Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 meningeal morphology (HP:0010651)

Grandparent Node:
Spina bifida (HP:0002414)

Parent Node:
Meningocele (HP:0002435)

..Starting node
..Lipomeningocele (HP:0030710)

Term ID:

30710

Name:

Lipomeningocele

Synonym:

Definition:

A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.

Comments:

Reference:

HP:0030710

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontoethmoidal meningocele (HP:0030729)

Myelomeningocele (HP:0002475)

Occipital meningocele (HP:0002436)

Parietal meningocele (HP:0030730)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030710	HP:0030710	Lipomeningocele	0	CL E G H

Genes (0) :

Diseases (0) :

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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