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
..Hypoplastic lacrimal duct (HP:0007900)

Term ID:

7900

Name:

Hypoplastic lacrimal duct

Synonym:

Underdeveloped tear duct

Definition:

Comments:

Reference:

HP:0007900

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lacrimal duct aplasia (HP:0007925)

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:0007900	HP:0007900	Hypoplastic lacrimal duct	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0007900	HP:0007900	Hypoplastic lacrimal duct	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0007900	HP:0007900	Hypoplastic lacrimal duct	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0007900	HP:0007900	Hypoplastic lacrimal duct	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145

Genes (4) :COL3A1 FGF10 FGFR2 FGFR3

Diseases (2) :ORPHA:286 OMIM:149730

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