Human Phenotype Ontology

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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 nasolacrimal system morphology (HP:0000614)

Parent Node:
Abnormal lacrimal duct morphology (HP:0011481)

..Starting node
..Nasolacrimal duct obstruction (HP:0000579)

Term ID:

579

Name:

Nasolacrimal duct obstruction

Synonym:

Blocked tear duct; Lacrimal duct obstruction

Definition:

Blockage of the lacrimal duct.

Comments:

Reference:

HP:0000579

Genes and Diseases:

Child Nodes:

........

Lacrimal duct stenosis (HP:0007678)

........

Dacryocystocele (HP:0030752)

........

Delayed canalization of nasolacrimal duct (HP:0500048)

Sister Nodes:

Hypoplastic lacrimal duct (HP:0007900)

Lacrimal duct aplasia (HP:0007925)

Lacrimal duct atresia (HP:0000564)

Malformed lacrimal duct (HP:0007993)

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:0000579	HP:0000579	Nasolacrimal duct obstruction	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040282 - Frequent	198
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000579	HP:0000579	Nasolacrimal duct obstruction	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000579	HP:0500048	Delayed canalization of nasolacrimal duct	1	CL E G H
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000579	HP:0030752	Dacryocystocele	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000579	HP:0007678	Lacrimal duct stenosis	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7

Genes (32) :CD151 CREBBP EP300 EYA1 FGF10 FGFR2 FGFR3 FREM1 HMX1 IGSF3 KAT6A KNSTRN MED12 MEGF8 NHP2 NOP10 PAX1 PIK3CD PPP1CB PRR12 PTDSS1 SIX1 SMC3 SOX6 SPRED2 TAF1 TCOF1 TET3 TFAP2A TP63 USB1 YY1

Diseases (35) :OMIM:609057 OMIM:180849 ORPHA:353277 ORPHA:353284 OMIM:113650 OMIM:149730 OMIM:248450 ORPHA:2717 OMIM:612109 OMIM:149700 OMIM:616268 ORPHA:457193 ORPHA:221139 OMIM:613328 OMIM:301068 OMIM:614976 OMIM:224230 OMIM:615560 OMIM:617506 OMIM:619539 OMIM:151050 OMIM:608389 OMIM:610759 OMIM:618971 OMIM:619745 OMIM:300966 OMIM:154500 OMIM:618798 ORPHA:1297 OMIM:113620 ORPHA:978 OMIM:103285 OMIM:604292 OMIM:604173 ORPHA:506358

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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