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 paranasal sinus morphology (HP:0000245)

Parent Node:
Abnormality of frontal sinus (HP:0002687)

..Starting node
..Prominent frontal sinuses (HP:0005478)

Term ID:

5478

Name:

Prominent frontal sinuses

Synonym:

Hyperplasia of frontal sinus; Hypertrophy of frontal sinus; Increased size of frontal sinus; Increased volume of frontal sinus; Large frontal sinus

Definition:

Comments:

Reference:

HP:0005478

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)

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:0005478	HP:0005478	Prominent frontal sinuses	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0005478	HP:0005478	Prominent frontal sinuses	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32

Genes (2) :KCNJ2 MPDU1

Diseases (2) :OMIM:170390 ORPHA:79323

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