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

Grandparent Node:
Hamartoma (HP:0010566)

Parent Node:
Abnormal cerebral ventricle morphology (HP:0002118)

Parent Node:
Cerebral hamartoma (HP:0009731)

..Starting node
..Subependymal nodules (HP:0009716)

Term ID:

9716

Name:

Subependymal nodules

Synonym:

Definition:

Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.

Comments:

Reference:

HP:0009716

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cortical tubers (HP:0009717)

Hypothalamic hamartoma (HP:0002444)

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:0009716	HP:0009716	Subependymal nodules	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0009716	HP:0009716	Subependymal nodules	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0009716	HP:0009716	Subependymal nodules	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009716	HP:0009716	Subependymal nodules	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0009716	HP:0009716	Subependymal nodules	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009716	HP:0009716	Subependymal nodules	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0009716	HP:0009716	Subependymal nodules	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (4) :GCDH IFNG TSC1 TSC2

Diseases (4) :ORPHA:25 ORPHA:805 OMIM:613254 OMIM:191100

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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