Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically

Rare  Achondroplasia/Hypochondroplasia  Achondroplasia  skeletal dysplasia’s including  Achondroplasia/Growth hormone cleidocranial , deficiency/MPS/Turner  chondrodysplasia punctate  Fibrous dysplasia of bone  Collagenopathy and oncologic disease such as  Fibrodysplasia ossificans progressive Li-Fraumeni syndrome   Congenital hand and fore-foot conditions  Sterno Costo Clavicular Hyperostosis  Disorders of Development  Duchenne Muscular Dystrophy  Ehlers –Danlos syndrome  Fibrodysplasia Ossificans Progressiva  Growth disorders  Hypoparathyroidism  Hypophosphatemic rickets & Nutritional Rickets  Hypophosphatasia  Jeune’s syndrome  Limb reduction defects  Madelung disease  Metabolic  Multiple Hereditary Exostoses  Osteogenesis imperfecta  Osteoporosis  Paediatric Osteoporosis  Paget’s disease   Radial dysplasia  Skeletal dysplasia  Thanatophoric dwarfism  Ulna dysplasia Rare Cancer and  Adrenocortical tumours  Acute monoblastic leukaemia Tumours  Carcinoid tumours  Brain tumour  Craniopharyngioma  Colon cancer, familial nonpolyposis  Embryonal tumours of CNS  Craniopharyngioma  Ependymoma  Desmoid disease  Epithelial thymic tumours in paediatric age  Endocrine tumour  Ewing Sarcoma  Leukaemia  Gliomas   Gonadal sex cord and stromal tumours  Multiple endocrine neoplasia  Hereditary breast and ovarian cancer due to  BRCA1, BRCA2 and other  Paediatric cancers  Hereditary Cancer  Pseudomyxoma peritonei  Histiocitosis  Retinoblastoma  Leukaemia  Systemic

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Lymphoma  Von Hippel-Lindau disease  Lung Cancer  Waldenström macroglobulinemia  Malignant peripheral nerve sheet tumour  X-linked lymphoproliferative  Malignant Pleural Mesothelioma disease  Medulloblastoma  Melanoma  Mesothelioma  Myoepithelial carcinoma in children  Nasopharyngeal carcinomas  NETs  Neuro-endocrine Tumours  Neurofibromatosis  Pancreatic tumours (Pancreatoblastoma)  Paediatric extracranial germ cell tumours  Paediatric GIST  Paediatric tumours: Hepatoblastoma and Hepatocellular carcinoma  Paediatric Melanoma  Paediatric vascular tumours: Kaposiform hemangioendothelioma Pheochromocytoma and Paraganglioma  Paediatric very rare tumours: Gonadal sex cord and stromal tumours  Pilocytic astrocytoma  Pleuropulmonary Blastoma  Pons glioma  Rare head and neck Neurofibromatosis  Rare tumours  Retinoblastoma  Schwannomatosis  Thymoma  Thyroid carcinomas   Uveal Melanoma  Von Hippel Lindau disease Rare Cardiac  Adult congenital Heart Disease  Brugada syndrome  Anomalous coronary /ALCAPA  Cardiac disease, rare  Aortic Pathology  Cardiomyopathy, familial dilated  Arrhythmogenic right ventricular dysplasia  Heart malformation, congenital (DVAD)  Long QT syndrome, familial  Atresia of cardiac valves  Brugada syndrome  Common AV canal  Coarctation of  Congenital heart defects  (CMD)  Double left and right ventricles  Ebstein’s anomaly  Genetic/familial cardiomyopathies (like DCM,

