The EJP-RD is organising a Workshop and Hackathon: “Molecular pathways for rare disease (FAIR) data analysis” that will take place from November 26-29, 2019 at the University of Maastricht in The Netherlands.
All information on this event and registration here
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Cholestasis-lymphedema syndrome
Dahlberg-Borer-Newcomer syndrome
Deafness-lymphedema-leukemia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome
Lymphedema-distichiasis syndrome
Lymphedema-posterior choanal atresia syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Non-hereditary late-onset primary lymphedema
Noonan syndrome and Noonan-related syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Primary lymphedema with associated anomalies
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Blue Rubber Bleb Nevus syndrome
Capillary malformation-arteriovenous malformation
Cerebral arteriovenous malformation
Cutis Marmorata Telangiectatica Congenita
Diffuse neonatal hemangiomatosis
Facial arteriovenous malformation
Familial cerebral cavernous malformation
Infantile hemangioma of rare localization
Kaposiform hemangioendothelioma
Klippel-Trénaunay-Weber syndrome
Macrocystic lymphatic malformation
Megalencephaly-capillary malformation-polymicrogyria syndrome
Microcystic lymphatic malformation
Mixed cystic lymphatic malformation
Mucocutaneous venous malformation
Non-involuting congenital hemangioma
Partially-involuting congenital hemangioma
Primary intralymphatic angioendothelioma
Pulmonary arteriovenous malformation
