Orphanet classification: Rare circulatory system disease (ORPHA:98028)
Disorder type: Category
Subcategories and diseases:
Name: Rare vascular disease
OrphaCode: 68362
DisorderType: Category
Children: Name: Non-inflammatory vasculopathy
OrphaCode: 496924
DisorderType: Category
Children: Name: May-Thurner syndrome
OrphaCode: 675404
DisorderType: Disease
Name: Neonatal compartment syndrome
OrphaCode: 641829
DisorderType: Clinical syndrome
Name: Segmental arterial mediolysis
OrphaCode: 645350
DisorderType: Disease
Name: Acute peripheral arterial occlusion
OrphaCode: 90064
DisorderType: Particular clinical situation in a disease or syndrome
Name: Livedoid vasculopathy
OrphaCode: 542643
DisorderType: Clinical syndrome
Name: Arterial dissection-lentiginosis syndrome
OrphaCode: 1682
DisorderType: Malformation syndrome
Name: Sneddon syndrome
OrphaCode: 820
DisorderType: Disease
Name: Rare genetic vascular disease
OrphaCode: 233655
DisorderType: Category
Children: Name: Familial abdominal aortic aneurysm
OrphaCode: 86
DisorderType: Disease
Name: Generalized arterial calcification of infancy
OrphaCode: 51608
DisorderType: Disease
Name: Rare disease with thoracic aortic aneurysm and aortic dissection
OrphaCode: 285014
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Familial thoracic aortic aneurysm and aortic dissection
OrphaCode: 91387
DisorderType: Disease
Name: Neonatal Marfan syndrome
OrphaCode: 284979
DisorderType: Disease
Name: Aneurysm-osteoarthritis syndrome
OrphaCode: 284984
DisorderType: Disease
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Familial aortic dissection
OrphaCode: 229
DisorderType: Disease
Name: Hereditary arterial and articular multiple calcification syndrome
OrphaCode: 289601
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Calciphylaxis
OrphaCode: 280062
DisorderType: Disease
Children: Name: Calciphylaxis cutis
OrphaCode: 280065
DisorderType: Clinical subtype
Name: Visceral calciphylaxis
OrphaCode: 280068
DisorderType: Clinical subtype
Name: Pediatric arterial ischemic stroke
OrphaCode: 439175
DisorderType: Clinical syndrome
Name: Idiopathic spontaneous coronary artery dissection
OrphaCode: 458718
DisorderType: Disease
Name: Susac syndrome
OrphaCode: 838
DisorderType: Disease
Name: Vasculitis
OrphaCode: 52759
DisorderType: Category
Children: Name: Predominantly large-vessel vasculitis
OrphaCode: 156140
DisorderType: Clinical group
Children: Name: Juvenile temporal arteritis
OrphaCode: 26137
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Takayasu arteritis
OrphaCode: 3287
DisorderType: Disease
Name: Giant cell arteritis
OrphaCode: 397
DisorderType: Disease
Name: Cogan syndrome
OrphaCode: 1467
DisorderType: Disease
Name: Hughes-Stovin syndrome
OrphaCode: 228116
DisorderType: Disease
Name: Predominantly medium-vessel vasculitis
OrphaCode: 156143
DisorderType: Clinical group
Children: Name: Kawasaki disease
OrphaCode: 2331
DisorderType: Disease
Name: Polyarteritis nodosa
OrphaCode: 767
DisorderType: Disease
Children: Name: Primary polyarteritis nodosa
OrphaCode: 439737
DisorderType: Clinical subtype
Children: Name: Cutaneous polyarteritis nodosa
OrphaCode: 439729
DisorderType: Clinical subtype
Name: Single-organ polyarteritis nodosa
OrphaCode: 439755
DisorderType: Clinical subtype
Name: Systemic polyarteritis nodosa
OrphaCode: 439762
DisorderType: Clinical subtype
Name: Secondary polyarteritis nodosa
OrphaCode: 439746
DisorderType: Clinical subtype
Name: Buerger disease
OrphaCode: 36258
DisorderType: Disease
Name: Primary angiitis of the central nervous system
OrphaCode: 140989
DisorderType: Disease
Name: Adenosine deaminase 2 deficiency
OrphaCode: 404553
DisorderType: Disease
Name: VEXAS syndrome
OrphaCode: 596753
DisorderType: Disease
Name: Predominantly small-vessel vasculitis
OrphaCode: 156146
DisorderType: Clinical group
Children: Name: Primary angiitis of the central nervous system
OrphaCode: 140989
DisorderType: Disease
Name: Anti-glomerular basement membrane disease
OrphaCode: 375
DisorderType: Disease
Name: Immune complex mediated vasculitis
OrphaCode: 156149
DisorderType: Category
Children: Name: Immunoglobulin A vasculitis
OrphaCode: 761