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

HCM, ARVC, LVNC)  Hypertrophic cardiomyopathy (CMH)  Hypoplastic left heart syndrome  Hypoplastic right heart syndrome  Inherited Cardiac diseases   Long congenital QT syndrome  Paediatric  Paediatric hypertrophic cardiomyopathy  Paediatric inherited arrhythmia syndromes  Paediatric pulmonary hypertension  Polymorphic ventricular tachycardia (TVPC)  Primary arrhythmia syndromes (like long QT syndrome, Brugada syndrome, idiopathic VF, CPVT).  Taussig-Bing anomaly  Tetralogy of Fallot  Transposition of great arteries   Vascular Ring Rare Connective  AA amyloidosis  Ehlers-Danlos syndrome Tissues and  AL amyloidosis  Musculoskeletal  ANCA vasculitis  Osteogenesis imperfecta  Arthrogryposis multiplex congenital  Scleroderma  ATTR amyloidosis  Sjögren syndrome  Bicuspid aortic valve with thoracic aortic   Congenital club foot  Ectopia lentis  Ehlers-Danlos syndrome  Familial forms of BAV  Familial thoracic aortic and dissections (FTAAD)  Giant Cell Arteritis  Goldenhar syndrome  Inflammatory myositis  Juvenile Scleroderma  Klippel-Feil syndrome   LDS  Localized amyloidosis  Loeys-Dietz syndrome   Lupus Nephritis  Marfan syndrome  Moebius syndrome  Neurofibromatosis  OAS  Paediatric rheumatic conditions

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Pseduxanthoma Elasticum  SLE  Sprengel deformity  Stickler syndrome  Sturge-Weber  Systemic amyloidosis  Systemic Lupus Erythematosus  Systemic Sclerosis  Takayasu disease  Tuberous sclerosis Rare  Aglossia  Apert syndrome Craniofacial and  Anotia  Crouzon disease ENT  Cleft lip  Pfeiffer  Cleft palate  Esophageal atresia  Craniofacial tumours  Craniofacial syndromes (e.g. Crouzon, Apert etc.)   Deafness mitochondrial  Facial microsomia  Facial Cleft  Genetic deafness: isolated and syndromic deafness  Genetic and hearing impairment  Giant and congenital cutaneous dysplasia  Hemifacial Microsomia  Isolated Craniosynostosis  Lateral Cleft  Macroglossia  Microglossia  Microdeletion syndromes connected with cleft lip and palate and with midline developmental anomalies  including basal  Mandibulofacial Dysostosis  Microtia, Artesia and Craniofacial Microsomia  Midline dermoid  Nasal aplasia  Nose and base anomalies e.g. Treacher Collins, Goldenhar, Pierre robin, 22q11 microdeletion, CHARGE.  Oral commissure cleft  Orbitofacial cleft  Oto-Mandibular Dysplasia  Proboscis  Rare Maxillofacial surgical disorders  Rare otorhinolaryngologic malformations and laryngotracheal anomalies

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Recurrent respiratory/Tracheal papillomatosis (RRP)  Syndrome Craniosynostosis   Vascular malformations Rare Endocrine  5 alpha reductase deficiency  Acquired generalized lipodystrophy  Acromegaly  Acromegaly  Addison's disease  Addison's disease  Adrenal hormone deficiency  Albright hereditary osteodystrophy  Adrenal disorders including Cushing syndrome,  Alström syndrome hypoadrenalism and Congenital Adrenal  Cushing disease Hyperplasia  Growth hormone deficiency,  Adrenocortical cancer isolated, genetic forms  Bone Disorders  Hypoparathyroidism familial  Carney complex isolated  Complete Androgen Insensitivity  Hypothyroidism, congenital  Congenital Adrenal Hyperplasie  Hypoparathyroidism familial  Cushing’s Disease isolated  Disorders of  Pituitary deficiency  Disorders of Sex Development  Short stature due to growth  Endocrine Hypertension hormone resistance  Familial Endocrine Tumour syndromes  Turner syndrome  Growth disorders including GH deficiency, Hypopituitarism and Septa-optic dysplasia  Hereditary endocrine tumours and tumour syndromes  Homozygous Familial Hypercholesterolemia   Lysosomal Acid Lipase deficiency  Macronodular adrenal hyperplasia  Monogenic diabetes  Multiple Endocrine Neoplasia Type 1 and Type 2  Neonatal hyperinsulinism  Non-functioning  Paraganglioma  Partial Androgen insensitivity  Pheochromocytoma  Pituitary Diseases  Prader-Willi Syndrome  Rare causes of Primary Hyperaldosteronism  Rare congenital syndromes requiring endocrine treatment (growth hormone): Turner syndrome, Noonan,  Rare disorders of calcium metabolism  Rare forms of Diabetes  Rare neuroendocrine disorders such as late effects of brain tumours pheochromocytoma/paraganglioma- primary

