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 ocular adnexa morphology (HP:0030669)

Parent Node:
Abnormal nasolacrimal system morphology (HP:0000614)

..Starting node
..Abnormal lacrimal gland morphology (HP:0011482)

Term ID:

11482

Name:

Abnormal lacrimal gland morphology

Synonym:

Abnormality of the lacrimal gland

Definition:

Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.

Comments:

Reference:

HP:0011482

Genes and Diseases:

Child Nodes:

........

Enlarged lacrimal glands (HP:0007734)

........

Aplastic/hypoplastic lacrimal glands (HP:0008038)

................... HP:0007656 Lacrimal gland aplasia
................... HP:0007732 Lacrimal gland hypoplasia

Sister Nodes:

Abnormal lacrimal duct morphology (HP:0011481)

Abnormal lacrimal punctum morphology (HP:0011479)

Abnormal lacrimal sac morphology (HP:3000066)

Dacryocystitis (HP:0000620)

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:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands		17
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011482	HP:0011482	Abnormal lacrimal gland morphology	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0011482	HP:0007734	Enlarged lacrimal glands	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands		17
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011482	HP:0007734	Enlarged lacrimal glands	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0011482	HP:0007734	Enlarged lacrimal glands	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011482	HP:0008038	Aplastic/hypoplastic lacrimal glands	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0011482	HP:0007656	Lacrimal gland aplasia	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0011482	HP:0007732	Lacrimal gland hypoplasia	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	HP:0040283 - Occasional	61

Genes (10) :BTNL2 FGF10 FGFR2 FGFR3 FOXL2 GJB2 GJB6 HLA-DRB1 SLC25A24 SOX10

Diseases (9) :ORPHA:797 OMIM:180920 ORPHA:2363 OMIM:149730 ORPHA:572333 ORPHA:477 OMIM:181000 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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