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:
Abnormal spinal meningeal morphology (HP:0010303)

Parent Node:
Arachnoid cyst (HP:0100702)

..Starting node
..Spinal arachnoid cyst (HP:0009745)

Term ID:

9745

Name:

Spinal arachnoid cyst

Synonym:

Epidural arachnoid cysts of the spinal canal

Definition:

Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.

Comments:

Reference:

HP:0009745

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellopontine angle arachnoid cyst (HP:0012487)

Intraventricular arachnoid cyst (HP:0012488)

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:0009745	HP:0009745	Spinal arachnoid cyst	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20

Genes (1) :FOXC2

Diseases (1) :ORPHA:33001

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