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

aldosteronism- adrenal incidentaloma  Russell Silver Syndrome.  Sporadic Medullary Thyroid cancer   Thyroid disorders - thyroid dyshormonogenesis  Von Hippel Lindau Rare Eye  Anophtalmos/microphthalmos  Aniridia Diseases  Anti-MOG optic neuritis and other forms of  WAGR syndrome autoimmune mediated aetiologies of optic  Blindness neuropathies  Leber hereditary optic neuropathy  Chronic relapsing inflammatory optic  neuropathy (CRION)  Septooptic dysplasia  Congenital cataract   Congenital glaucoma  Uveitis, adult  Congenital stationary night blindness  Genetic vitreous retinal disease  Inflammatory eye diseases with a special interest in non-infectious and infectious uveitis in adults and children  Isolated optic neuritis (ION)  Multiple sclerosis optic neuritis (MSON)  Neuromyelitis optica optic neuritis (NMO-ON)  Neurophthalmological disorders  Ocular myasthenia gravis  Oculocutaneous and ocular albinism and cerebral visual impairment in children  Optic neuropathies  Relapsing optic neuritis (RION)  Systemic diseases or genetic predisposition like Birdshot chorioretinopathy and HLA B27 associated uveitis Rare  ACNES  Crohn disease Gastrointestinal  All Atresia’s (oesophagus, duodenum, small  Oesophageal Atresia and large intestine, anal)  Familial adenomatous polyposis  Chronic pseudo-obstruction  Intestinal pseudoobstruction  Diaphragmatic hernia chronic idiopathic  Functional short bowel syndrome due to  Pancreatitis intestinal fistula following abdominal infection or surgery gastroschisis  M. Hirschsprung  Inflammatory bowel disease  Motility disorder  Necrotizing  Omphalocele  Radiation enteritis  Short bowel syndrome Rare  Adenocarcinoma  Mayer-Rokitansky-Küster-Hauser Gynaecological  Malignant epithelial tumour of the ovary syndrome and Obstetric  Rare cancer of the cervix uteri, including

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

squamous cell carcinoma  Rare vulvovaginal tumour  Squamous cell carcinoma of vulva Rare  Aceruloplasminemia  Alpha- / Beta- Haematological  All rare non-oncological/benign thalassemia haematological diseases  Angioedema, hereditary  Atransferrinemia  Aplastic anaemia  DMT-1 deficiency  Dyserythropoietic anaemia,  Endoplasmic reticulum related defects leading congenital to neutropenia  Fanconi anaemia  Genetic hyperferritinemia without iron  Haematological diseases overload  Hemochromatosis  Haemophilia  Haemophilia  Hereditary Hemochromatosis, with particular  Langerhans cell reference to rare forms of "non-HFE"  Myeloproliferative disease, adult, Hemochromatosis rare  Hereditary Hyperferritinemia-Cataract  Paroxysmal nocturnal Syndrome haemoglobinuria  Iron Loading Anaemias  Shwachman-diamond syndrome  Iron Refractory Anaemia (IRIDA) due to  Sickle cell anaemia mutations in TMPRSS-6  Thrombocytopenic purpura,  Multiple myeloma autoimmune   Polycythaemia  Rare anaemias  Severe chronic neutropenia type IV - G6PC3 deficiency   Systemic mastocytosis  Thalassemia  Thrombotic microangiopathies such as thrombotic thrombocytopenic purpura (TTP) and haemolytic uremic syndrome (HUS)  Von Gierke disease type I  Von Willebrand Disease and other allied bleeding disorders Rare Hepatic  Atresia of bile ducts  Hepatic diseases  Autoimmune liver disease, to include PBS/PSC  Metabolic liver disease, paediatric, and AIH/AISC rare  Genetic liver disease, to include cholestasis in  Primary sclerosing cholangitis children and adults, Biliary atresia and ALF in  Wilson’s disease Infants. Non-alcoholic fatty liver disease (NAFLD)  Rare liver cancers, to include cholangiocarcinoma and fibrolamellar HCC  Wilson’s Disease

