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 instability (HP:0003467)

Term ID:

3467

Name:

Atlantoaxial instability

Synonym:

Definition:

Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.

Comments:

Reference:

HP:0003467

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atlantoaxial dislocation (HP:0003414)

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:0003467	HP:0003467	Atlantoaxial instability	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003467	HP:0003467	Atlantoaxial instability	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003467	HP:0003467	Atlantoaxial instability	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003467	HP:0003467	Atlantoaxial instability	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0003467	HP:0003467	Atlantoaxial instability	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003467	HP:0003467	Atlantoaxial instability	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040284 - Very rare	13
HP:0003467	HP:0003467	Atlantoaxial instability	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29

Genes (6) :ARSL COL2A1 DDR2 DYM FKBP14 GATA1

Diseases (7) :ORPHA:79345 OMIM:183900 OMIM:271665 ORPHA:239 OMIM:607326 OMIM:614557 OMIM:190685

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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