| erfelijkheid.nl | Erfocentrum | The website covers various topics related to heredity, including the inheritance of diseases, DNA testing, and genetic tests. Erfelijkheid.nl offers information about diverse tests such as DNA testing for diagnosis, medications, cancer cells, and lineage. The website also addresses aspects such as discussing genetic information with family members and the ethical considerations surrounding DNA testing and family planning. | Pregnancy & Childbirth → Reproduction 36 | dna 239 disease 285 test 769 research 8967 child 11566 | |
| stoet.nl | Stichting Opsporing Erfelijke Tumoren (StOET) | In 1985, a registry was established to improve medical care for individuals with an increased risk of hereditary cancer. The registry collects and analyzes data on cancer within families, including family trees, types of cancer, and diagnostic ages. Through the registry and collected data, the effectiveness of early cancer detection can be evaluated, and mortality rates from cancer have been reduced. | Prevention → Cancer Prevention 13 | mortality 16 registry 92 cancer 631 risk 2896 data 5872 family 6462 | |
| levenmetbrca.nl | Deirdre | The website explains that BRCA1 and BRCA2 gene mutations increase the risk of certain types of cancer, with approximately 5-10% of breast and ovarian cancer being hereditary. The website describes Deirdre’s personal journey, starting with her background as a single mother and entrepreneur, and the initial appointments she has made. The website was set up to document personal experiences and allow for reflection later, noting that Deirdre recorded very little of her previous gastric reduction journey. | Cancer → Breast Cancer 100 | documentation 452 cancer 631 journey 701 | |
| jojogenetics.nl | JoJoGenetics | The JoJoGenetics website, part of the Laboratory of Human Genetics at the Amsterdam UMC, focuses on DNA diagnostics for hereditary dyslipidemia, particularly Familial Hypercholesterolemia (FH). It offers information on diagnostic procedures, mutation databases, guidelines, and contact details of relevant clinics. The website illustrates the link between DNA analysis and the 'yo-yo effect' that is sometimes seen when analyzing mutations, and provides reference values for cholesterol levels. | | mutation 27 cholesterol 43 | North-Holland → Amsterdam 41253 |
| dobermannvereniging.nl | D.V.I.N. | The website provides news and information about the breed, including the character of the Dobermann, opportunities to buy puppies, and information about breeders. There is a section dedicated to health issues that occur in the breed, such as Dilated Cardiomyopathy (DCM), Von Willebrand Disease, Hip Dysplasia (HD) and Hepatitis/ Copper Accumulation, with information on screening and tests. The site also offers information about training, courses (VZH/BH, IPO/IGP, SPH, UV) and show activities, with results and prizes. | Dogs → Breed Associations 92 | breed standard 54 breeder 492 puppy 1367 health 6366 training 28133 | |
| ddrmd.nl | DDRMD | The DDRMD is a collaborative project involving all clinical metabolic centers in the Netherlands, established in 2001. The database primarily utilizes data from patients with confirmed diagnoses of inherited metabolic diseases, alongside data from newborns identified through abnormal newborn screening results, processed by the NEORAH system. The website provides downloadable files containing lists of metabolic diseases and incidence data, and offers information about participating metabolic centers. | Resources → Databases 348 | registry 92 center 1115 database 1153 data 5872 | |
| nipponinu.nl | NIPPON INU | The website provides information on the different breeds under the association’s umbrella, such as Akita, American Akita, Shiba, Shikoku, Kai, Kishu, and Hokkaido, including information on health and breeding. Users can find information about puppies, club breeders, events such as exhibition results and club matches, and possibilities for rehoming dogs. The website also contains the association’s regulations, news, and information about membership, including benefits such as a club magazine and discounts on activities. | Dogs → Breed 1211 | breeder 492 puppy 1367 breed 1744 membership 10442 event 45199 | |
| orthostatischetremor.nl | Stichting Orthostatische Tremor | The website offers information on the disease OT, including symptoms, diagnosis, causes, and treatment options such as medication, surgery, and spinal cord stimulation. Personal stories are shared, peer support is facilitated, and events such as meetings and national gatherings are announced. The foundation provides various materials, such as a patient folder, PowerPoint presentations, and news articles from various newspapers and magazines, as well as information about research and donations. | | symptoms 558 story 8285 research 8967 | |
