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:
Abnormal arachnoid mater morphology (HP:0100700)

Parent Node:
Arachnoid cyst (HP:0100702)

..Starting node
..Cerebellopontine angle arachnoid cyst (HP:0012487)

Term ID:

12487

Name:

Cerebellopontine angle arachnoid cyst

Synonym:

Definition:

An arachnoid cyst located at the margin of the cerebellum and pons.

Comments:

Reference:

HP:0012487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intraventricular arachnoid cyst (HP:0012488)

Spinal arachnoid cyst (HP:0009745)

Suprasellar arachnoid cyst (HP:0012489)

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:0012487	HP:0012487	Cerebellopontine angle arachnoid cyst	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19

Genes (1) :PUF60

Diseases (1) :ORPHA:508498

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