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:0000419	HP:0000419	Abnormal nasal septum morphology	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional	99
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional	12
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional	4
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040283 - Occasional	140
HP:0000419	HP:0000419	Abnormal nasal septum morphology	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000419	HP:0009936	Narrow nasal septum	1	CL E G H
HP:0000419	HP:0000420	Short nasal septum	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000419	HP:0005322	Prominent nasal septum	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000419	HP:0004411	Deviated nasal septum	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000419	HP:0005322	Prominent nasal septum	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0000419	HP:0004411	Deviated nasal septum	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000419	HP:0005322	Prominent nasal septum	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0000419	HP:0004411	Deviated nasal septum	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000419	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0000419	HP:0004411	Deviated nasal septum	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0000419	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000419	HP:0004411	Deviated nasal septum	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000419	HP:0004411	Deviated nasal septum	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0000419	HP:3000034	Abnormality nasal septum cartilage morphology	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000419	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000419	HP:0009746	Thick nasal septum	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000419	HP:3000034	Abnormality nasal septum cartilage morphology	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000419	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000419	HP:0033434	Nasal septum perforation	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0000419	HP:0000420	Short nasal septum	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000419	HP:3000034	Abnormality nasal septum cartilage morphology	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0000419	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0000419	HP:3000034	Abnormality nasal septum cartilage morphology	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0000419	HP:0005104	Hypoplastic nasal septum	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0000419	HP:0005104	Hypoplastic nasal septum	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000419	HP:0005273	Absent nasal septal cartilage	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000419	HP:0005273	Absent nasal septal cartilage	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000419	HP:0005273	Absent nasal septal cartilage	2	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0000419	HP:0033380	Nasal chondritis	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35