Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cerebral subarachnoid space (HP:0012766)

Term ID:

12766

Name:

Widened cerebral subarachnoid space

Synonym:

Definition:

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

Comments:

Reference:

HP:0012766

Genes and Diseases:

Child Nodes:

Sister Nodes:

Widened cerebellar subarachnoid space (HP:0012765)

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:0012766	HP:0012766	Widened cerebral subarachnoid space	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012766	HP:0012766	Widened cerebral subarachnoid space	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (18) :ALG12 COX1 COX2 COX3 IDH1 NARS1 ND1 ND4 ND5 ND6 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC26

Diseases (5) :ORPHA:79324 ORPHA:550 ORPHA:99646 OMIM:619092 OMIM:619534

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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