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 lacrimal duct morphology (HP:0011481)

Parent Node:
Nasolacrimal duct obstruction (HP:0000579)

..Starting node
..Lacrimal duct stenosis (HP:0007678)

Term ID:

7678

Name:

Lacrimal duct stenosis

Synonym:

Narrowing of the tear duct; Nasolacrimal duct stenosis

Definition:

Narrowing of a tear duct (lacrimal duct).

Comments:

Reference:

HP:0007678

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dacryocystocele (HP:0030752)

Delayed canalization of nasolacrimal duct (HP:0500048)

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:0007678	HP:0007678	Lacrimal duct stenosis	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS		1
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0007678	HP:0007678	Lacrimal duct stenosis	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7

Genes (15) :CD151 EYA1 KAT6A KNSTRN MED12 PAX1 PIK3CD PPP1CB PTDSS1 SIX1 SPRED2 TCOF1 TET3 TP63 YY1

Diseases (16) :OMIM:609057 OMIM:113650 OMIM:616268 ORPHA:457193 ORPHA:221139 OMIM:613328 OMIM:301068 OMIM:615560 OMIM:617506 OMIM:151050 OMIM:608389 OMIM:619745 OMIM:154500 OMIM:618798 OMIM:604292 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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