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
..Malformed lacrimal duct (HP:0007993)

Term ID:

7993

Name:

Malformed lacrimal duct

Synonym:

Malformed tear ducts

Definition:

Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.

Comments:

Reference:

HP:0007993

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic lacrimal duct (HP:0007900)

Lacrimal duct aplasia (HP:0007925)

Lacrimal duct atresia (HP:0000564)

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:0007993	HP:0007993	Malformed lacrimal duct	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0007993	HP:0007993	Malformed lacrimal duct	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0007993	HP:0007993	Malformed lacrimal duct	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0007993	HP:0007993	Malformed lacrimal duct	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80

Genes (3) :FRAS1 FREM2 GRIP1

Diseases (2) :ORPHA:2052 OMIM:219000

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