| keuzehulp-dna-onderzoek.nl | National Central for Genetic Research | The website provides information about the possibility of identifying a hereditary condition through DNA testing, particularly when there is an increased risk due to family history. The decision-aid helps visitors to structure their considerations and reasons for or against DNA testing, and provides a form for further discussion with a clinical geneticist. Specific decision-aid modules are available for hereditary heart diseases (Lynch syndrome) and help users evaluate the potential benefits of medical controls following DNA testing. | Financial Services → Advice 1003 | dna testing 12 decision aid 14 | |
| pkuvereniging.nl | The Netherlands PKU Association | The website offers information about PKU, including what it is, the treatment, the future of the disease, and educational materials. Information is available on dietary advice, recipes, events (such as webinars and the national PKU day), and membership. The website provides access to an app ('Eiwitkenner') that helps track the diet and blood values. | Disease & Treatment → Diseases 829 | app 4595 recipe 5142 event 45199 | |
| stichting12q.nl | Stichting 12q | The foundation focuses on researching the causes and consequences of chromosome 12 abnormalities, with the goal of developing the best possible treatment plans. In 2015, Stichting 12q was founded, facilitated by research from the Erasmus MC and the support of sponsors and donors. The foundation receives donations and sponsorships and provides financial accountability, having raised €280,000 to date and received 625 donations. | Hospital & Acute Services → Hospitals 735 | sponsorship 2686 donation 5110 research 8967 treatment 21203 | |
| keuzehulp-kinderwens-erfelijkeziekte.nl | keuzehulp-kinderwens-erfelijkeziekte.nl | The website discusses the possibilities of having a child, considering hereditary diseases. Various options are discussed, such as natural conception, PGT (embryo selection), DNA testing, donor sperm/eggs, adoption, foster parenthood, and the decision not to have children. A decision-making aid helps users determine their preferences and document them for discussion with a doctor or counselor. The responses from the aid are recorded on a form. | Health → Pregnancy & Childbirth 4222 | dna testing 12 decision aid 14 childbirth 894 | |
| erfelijkemaagkanker.nl | erfelijkemaagkanker.nl | The website discusses the possibility of genetic factors playing a role in the development of stomach cancer, specifically the diffuse-type and lobular-type. DNA testing is mentioned as a method to determine a genetic risk of stomach cancer, specifically through mutations in genes such as CDH1 and CTNNA1. The website indicates that carriers of certain mutations, such as women with CDH1, may have an increased risk of breast cancer and consider preventative surgery. | Anatomy & Systems → Digestive System 41 | dna testing 12 mutation 27 breast cancer 71 prevention 1763 | |
| fopstichting.nl | FOP Stichting Nederland | The website provides detailed information about the genetic condition FOP, including symptoms, causes, treatment, and research. Specific sections are dedicated to individuals with FOP, their children, the impact on the workplace, visitors to patients, and medical professionals. The website also features newsletters, annual reports of the foundation, donation information, and contact details. | Initiatives & Projects → National Organizations 88 | donation 5110 newsletter 6504 foundation 6678 | |
| leefh.nl | Stichting LEEFH | The website provides information about what FH is, its symptoms, diagnosis, treatment, and genetic testing. LEEFH offers facilities such as DNA testing and family testing, and works with doctors and hospitals to improve care for FH patients. The website also includes news, contact information, and useful links, and is registered as an ANBI (registered charity). | Disease & Treatment → Cardiovascular Diseases 91 | dna testing 12 cholesterol 43 research 8967 treatment 21203 | |
| turnercontact.nl | Turner Contact Nederland | The website showcases various activities, such as a Women's Day, a JV Weekend, and a Junior Girls' Day, as well as an activities calendar for 2025. A section is dedicated to information about Turner syndrome, including treatments, diagnosis, and the impact of the syndrome on different life stages, such as childhood, puberty, and adulthood. The website offers various services, such as client support, experience coaches, and the possibility to donate and volunteer. | | volunteer 8367 treatment 21203 | |
