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
..Lacrimal duct aplasia (HP:0007925)

Term ID:

7925

Name:

Lacrimal duct aplasia

Synonym:

Absent tear duct

Definition:

A congenital defect resulting in absence of the lacrimal duct.

Comments:

Reference:

HP:0007925

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic lacrimal duct (HP:0007900)

Lacrimal duct atresia (HP:0000564)

Malformed lacrimal duct (HP:0007993)

Nasolacrimal duct obstruction (HP:0000579)

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:0007925	HP:0007925	Lacrimal duct aplasia	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0007925	HP:0007925	Lacrimal duct aplasia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2

Genes (9) :EYA1 FGF10 FGFR2 FGFR3 FRAS1 FREM2 GRIP1 SIX1 TRRAP

Diseases (5) :OMIM:113650 ORPHA:2363 OMIM:219000 ORPHA:2052 OMIM:618454

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