Sunday, July 14, 2024

Children’s Cancer Clinic Opens in Reno Led By Pediatric Hematologist Oncologist Dr. Caroline Hastings (Addi and Cassi’s doctor!)

October 5, 2012 by  
Filed under Featured Stories, News

Dr. Caroline Hastings with Addi and Cassi's experimental medicine called cyclodextrin

Many people do not know that Addi and Cassi’s primary doctor is not a geneticist, metabolic specialist, neurologist, or cholesterol expert but is one of the nation’s leading pediatric cancer doctors.  Her name is Dr. Caroline Hastings and she is the medical director for the Hematology/Oncology/Bone Marrow Transplant unit at Children’s Hospital & Research Center Oakland (CHRCO) and runs The Children’s Specialty Center of Nevada, under the Cure 4 the Kids Foundation.

Hugh and I first met Dr. Hastings in Reno about 5 years ago when we were desperately searching for a diagnosis for the twins. While other doctors were unable to help us find a diagnosis, Dr. Hastings continued to work with Hugh and I to get answers as to why the twins were losing their ability to walk and talk.  Even though they did not have cancer, she was committed to helping us continue to do testing.

I remember when a world renown lysosomal storage diseases (LSD) doctor at Thomas Jefferson University told us that Addi and Cassi did not have a lysosomal storage disease and was refusing to do more testing on the twins’ blood samples. After doing all her research, Dr. Hastings believed the twins had an undiagnosed LSD and was arguing with him for more testing.   Ultimately she was right – the twins were suffering from a LSD called Niemann Pick Type C disease, a fatal cholesterol condition.

When we found a potentially lifesaving therapy for Addi and Cassi, Dr. Hastings was the first to step in to help even though helping would take a lot of personal time outside of office hours and she would not be compensated for it.  There are not many doctors in the country that would help parents file treatment protocols with the FDA or learn about a genetic disease outside of their specialty area.  But Dr. Hastings did just that and had the confidence to be the first doctor in the world to try an experimental sugar compound on the twins called cyclodextrin.

When your kids are dying of a rare disease or leukemia or a brain tumor, Dr. Hastings is the type of dedicated doctor you want on your team!  We have met countless doctors due to Addi and Cassi’s illness and we can assure you that doctors like Dr. Hastings don’t exist in many places anymore.

Dr. Hastings is so dedicated to helping kids and families, that for the past 20 years she has traveled from Children’s Hospital & Research Center in Oakland to Reno (even during 3 pregnancies!) on a weekly basis to help treat patients in Northern Nevada. Most of the local children with cancer and are too weak to travel from Nevada to California to get access to special research cancer protocols Dr. Hastings runs. So she brings access to cutting edge cancer treatments to the kids here, which requires her to stay overnight in Reno and be away from her own children.

If Dr. Hastings is not in the clinic treating patients or writing FDA treatment protocols for us, she is writing books to assist physicians and nurses who are training to treat kids with cancer or blood disorders.  We always joke about when she sleeps – we’re told she doesn’t and we believe it!

We are very fortunate to have insurance but many families are not so lucky. While most doctors won’t see patients without insurance, Dr. Hastings has helped take on several cases. Hugh and I are always amazed at how selfless she is. She wants to give kids and their families in Northern Nevada the kind of treatment that they would get if they traveled to a major medical center specializing in chronic and severe disease in children.  The only reason we are able to treat Addi and Cassi in our local community is because of Dr. Hastings. Every day we are incredibly grateful for Dr. Hastings and all she has done for our family and countless children in our community.

Children’s Specialty Center of Nevada on Facebook

Cure 4 the Kids Foundation on Web

Children’s Hospital and Research Center Oakland – Children’s Cancer information

Walgreen’s Support Allows Our Twins with Niemann Pick Type C To Receive Cyclodextrin Treatments At Home

July 8, 2012 by  
Filed under Cyclodextrin

Addi (l) and Cassi (r) will start their IV Cyclodextrin treatments at home next week after three years in a hospital settting

We are sorry for the lack of posts in recent months! Hugh and I have been extremely busy with rare disease initiatives for Solution Therapeutics, our virtual biotech, as well as helping the Global Genes Project with a number of community based rare disease projects.

We would like to report that after three years of receiving intravenous cyclodextrin infusions (IV Cyclo) in a hospital setting, we have received both hospital Institutional Review Board (IRB) approval and what is considered the “green light” from the FDA to begin our IV Cyclo at home.

