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:
Abnormality of the basal ganglia (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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0006799	HP:0006799	Basal ganglia cysts	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	876	2330	600650
HP:0006799	HP:0006799	Basal ganglia cysts	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	650	13780	606639
HP:0006799	HP:0006799	Basal ganglia cysts	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006799	HP:0006799	Basal ganglia cysts	0	ADAR CL E G H	103	225154				ORPHA	0	1122	225	146920
HP:0006799	HP:0006799	Basal ganglia cysts	0	MT-ATP6 CL E G H	4508	225154				ORPHA	0		7414	516060
HP:0006799	HP:0006799	Basal ganglia cysts	0	NUP62 CL E G H	23636	225154				ORPHA	0	161	8066	605815

Genes (6) :ADAR ATP6 CPT2 GFM1 NUP62 PDHA1

Diseases (4) :225154 608836 609060 312170

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.