Human Phenotype Ontology

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:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG		41
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	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:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0012703	HP:0012703	Abnormal subarachnoid space morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0012703	HP:0012704	Widened subarachnoid space	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0012703	HP:0012704	Widened subarachnoid space	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0012703	HP:0012704	Widened subarachnoid space	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0012703	HP:0012704	Widened subarachnoid space	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0012703	HP:0012704	Widened subarachnoid space	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012703	HP:0012704	Widened subarachnoid space	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0012703	HP:0012704	Widened subarachnoid space	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0012703	HP:0012704	Widened subarachnoid space	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0012703	HP:0032327	Interhemispheric cyst	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0012703	HP:0012704	Widened subarachnoid space	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012703	HP:0012704	Widened subarachnoid space	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012703	HP:0032327	Interhemispheric cyst	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0012703	HP:0012704	Widened subarachnoid space	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040284 - Very rare	33
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0012703	HP:0012704	Widened subarachnoid space	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	23
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	8
HP:0012703	HP:0012704	Widened subarachnoid space	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0012703	HP:0012704	Widened subarachnoid space	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	119
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	69
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	80
HP:0012703	HP:0032327	Interhemispheric cyst	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0012703	HP:0032327	Interhemispheric cyst	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0012703	HP:0012704	Widened subarachnoid space	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0012703	HP:0100953	Enlarged interhemispheric fissure	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0012703	HP:0012704	Widened subarachnoid space	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0012703	HP:0012704	Widened subarachnoid space	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012703	HP:0012704	Widened subarachnoid space	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened 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:0012703	HP:0032327	Interhemispheric cyst	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0012703	HP:0012704	Widened subarachnoid space	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0012703	HP:0032327	Interhemispheric cyst	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0012703	HP:0012704	Widened subarachnoid space	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0012703	HP:0012704	Widened subarachnoid space	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0012703	HP:0012704	Widened subarachnoid space	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0012703	HP:0002138	Subarachnoid hemorrhage	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012703	HP:0012704	Widened subarachnoid space	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0012703	HP:0012704	Widened subarachnoid space	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0012703	HP:0012704	Widened subarachnoid space	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0012703	HP:0012704	Widened subarachnoid space	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0012703	HP:0012704	Widened subarachnoid space	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012703	HP:0012704	Widened subarachnoid space	1	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:0012703	HP:0012704	Widened subarachnoid space	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0012703	HP:0012765	Widened cerebellar subarachnoid space	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0012703	HP:0012766	Widened cerebral subarachnoid space	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS