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)

Parent Node:
Atlantoaxial abnormality (HP:0003413)

..Starting node
..Atlantoaxial dislocation (HP:0003414)

Term ID:

3414

Name:

Atlantoaxial dislocation

Synonym:

Atlanto-axial subluxation; Atlantoaxial subluxation

Definition:

Partial dislocation of the atlantoaxial joint.

Comments:

Reference:

HP:0003414

Genes and Diseases:

Child Nodes:

........

Anterior atlanto-occipital dislocation (HP:0005678)

Sister Nodes:

Atlantoaxial instability (HP:0003467)

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:0003414	HP:0003414	Atlantoaxial dislocation	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003414	HP:0003414	Atlantoaxial dislocation	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003414	HP:0005678	Anterior atlanto-occipital dislocation	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38

Genes (7) :B3GALT6 CHST14 COMP DSE GNPTAB NFIX RMRP

Diseases (6) :ORPHA:536467 ORPHA:2953 OMIM:177170 OMIM:252500 OMIM:602535 OMIM:607095

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