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 posterior cranial fossa morphology (HP:0000932)

Parent Node:
Intracranial cystic lesion (HP:0010576)

..Starting node
..Posterior fossa cyst (HP:0007291)

Term ID:

7291

Name:

Posterior fossa cyst

Synonym:

Definition:

A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.

Comments:

Reference:

HP:0007291

Genes and Diseases:

Child Nodes:

........

Posterior fossa cyst at the fourth ventricle (HP:0000933)

Sister Nodes:

Basal ganglia cysts (HP:0006799)

Cerebellar cyst (HP:0002350)

Intracranial dermoid cyst (HP:0012097)

Intracranial epidermoid cyst (HP:0012096)

Periventricular cysts (HP:0007109)

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:0007291	HP:0007291	Posterior fossa cyst	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0007291	HP:0007291	Posterior fossa cyst	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0007291	HP:0007291	Posterior fossa cyst	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0007291	HP:0007291	Posterior fossa cyst	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0007291	HP:0007291	Posterior fossa cyst	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0007291	HP:0007291	Posterior fossa cyst	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0007291	HP:0007291	Posterior fossa cyst	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0007291	HP:0007291	Posterior fossa cyst	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0007291	HP:0007291	Posterior fossa cyst	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0007291	HP:0007291	Posterior fossa cyst	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007291	HP:0007291	Posterior fossa cyst	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0007291	HP:0007291	Posterior fossa cyst	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0007291	HP:0007291	Posterior fossa cyst	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0007291	HP:0007291	Posterior fossa cyst	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0007291	HP:0007291	Posterior fossa cyst	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.	47
HP:0007291	HP:0007291	Posterior fossa cyst	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0007291	HP:0000933	Posterior fossa cyst at the fourth ventricle	1	CL E G H
HP:0007291	HP:0012487	Cerebellopontine angle arachnoid cyst	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19

Genes (16) :ABAT CSPP1 DPH1 ERCC5 FGFR2 FKRP FKTN GDF6 LARGE1 PLCH1 POMT1 POMT2 PUF60 SNORD118 VSX1 WASHC5

Diseases (12) :OMIM:613163 OMIM:615636 ORPHA:459061 OMIM:616570 OMIM:101200 OMIM:236670 OMIM:118100 OMIM:619895 ORPHA:508498 ORPHA:542310 OMIM:614195 OMIM:220210

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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