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
..Lumbar hemivertebrae (HP:0008439)

Term ID:

8439

Name:

Lumbar hemivertebrae

Synonym:

Definition:

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

Comments:

Reference:

HP:0008439

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical hemivertebrae (HP:0025481)

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:0008439	HP:0008439	Lumbar hemivertebrae	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0008439	HP:0008439	Lumbar hemivertebrae	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0008439	HP:0008439	Lumbar hemivertebrae	0	PAICS CL E G H	10606	8587	OMIM:619859

Genes (3) :EIF5A FGFR1 PAICS

Diseases (3) :OMIM:619376 OMIM:190440 OMIM:619859

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