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

Rare Hereditary  3-methylcrotonyl glycinuria  Acyl-CoA dehydrogenase, medium Metabolic  3-methylglutaconic aciduria chain, deficiency  3-oxothiolase deficiency  , X-linked  Biotinidase deficiency  Alkaptonuria  Carnitine transport disorders (carnitine uptake  CDG syndrome deficiency, CPT I-II, SCAD, MCAD, LCHAD,  Cystinosis VLCADCGD  Fabry disease  Citrullinemia  Gaucher’s disease  Disorders of mitochondrial fatty acid oxidation  Glycogen storage disease  Fabry disease  Hypophosphatasia  Galactosaemia  Hyperglycinemia, isolated  Gaucher’s disease nonketotic  Hepatic glycogen storage disorders  Lesch-Nyhan syndrome  Hepatic metabolic diseases  Lysosomal disease  Homocystinuria   Lysosomal Acid Lipase Deficit  Mucopolysaccharidosis  Lysosomal storage disorders  Niemann-Pick  Metabolic myopathies  Phenylketonuria  Niemann-Pick A/B  Sanfilippo syndrome type C  Niemann-Pick C (Mucopolysaccharidose type 3C)  Organic acidemias (propionic academia)  Tay-Sachs disease/Sandhoff disease  Organic acidurias (propionic aciduria,  Trimethylaminuria methylmalonic aciduria, glutaric acidurias, HMG-CoA lyase deficiency).  Peroxisomal defects  Phenylketonuria  Sanfilippo Syndrome  Smith-Lemli Opitz syndrome  Tetrahydrobiopterin defects  Tyrosinemia  Urea Cycle Disorders  Von Gierke disease Rare  ANCA vasculitis  Amyloidosis Immunological  Auto inflammatory diseases such as FMF, HIDS,  Familial hemophagocytic and Auto- TRAPS, CAPS, angioedema, hereditary lymphohistiocytosis (FHL) inflammatory angioedema (HAE).  Immunodeficiency, primary  Autoimmune bullous dermatoses  Juvenile arthritis, idiopathic  Behcet’s Disease   Benign syndrome Lupus erythematosus  C1-inhibitor deficiency  Mediterranean fever, familial  Chronic Inflammatory Demyelinating  Muckle-Wells syndrome Polyneuropathy (CIDP)  Relapsing polychondritis  Connectives tissues diseases, particularly  SAPHO syndrome systemic sclerosis inflammatory myositis  Scleroderma  Erythromelalgia  Sjögren syndrome  Freiberg's disease  Giant Cell Arteritis  Growing Pains/'recurrent nocturnal limb pain in children'

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Guillain-Barre Syndrome (GBS)  Henoch-Scholein Purpura  Juvenile Dermatomyositis  Juvenile Idiopathic Arthritis (JIA)  Juvenile Spondyloarthritis/Enthesitis Related Arthritis (Spa-Era)  Kawasaki disease  Legg-Calvé-Perthes disease  Limb Pain syndromes (Fibromyalgia syndrome)  Localized Idiopathic Musculoskeletal Pain syndrome  Lyme disease  MALT lymphoma associated with Sjogren's disease  Multifocal Motor Neuropathy (MMN)  Myasthenia Gravis (MG)  Osgood-Schlatter Disease  Osteochondrosis  Patellofemoral Pain  Primary Immunodeficiencies  Rare Juvenile Primary Systemic Vasculitis  Rare systemic autoimmune vasculitis, including ANCA vasculitis, EGPA, anti-GBM disease, Takayasu's arteritis, Cogan's syndrome  Rheumatic Fever  Scheuermann's disease  Sever's disease  Sjogren’s disease (including MALT lymphoma)  Systemic amyloidosis  Slipped Capital Femoral Epiphysis  Systemic  Systemic lupus erythematosus (SLE)  Systemic sclerosis (SSC)  Takayasu's disease  Transient Synovitis  Tumour of hematopoietic and lymphoid tissues Rare  Anorectal Malformations  Malformations,  Asperger syndrome  CHARGE association Congenital  BAF complex disorders (e.g. Coffin-Siris)  anomalies Anomalies and  Biliairy Atresia  Ciliopathies rare intellectual  Beckwith-Wiedemann syndrome  Cornelia de Lange syndrome disorders  Bowel Atresia   CHARGE syndrome  Embryopathy  Cohesinopathies  Foetal valproic syndrome  Cornelia de Lange syndrome   Developmental anomalies  Intellectual deficiency with  developmental anomaly, rare  Filippi syndrome   Fragile-X syndrome 

