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 the nose (HP:0000366)

Parent Node:
Abnormality of the nasal cavity (HP:0010640)

..Starting node
..Abnormality of the midnasal cavity (HP:0010641)

Term ID:

10641

Name:

Abnormality of the midnasal cavity

Synonym:

Definition:

Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.

Comments:

Reference:

HP:0010641

Genes and Diseases:

Child Nodes:

........

Midnasal stenosis (HP:0010644)

................... HP:0010643 Midnasal atresia

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:0010641	HP:0010641	Abnormality of the midnasal cavity	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0010641	HP:0010641	Abnormality of the midnasal cavity	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0010641	HP:0010644	Midnasal stenosis	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	200
HP:0010641	HP:0010644	Midnasal stenosis	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	22
HP:0010641	HP:0010644	Midnasal stenosis	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	3
HP:0010641	HP:0010644	Midnasal stenosis	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	17
HP:0010641	HP:0010644	Midnasal stenosis	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	172
HP:0010641	HP:0010644	Midnasal stenosis	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	48
HP:0010641	HP:0010644	Midnasal stenosis	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	2
HP:0010641	HP:0010644	Midnasal stenosis	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	173
HP:0010641	HP:0010644	Midnasal stenosis	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	45
HP:0010641	HP:0010644	Midnasal stenosis	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	665
HP:0010641	HP:0010644	Midnasal stenosis	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	67
HP:0010641	HP:0010644	Midnasal stenosis	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010641	HP:0010644	Midnasal stenosis	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010641	HP:0010644	Midnasal stenosis	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	124
HP:0010641	HP:0010644	Midnasal stenosis	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	1
HP:0010641	HP:0010644	Midnasal stenosis	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010641	HP:0010644	Midnasal stenosis	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	34
HP:0010641	HP:0010643	Midnasal atresia	2	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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