Human Phenotype Ontology 
Grandparent Node:
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Central nervous system cyst (HP:0030724)help
Parent Node:
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Abnormal posterior cranial fossa morphology (HP:0000932)help
Parent Node:
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Intracranial cystic lesion (HP:0010576)help
..Starting node
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Posterior fossa cyst (HP:0007291)help
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:
........expandPosterior fossa cyst at the fourth ventricle (HP:0000933) help

 Sister Nodes: 
..expandBasal ganglia cysts (HP:0006799) help
..expandCerebellar cyst (HP:0002350) help
..expandIntracranial dermoid cyst (HP:0012097) help
..expandIntracranial epidermoid cyst (HP:0012096) help
..expandPeriventricular cysts (HP:0007109) help
..expandSubependymal cysts (HP:0002416) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007291HP:0007291Posterior fossa cyst0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0007291HP:0007291Posterior fossa cyst0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0007291HP:0007291Posterior fossa cyst0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0007291HP:0007291Posterior fossa cyst0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0007291HP:0007291Posterior fossa cyst0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0007291HP:0007291Posterior fossa cyst0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0007291HP:0007291Posterior fossa cyst0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0007291HP:0007291Posterior fossa cyst0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0007291HP:0007291Posterior fossa cyst0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0007291HP:0007291Posterior fossa cyst0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM1107426193611654
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007291HP:0007291Posterior fossa cyst0GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM04064221601147
HP:0007291HP:0012487Cerebellopontine angle arachnoid cyst1GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM04064221601147
HP:0007291HP:0000933Posterior fossa cyst at the fourth ventricle1GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM04064221601147


Genes (11) :ABAT CSPP1 FGFR2 FKRP FKTN GDF6 LARGE1 POMT1 POMT2 VSX1 WASHC5

Diseases (7) :613163 615636 101200 236670 118100 614195 220210
 

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