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Gastroschisis  Klinefelter syndrome  Genetic  Limb hypoplasia - limb reduction  Loeys-Dietz syndrome defect  Marshall-Smith syndrome  Lowe syndrome  Microdeletion syndromes in connection with  Marshall-Smith syndrome developmental anomalies & rare intellectual  McCune-Albright syndrome disabilities  Moebius syndrome  Multiple anomaly syndromes (RAS-MAP,  Moebius syndrome, Cohen, Williams, Ohdo, Genitopatellar, Kabuki, 22q11, Monosomy 5p Treacher Collins and other spliceosome  disorders).  Poland anomaly  Ochoa syndrome  Prader-Willi syndrome  Perrault syndrome,  20  Phelan-McDermid syndrome   Pitt-Hopkins syndrome   Rare chromosome disorders, in particular  12p Phelan-McDermid syndrome  Thalidomide  Rare intellectual disability syndromes including  18 Angelman, Pitt Hopkins, Rett, Mowat-Wilson, X  linked ID.  RASopathies  Rubinstein-Taybi syndrome  Undiagnosed multiple anomaly syndromes Rare  Aneurysm Osteoarthritis syndrome  Behcet disease Multisystemic  Aortopathies  Cerebral cavernous malformations Vascular  Arterial Tortuosity syndrome  Familial  Beals syndrome  Rendu-Osler-Weber disease  Bicuspid Aortic Valve disease  Sturge-Weber syndrome  Buerger Arteritis  Vascular disease, rare  Congenital Heart disease Vasculitis  syndrome  Ectopia Lentis  Fabry disease  Familial thoracic aortic aneurysms  Heritable Thoracic Aortic disease  Kawasaki disease  Klippel–Trénaunay syndrome  Klinefelter syndrome  Inborn lymphatic diseases  Loeys Dietz syndrome  Marfan syndrome  OAS  Primary  Primitive Cardiomyopathy  Pulmonary Hypertension  Takayasu disease  Turner syndrome  Vascular Ehlers Danlos syndrome Rare  4H syndrome 

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

Neurological  ADEM  Alternating hemiplegia  Autoimmune encephalitis  Amyotrophic lateral sclerosis  Autoimmune  Anoxic seizures  Brain Arteriovenous malformation (BAVM)  Arachnoid cyst  Cerebrovascular malformations  Arnold-Chiari malformation  Chronic relapsing inflammatory optic  Aromatic L-aminoacid neuropathy (CRION) decarboxylase deficiency  Complex occlusive cerebral arteriopathies  , adult  Complex paediatric cerebrovascular disease  Arnold-Chiari malformation  Disorders mimicking cerebral palsy  Cerebellar ataxia, autosomal  Dural Arteriovenous Fistula (DAVF) dominant   Ceroid lipofuscinosis, neuronal  Early Infantile Epileptic Encephalopathies  Complex regional pain syndrome  with continuous spike-waves during  Dravet syndrome sleep  Dystonia  Functional movement disorders  Facioscapulohumeral muscular  Genetic epilepsies dystrophy  Hereditary  Friedreich ataxia  Hereditary spastic paraplegias  Gelineau disease  Huntington disease  Hereditary spastic paraplegia,  Hyperekplexia autosomal dominant complex  Hypomyelination and LBSL  Huntington disease  Hypomyelination with Atrophy of the Basal  Juvenile neuronal ceroid Ganglia and Cerebellum (H-ABC) lipofuscinosis (Batten disease,  Infantile epilepsy syndromes Spielmeyer-Vogt, disease, CLN3)  Infantile Spasms  Kleine-Levin syndrome  Inherited white matter disorders  Leukodystrophy  Isolated optic neuritis (ION)  Locked-in syndrome  Lambert-Eaton syndrome  Neurofibromatosis  Lennox-Gastaut syndrome  Multiple sclerosis  Leukodystrophies  Multiple system atrophy  Megalencephalic Leukoencephalopathy with  Myasthenia gravis Subcortical Cysts (MLC)   Metachromatic Leukodystrophy (MLD)  with brain iron  Mitochondrial disorders accumulation (NBIA)  Motor neuron disorders  Ondine-Hirschsprung disease  Movement disorders  Opsoclonus-myoclonus syndrome  Moyamoya  PANDAS  Multiple sclerosis associated optic neuritis  Perineural cyst (MSON)  Post-poliomyelitic syndrome  Muscle disorders  Proximal spinal muscular atrophy  Myasthenia gravis   Myoclonus  Ring chromosome 14  Narcolepsy-catalepsy  Spastic paraplegia, familial  NBIA  Stiff-man syndrome  Neurodegeneration with brain iron  Syringomyelia accumulation  Tourette syndrome  Neurodegenerative disorders (early onset  Transmissible spongiform Parkinson disease and rare dementias) encephalopathies