| hchwa-d.nl | Vereniging HCHWA-D | The association caters to patients, carriers, potential carriers, caregivers, family members, and other involved individuals facing this condition. Through various sections including a care desk and research, the Vereniging HCHWA-D offers support and information. Recent research has been conducted to improve support outside of Katwijk. The association is supported by volunteers and accepts donations. A newsletter is available to stay updated on the latest developments, and an ongoing study is underway. | Social Organization → Patient Organizations 259 | disease 285 association 8562 membership 10442 care 12338 | South-Holland → Katwijk 2183 |
| shwachman.nl | Shwachman – Stichting Shwachman Syndrome Support | The platform describes the Shwachman Diamond Syndrome (SDS) as a rare hereditary condition with a variety of symptoms, including poor growth, skeletal abnormalities, infections, and learning and behavioral problems. The website offers information on the diagnosis, medical care and guidelines for the condition, and emphasizes the need for coordinated care due to the variability of the symptoms. Furthermore, the site contains news, documents (newsletters, brochures, presentations, etc.) and the possibility to become a member, with the aim of promoting contact among patients, providing information, and advocating for their interests. | | symptoms 558 member 10154 | |
| noonansyndroom.nl | Noonan Syndrome Foundation | The foundation represents the interests of people with the Noonan, CFC, or Costello syndrome, offering clear and accessible information. Expert centers have been designated for these syndromes: Radboudumc for Noonan, ENCORE (Erasmus MC-Sophia Kinderziekenhuis) for CFC and Costello, and the Vincent van Gogh Topklinisch Centrum for Neuropsychiatrie for genetic disorders. The Hubrecht Institute conducts research into cell activities related to the Noonan syndrome under the direction of Dr. Jeroen den Hertog. | Disease & Treatment → Chronic Diseases 1168 | donor 757 research 8967 | Utrecht → East-> Rijnsweerd 143 |
| stichtinghoofdzaak.nl | Stichting Hoofdzaak | The website offers information about the craniofacial disorder itself, including explanations and literature references. Personal stories are shared through video portraits and news articles featuring young people living with this condition. The foundation solicits donations and provides information on how these funds are used, including research and the promotion of scientists specializing in this field. | | dissertation 126 conference 763 donation 5110 video 6714 research 8967 | |
| rtsyndroom.nl | Rubinstein-Taybi Syndrome Foundation | The website contains information about the Rubinstein-Taybi syndrome, a hereditary disorder characterized by specific features such as broad thumbs and toes, and often intellectual disability. Features include sharing experiences, peer support, and asking questions to experts. User stories are shared, and there's a Facebook group for daily contact. The foundation also promotes research and accurate diagnosis of the condition. | | story 8285 research 8967 | |
| expertisecentrumpws.nl | Expertisecentrum Prader-Willi syndroom | The center focuses on medical, behavioral, and practical aspects of Prader-Willi syndrome. Recent research by the Erasmus MC-Sophia/Stichting Kind en Groei team has shown that the resting metabolism and food intake in children with PWS change with age, with muscle mass being a significant factor. The website offers news, information about medical alerts, and opportunities to support the Prader Willi Foundation and donate. | Disease & Treatment → Neurological Disorders 100 | research 8967 treatment 21203 | |
| uniek-erfelijk.nl | Erfocentrum | The site primarily focuses on providing information for parents with a child suffering from such an abnormality, including information about the condition, expectations, and experiences of other parents. Information is also available for the general public who wants to learn more about the condition and obtain brochures. Doctors can find information here about the guidance and treatment of children with rare chromosomal abnormalities. | | brochure 1642 parent 4318 | |
| praderwillistichting.nl | Prader-Willi Stichting | Prader-Willi syndrome is a rare genetic disorder characterized by features such as abnormal body composition, muscle weakness, hormonal imbalances, and an insatiable appetite. The organization provides information, support, and a platform for connection and knowledge sharing for patients, their families, professionals, and donors. In addition to the main website, the organization offers a range of services including newsletters, presentations, a Facebook page and a YouTube channel. | Social Organization → Patient Organizations 259 | stichting 481 donor 757 | |
