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 meningeal morphology (HP:0010651)

Grandparent Node:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Abnormal spinal meningeal morphology (HP:0010303)

..Starting node
..Dural ectasia (HP:0100775)

Term ID:

100775

Name:

Dural ectasia

Synonym:

Definition:

A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.

Comments:

Reference:

HP:0100775

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal spinal dura mater morphology (HP:0009744)

Spinal arachnoid cyst (HP:0009745)

Spinal meningeal diverticulum (HP:0010304)

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:0100775	HP:0100775	Dural ectasia	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0100775	HP:0100775	Dural ectasia	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0100775	HP:0100775	Dural ectasia	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0100775	HP:0100775	Dural ectasia	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100775	HP:0100775	Dural ectasia	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0100775	HP:0100775	Dural ectasia	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0100775	HP:0100775	Dural ectasia	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0100775	HP:0100775	Dural ectasia	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0100775	HP:0100775	Dural ectasia	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0100775	HP:0100775	Dural ectasia	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0100775	HP:0100775	Dural ectasia	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0100775	HP:0100775	Dural ectasia	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0100775	HP:0100775	Dural ectasia	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0100775	HP:0100775	Dural ectasia	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0100775	HP:0100775	Dural ectasia	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0100775	HP:0100775	Dural ectasia	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0100775	HP:0100775	Dural ectasia	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0100775	HP:0100775	Dural ectasia	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0100775	HP:0100775	Dural ectasia	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0100775	HP:0100775	Dural ectasia	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0100775	HP:0100775	Dural ectasia	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0100775	HP:0100775	Dural ectasia	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0100775	HP:0100775	Dural ectasia	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0100775	HP:0100775	Dural ectasia	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0100775	HP:0100775	Dural ectasia	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0100775	HP:0100775	Dural ectasia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100775	HP:0100775	Dural ectasia	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0100775	HP:0100775	Dural ectasia	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0100775	HP:0100775	Dural ectasia	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100775	HP:0100775	Dural ectasia	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0100775	HP:0100775	Dural ectasia	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0100775	HP:0100775	Dural ectasia	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0100775	HP:0100775	Dural ectasia	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (22) :ACTA2 ELN FBN1 FOXE3 HEY2 KANSL1 LOX MAT2A MFAP5 MYH11 MYLK NF1 NOTCH3 PRKG1 RASA1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (16) :ORPHA:91387 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:363958 ORPHA:363965 OMIM:617168 OMIM:616166 ORPHA:97685 ORPHA:2789 OMIM:130720 ORPHA:90307 ORPHA:284984 OMIM:613795 OMIM:614816 OMIM:610168

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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