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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Joint Diseases (D007592)
Parent Node: Vascular Diseases (D014652)
..Starting node ..Calcification of Joints and Arteries (C565891)
Child Nodes:
Sister Nodes:
..Aneurysm (D000783) 43
..Angiodysplasia (D016888) 2
..Angioedema (D000799) 5
..Angiomatosis (D000798) 10
..Aortic Diseases (D001018) 25
..Arterial Dissection with Lentiginosis (C563937)
..Arterial Occlusive Diseases (D001157) 39
..Arteriovenous Malformations (D001165) 12
..Arteritis (D001167) 7
..Calcification of Joints and Arteries (C565891)
..Capillary Leak Syndrome (D019559) 1
..CAROTID INTIMAL MEDIAL THICKNESS 2 (OMIM:608447)
..Cerebrovascular Disorders (D002561) 108
..Colitis, Ischemic (D017091)
..Compartment Syndromes (D003161) 3
..Coronary Artery Dissection, Spontaneous (C565153)
..Diabetic Angiopathies (D003925) 9
..Embolism and Thrombosis (D016769) 34
..Hand-Arm Vibration Syndrome (D053421)
..Hemorrhoids (D006484)
..Hemostatic Disorders (D020141) 48
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hyperemia (D006940)
..Hypertension (D006973) 28
..Hypotension (D007022) 5
..Mesenteric Ischemia (D065666)
..Myocardial Ischemia (D017202) 28
..Optic Neuropathy, Ischemic (D018917) 1
..Pancytopenia and Occlusive Vascular Disease (C566836)
..Peripheral Vascular Diseases (D016491) 17
..Prehypertension (D058246)
..Pulmonary Veno-Occlusive Disease (D011668)
..Reperfusion Injury (D015427) 2
..Retinal Vein Occlusion (D012170)
..Scimitar Syndrome (D012587) 1
..Spinal Cord Vascular Diseases (D020758) 3
..Splenic Infarction (D013159)
..Superior Vena Cava Syndrome (D013479)
..Telangiectasis (D013684) 25
..Thoracic Outlet Syndrome (D013901) 2
..Varicocele (D014646)
..Varicose Veins (D014648) 2
..Vascular Fistula (D016157) 7
..Vascular Hyalinosis (C564750)
..Vascular Neoplasms (D019043)
..Vascular System Injuries (D057772)
..Vasculitis (D014657) 43
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vasoplegia (D056987)
..Venous Insufficiency (D014689) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1568

Name:

Calcification of Joints and Arteries

Definition:

Alternative IDs:

OMIM:211800

ParentIDs:

MESH:D002114|MESH:D007592|MESH:D014652

TreeNumbers:

C05.550/C565891 |C14.907/C565891 |C18.452.174.130/C565891

Synonyms:

ACDC |ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 |CALJA

Slim Mappings:

Cardiovascular disease|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: C565891
MeSH: C565891
OMIM: 211800;

Genes: NT5E;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001367	Abnormal joint morphology
3	HP:0000925	Abnormality of the vertebral column
4	HP:0003207	Arterial calcification
5	HP:0011986	Ectopic ossification

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_002526.3(NT5E):c.662C>A (p.Ser221Ter)	4907	NT5E	Pathogenic	373328681	RCV000022533;	N	MedGen:C1859372,OMIM:211800,ORPHA:289601	6	86181054	86181054	NM_002526.3:c.662C>A	NP_002517.1:p.Ser221Ter	NC_000006.11:g.86181054C>A	OMIM Allelic Variant:129190.0001	C1859372 211800 Calcification of joints and arteries
NM_002526.3(NT5E):c.1073G>A (p.Cys358Tyr)	4907	NT5E	Pathogenic	387906620	RCV000022534;	N	MedGen:C1859372,OMIM:211800,ORPHA:289601	6	86197176	86197176	NM_002526.3:c.1073G>A	NP_002517.1:p.Cys358Tyr	NC_000006.11:g.86197176G>A	OMIM Allelic Variant:129190.0002	C1859372 211800 Calcification of joints and arteries