| bardetbiedlsyndroom.nl | Bardet-Biedl Syndrome Foundation | The website was created by parents and is intended for anyone interested in BBS. Information is provided about the causes, characteristics, and treatment of the condition. A brochure has been compiled in collaboration with organizations such as VSOP and NHG, which is available for doctors and patients and can be downloaded from various websites. The website also contains information about research, seminars, news, donations, and contact opportunities, including links to relevant organizations and scientific sources. | Medical Care & Services → Primary Care 5699 | characteristics 32 brochure 1642 donation 5110 research 8967 | |
| hetvensterdelft.nl | Het Venster | The center offers information, advice, relaxation, and a listening ear to visitors. It collects knowledge from people with experience with chronic illnesses and shares this knowledge with others who need it. Het Venster creates a homely atmosphere where people with similar conditions can meet and find distraction, more than just the illness itself. | Online Communities → Support Groups 102 | meeting 2381 knowledge 3528 community 7931 | South-Holland → Delft 5309 |
| atrxsyndroom.nl | Stichting ATR-x Syndroom Nederland | The foundation was established to connect parents and experts and to find answers to questions about the ATR-x syndrome, which affects approximately 25 boys in the Netherlands. The ATR-x syndrome, characterized by a severe developmental delay and specific facial features, is caused by a genetic abnormality and only occurs in boys. The website offers information about the syndrome, the foundation, downloadable folders, and opportunities to connect with other families. | Social Organization → Patient Organizations 259 | syndrome 21 folder 300 family 6462 foundation 6678 | |
| ptenbelgienederland.nl | Stichting PTEN België/Nederland | The foundation organizes informative events to connect and support patients, family members, and professionals with PHTS. The website offers information on various aspects of PHTS, such as the cause, symptoms, diagnosis, treatment, and prevention. The website also contains information about patient and family experiences, an events calendar, and various support resources such as Facebook groups and networks. | | treatment 21203 event 45199 | |
| rotterdamsemaatjes.nl | Stichting Rotterdamse Maatjes | The website provides information about Cystic Fibrosis (CF), a hereditary and incurable disease characterized by thick mucus that impairs the function of various organs. Statistics are presented regarding the prevalence of CF in the Netherlands (1,600 people), birth rates (30 children per year), and the average life expectancy (approximately 50 years). The website promotes the 2025 auction and offers opportunities to support the Taai Foundation through sponsorship agreements and donations. The organization is based in Rotterdam. | Football → Competitions 1072 | auction 561 sponsorship 2686 foundation 6678 research 8967 restaurant 11215 | South-Holland → Rotterdam 25048 |
| pvap.nl | Acute Porphyria Patient Association (PVAP) | The association was founded in 2018 by patients with acute porphyria and aims to provide a platform for knowledge sharing and support. The website contains information about the different types of porphyria, symptoms, diagnosis, treatment, and how to prevent an attack. Furthermore, patient stories are shared and useful links and a medication alert/emergency plan are available. | Social Organization → Patient Organizations 259 | attacks 12 diagnosis 1490 association 8562 treatment 21203 | |
| kansvoorpkankinderen.nl | Maak Je Sterk | PKAN is a rare genetic disease that often leads to premature death due to iron buildup in the brain. It has a significant impact on affected children and their families. The Maak Je Sterk foundation works with researchers and provides support to families struggling with the consequences of PKAN. A recent example is the private concert given to PKAN-hero Kevin by Guus Meeuwis. The website features a film depicting the life of Joris, a child with PKAN, and the efforts of the foundation, and a mini-docu about the experiences of the parents of Seppe. | | film 3007 foundation 6678 research 8967 | |