DisorderType: Disease
Name: Cutaneous small vessel vasculitis
OrphaCode: 889
DisorderType: Disease
Name: Hypocomplementemic urticarial vasculitis
OrphaCode: 36412
DisorderType: Disease
Name: Erythema elevatum diutinum
OrphaCode: 90000
DisorderType: Disease
Name: Cryoglobulinemic vasculitis
OrphaCode: 91138
DisorderType: Disease
Children: Name: Mixed cryoglobulinemia type II
OrphaCode: 93554
DisorderType: Etiological subtype
Name: Mixed cryoglobulinemia type III
OrphaCode: 93555
DisorderType: Etiological subtype
Name: Anti-neutrophil cytoplasmic antibody-associated vasculitis
OrphaCode: 156152
DisorderType: Clinical group
Children: Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: Microscopic polyangiitis
OrphaCode: 727
DisorderType: Disease
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Unclassified vasculitis
OrphaCode: 251328
DisorderType: Disease
Name: Secondary vasculitis
OrphaCode: 445197
DisorderType: Category
Children: Name: Postinfectious vasculitis
OrphaCode: 48435
DisorderType: Disease
Name: Drug-induced vasculitis
OrphaCode: 251325
DisorderType: Disease
Name: Rare vascular anomaly
OrphaCode: 68419
DisorderType: Category
Children: Name: Complex vascular malformation with associated anomalies
OrphaCode: 211277
DisorderType: Category
Children: Name: CLAPO syndrome
OrphaCode: 168984
DisorderType: Malformation syndrome
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Angioosteohypotrophic syndrome
OrphaCode: 75508
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
OrphaCode: 86914
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Inverse Klippel-Trénaunay syndrome
OrphaCode: 329324
DisorderType: Disease
Name: Rare combined vascular malformation
OrphaCode: 458837
DisorderType: Clinical group
Name: Rare vascular malformation of major vessels
OrphaCode: 458844
DisorderType: Category
Children: Name: Internal carotid absence
OrphaCode: 981
DisorderType: Morphological anomaly
Name: Congenital anomaly of the great arteries
OrphaCode: 98724
DisorderType: Category
Children: Name: Aortic arch defects
OrphaCode: 1132
DisorderType: Category
Children: Name: Encircling double aortic arch
OrphaCode: 99075
DisorderType: Morphological anomaly
Name: Persistent fifth aortic arch
OrphaCode: 99076
DisorderType: Morphological anomaly
Name: Kommerell diverticulum
OrphaCode: 99077
DisorderType: Morphological anomaly
Name: Neuhauser anomaly
OrphaCode: 99078
DisorderType: Morphological anomaly
Name: Cervical aortic arch
OrphaCode: 99079
DisorderType: Morphological anomaly
Name: Right aortic arch
OrphaCode: 99081
DisorderType: Morphological anomaly
Name: Dysphagia lusoria
OrphaCode: 99082
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Arterial duct anomaly
OrphaCode: 95485
DisorderType: Category
Children: Name: Premature closure of the arterial duct
OrphaCode: 95486
DisorderType: Morphological anomaly
Name: Congenital patent ductus arteriosus aneurysm
OrphaCode: 99072
DisorderType: Morphological anomaly
Name: Familial patent arterial duct
OrphaCode: 466729
DisorderType: Morphological anomaly
Name: Aortic malformation
OrphaCode: 98718
DisorderType: Category
Children: Name: Supravalvular aortic stenosis
OrphaCode: 3193
DisorderType: Morphological anomaly
Name: Middle aortic syndrome
OrphaCode: 1456
DisorderType: Morphological anomaly
Name: Quadricuspid aortic valve
OrphaCode: 542568
DisorderType: Morphological anomaly
Name: Aorta coarctation
OrphaCode: 1457
DisorderType: Morphological anomaly
Name: Aortic arch interruption
OrphaCode: 2299
DisorderType: Morphological anomaly
Name: Fixed subaortic stenosis
OrphaCode: 3092
DisorderType: Morphological anomaly
Children: Name: Discrete fixed membranous subaortic stenosis
OrphaCode: 99051
DisorderType: Clinical subtype
Name: Discrete fibromuscular subaortic stenosis
OrphaCode: 99052
DisorderType: Clinical subtype
Name: Tunnel subaortic stenosis
OrphaCode: 99053
DisorderType: Clinical subtype
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Pulmonary artery or pulmonary branch anomaly
OrphaCode: 98719
DisorderType: Category
Children: Name: Pulmonary atresia-intact ventricular septum syndrome
OrphaCode: 1208
DisorderType: Morphological anomaly
