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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal subarachnoid space morphology (HP:0012703)

..Starting node
..Widened subarachnoid space (HP:0012704)

Term ID:

12704

Name:

Widened subarachnoid space

Synonym:

Enlarged subarachnoid space; Widened subarachnoid spaces

Definition:

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

Comments:

Reference:

HP:0012704

Genes and Diseases:

Child Nodes:

........

Widened cerebellar subarachnoid space (HP:0012765)

........

Widened cerebral subarachnoid space (HP:0012766)

Sister Nodes:

Subarachnoid hemorrhage (HP:0002138)

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:0012704	HP:0012704	Widened subarachnoid space	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0012704	HP:0012704	Widened subarachnoid space	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0012704	HP:0012704	Widened subarachnoid space	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0012704	HP:0012704	Widened subarachnoid space	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0012704	HP:0012704	Widened subarachnoid space	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012704	HP:0012704	Widened subarachnoid space	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0012704	HP:0012704	Widened subarachnoid space	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0012704	HP:0012704	Widened subarachnoid space	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012704	HP:0012704	Widened subarachnoid space	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012704	HP:0012704	Widened subarachnoid space	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012704	HP:0012704	Widened subarachnoid space	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0012704	HP:0012704	Widened subarachnoid space	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0012704	HP:0012704	Widened subarachnoid space	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012704	HP:0012704	Widened subarachnoid space	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0012704	HP:0012704	Widened subarachnoid space	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0012704	HP:0012704	Widened subarachnoid space	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012704	HP:0012704	Widened subarachnoid space	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened 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:0012704	HP:0012704	Widened subarachnoid space	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0012704	HP:0012704	Widened subarachnoid space	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0012704	HP:0012704	Widened subarachnoid space	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0012704	HP:0012704	Widened subarachnoid space	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012704	HP:0012704	Widened subarachnoid space	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0012704	HP:0012704	Widened subarachnoid space	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0012704	HP:0012704	Widened subarachnoid space	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0012704	HP:0012704	Widened subarachnoid space	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0012704	HP:0012704	Widened subarachnoid space	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012704	HP:0012704	Widened subarachnoid space	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0012704	HP:0012704	Widened subarachnoid space	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0012704	HP:0012765	Widened cerebellar subarachnoid space	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0012704	HP:0012766	Widened cerebral subarachnoid space	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (42) :AHCY AIFM1 ALDH7A1 ALG11 ALG12 ALG2 ALG9 ATP11A COX1 COX16 COX2 COX3 DTYMK GCDH GRIN1 IDH1 MPDU1 MTRR NARS1 ND1 ND4 ND5 ND6 NMNAT1 PLPBP SEPSECS SLC33A1 SNRPN TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSEN15 TSEN2 TSEN34 TSEN54 TTC26 WAC WARS2

Diseases (24) :ORPHA:88618 OMIM:300232 ORPHA:3006 ORPHA:280071 ORPHA:79324 ORPHA:79326 ORPHA:79328 OMIM:619851 ORPHA:550 OMIM:619355 OMIM:619847 ORPHA:25 ORPHA:208447 ORPHA:99646 ORPHA:79323 ORPHA:2169 OMIM:619092 OMIM:619260 ORPHA:2524 OMIM:614482 ORPHA:177907 OMIM:619534 ORPHA:466950 ORPHA:572798

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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