15888	608833
HP:0000498	HP:0000498	Blepharitis	1	TBX4 CL E G H	9496	261279				ORPHA	0	59	11603	601719
HP:0000498	HP:0000498	Blepharitis	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	74	11727	602322
HP:0000498	HP:0000498	Blepharitis	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	173	11730	187270
HP:0000498	HP:0000498	Blepharitis	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	42	11824	604319
HP:0000498	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	69085				ORPHA	0	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	1	UROS CL E G H	7390	79277				ORPHA	0	51	12592	606938
HP:0000498	HP:0000498	Blepharitis	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	22	25792	613276
HP:0000498	HP:0000498	Blepharitis	1	WAS CL E G H	7454	906				ORPHA	0	441	12731	300392
HP:0000498	HP:0000498	Blepharitis	1	WIPF1 CL E G H	7456	906				ORPHA	0	3	12736	602357
HP:0000498	HP:0000498	Blepharitis	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	7	25522	612661
HP:0000498	HP:0000498	Blepharitis	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	0	51	12814	611153
HP:0000498	HP:0000498	Blepharitis	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	0	100	12816	613208
HP:0000498	HP:0000498	Blepharitis	2	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	34	26169	613129
HP:0000498	HP:0000498	Blepharitis	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	0	17	2718	600811
HP:0000498	HP:0000498	Blepharitis	2	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	75	2890	300126
HP:0000498	HP:0000498	Blepharitis	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	0	108	3434	126340
HP:0000498	HP:0000498	Blepharitis	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	0	20	3435	133510
HP:0000498	HP:0000498	Blepharitis	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	0	72	3436	133520
HP:0000498	HP:0000498	Blepharitis	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	0	59	3437	133530
HP:0000498	HP:0000498	Blepharitis	2	GATA1 CL E G H	2623	79277				ORPHA	0	15	4170	305371
HP:0000498	HP:0000498	Blepharitis	2	MBTPS2 CL E G H	51360	2273	Fara Chlupackova syndrome			ORPHA	0	26	15455	300294
HP:0000498	HP:0000498	Blepharitis	2	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	3	14377	606470
HP:0000498	HP:0000498	Blepharitis	2	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1	14378	606471
HP:0000498	HP:0000498	Blepharitis	2	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	29	8609	604212
HP:0000498	HP:0000498	Blepharitis	2	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	34	8967	606097
HP:0000498	HP:0000498	Blepharitis	2	PLXND1 CL E G H	23129	570				ORPHA	0	8	9107	604282
HP:0000498	HP:0000498	Blepharitis	2	REV3L CL E G H	5980	570				ORPHA	0	9	9968	602776
HP:0000498	HP:0000498	Blepharitis	2	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	54	15888	608833
HP:0000498	HP:0000498	Blepharitis	2	TBX4 CL E G H	9496	261279				ORPHA	0	59	11603	601719
HP:0000498	HP:0000498	Blepharitis	2	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	74	11727	602322
HP:0000498	HP:0000498	Blepharitis	2	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	173	11730	187270
HP:0000498	HP:0000498	Blepharitis	2	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	42	11824	604319
HP:0000498	HP:0000498	Blepharitis	2	TP63 CL E G H	8626	69085				ORPHA	0	128	15979	603273
HP:0000498	HP:0000498	Blepharitis	2	UROS CL E G H	7390	79277				ORPHA	0	51	12592	606938
HP:0000498	HP:0000498	Blepharitis	2	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	22	25792	613276
HP:0000498	HP:0000498	Blepharitis	2	WAS CL E G H	7454	906				ORPHA	0	441	12731	300392
HP:0000498	HP:0000498	Blepharitis	2	WIPF1 CL E G H	7456	906				ORPHA	0	3	12736	602357
HP:0000498	HP:0000498	Blepharitis	2	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	7	25522	612661
HP:0000498	HP:0000498	Blepharitis	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	0	51	12814	611153
HP:0000498	HP:0000498	Blepharitis	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	0	100	12816	613208

Genes (46) :ADAM17 APOE COL7A1 CTC1 DDB2 DKC1 ERCC2 ERCC3 ERCC4 ERCC5 GATA1 GJB6 HDAC8 KMT2A MBTPS2 MMP1 MSMO1 NHP2 NIPBL NOP10 PARN PIGN PKP1 PLCD1 PLXND1 RAD21 REV3L RTEL1 SETD5 SLC39A4 SMC1A SMC3 ST14 TBX4 TERC TERT TINF2 TP63 TRAF3IP2 UROS USB1 WAS WIPF1 WRAP53 XPA XPC

Diseases (27) :614328 158029 79408 1775 910 305000 79277 129500 199 2273 308800 616834 280633 158668 2387 570 37 602400 261279 69085 1896 604292 106260 615527 604173 906 300918

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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