| stichtinglepelaar.nl | Stichting Lepelaar | The foundation focuses on gaining a deeper understanding of PKAN through collaboration with research institutes and specialized corporations. Their goal is to develop and provide a high-quality solution for PKAN patients in a timely and cost-effective way. Stichting Lepelaar’s mailing address is Damsterkade 8/15, 9711 SE Groningen, The Netherlands, and they are registered with the RSIN 8573.29.807 and Chamber of Commerce 68167660. | Social Organization → Charities 2419 | donation 5110 | Netherlands → Groningen 23734 |
| keuzehulp-dna-onderzoek-lynch.nl | Nationale Wetenschaps- en Technologiefonds (NWO) | The website offers a brochure about Lynch syndrome and the possibility of a DNA test. A decision aid helps visitors to organize their thoughts and preferences about a DNA test through a series of questions. The website shares experiences of people with Lynch syndrome in their families, allowing visitors to gain a better understanding of the impact of the condition. | Biology → Genetics 74 | dna testing 12 decision aid 14 insurance 6359 | |
| riding4nick.nl | Team Riding4Nick | The team organizes various actions throughout the year to raise funds for Duchenne Heroes. The website contains information about the Duchenne Heroes, a 700 km mountainbiking trip that is held annually across Europe. Information is shared about previous events, actions and the proceeds from these actions, as well as updates via social media. | Disease & Treatment → Neurological Disorders 100 | duchenne 21 action 384 sponsors 2642 collection 7566 | Neder-Betuwe → Casterhoven 248 |
| inactievoorpln.nl | Stichting PLN | The website offers opportunities to start your own action or join existing actions, allowing the foundation to raise funds. Donations can be collected through various means, including sponsoring sporting challenges, selling handmade products, and clearing out attics. The foundation was established to find a safe and affordable treatment for genetic harspier disease PLN, with 100% of donations going towards research. | Humanitarian Organizations → Food Aid 145 | action 384 donation 5110 foundation 6678 research 8967 | |
| 49xxxxy-syndroom.nl | Onbekend | Lucas was born in March 2018 with the 49,XXXXY syndrome, a rare condition affecting approximately 1 in 85,000 to 100,000 boys/men. The website offers information about the syndrome, the parents' story, and a blog with updates on Lucas' situation. A collection of scientific articles and interesting websites is also provided. To protect Lucas’ privacy, a different name is used on the site. There is an archive of karyograms of Lucas. | Medical Care & Services → Pediatric & Child Health 2121 | lucas 11 article 6000 story 8285 blog 13392 | |
| vved.nl | Vereniging voor Ectodermale Dysplasie | The website offers information about Ectodermale Dysplasia, including an explanation of the condition, its symptoms, and possibilities for early diagnosis and research. The association organizes annual information days where members and peers can share experiences, exchange knowledge, and be informed about developments related to ED. Furthermore, the association offers a buddy system to help members connect with specialists and peers, and supports their network through newsletters, sponsorship and an ANBI status. | Social Organization → Patient Organizations 259 | sponsorship 2686 association 8562 | |
| syngap1.nl | Stichting Syngap Research Fund Europa | The foundation was established in the Netherlands in 2022 and is registered as a charitable organization. The SYNGAP1 syndrome is a rare genetic disorder caused by a mutation in the SYNGAP1 gene, leading to neurological problems. The underlying cause is a ‘de novo mutation’ in the SYNGAP1 gene, meaning the mutation is not inherited and occurred early in the process. | Biology → Genetics 74 | mutation 27 gene 36 foundation 6678 research 8967 | |
| pku-research.nl | Stichting PKU Research | PKU is an inherited condition caused by a defective gene and affects approximately one in 18,000 babies born in the Netherlands. The Stichting PKU Research focuses on PKU research, as rare diseases receive less attention and funding than more prevalent diseases. Action Company Leeuwerik Plaat b.v. raised €10,600 for PKU research through an action with employees, and the company itself covered the costs of a crowdfunding platform. | Disease & Treatment → Diseases 829 | action 384 research 8967 | |
| dejana.nl | British Institute for Brain Injured Children (BIBIC) | Dejana, a 28-year-old woman, is living with Rett syndrome and faces significant challenges. Her mother has spent over 25 years developing therapies for Dejana, initially based on the Son-Rise method and later incorporating the Brain Train stimulation program developed by the British Institute for Brain Injured Children (BIBIC). The website also includes a blog and is designed and maintained by Branka Novakovic, Richard van Houten, and Rascha Thomas, with all rights reserved. | | therapy 7448 blog 13392 | |
