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:0003310	HP:0003310	Abnormality of the odontoid process	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type		67
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		284
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1		65
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type		9
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2		53
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003310	HP:0003310	Abnormality of the odontoid process	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003310	HP:0025374	Duplicated odontoid process	1	CL E G H
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040284 - Very rare	89
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003310	HP:0004608	Anteriorly placed odontoid process	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0003310	HP:0004608	Anteriorly placed odontoid process	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.	13
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003310	HP:0005667	Os odontoideum	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	HP:0040283 - Occasional	37
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0003310	HP:0003311	Hypoplasia of the odontoid process	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0003310	HP:0040143	Dystopic os odontoideum	2	CL E G H
HP:0003310	HP:0025375	Orthotopic os odontoideum	2	CL E G H