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:
Abnormality of the cervical spine (HP:0003319)

..Starting node
..Cervical vertebral dysplasia (HP:0008469)

Term ID:

8469

Name:

Cervical vertebral dysplasia

Synonym:

Definition:

Dysplasia of the cervical vertebral column.

Comments:

Reference:

HP:0008469

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cervical curvature (HP:0005905)

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

C1-C2 vertebral abnormality (HP:0008440)

Cervical platyspondyly (HP:0004558)

Cervical spine hypermobility (HP:0003318)

Cervical spine instability (HP:0010646)

Cervical spondylosis (HP:0008480)

Cervical subluxation (HP:0003308)

Cervical vertebral bodies with decreased anteroposterior diameter (HP:0008483)

Decreased cervical spine mobility (HP:0004637)

Enlarged sagittal diameter of the cervical canal (HP:0005878)

Short neck (HP:0000470)

Widening of cervical spinal canal (HP:0004571)

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:0008469	HP:0008469	Cervical vertebral dysplasia	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0008469	HP:0008469	Cervical vertebral dysplasia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138

Genes (2) :ARSL POLR3A

Diseases (2) :ORPHA:79345 ORPHA:3455

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