Human Phenotype Ontology 
Grandparent Node:
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Abnormal paranasal sinus morphology (HP:0000245)help
Grandparent Node:
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Aplasia/Hypoplasia involving bones of the skull (HP:0009116)help
Parent Node:
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Abnormality of frontal sinus (HP:0002687)help
Parent Node:
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Aplasia/Hypoplasia involving the sinuses (HP:0009120)help
..Starting node
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Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)help
Term ID: 9119
Name: Aplasia/Hypoplasia of the frontal sinuses
Synonym: Abnormally small frontal sinus
Definition: Absence or underdevelopment of frontal sinus.
Comments:
Reference: HP:0009119
Genes and Diseases:
 
       Child Nodes:
........expandAbsent frontal sinuses (HP:0002688) help
........expandHypoplastic frontal sinuses (HP:0002738) help

 Sister Nodes: 
..expandAbsent/hypoplastic paranasal sinuses (HP:0005453) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS39
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2493
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0SFRP4 CL E G H642410778OMIM:265900Pyle disease3
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasiaHP:0040281 - Very frequent2
HP:0009119HP:0009119Aplasia/Hypoplasia of the frontal sinuses0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0009119HP:0002738Hypoplastic frontal sinuses1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0009119HP:0002738Hypoplastic frontal sinuses1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0009119HP:0002738Hypoplastic frontal sinuses1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0009119HP:0002688Absent frontal sinuses1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0009119HP:0002738Hypoplastic frontal sinuses1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0009119HP:0002688Absent frontal sinuses1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0009119HP:0002688Absent frontal sinuses1CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0009119HP:0002688Absent frontal sinuses1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0009119HP:0002688Absent frontal sinuses1FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0009119HP:0002738Hypoplastic frontal sinuses1FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040282 - Frequent493
HP:0009119HP:0002738Hypoplastic frontal sinuses1FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0009119HP:0002688Absent frontal sinuses1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009119HP:0002688Absent frontal sinuses1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0009119HP:0002688Absent frontal sinuses1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0009119HP:0002738Hypoplastic frontal sinuses1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0009119HP:0002688Absent frontal sinuses1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0009119HP:0002738Hypoplastic frontal sinuses1SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0009119HP:0002688Absent frontal sinuses1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0009119HP:0002738Hypoplastic frontal sinuses1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78


Genes (13) :AGA ALX1 ALX3 ATRX COL11A1 CTSK DNAI1 FLNA NOTCH2 RUNX2 SFRP4 SIX2 TRIM37

Diseases (19) :OMIM:208400 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:301040 OMIM:154780 ORPHA:560 OMIM:265800 OMIM:244400 OMIM:305620 ORPHA:90650 ORPHA:90652 OMIM:311300 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.