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:
Abnormal lumbar spine morphology (HP:0100712)

..Starting node
..Lumbosacral meningocele (HP:0200133)

Term ID:

200133

Name:

Lumbosacral meningocele

Synonym:

Definition:

Comments:

Reference:

HP:0200133

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lumbar kyphosis (HP:0008454)

Thoracolumbar kyphosis (HP:0005619)

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:0200133	HP:0200133	Lumbosacral meningocele	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0200133	HP:0200133	Lumbosacral meningocele	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS	.	80

Genes (2) :BMPER SC5D

Diseases (2) :OMIM:608022 OMIM:607330

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