We can’t begin to express what this means to our entire family to begin IV Cyclo treatments at home.  Since April 2009, we have been making bi-weekly, and then weekly, visits to our local hospital in order for the twins to receive IV Cyclo.  Their weekly infusion lasts eight hours. By the time we leave our house, initiate the infusion, disconnect the tubing and get home, we’re dealing with a 10+ hour day.

We estimate we have done about 225 IV Cyclo infusions (x2) since we started on this journey to treat Addi and Cassi with Hydroxypropyl Beta Cyclodextrin (HPβCD)– that works out to 2250 hours in the hospital and this does not include our bi-monthly intrathecal cyclodextrin (IT Cyclo) treatments so that HPβCD can reach the twins’ brains.

Why has it taken over three years to get cyclodextrin started in a home setting?  Very good question!

First, we had to contend with the FDA. Our original treatment protocol called for many procedures such as blood pressure checks and having special equipment in place in the event the twins experienced anaphylactic shock from the compound.  Since the twins were the first in the United States to receive this type of treatment, the safety protocol that needed to be in place with the FDA was incredibly strict.   We had to prove the compound was safe and with limited side effects.  (Note: we have not had one reported side effect to FDA in over three years since starting treatment.)

Next, we had issues with how the cyclodextrin was produced from a powder into a sterile liquid form that could be put into Addi and Cassi’s bodies. Our hospital pharmacy was creating our liquid cyclodextrin compound from scratch each week using extensive filters.  This is not a drug you can purchase from a pharmaceutical company, although we are trying to work on an agreement with Johnson & Johnson to provide us with a cyclodextrin solution since they already use it in another drug. Until that agreement in place, we have had to spent tens of thousands of dollars to have it made from scratch and in sterile form.

In order to get an IV Cyclo formula created outside of the hospital, we searched to find a pharmacist and organization willing to help us move to our home. This is where Walgreen’s stepped up to the plate. Ron Vaught, our local Walgreen’s Infusion Services pharmacist, is amazing.  After reviewing our case and meeting with our hospital pharmacist to understand the methods to make the liquid cyclodextrin, Ron contacted Walgreen’s corporate offices to see if the company would allow him to make this formula for our twins.  It was a “long shot” due to corporate liability issue (this seems to be the first thing that comes up before someone can decide to help us) but Walgreen’s was willing to work with us and we are so grateful!

After receiving Walgreen’s commitment to make the IV cyclodextrin formula, we had to alter our treatment protocol for the FDA to allow for home based infusions using Walgreen’s Infusions Services and nurses.  We then submitted the new protocol to the FDA and Children’s Hospital Oakland IRB.  Our protocol called for a “transition period” where the twins would receive their treatments in a clinic setting at the Children’s Specialty Center of Nevada with the formula mixed by Ron at Walgreen’s Infusion Services.  We have been doing that for the past 3-4 months and all has been well.

Critical Care Systems of Reno, NV, worked with Walgreen’s Infusion Services and Dr. Caroline Hastings to get our insurance approval to do these treatments in our home.

This Tuesday, July 17, at 9:30am, two Critical Care Systems nurses will arrive at our home to connect Addi and Cassi’s IV Mediports (which are installed in their chest). With them will be the cyclodextrin solution made by Ron at Walgreen’s and a new portable pump.  The nurses are not allowed to push the “start” button on the home infusion system — that will be left to Hugh and I due to “liability” issues.  We will also be trained on how to “de-access” the ports, which means we will flush them and take the needles out.

After watching the procedure 225 times (x2), I am pretty sure I can de-access the port in my sleep!  And after three years in the hospital, I seriously can’t wait to push that pump button!



Rare Disease Day Logo and Ribbons – Patient Advocates Join The RARE Team!

February 17, 2012 by  
Filed under Featured Stories, Rare Disease

Here are the Rare Disease Day logos for 2012 from the Global Genes Project, the leading rare disease advocacy organization for the rare disease community.

Since Rare Disease Day 2012 falls at the end of February each year, the date for 2012 is Feb. 29 (leap year).

Wear jeans or demin on Rare Disease Day 2012 — Wear That You Care!  Post pictures of you wearing jeans or denim on the Global Genes Project Facebook page and join the #1MILFORRARE team — let’s unite 1 million people who care about rare so we can have our voices heard!

