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:
Abnormality of the nasal cavity (HP:0010640)

Parent Node:
Abnormality of the midnasal cavity (HP:0010641)

..Starting node
..Midnasal stenosis (HP:0010644)

Term ID:

10644

Name:

Midnasal stenosis

Synonym:

Midnasal atresia or stenosis

Definition:

Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.

Comments:

Reference:

HP:0010644

Genes and Diseases:

Child Nodes:

........

Midnasal atresia (HP:0010643)

Sister Nodes:

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:0010644	HP:0010644	Midnasal stenosis	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	200
HP:0010644	HP:0010644	Midnasal stenosis	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	22
HP:0010644	HP:0010644	Midnasal stenosis	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	3
HP:0010644	HP:0010644	Midnasal stenosis	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	17
HP:0010644	HP:0010644	Midnasal stenosis	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	172
HP:0010644	HP:0010644	Midnasal stenosis	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	48
HP:0010644	HP:0010644	Midnasal stenosis	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	2
HP:0010644	HP:0010644	Midnasal stenosis	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	173
HP:0010644	HP:0010644	Midnasal stenosis	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	45
HP:0010644	HP:0010644	Midnasal stenosis	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	665
HP:0010644	HP:0010644	Midnasal stenosis	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	67
HP:0010644	HP:0010644	Midnasal stenosis	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010644	HP:0010644	Midnasal stenosis	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010644	HP:0010644	Midnasal stenosis	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	124
HP:0010644	HP:0010644	Midnasal stenosis	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	1
HP:0010644	HP:0010644	Midnasal stenosis	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010644	HP:0010644	Midnasal stenosis	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	34
HP:0010644	HP:0010643	Midnasal atresia	1	CL E G H

Genes (16) :CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 SUFU TDGF1 TGIF1 ZIC2

Diseases (2) :ORPHA:280200 OMIM:147250

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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