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 salivary gland morphology (HP:0010286)

Parent Node:
Abnormal parotid gland morphology (HP:0000197)

..Starting node
..Aplasia of the parotid gland (HP:0009740)

Term ID:

9740

Name:

Aplasia of the parotid gland

Synonym:

Abnormally small parotid gland; Absence of the parotid gland; Hypoplasia of parotid gland; Underdevelopment of parotid gland

Definition:

Absence of the parotid gland.

Comments:

Reference:

HP:0009740

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of Stensen duct (HP:0000198)

Enlargement of parotid gland (HP:0011801)

Parotitis (HP:0011850)

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:0009740	HP:0009740	Aplasia of the parotid gland	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009740	HP:0009740	Aplasia of the parotid gland	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009740	HP:0009740	Aplasia of the parotid gland	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145

Genes (3) :FGF10 FGFR2 FGFR3

Diseases (1) :OMIM:149730

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