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:
Meningocele (HP:0002435)

Parent Node:
Myelomeningocele (HP:0002475)

..Starting node
..Lipomyelomeningocele (HP:0025480)

Term ID:

25480

Name:

Lipomyelomeningocele

Synonym:

Definition:

A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.

Comments:

Reference:

HP:0025480

Genes and Diseases:

Child Nodes:

Sister Nodes:

Myeloschisis (HP:0030708)

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:0025480	HP:0025480	Lipomyelomeningocele	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	22

Genes (1) :SMO

Diseases (1) :OMIM:601707

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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