For the official rare disease blue denim ribbon, contact


Is Your Disease on the RARE List™ – If So, More Bad News!

February 6, 2012 by  
Filed under Featured Stories

I wonder if people truly understand what it means if their rare disease or disorder is on the RARE List™?

Last week, the Global Genes Project, leading patient advocacy organizations representing the rare disease community, issued the RARE List™, a stunning 65 page alphabetical listing of roughly 7,000 known rare diseases and disorders.

Did you know this frightening statistic?

  • 95 percent of the medical conditions on the RARE List™ do not have a single FDA approved drug treatment!

As my last blog pointed out, the FDA only approved approximately 21 new drugs last year for ALL diseases combined. Only a handful of new drugs are approved each year for the rare conditions on the RARE List™.

If you, a loved one, a friend or even an acquaintance suffers from one of the rare conditions on the RARE List™, I ask that you take action TODAY and join the 1 Million for RARE™ awareness campaign. If you study rare diseases or are a doctor treating rare diseases or a genetic counselor, please take action and support the campaign.  This awareness campaign was created by the  Global Genes Project™ and was developed by leading advocates representing various rare diseases so we can combine forces and drive the rare disease agenda.

The RARE List™ – Listing of Rare Diseases and Disorders

Rare Diseases and Disorders – Starting With “A”