| satb2.nl | SATB2 Netherlands and Belgium Foundation | The site offers a forum where families from the Netherlands and Belgium can share experiences and connect with each other. Information about the syndrome itself is available, including medical information, stories, and news about developments and research. The website facilitates donations and organizes digital meetings and annual gathering days, such as the gathering day in the Ouwehands Zoo. | Context → Community 57410 | forum 1362 donation 5110 research 8967 news 15293 | |
| overhae.nl | HAE Nederland | The website describes HAE and the often delayed diagnosis, as symptoms are easily mistaken for other conditions. Information is provided about the symptoms of HAE, including skin swelling, abdominal pain, and nausea, and about triggers for attacks. The website offers information on diagnostic tests, treatment options, both on-demand and preventative, and self-medication of medication. Aspects such as living with HAE, pregnancy and travel are also discussed. | Disease & Treatment → Allergies 157 | symptoms 558 medication 1164 diagnosis 1490 treatment 21203 | |
| silverrussellsyndroom.nl | silverrussellsyndroom.nl | Chantal describes how she only recently discovered that she has the silver russell syndrome in 2012, and that her medical records and diagnoses were previously concealed. The website includes sections such as a diary with entries dating from 2023 to 2025, tips and tricks, and links to her YouTube channel. The site provides information about the variability of RSS cases, the genetic causes (specifically mentioning chromosome 11), and a list of the symptoms she experiences, such as chronic pain and muscle tremors. | Disease & Treatment → Chronic Diseases 1168 | genetics 104 diary 212 rehabilitation 1512 pain 1919 tips 2789 | |
| party4duchenne.nl | Party4Duchenne | The foundation was established following the diagnosis of Haider Ali Raza with Duchenne Muscular Dystrophy in 2005. The website provides information about Duchenne Muscular Dystrophy, including its symptoms, treatment options, and ongoing research. It offers resources and support, including educational programs, assistance programs, and opportunities for volunteering, fundraising, and patient and community engagement. | Social Organization → Charities 2419 | duchenne 21 resources 310 patient 4082 donation 5110 research 8967 | |
| friesestabijhoun.nl | friesestabijhoun.nl | The website covers health issues commonly found in the Stabijhoun, such as hip dysplasia, elbow dysplasia, epilepsy, and cerebral dysfunction. It explains why breeding with a Friese Stabij is desirable, including information about known issues and how the NVSW handles them in breeding policies. The site highlights that the breed is generally healthy, despite some hereditary conditions, placing this in the broader context of the many known genetic conditions in dogs. | Animals → Dogs 5879 | breed 1744 health 6366 | |
| huisjejasmijn.nl | None specified | Jasmijn is a 6-year-old girl with trisomy 9 mosaic, a rare and serious genetic condition, who lives with her family in Tienray. Despite her medical challenges, such as difficulty with drinking and sleeping attached to a monitor, Jasmijn is a cheerful and determined person. Her family receives intensive care and support from a team of caregivers to manage the challenges of Jasmijn's condition. | Family → Children 2798 | family 6462 care 12338 | Horst aan de Maas → Tienray 46 |
| noudwillems.nl | noudwillems.nl | Noud was born with Spherocytosis from his father and Duchenne from his mother, who carries the Duchenne gene. Despite medical setbacks, Noud is a cheerful and curious child who faces the world with a smile. The blog shares updates on Noud’s life, including participation in activities such as the cycling team from Oirschot and visits to Villa Pardoes and other events. | Childcare → Special Needs 55 | duchenne 21 family 6462 blog 13392 | Oirschot → East-West-and Middle Beers 214 |
| trisomie9.nl | Stichting Trisomie 9 | The website contains information about the condition itself, daily life with this abnormality, and relevant agencies that offer support and assistance. The foundation also works to promote scientific research related to Trisomy 9. The website includes news, contact information, and links to social media. | Social Organization → Patient Organizations 259 | research 8967 | |