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:
Meningocele (HP:0002435)

Parent Node:
Myelomeningocele (HP:0002475)

..Starting node
..Myeloschisis (HP:0030708)

Term ID:

30708

Name:

Myeloschisis

Synonym:

Definition:

The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.

Comments:

Reference:

HP:0030708

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lipomyelomeningocele (HP:0025480)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030708	HP:0030708	Myeloschisis	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	111

Genes (1) :VANGL1

Diseases (1) :OMIM:600145

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

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