Aagenaes syndrome, Aarskog syndrome, Aase Smith syndrome, ABCD syndrome, Abderhalden Kaufmann Lignac syndrome, Abdominal aortic aneurysm, Abdominal chemodectomas with cutaneous angiolipomas, Abdominal cystic lymphangioma, Abdominal obesity metabolic syndrome, Aberrant subclavian artery, Abetalipoproteinemia, Abidi X-linked mental retardation syndrome, Ablepharon macrostomia syndrome, Abrikosov’s tumor, Abruzzo Erickson syndrome, Absence of fingerprints congenital milia, Absence of gluteal muscle, Absence of septum pellucidum, Absence of Tibia, Absence of tibia with polydactyly, Absent breasts and nipples, Absent corpus callosum cataract immunodeficiency, Absent patella, Absent T lymphocytes, Abuse dwarfism syndrome, Acalvaria, Acanthamoeba infection, Acanthocheilonemiasis, Acanthocytosis, Acanthoma, Acanthosis nigricans, Acanthosis nigricans muscle cramps acral enlargement, Acardia, Acatalasemia, Accessory deep peroneal nerve, Accessory pancreas, ACDC, Aceruloplasminemia, Acetyl CoA acetyltransferase 2 deficiency, Acetyl-carnitine deficiency, Achalasia, Achalasia microcephaly syndrome, Achalasia  familial esophageal, Achard syndrome, Achard Thiers syndrome, Acheiropody, Achondrogenesis, Achondrogenesis Kozlowski type, Achondrogenesis type 1A, Achondrogenesis type 1B, Achondrogenesis type 2, Achondrogenesis type 3, Achondrogenesis type 4, Achondroplasia, Achondroplasia and severe combined immunodeficiency, Achondroplasia and Swiss type agammaglobulinemia, Achromatopsia 2, Achromatopsia 3, Achromatopsia incomplete X-linked, Acinic cell carcinoma, Acitretin embryopathy, Ackerman syndrome, Acoustic neuroma, Acquired agranulocytosis, Acquired angioedema, Acquired fructose intolerance, Acquired hemophilia, Acquired hypoprothrombinemia, Acquired Von Willebrand syndrome, Acral dysostosis dyserythropoiesis syndrome, Acral lentiginous melanoma, Acro coxo mesomelic dysplasia, Acro-pectoro-renal field defect, Acrocallosal syndrome  Schinzel type, Acrocapitofemoral dysplasia, Acrocephalopolydactylous dysplasia, Acrocephalopolydactyly, Acrocephaly pulmonary stenosis mental retardation, Acrodermatitis, Acrodermatitis enteropathica, Acrodysostosis, Acrodysplasia scoliosis, Acrodysplasia with ossification abnormalities  short stature and fibular hypoplasia, Acrofacial dysostosis ambiguous genitalia, Acrofacial dysostosis atypical postaxial, Acrofacial dysostosis Catania type, Acrofacial dysostosis Palagonia type, Acrofacial dysostosis Preis type, Acrofacial dysostosis Rodriguez type, Acrofrontofacionasal dysostosis syndrome, Acrogeria  Gottron type, Acrokeratoelastoidosis of Costa, Acromegaloid changes  cutis verticis gyrata and corneal leukoma, Acromegaloid facial appearance syndrome, Acromegaloid features  overgrowth  cleft palate and hernia, Acromegaloid hypertrichosis syndrome, Acromegaly, Acromelanosis, Acromelic frontonasal dysostosis, Acromesomelic dysplasia, Acromesomelic dysplasia Campailla Martinelli type, Acromesomelic dysplasia Hunter Thompson type, Acromesomelic dysplasia Maroteaux type, Acromicric dysplasia, Acroosteolysis dominant type, Acroosteolysis with osteoporosis and changes in skull and mandible, Acropectoral syndrome, Acropectorovertebral dysplasia F form, Acrorenal mandibular syndrome, Acrorenal syndrome recessive, Acrospiroma, ACTH deficiency, ACTH resistance, ACTH-independent macronodular adrenal hyperplasia, Actinic cheilitis, Actinomycosis, Acute articular rheumatism, Acute biphenotypic leukemia, Acute cholinergic dysautonomia, Acute disseminated encephalomyelitis, Acute erythroblastic leukemia, Acute erythroleukemia, Acute fatty liver of pregnancy, Acute hemorrhagic leukoencephalitis, Acute idiopathic polyneuritis, Acute intermittent porphyria, Acute lymphoblastic leukemia, Acute lymphoblastic leukemia congenital sporadic aniridia, Acute lymphoblastic leukemia  childhood, Acute megakaryoblastic leukemia, Acute monoblastic leukemia, Acute mountain sickness, Acute myeloblastic leukemia type 1, Acute myeloblastic leukemia type 2, Acute myeloblastic leukemia type 3, Acute myeloblastic leukemia type 4, Acute myeloblastic leukemia type 5, Acute myeloblastic leukemia type 6, Acute myeloblastic leukemia type 7, Acute myeloblastic leukemia with maturation, Acute myeloblastic leukemia without maturation, Acute myelocytic leukemia, Acute myeloid leukemia  adult, Acute myeloid leukemia  childhood, Acute myelomonocytic leukemia, Acute necrotizing ulcerative gingivitis, Acute non lymphoblastic leukemia, Acute promyelocytic leukemia, Acute respiratory distress syndrome, Acute zonal occult outer retinopathy, Acyl-CoA oxidase