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
..Hypoplastic frontal sinuses (HP:0002738)

Term ID:

2738

Name:

Hypoplastic frontal sinuses

Synonym:

Decreased pneumatization of frontal sinus; Decreased volume of frontal sinuses; Hypotrophic frontal sinus; Small frontal sinuses; Underdeveloped frontal sinuses

Definition:

Underdevelopment of frontal sinus.

Comments:

Reference:

HP:0002738

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent frontal sinuses (HP:0002688)

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:0002738	HP:0002738	Hypoplastic frontal sinuses	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent	493
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.	3
HP:0002738	HP:0002738	Hypoplastic frontal sinuses	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78

Genes (7) :AGA ALX3 COL11A1 FLNA RUNX2 SFRP4 TRIM37

Diseases (9) :OMIM:208400 OMIM:136760 ORPHA:391474 ORPHA:560 ORPHA:90650 ORPHA:90652 OMIM:119600 OMIM:265900 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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