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 cervical spine (HP:0003319)

Parent Node:
C1-C2 vertebral abnormality (HP:0008440)

Parent Node:
Cervical subluxation (HP:0003308)

..Starting node
..C1-C2 subluxation (HP:0003320)

Term ID:

3320

Name:

C1-C2 subluxation

Synonym:

Definition:

A partial dislocation of the atlantoaxial joints.

Comments:

Reference:

HP:0003320

Genes and Diseases:

Child Nodes:

Sister Nodes:

C2-C3 subluxation (HP:0008456)

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:0003320	HP:0003320	C1-C2 subluxation	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003320	HP:0003320	C1-C2 subluxation	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003320	HP:0003320	C1-C2 subluxation	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003320	HP:0003320	C1-C2 subluxation	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003320	HP:0003320	C1-C2 subluxation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0003320	HP:0003320	C1-C2 subluxation	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64

Genes (6) :ARSL COL2A1 DDR2 IDUA MADD MMP2

Diseases (6) :ORPHA:79345 OMIM:184250 OMIM:271665 OMIM:607014 OMIM:619004 OMIM:259600

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