Name: Pulmonary valve agenesis
OrphaCode: 982
DisorderType: Clinical group
Children: Name: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
OrphaCode: 99048
DisorderType: Malformation syndrome
Name: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
OrphaCode: 101206
DisorderType: Malformation syndrome
Name: Absence of the pulmonary artery
OrphaCode: 980
DisorderType: Morphological anomaly
Name: Congenital pulmonary valvar stenosis
OrphaCode: 3189
DisorderType: Morphological anomaly
Children: Name: Subpulmonary stenosis
OrphaCode: 3190
DisorderType: Clinical subtype
Name: Supravalvular pulmonary stenosis
OrphaCode: 3192
DisorderType: Clinical subtype
Name: Valvular pulmonary stenosis
OrphaCode: 99054
DisorderType: Clinical subtype
Name: Idiopathic pulmonary artery dilatation
OrphaCode: 1676
DisorderType: Disease
Name: Pulmonary artery hypoplasia
OrphaCode: 99083
DisorderType: Morphological anomaly
Name: Peripheral pulmonary stenosis
OrphaCode: 99084
DisorderType: Morphological anomaly
Name: Ascending aorta anomaly
OrphaCode: 98725
DisorderType: Category
Children: Name: Aneurysm of sinus of Valsalva
OrphaCode: 1054
DisorderType: Morphological anomaly
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Aorto-ventricular tunnel
OrphaCode: 3400
DisorderType: Morphological anomaly
Children: Name: Aorto-right ventricular tunnel
OrphaCode: 99070
DisorderType: Clinical subtype
Name: Aorto-left ventricular tunnel
OrphaCode: 99071
DisorderType: Clinical subtype
Name: Congenital anomaly of the great veins
OrphaCode: 363189
DisorderType: Category
Children: Name: Congenital systemic veins anomaly
OrphaCode: 3091
DisorderType: Category
Children: Name: Congenital anomaly of superior vena cava
OrphaCode: 95498
DisorderType: Category
Children: Name: Right superior vena cava connecting to left-sided atrium
OrphaCode: 99110
DisorderType: Morphological anomaly
Name: Primary superior vena cava aneurysm
OrphaCode: 652668
DisorderType: Malformation syndrome
Name: Agenesis of the superior vena cava
OrphaCode: 99114
DisorderType: Morphological anomaly
Name: Persistent left superior vena cava connecting to the roof of left-sided atrium
OrphaCode: 99111
DisorderType: Morphological anomaly
Name: Subaortic course of innominate vein
OrphaCode: 99113
DisorderType: Morphological anomaly
Name: Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
OrphaCode: 99109
DisorderType: Morphological anomaly
Name: Absence of innominate vein
OrphaCode: 99112
DisorderType: Morphological anomaly
Name: Congenital anomaly of the inferior vena cava
OrphaCode: 95499
DisorderType: Category
Children: Name: Right inferior vena cava connecting to left-sided atrium
OrphaCode: 99119
DisorderType: Morphological anomaly
Name: Persistent eustachian valve
OrphaCode: 99120
DisorderType: Morphological anomaly
Name: Congenital stenosis of the inferior vena cava
OrphaCode: 99122
DisorderType: Morphological anomaly
Name: Inferior vena cava interruption without azygos continuation
OrphaCode: 99123
DisorderType: Morphological anomaly
Name: Primary inferior vena cava aneurysm
OrphaCode: 652678
DisorderType: Morphological anomaly
Name: Azygos continuation of the inferior vena cava
OrphaCode: 99121
DisorderType: Morphological anomaly
Name: Congenital anomaly of the coronary sinus
OrphaCode: 95500
DisorderType: Category
Children: Name: Coronary sinus stenosis
OrphaCode: 99117
DisorderType: Morphological anomaly
Name: Coronary sinus atresia
OrphaCode: 99118
DisorderType: Morphological anomaly
Name: Congenital anomaly of hepatic vein
OrphaCode: 95507
DisorderType: Morphological anomaly
Name: Congenital portosystemic shunt
OrphaCode: 480531
DisorderType: Morphological anomaly
Name: Congenital pulmonary veins anomaly
OrphaCode: 98729
DisorderType: Category
Children: Name: Congenital pulmonary venous return anomaly
OrphaCode: 3090
DisorderType: Clinical group
Children: Name: Congenital partial pulmonary venous return anomaly
OrphaCode: 99124
DisorderType: Morphological anomaly
Name: Congenital total pulmonary venous return anomaly
OrphaCode: 99125
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Congenital pulmonary veins atresia or stenosis
OrphaCode: 3188
