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 facial skeleton morphology (HP:0011821)

Parent Node:
Abnormal paranasal sinus morphology (HP:0000245)

..Starting node
..Abnormality of frontal sinus (HP:0002687)

Term ID:

2687

Name:

Abnormality of frontal sinus

Synonym:

Abnormality of sinus frontalis; Abnormality of the forehead sinus

Definition:

An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.

Comments:

Reference:

HP:0002687

Genes and Diseases:

Child Nodes:

........

Prominent frontal sinuses (HP:0005478)

........

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

................... HP:0002688 Absent frontal sinuses
................... HP:0002738 Hypoplastic frontal sinuses

Sister Nodes:

Abnormality of ethmoid sinus (HP:3000040)

Abnormality of the maxillary sinus (HP:0430023)

Abnormality of the sphenoid sinus (HP:0430022)

Advanced pneumatization of cranial sinuses (HP:0010540)

Aplasia/Hypoplasia involving the sinuses (HP:0009120)

Paranasal sinus neoplasm (HP:0030072)

Sinusitis (HP:0000246)

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:0002687	HP:0002687	Abnormality of frontal sinus	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0002687	HP:0002687	Abnormality of frontal sinus	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0002687	HP:0005478	Prominent frontal sinuses	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0002687	HP:0005478	Prominent frontal sinuses	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040281 - Very frequent	2
HP:0002687	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0002687	HP:0002688	Absent frontal sinuses	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0002687	HP:0002688	Absent frontal sinuses	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0002687	HP:0002688	Absent frontal sinuses	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0002687	HP:0002688	Absent frontal sinuses	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0002687	HP:0002688	Absent frontal sinuses	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent	493
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0002687	HP:0002688	Absent frontal sinuses	2	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002687	HP:0002688	Absent frontal sinuses	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002687	HP:0002688	Absent frontal sinuses	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002687	HP:0002688	Absent frontal sinuses	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0002687	HP:0002688	Absent frontal sinuses	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002687	HP:0002738	Hypoplastic frontal sinuses	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78

Genes (15) :AGA ALX1 ALX3 ATRX COL11A1 CTSK DNAI1 FLNA KCNJ2 MPDU1 NOTCH2 RUNX2 SFRP4 SIX2 TRIM37

Diseases (21) :OMIM:208400 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:301040 ORPHA:560 OMIM:154780 OMIM:265800 OMIM:244400 OMIM:305620 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:170390 ORPHA:79323 ORPHA:955 OMIM:102500 OMIM:119600 OMIM:265900 ORPHA:488437 OMIM:253250

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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