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:0004122	HP:0004122	Midline defect of the nose	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0004122	HP:0004122	Midline defect of the nose	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0004122	HP:0004122	Midline defect of the nose	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0004122	HP:0004122	Midline defect of the nose	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0004122	HP:0004122	Midline defect of the nose	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0004122	HP:0004122	Midline defect of the nose	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0004122	HP:0004122	Midline defect of the nose	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0004122	HP:0004122	Midline defect of the nose	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0004122	HP:0004122	Midline defect of the nose	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome		198
HP:0004122	HP:0004122	Midline defect of the nose	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0004122	HP:0004122	Midline defect of the nose	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0004122	HP:0004122	Midline defect of the nose	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0004122	HP:0004122	Midline defect of the nose	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0004122	HP:0004122	Midline defect of the nose	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0004122	HP:0004122	Midline defect of the nose	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0004122	HP:0004122	Midline defect of the nose	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0004122	HP:0004122	Midline defect of the nose	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0004122	HP:0004122	Midline defect of the nose	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004122	HP:0004122	Midline defect of the nose	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0004122	HP:0004122	Midline defect of the nose	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0004122	HP:0011803	Bifid nose	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0004122	HP:0011803	Bifid nose	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0004122	HP:0004112	Midline nasal groove	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0004122	HP:0011803	Bifid nose	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0004122	HP:0004112	Midline nasal groove	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0004122	HP:0004112	Midline nasal groove	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004122	HP:0011803	Bifid nose	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0004122	HP:0011803	Bifid nose	1	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040280 - Obligate	198
HP:0004122	HP:0004112	Midline nasal groove	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004122	HP:0004112	Midline nasal groove	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004122	HP:0011803	Bifid nose	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0004122	HP:0011803	Bifid nose	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0004122	HP:0011803	Bifid nose	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0004122	HP:0011803	Bifid nose	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0004122	HP:0011803	Bifid nose	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004122	HP:0011803	Bifid nose	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0004122	HP:0011803	Bifid nose	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5