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 segmentation defect (HP:0003422)

Parent Node:
Hemivertebrae (HP:0002937)

..Starting node
..Cervical hemivertebrae (HP:0025481)

Term ID:

25481

Name:

Cervical hemivertebrae

Synonym:

Definition:

Absence of one half of the vertebral body in the cervical spine.

Comments:

Reference:

HP:0025481

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lumbar hemivertebrae (HP:0008439)

Thoracic hemivertebrae (HP:0008467)

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:0025481	HP:0025481	Cervical hemivertebrae	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0025481	HP:0025481	Cervical hemivertebrae	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19

Genes (2) :MADD PUF60

Diseases (2) :OMIM:619004 ORPHA:508498

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