deficiency, Adactylia unilateral, Adams Oliver syndrome, Addison’s disease, Adducted thumb and clubfoot syndrome, Adducted thumb syndrome recessive form, Adducted thumbs Dundar type, Adenine phosphoribosyltransferase deficiency, Adenoameloblastoma, Adenocarcinoid tumor, Adenocarcinoma of lung, Adenocarcinoma of the appendix, Adenoid cystic carcinoma, Adenoma of the adrenal gland, Adenomyosis, Adenosarcoma of the uterus, Adenosine deaminase deficiency, Adenosine monophosphate deaminase 1 deficiency, Adenylosuccinase deficiency, Adie syndrome, Adiposis dolorosa, Adnexal spiradenoma/cylindroma of a sweat gland, Adrenal adenoma  familial, Adrenal cancer, Adrenal medulla cancer, Adrenocortical carcinoma, Adrenoleukodystrophy X-linked, Adrenomyeloneuropathy, Adrenomyodystrophy, Adult onset angioedema, Adult progressive spinal muscular atrophy Aran Duchenne type, ADULT syndrome, Adult-onset citrullinemia type II, Advanced sleep phase syndrome  familial, Aerobic actinomyces infection, Afibrinogenemia, Agammaglobulinemia X-linked type 2, Agammaglobulinemia  microcephaly  and severe dermatitis, Agammaglobulinemia  non-Bruton type, Aganglionosis  total intestinal, AGAT deficiency, Agenesis of the dorsal pancreas, Aggressive NK cell leukemia, Aglossia and Situs Inversus, Agnathia-microstomia-synotia, Agnosia, Agyria pachygyria polymicrogyria, Agyria-pachygyria type 1, Ahumada Del Castillo syndrome, Aicardi syndrome, Aicardi-Goutieres syndrome, Aicardi-Goutieres syndrome 5, AIDS Dementia Complex, AIDS dysmorphic syndrome, Ainhum, Akaba Hayasaka syndrome, Akesson syndrome, Aksu von Stockhausen syndrome, AL amyloidosis, Al Gazali Aziz Salem syndrome, Al Gazali Donnai Mueller syndrome, Al Gazali Hirschsprung syndrome, Al Gazali Khidr Prem Chandran syndrome, Al Gazali Sabrinathan Nair syndrome, Al Gazali syndrome, Alagille syndrome, Aland island eye disease, Alaninuria with microcephaly  dwarfism  enamel hypoplasia and diabetes mellitus, Albinism, Albinism deafness syndrome, Albinism immunodeficiency, Albinism ocular late onset sensorineural deafness, Albinism minimal pigment type, Albright like syndrome, Albright’s hereditary osteodystrophy, Aldred syndrome, Alexander disease, ALK+ histiocytosis, Alkaptonuria, Allain-Babin-Demarquez syndrome, Allan-Herndon-Dudley syndrome, Allergic angiitis, Allergic autoimmune thyroiditis, Allergic bronchopulmonary aspergillosis, Allergic encephalomyelitis, Aloi Tomasini Isaia syndrome, Alopecia congenita keratosis palmoplantaris, Alopecia contractures dwarfism mental retardation, Alopecia epilepsy oligophrenia syndrome of Moynahan, Alopecia immunodeficiency, Alopecia macular degeneration growth retardation, Alopecia mental retardation syndrome 1, Alopecia mental retardation syndrome 2, Alopecia universalis onychodystrophy vitiligo, Alopecia  epilepsy  pyorrhea  mental subnormality, Alpers syndrome, Alpha 1-antitrypsin deficiency, Alpha mannosidosis type 2, Alpha-2 deficient collagen disease, Alpha-ketoglutarate dehydrogenase deficiency, Alpha-mannosidosis type 1, Alpha-Thalassemia, Alpha-thalassemia-abnormal morphogenesis, Alport syndrome, Alport syndrome dominant type, Alport syndrome recessive type, ALS-like syndrome of encephalomyopathy, Alsing syndrome, Alstrom syndrome, Alternating hemiplegia of childhood, Aluminium lung, Alveolar capillary dysplasia, Alveolar echinococcosis, Alveolar soft part sarcoma, Alveolitis  extrinsic allergic, Alves Castelo dos Santos syndrome, Alzheimer disease familial, Alzheimer disease type 1, Alzheimer disease type 2, Alzheimer disease type 3, Alzheimer disease type 4, Alzheimer’s disease without neurofibrillary tangles, Amaurosis congenita cone-rod type with congenital hypertrichosis, Amaurosis fugax, Ambras syndrome, Amebiasis, Amelia cleft lip palate hydrocephalus iris coloboma, Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type, Amelogenesis imperfecta hypoplastic type  IG, Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1, Amelogenesis imperfecta local hypoplastic, Amelogenesis imperfecta nephrocalcinosis, Amelogenesis imperfecta pigmented hypomaturation type, Amelogenesis imperfecta  hypoplastic/hypomaturation  X-linked 2, Ameloonychohypohidrotic syndrome, Amino aciduria with mental deficiency  dwarfism  muscular dystrophy  osteoporosis and acidosis, Aminoaciduria, Aminoacylase 1 deficiency, Aminolevulinate dehydratase deficiency porphyria, Amish lethal microcephaly, Amniotic band syndrome, Ampola syndrome, Amyloid neuropathy, Amyloidosis AA, Amyloidosis Beta2M, Amyloidosis bronchopulmonary, Amyloidosis cerebral, Amyloidosis corneal, Amyloidosis familial