Human Phenotype Ontology

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:0010640	HP:0010640	Abnormality of the nasal cavity	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040284 - Very rare	37
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0010640	HP:0010640	Abnormality of the nasal cavity	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0010640	HP:0010641	Abnormality of the midnasal cavity	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0010640	HP:0010644	Midnasal stenosis	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	200
HP:0010640	HP:0010644	Midnasal stenosis	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	22
HP:0010640	HP:0010644	Midnasal stenosis	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	3
HP:0010640	HP:0010644	Midnasal stenosis	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	17
HP:0010640	HP:0010644	Midnasal stenosis	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	172
HP:0010640	HP:0010644	Midnasal stenosis	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	48
HP:0010640	HP:0010644	Midnasal stenosis	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	2
HP:0010640	HP:0010644	Midnasal stenosis	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	173
HP:0010640	HP:0010644	Midnasal stenosis	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	45
HP:0010640	HP:0010644	Midnasal stenosis	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	665
HP:0010640	HP:0010644	Midnasal stenosis	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	67
HP:0010640	HP:0010644	Midnasal stenosis	2	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0010640	HP:0010644	Midnasal stenosis	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010640	HP:0010644	Midnasal stenosis	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	124
HP:0010640	HP:0010644	Midnasal stenosis	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	1
HP:0010640	HP:0010644	Midnasal stenosis	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0010640	HP:0010644	Midnasal stenosis	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	34
HP:0010640	HP:0010643	Midnasal atresia	3	CL E G H