DisorderType: Clinical group
Children: Name: Congenital pulmonary vein atresia
OrphaCode: 99126
DisorderType: Morphological anomaly
Name: Primary pulmonary vein stenosis
OrphaCode: 642071
DisorderType: Disease
Name: Congenital renal artery stenosis
OrphaCode: 97598
DisorderType: Disease
Name: Extracranial carotid artery aneurysm
OrphaCode: 494424
DisorderType: Morphological anomaly
Name: Rare vascular tumor
OrphaCode: 211237
DisorderType: Category
Children: Name: Malignant vascular tumor
OrphaCode: 673466
DisorderType: Clinical group
Children: Name: Epithelioid hemangioendothelioma
OrphaCode: 157791
DisorderType: Disease
Name: Angiosarcoma
OrphaCode: 263413
DisorderType: Disease
Name: Benign vascular tumor
OrphaCode: 673470
DisorderType: Clinical group
Children: Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Tufted angioma
OrphaCode: 1063
DisorderType: Disease
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Spindle cell hemangioma
OrphaCode: 210584
DisorderType: Disease
Name: Congenital hemangioma
OrphaCode: 458775
DisorderType: Clinical group
Children: Name: Rapidly involuting congenital hemangioma
OrphaCode: 141184
DisorderType: Disease
Name: Partially involuting congenital hemangioma
OrphaCode: 458785
DisorderType: Disease
Name: Non-involuting congenital hemangioma
OrphaCode: 141179
DisorderType: Disease
Name: Anastomosing haemangioma
OrphaCode: 675359
DisorderType: Disease
Name: Acquired elastotic haemangioma
OrphaCode: 675597
DisorderType: Disease
Name: Hobnail hemangioma
OrphaCode: 675362
DisorderType: Disease
Name: Microvenular haemangioma
OrphaCode: 675369
DisorderType: Disease
Name: Epithelioid hemangioma
OrphaCode: 675396
DisorderType: Disease
Name: Papillary hemangioma
OrphaCode: 673543
DisorderType: Disease
Name: Reactive angioendotheliomatosis
OrphaCode: 673574
DisorderType: Disease
Name: Eccrine angiomatous hamartoma
OrphaCode: 673568
DisorderType: Disease
Name: Littoral cell hemangioma of the spleen
OrphaCode: 673538
DisorderType: Disease
Name: Intravascular papillary endothelial hyperplasia
OrphaCode: 673525
DisorderType: Disease
Name: Rare infantile hemangioma
OrphaCode: 210589
DisorderType: Clinical group
Children: Name: Multifocal infantile hemangioma with extracutenous involvement
OrphaCode: 2123
DisorderType: Malformation syndrome
Name: Isolated segmental infantile hemangioma
OrphaCode: 675380
DisorderType: Disease
Name: Airway infantile hemangioma
OrphaCode: 137935
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Borderline vascular tumor
OrphaCode: 673473
DisorderType: Clinical group
Children: Name: Kaposiform hemangioendothelioma
OrphaCode: 2122
DisorderType: Disease
Name: Kaposi sarcoma
OrphaCode: 33276
DisorderType: Disease
Name: Composite hemangioendothelioma
OrphaCode: 458758
DisorderType: Disease
Name: Retiform hemangioendothelioma
OrphaCode: 458763
DisorderType: Disease
Name: Papillary intralymphatic angioendothelioma
OrphaCode: 458768
DisorderType: Disease
Name: Pseudomyogenic hemangioendothelioma
OrphaCode: 673556
DisorderType: Disease
Name: Simple vascular malformation
OrphaCode: 211243
DisorderType: Category
Children: Name: Rare capillary malformation
OrphaCode: 211247
DisorderType: Category
Children: Name: Angioma serpiginosum
OrphaCode: 95429
DisorderType: Disease
Name: Familial multiple nevi flammei
OrphaCode: 624
DisorderType: Morphological anomaly
Name: Verrucous hemangioma
OrphaCode: 464318
DisorderType: Disease
Name: Rare capillary malformation with associated anomalies
OrphaCode: 458830
DisorderType: Category
Children: Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Cutis marmorata telangiectatica congenita
OrphaCode: 1556
DisorderType: Malformation syndrome
Name: Capillary malformation-arteriovenous malformation
OrphaCode: 137667
DisorderType: Malformation syndrome
Name: Rare venous malformation
OrphaCode: 211252
DisorderType: Category
Children: Name: Primary intraosseous venous malformation
OrphaCode: 140436
DisorderType: Disease
Name: Familial cerebral cavernous malformation
OrphaCode: 221061
DisorderType: Malformation syndrome
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Mucocutaneous venous malformations
OrphaCode: 2451
