Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the vertebral column (HP:0000925)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormality of the odontoid process (HP:0003310)

Parent Node:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

..Starting node
..Hypoplasia of the odontoid process (HP:0003311)

Term ID:

3311

Name:

Hypoplasia of the odontoid process

Synonym:

Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process

Definition:

Developmental hypoplasia of the dens of the axis.

Comments:

Reference:

HP:0003311

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Aplasia/Hypoplasia of the sacrum (HP:0008517)

Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Hypoplastic spinal processes (HP:0008460)

Relatively short spine (HP:0002766)

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:0003311	HP:0003311	Hypoplasia of the odontoid process	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040284 - Very rare	89
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0003311	HP:0003311	Hypoplasia 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:0003311	HP:0003311	Hypoplasia of the odontoid process	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.	13
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	HP:0040283 - Occasional	37
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0003311	HP:0003311	Hypoplasia of the odontoid process	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214

Genes (27) :AIFM1 ARSB BGN COG4 COL2A1 COMP DDR2 DYM EIF2AK3 EXTL3 FGD1 FLNB FN1 GALNS GLB1 GNPTAB GUSB IARS2 IDUA INPPL1 LFNG LONP1 NFIX RAB33B RMRP TRAPPC2 TRPV4

Diseases (34) :OMIM:300232 OMIM:253200 OMIM:300106 ORPHA:85172 ORPHA:485 OMIM:184250 OMIM:183900 OMIM:184255 ORPHA:750 OMIM:177170 OMIM:271665 OMIM:223800 ORPHA:239 OMIM:607326 OMIM:226980 ORPHA:508533 OMIM:305400 OMIM:272460 OMIM:253000 OMIM:253010 OMIM:252500 OMIM:253220 OMIM:616007 OMIM:607014 OMIM:258480 OMIM:609813 OMIM:600373 OMIM:602535 OMIM:615222 OMIM:250250 ORPHA:93284 OMIM:156530 OMIM:184252 ORPHA:93314

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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