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:
Benign neoplasm of the central nervous system (HP:0100835)

Grandparent Node:
Multiple lipomas (HP:0001012)

Parent Node:
Multiple central nervous system lipomas (HP:0100251)

..Starting node
..Midline central nervous system lipomas (HP:0006866)

Term ID:

6866

Name:

Midline central nervous system lipomas

Synonym:

Midline CNS lipomas

Definition:

Comments:

Reference:

HP:0006866

Genes and Diseases:

Child Nodes:

........

Lipoma of corpus callosum (HP:0006931)

Sister Nodes:

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:0006866	HP:0006866	Midline central nervous system lipomas	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0006866	HP:0006866	Midline central nervous system lipomas	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0006866	HP:0006866	Midline central nervous system lipomas	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0006866	HP:0006866	Midline central nervous system lipomas	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0006866	HP:0006931	Pericallosal lipoma	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional	5
HP:0006866	HP:0006931	Pericallosal lipoma	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0006866	HP:0006931	Pericallosal lipoma	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0006866	HP:0034014	Tubulonodular pericallosal lipoma	2	CL E G H
HP:0006866	HP:0034013	Curvilinear pericallosal lipoma	2	CL E G H

Genes (3) :ALX1 ALX3 ZSWIM6

Diseases (4) :ORPHA:306542 OMIM:136760 ORPHA:391474 ORPHA:1827

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