Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 gland morphology (HP:0011482)

..Starting node
..Aplastic/hypoplastic lacrimal glands (HP:0008038)

Term ID:

8038

Name:

Aplastic/hypoplastic lacrimal glands

Synonym:

Absent/underdeveloped lacrimal glands; Absent/underdeveloped tear glands

Definition:

Absence or underdevelopment of the lacrimal gland.

Comments:

Reference:

HP:0008038

Genes and Diseases:

Child Nodes:

........

Lacrimal gland aplasia (HP:0007656)

........

Lacrimal gland hypoplasia (HP:0007732)

Sister Nodes:

Enlarged lacrimal glands (HP:0007734)

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:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands		17
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0008038	HP:0008038	Aplastic/hypoplastic lacrimal glands	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0008038	HP:0007656	Lacrimal gland aplasia	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008038	HP:0007732	Lacrimal gland hypoplasia	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	HP:0040283 - Occasional	61

Genes (8) :FGF10 FGFR2 FGFR3 FOXL2 GJB2 GJB6 SLC25A24 SOX10

Diseases (7) :OMIM:180920 OMIM:149730 ORPHA:2363 ORPHA:572333 ORPHA:477 OMIM:612289 OMIM:613266

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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