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 lacrimal gland morphology (HP:0011482)

Parent Node:
Aplastic/hypoplastic lacrimal glands (HP:0008038)

..Starting node
..Lacrimal gland hypoplasia (HP:0007732)

Term ID:

7732

Name:

Lacrimal gland hypoplasia

Synonym:

Hypoplastic lacrimal gland; Underdeveloped tear gland

Definition:

Underdevelopment of the lacrimal gland.

Comments:

Reference:

HP:0007732

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lacrimal gland aplasia (HP:0007656)

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:0007732	HP:0007732	Lacrimal gland hypoplasia	0	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0007732	HP:0007732	Lacrimal gland hypoplasia	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0007732	HP:0007732	Lacrimal gland hypoplasia	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0007732	HP:0007732	Lacrimal gland hypoplasia	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0007732	HP:0007732	Lacrimal gland hypoplasia	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0007732	HP:0007732	Lacrimal gland hypoplasia	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	HP:0040283 - Occasional	61

Genes (5) :FGF10 FGFR2 FGFR3 FOXL2 SOX10

Diseases (4) :OMIM:180920 OMIM:149730 ORPHA:572333 OMIM:613266

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