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Neurometabolic disease related to movement  Tremor hereditary essential disorders  Tuberous sclerosis  Neuromyelitis optica optic neuritis (NMO-ON,  undiagnosed neurological AQP4)  West syndrome  Neuro-ophthalmological disorders  Neurosarcoidosis  Niemann Pick C  Opsoclonus-myoclonus syndrome  Optic neuropathies  Paroxysmal dyskinesias- polyradiculitis  Rare cerebrovascular disorders  Rare Neuroimmune disorders  Rare neuropathies  Relapsing isolated optic neuritis (RION)  Spectrum (MOG)  Vascular malformation  Stiff-person syndrome  Subarachnoid haemorrhage (SAH)  Tuberose sclerosis  Vanishing White Matter (VWM)  Vein of Galen malformation  Venous malformation (Cavernomas/DVA)  West syndrome Rare  Anterior Cutaneous Nerve Entrapment  Amyotrophic lateral sclerosis Neuromuscular syndrome  Becker MD  Amyotrophic lateral sclerosis  Charcot-Marie- disease  Arthrogryposis (generic term)  Charcot-Marie-Tooth  Chronic inflammatory  Congenital myopathies demyelinating polyneuropathy  Congenital myasthenia  Duchenne Muscular Dystrophy  Congenital hydrocephalus  Myotubular myopathy  Dandy-Walker  Neuromuscular disease  Distal myopathies  Friedreich-ataxia  Hereditary myopathies  Immune-mediated conditions such as myasthenia gravis  Inflammatory neuropathies (e.g. CIDP)  Inherited muscle disease; - e.g. Duchenne Muscular Dystrophy, Other LGMD, Congenital Muscular Dystrophies, Congenital Myopathies, Congenital Myasthenic Syndromes, Myotonia Congenita and other myotonias and paramyotonias.   Mitochondrial muscle diseases such as Leigh, Alpers, Kearns-Sayre, MELAS, and MERRF syndromes  Myofibrillar myopathies

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Neural tube defects (, spina bifida)  Paediatric and adult neuromuscular disorders  Peripheral neuropathies  Rimmed vacuolar myopathies  Spinal Muscular Atrophies  Transthyretin Familial Polyneuropathy  Tendinopathy Rare Pulmonary  ARDS  Alpha-1 antitrypsin and alpha-1-  Chronic thromboembolic pulmonary antichymotrypsin deficiencies hypertension   Congenital Cystic Adenomatoid malformations  Gorham-Stout disease  Cystic fibrosis  Lymphangioleiomyomatosis  Idiopathic Pulmonary Fibrosis  Pulmonary arterial hypertension Lymphangioleiomyomatosis  Pulmonary fibrosis, idiopathic  Interstitial Lung diseases  Sarcoidosis  Langerhans Histiocytosis  Paediatric Pulmonary Hypertension  Primary ciliary dyskinesia  Pulmonary alveolar proteinosis  Pulmonary Arterial Hypertension  Pulmonary Metastases  Pulmonary Thrombo Endarterectomy (PTE) surgery  Sarcoidosis  Severe Acute Respiratory Failure in Adults (Respiratory ECMO) Rare Renal  Alport Syndrome  Cystinosis  Atypical haemolytic uremic syndrome  Nephrotic syndrome congenital and  Chronic disease and renal replacement infant form in children  Nephrotic syndrome, idiopathic,  Ciliopathies steroid-resistant, familial  Cystinosis  Polycystic kidney disease  Dens Deposit disease  Renal disease, genetic  Hereditary kidney diseases as congenital nephrotic syndrome, nephronophthisis, cystinosis, Oxalosis Inherited glomerulopathies (podocytopathies, Alport syndrome, MPGN); Fabry, Tuberous Sclerosis, FSGS, ARPKD, OFD, UMOD, MUC1, HNF1b, REN, HANAC.  Inherited Glomerulopathies  Inherited tubulopathies  Meckel-Gruber syndrome  Metabolic diseases affecting the kidney (hyperoxaluria, cystinosis, mitochondriopathies).  Multicystic renal dysplasia  Nephronophthisis and other inherited and sporadic forms of kidney dysplasia

