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:
Abnormality of frontal sinus (HP:0002687)

Grandparent Node:
Aplasia/Hypoplasia involving the sinuses (HP:0009120)

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

..Starting node
..Absent frontal sinuses (HP:0002688)

Term ID:

2688

Name:

Absent frontal sinuses

Synonym:

Absence of frontal sinuses; Absent frontal sinus; Aplasia of frontal sinus; Aplasia sinus frontalis; Missing frontal sinus

Definition:

Aplasia of frontal sinus.

Comments:

Reference:

HP:0002688

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic frontal sinuses (HP:0002738)

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:0002688	HP:0002688	Absent frontal sinuses	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0002688	HP:0002688	Absent frontal sinuses	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0002688	HP:0002688	Absent frontal sinuses	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0002688	HP:0002688	Absent frontal sinuses	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0002688	HP:0002688	Absent frontal sinuses	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002688	HP:0002688	Absent frontal sinuses	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002688	HP:0002688	Absent frontal sinuses	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002688	HP:0002688	Absent frontal sinuses	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002688	HP:0002688	Absent frontal sinuses	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002688	HP:0002688	Absent frontal sinuses	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78

Genes (8) :ATRX COL11A1 CTSK DNAI1 FLNA NOTCH2 RUNX2 TRIM37

Diseases (10) :OMIM:301040 OMIM:154780 OMIM:265800 OMIM:244400 OMIM:305620 OMIM:311300 OMIM:102500 ORPHA:955 OMIM:119600 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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