DisorderType: Malformation syndrome
Name: Glomuvenous malformation
OrphaCode: 83454
DisorderType: Malformation syndrome
Name: Bockenheimer syndrome
OrphaCode: 217008
DisorderType: Malformation syndrome
Name: Rare lymphatic system anomaly
OrphaCode: 211255
DisorderType: Category
Children: Name: Primary lymphedema
OrphaCode: 77240
DisorderType: Category
Children: Name: Primary lymphedema without systemic or visceral involvement
OrphaCode: 568041
DisorderType: Category
Children: Name: Congenital primary lymphedema without systemic or visceral involvement
OrphaCode: 2416
DisorderType: Clinical group
Children: Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Milroy disease
OrphaCode: 79452
DisorderType: Disease
Name: Congenital primary lymphedema of Gordon
OrphaCode: 569821
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Late-onset primary lymphedema without systemic or visceral involvement
OrphaCode: 289825
DisorderType: Clinical group
Children: Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: GJC2-related late-onset primary lymphedema
OrphaCode: 568051
DisorderType: Disease
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Meige disease
OrphaCode: 90186
DisorderType: Disease
Name: CELSR1-related late-onset primary lymphedema
OrphaCode: 569816
DisorderType: Disease
Name: Primary lymphedema with systemic or visceral involvement
OrphaCode: 568044
DisorderType: Category
Children: Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
OrphaCode: 568062
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Lymphedema-atrial septal defects-facial changes syndrome
OrphaCode: 86915
DisorderType: Malformation syndrome
Name: Disorder with multisystemic involvement and primary lymphedema
OrphaCode: 568047
DisorderType: Category
Children: Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Rare lymphatic malformation
OrphaCode: 2415
DisorderType: Category
Children: Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Common cystic lymphatic malformation
OrphaCode: 458833
DisorderType: Clinical group
Children: Name: Macrocystic lymphatic malformation
OrphaCode: 79489
DisorderType: Malformation syndrome
Name: Microcystic lymphatic malformation
OrphaCode: 79490
DisorderType: Malformation syndrome
Name: Mixed cystic lymphatic malformation
OrphaCode: 458792
DisorderType: Malformation syndrome
Name: Diffuse lymphatic malformation
OrphaCode: 141209
DisorderType: Malformation syndrome
Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Kaposiform lymphangiomatosis
OrphaCode: 464329
DisorderType: Disease
Name: Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
OrphaCode: 464321
DisorderType: Disease
Name: Rare arteriovenous malformation
OrphaCode: 211266
DisorderType: Category
Children: Name: Pulmonary arteriovenous malformation
OrphaCode: 2038
DisorderType: Morphological anomaly
Name: Cerebral arteriovenous malformation
OrphaCode: 46724
DisorderType: Morphological anomaly
Name: Vein of Galen aneurysmal malformation
OrphaCode: 1053
DisorderType: Morphological anomaly
Name: Dural sinus malformation
OrphaCode: 97339
DisorderType: Morphological anomaly
Name: Spinal arteriovenous metameric syndrome
OrphaCode: 53721
DisorderType: Malformation syndrome
Name: Foix-Alajouanine syndrome
OrphaCode: 79093
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome
OrphaCode: 141189
DisorderType: Clinical group
Children: Name: Wyburn-Mason syndrome
OrphaCode: 53719
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 1
OrphaCode: 141194
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 3
OrphaCode: 141199
DisorderType: Malformation syndrome
Name: Facial arteriovenous malformation
OrphaCode: 156230
DisorderType: Clinical group
Children: Name: Frontonasal arteriovenous malformation
OrphaCode: 141168
DisorderType: Malformation syndrome
Name: Maxillary arteriovenous malformation
OrphaCode: 141171
DisorderType: Malformation syndrome
Name: Mandibular arteriovenous malformation
OrphaCode: 141174
DisorderType: Malformation syndrome
Name: Congenital arteriovenous fistula
OrphaCode: 98731
DisorderType: Category
Children: Name: Congenital systemic arteriovenous fistula
OrphaCode: 2039
DisorderType: Morphological anomaly