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Nephrotic Syndrome  Oxalosis  Polycystic kidney Disease  Renal malformations  Renovascular hypertension in children  Syndromic and non-syndromic kidney malformations, including autosomal recessive and dominant polycystic kidney disease (ARPKD; ADPKD),  Tuberous sclerosis complex  Tubular diseases  Tubulopathies Rare  Anhidrotic with  Cutis laxa Immunodeficiency  Cutis marmorata telangiectatica  Aplasia cutis congenital congenital  ARCI  Ectodermal dysplasia syndrome  Atypical Fibroxanthoma  EEC syndrome  Autoimmune Skin diseases: lupus, scleroderma   Auto inflammatory skin disease  Giant pigmented hairy nevus  Basal Cell Nevus syndrome   Birt-Hogg-Dubé syndrome   Bullous autoimmune diseases  Oculocutaneous albinism  Bullous dermatoses  Papulosis, malignant atrophic  Collagen vascular disorders  Partington disease  disorders  Pemphigus vulgaris  Cutaneous diseases related to DNA Repair  Pemphigus, benign chronic familial disorders  Porphyria  Cutaneous localized overgrowth syndromes  Pseudoxanthoma elasticum  Cutaneous Lymphoma   Cutaneous disorders  Cutaneous Vascular anomalies  Cutis Laxa  Cutis Marmorata Telangiectasia  Dermatitis Herpetiformis  Dermatofibrosarcoma protuberans  Ectodermal Dysplasias  Ehlers-Danlos syndromes  Epidermolysis bullosa (adult and paediatric)  Genodermatoses: , Darier Disease, Gorlin Syndrome, CEB.  Hemangioma vascular formations  Hereditary and Acquired Angioedema  Hereditary tumour syndromes  Histaminergic and recurrent idiopathic Angioedema  Ichthyosis  Incontinentia pigmenti  Inflammatory and Granulomatous Dermatoses  KLICK

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Keratinizing Disorders: Mb Darier, disorders, Peeling Skin disorders.  Linear Morphea  Mal de Meleda  Marie-Unna hypotrichosis  Mastocytosis  Mendelian Disorders of Cornification (MEDOC)  Mendelian Skin and Nail diseases  Merkel Cell Carcinoma   Monogenic connective tissue disorders  Morbus Darier  Morbus Hailey-Hailey  Neurocutaneous disorders: NF1, NF2, Schwannomatosis, Tuberous sclerosis complex.  Neurofibromatosis  Nevus Andreu nevoid conditions  Nevi & Nevoid Skin conditions  Non-Histaminergic Angioedema   Palmoplantar  PIK3CA related disorders and interrelated pathways  Pigmentary and Vascular  Phacomatoses  Porphyria vascular formations  Premature skin ageing  Pseudoxanthoma elasticum  Rare skin tumours  Sebaceous Gland Carcinoma  Skin Fragility disorders  Toxic epidermal necrolysis  Tuberous Sclerosis Complex  Valvular malformations  Vascular tumours: Kaposiform hemangioendothelioma and Tufted Angioma.  Palmoplantar keratodermas (PPKs) Rare Urogenital  Bladder exstrophy  Anorectal malformation  Cloacal exstrophy  Bladder exstrophy  Complicated and complex pelvic floor  Epispadias disorders (including POP and male and female  Interstitial cystitis incontinence)  Cystinuria  Failed secondary urethral surgery  Female strictures  Functional urology requiring highly specialised surgery  Indeterminate sex  Lynch syndrome

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Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping

 Mesh repairs  Non-syndromic urogenital tract malformation of male and female e.g. in spina bifida  Oxaluria  Penile cancer  Polycystic disease  Post pelvic fracture surgery  Posterior urethral valves  Rare congenital urogenital anomalies, including anorectal malformations and the network  Rare Urogenital tumours  Recto urinary fistulae  Renal, ureteral and bladder amyloidosis  Retroperitoneal Fibrosis  Retroperitoneal Sarcomas  Severe types of Hypospadias  Sex disorder developments   Ureterolysis  Urethral diverticula in women  Urethroplasty  Vesicovaginal fistulae  Von Hippel Lindau disease

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