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)

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

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

..Starting node
..Cervical vertebral agenesis (HP:0008459)

Term ID:

8459

Name:

Cervical vertebral agenesis

Synonym:

Cervical vertebrae agenesis; Missing cervical vertebrae

Definition:

Agenesis of one or more vertebrae of the cervical vertebral column.

Comments:

Reference:

HP:0008459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical vertebral facet hypoplasia (HP:0008461)

Hypoplastic cervical vertebrae (HP:0008434)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008459	HP:0008459	Cervical vertebral agenesis	0	CL E G H

Genes (0) :

Diseases (0) :

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