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 vascular morphology (HP:0025015)

Parent Node:
Abnormal cerebral artery morphology (HP:0009145)

Parent Node:
Vascular dilatation (HP:0002617)

..Starting node
..Dilatation of the cerebral artery (HP:0004944)

Term ID:

4944

Name:

Dilatation of the cerebral artery

Synonym:

Brain aneurysm; Cerebral aneurysm; Cerebral artery aneurysm; Intracranial aneurysm

Definition:

The presence of a localized dilatation or ballooning of a cerebral artery.

Comments:

Reference:

HP:0004944

Genes and Diseases:

Child Nodes:

........

Cerebral berry aneurysm (HP:0007029)

........

Fusiform cerebral aneurysm (HP:0031056)

Sister Nodes:

Aortic aneurysm (HP:0004942)

Central fundal arteriolar microaneurysms (HP:0008014)

Dilatation of an abdominal artery (HP:0002636)

Dilatation of the ductus arteriosus (HP:0030745)

Dilatation of the ventricular cavity (HP:0006698)

Pseudoaneurysm (HP:0031625)

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:0004944	HP:0004944	Dilatation of the cerebral artery	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.	6
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	HP:0040284 - Very rare	129
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040284 - Very rare	134
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1	.	239
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0004944	HP:0004944	Dilatation of the cerebral artery	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	749
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	186
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	1
HP:0004944	HP:0031056	Fusiform cerebral aneurysm	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0004944	HP:0007029	Cerebral berry aneurysm	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	2

Genes (49) :ACTA2 ALG5 ALG9 ANGPTL6 BGN BICC1 COL1A1 COL3A1 COL4A1 COL5A1 COL5A2 DNAJB11 ELN ENG FARSB FBN1 FOXE3 GAA GANAB GGCX HEY2 IFT140 IPO8 LOX MAT2A MFAP5 MYH11 MYLK NF1 PCNT PDE11A PKD1 PKD2 PLOD3 PRKAR1A PRKG1 SMAD2 SMAD3 SMAD4 SPTBN1 STAT1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 TOM1 TONSL

Diseases (30) :ORPHA:91387 OMIM:613834 ORPHA:730 ORPHA:231160 OMIM:300989 ORPHA:287 OMIM:130050 OMIM:611773 OMIM:619329 OMIM:613658 OMIM:232300 OMIM:600666 ORPHA:91135 OMIM:619472 ORPHA:229 ORPHA:97685 OMIM:210720 ORPHA:1359 OMIM:173900 OMIM:612394 ORPHA:615 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:619475 ORPHA:391487 OMIM:609192 OMIM:610168 OMIM:618734 ORPHA:93357

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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