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:
Central nervous system cyst (HP:0030724)

Parent Node:
Abnormal basal ganglia morphology (HP:0002134)

Parent Node:
Intracranial cystic lesion (HP:0010576)

..Starting node
..Basal ganglia cysts (HP:0006799)

Term ID:

6799

Name:

Basal ganglia cysts

Synonym:

Cystic lesions in the basal ganglia

Definition:

Comments:

Reference:

HP:0006799

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar cyst (HP:0002350)

Intracranial dermoid cyst (HP:0012097)

Intracranial epidermoid cyst (HP:0012096)

Periventricular cysts (HP:0007109)

Posterior fossa cyst (HP:0007291)

Subependymal cysts (HP:0002416)

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:0006799	HP:0006799	Basal ganglia cysts	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0006799	HP:0006799	Basal ganglia cysts	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0006799	HP:0006799	Basal ganglia cysts	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0006799	HP:0006799	Basal ganglia cysts	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0006799	HP:0006799	Basal ganglia cysts	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0006799	HP:0006799	Basal ganglia cysts	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0006799	HP:0006799	Basal ganglia cysts	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0006799	HP:0006799	Basal ganglia cysts	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88

Genes (7) :ADAR ATP6 CPT2 GFM1 LONP1 NUP62 PDHA1

Diseases (5) :ORPHA:225154 OMIM:608836 OMIM:609060 ORPHA:79243 OMIM:312170

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