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 ocular adnexa morphology (HP:0030669)

Parent Node:
Abnormal nasolacrimal system morphology (HP:0000614)

..Starting node
..Abnormal lacrimal duct morphology (HP:0011481)

Term ID:

11481

Name:

Abnormal lacrimal duct morphology

Synonym:

Abnormality of the lacrimal canaliculus; Abnormality of the lacrimal duct

Definition:

An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.

Comments:

Reference:

HP:0011481

Genes and Diseases:

Child Nodes:

........

Lacrimal duct atresia (HP:0000564)

........

Nasolacrimal duct obstruction (HP:0000579)

................... HP:0007678 Lacrimal duct stenosis
................... HP:0030752 Dacryocystocele
................... HP:0500048 Delayed canalization of nasolacrimal duct

........

Hypoplastic lacrimal duct (HP:0007900)

........

Lacrimal duct aplasia (HP:0007925)

........

Malformed lacrimal ducts (HP:0007993)

Sister Nodes:

Abnormal lacrimal gland morphology (HP:0011482)

Abnormal lacrimal punctum morphology (HP:0011479)

Abnormal lacrimal sac morphology (HP:3000066)

Dacryocystitis (HP:0000620)

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:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3		3
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011481	HP:0011481	Abnormal lacrimal duct morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0011481	HP:0007900	Hypoplastic lacrimal duct	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011481	HP:0007900	Hypoplastic lacrimal duct	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0011481	HP:0007900	Hypoplastic lacrimal duct	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011481	HP:0007900	Hypoplastic lacrimal duct	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011481	HP:0007993	Malformed lacrimal duct	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0011481	HP:0007993	Malformed lacrimal duct	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040282 - Frequent	198
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0011481	HP:0007993	Malformed lacrimal duct	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0011481	HP:0007993	Malformed lacrimal duct	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0011481	HP:0000564	Lacrimal duct atresia	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	.	3
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0011481	HP:0000564	Lacrimal duct atresia	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0011481	HP:0000564	Lacrimal duct atresia	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011481	HP:0000564	Lacrimal duct atresia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0011481	HP:0000564	Lacrimal duct atresia	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011481	HP:0000564	Lacrimal duct atresia	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0011481	HP:0000564	Lacrimal duct atresia	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0011481	HP:0007925	Lacrimal duct aplasia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011481	HP:0000579	Nasolacrimal duct obstruction	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0011481	HP:0500048	Delayed canalization of nasolacrimal duct	2	CL E G H
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011481	HP:0030752	Dacryocystocele	2	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011481	HP:0007678	Lacrimal duct stenosis	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7

Genes (42) :CD151 COL3A1 CREBBP EP300 EYA1 FGF10 FGFR2 FGFR3 FOXL2 FRAS1 FREM1 FREM2 GRIP1 HMX1 IGSF3 KAT6A KNSTRN MED12 MEGF8 NDUFB11 NHP2 NOP10 PAX1 PAX3 PIK3CD PPP1CB PRR12 PTDSS1 SIX1 SIX5 SMC3 SMCHD1 SOX6 SPRED2 TAF1 TCOF1 TET3 TFAP2A TP63 TRRAP USB1 YY1

Diseases (48) :OMIM:609057 ORPHA:286 OMIM:180849 ORPHA:353277 ORPHA:353284 ORPHA:107 OMIM:113650 ORPHA:2363 OMIM:149730 ORPHA:572333 ORPHA:2052 OMIM:219000 OMIM:248450 ORPHA:2717 OMIM:612109 OMIM:149700 OMIM:616268 ORPHA:457193 ORPHA:221139 OMIM:613328 OMIM:301068 OMIM:614976 OMIM:300952 OMIM:224230 OMIM:615560 ORPHA:1529 OMIM:617506 OMIM:619539 OMIM:151050 OMIM:608389 OMIM:610759 OMIM:603457 OMIM:618971 OMIM:619745 OMIM:300966 OMIM:154500 OMIM:618798 ORPHA:1297 OMIM:113620 ORPHA:978 OMIM:103285 OMIM:106260 OMIM:604292 OMIM:603543 ORPHA:69085 OMIM:618454 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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