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:
Abnormal form of the vertebral bodies (HP:0003312)

Grandparent Node:
Vertebral hypoplasia (HP:0008417)

Parent Node:
Hypoplastic vertebral bodies (HP:0008479)

..Starting node
..Small cervical vertebral bodies (HP:0004629)

Term ID:

4629

Name:

Small cervical vertebral bodies

Synonym:

Small cervical vertebrae

Definition:

Reduced size of cervical vertebrae.

Comments:

Reference:

HP:0004629

Genes and Diseases:

Child Nodes:

Sister Nodes:

Narrow anterio-posterior vertebral body diameter (HP:0008473)

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:0004629	HP:0004629	Small cervical vertebral bodies	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0004629	HP:0004629	Small cervical vertebral bodies	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0004629	HP:0004629	Small cervical vertebral bodies	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24

Genes (3) :ACVR1 CSPP1 KIAA0586

Diseases (2) :OMIM:135100 ORPHA:397715

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