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 subarachnoid space morphology (HP:0012703)

Parent Node:
Widened subarachnoid space (HP:0012704)

..Starting node
..Widened cerebellar subarachnoid space (HP:0012765)

Term ID:

12765

Name:

Widened cerebellar subarachnoid space

Synonym:

Definition:

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.

Comments:

Reference:

HP:0012765

Genes and Diseases:

Child Nodes:

Sister Nodes:

Widened cerebral subarachnoid space (HP:0012766)

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:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0012765	HP:0012765	Widened cerebellar subarachnoid space	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102

Genes (6) :NMNAT1 SEPSECS TSEN15 TSEN2 TSEN34 TSEN54

Diseases (2) :OMIM:619260 ORPHA:2524

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