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:0003413	HP:0003413	Atlantoaxial abnormality	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1		65
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0003413	HP:0003413	Atlantoaxial abnormality	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003413	HP:0003467	Atlantoaxial instability	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0003413	HP:0003467	Atlantoaxial instability	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003413	HP:0003467	Atlantoaxial instability	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0003413	HP:0003467	Atlantoaxial instability	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003413	HP:0003467	Atlantoaxial instability	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003413	HP:0003467	Atlantoaxial instability	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare	13
HP:0003413	HP:0003467	Atlantoaxial instability	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003413	HP:0003414	Atlantoaxial dislocation	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003413	HP:0005678	Anterior atlanto-occipital dislocation	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38