visceral, Amyloidosis Finnish type, Amyloidosis nodular localized cutaneous, Amyloidosis of gingiva and conjunctiva with mental retardation, Amyloidosis primary cutaneous, Amyopathic dermatomyositis, Amyoplasia mandibulofacial dysostosis, Amyotonia congenita, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 2, Amyotrophic lateral sclerosis type 3, Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 5, Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 7, Amyotrophic lateral sclerosis type 8, Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, Amyotrophy  neurogenic scapuloperoneal  New England type, Anal cancer, Anal sphincter dysplasia, Anaplastic astrocytoma, Anaplastic ependymoma, Anaplastic ganglioglioma, Anaplastic large cell lymphoma, Anaplastic oligoastrocytoma, Anaplastic oligodendroglioma, Anaplastic small cell lymphoma, Anauxetic dysplasia, Ancylostomiasis, Andermann syndrome, Andersen Tawil syndrome, Androgen insensitivity syndrome, Androgen insensitivity syndrome  complete, Androgen insensitivity syndrome  mild, Androgen insensitivity syndrome  partial, Anemia due to Adenosine triphosphatase deficiency, Anemia sideroblastic and spinocerebellar ataxia, Anencephaly, Anencephaly and spina bifida X-linked, Aneurysm of sinus of Valsalva, Aneurysm  intracranial berry  2, Aneurysmal bone cysts, Angel shaped phalangoepiphyseal dysplasia, Angelman syndrome, Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia, Angioimmunoblastic lymphadenopathy with dysproteinemia, Angiokeratoma mental retardation coarse face, Angioma hereditary neurocutaneous, Angioma serpiginosum  autosomal dominant, Angioma serpiginosum  X-linked, Angiomatosis  diffuse corticomeningeal  of Divry and Van Bogaert, Angiomatosis  leptomeningeal capillary venous, Angiomatous lymphoid hamartoma, Angiomyomatous Hamartoma, Angiosarcoma of the breast, Angiosarcoma of the liver, Angiosarcoma of the scalp, Angiostrongyliasis, Aniridia, Aniridia absent patella, Aniridia ataxia renal agenesis psychomotor retardation, Aniridia mental retardation syndrome, Aniridia ptosis mental retardation obesity familial, Aniridia renal agenesis psychomotor retardation, Aniridia  cerebellar ataxia and mental deficiency, Anisakiasis, Ankle defects short stature, Ankyloblepharon filiforme adnatum cleft palate, Ankyloblepharon filiforme imperforate anus, Ankylosis of teeth, Annular constricting bands, Annular pancreas, Anodontia, Anomalous origin of right pulmonary artery familial, Anonychia congenita, Anonychia ectrodactyly, Anonychia onychodystrophy, Anonychia total with microcephaly, Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly, Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges, Anophthalmia cleft lip palate hypothalamic disorder, Anophthalmia cleft palate micrognathia, Anophthalmia esophageal atresia cryptorchidism, Anophthalmia megalocornea cardiopathy skeletal anomalies, Anophthalmia microcephaly hypogonadism, Anophthalmia or microphthalmia  retinal dystrophy and/or myopia associated with brain anomalies, Anophthalmia plus syndrome, Anophthalmos with limb anomalies, Anorchia, Anorectal atresia, Anotia facial palsy cardiac defect, Anterior pituitary insufficiency  familial, Anterior polar cataract 2, Anterior segment mesenchymal dysgenesis, Anterior spinal artery stroke, Anthrax, Anti-HLA hyperimmunization, Anti-plasmin deficiency  congenital, Antigen-peptide-transporter 2 deficiency, Antihypertensive drugs antenatal infection, Antiphospholipid syndrome, Antisocial personality disorder, Antisynthetase syndrome, Antley Bixler syndrome, Anton’s syndrome, Aorta-pulmonary artery fistula, Aortic aneurysm  familial thoracic 4, Aortic arch anomaly with peculiar facies and mental retardation, Aortic arch interruption, Aortic arches defect, Aortic coarctation, Aortic dissection lentiginosis, Aortic supravalvular stenosis, Aortic valve stenosis, Aortic valves stenosis of the child, Aortopulmonary window, Apert like polydactyly syndrome, Apert syndrome, Aphalangia partial with syndactyly and duplication of metatarsal IV, Aphthous stomatitis, Aplasia cutis autosomal recessive, Aplasia cutis congenita, Aplasia cutis congenita dominant, Aplasia cutis congenita intestinal lymphangiectasia, Aplasia cutis congenita of limbs recessive, Aplasia cutis congenita recessive, Aplasia cutis myopia, Aplastic anemia, Apo A-I deficiency, Apolipoprotein C 2I deficiency, Apparent mineralocorticoid excess, Apraxia, APUDoma, Aquagenic pruritus, Arachindonic acid  absence of, Arachnodactyly mental retardation dysmorphism, Arachnoid cysts, Arachnoiditis, Arakawa’s syndrome 2, Arbovirosis, AREDYLD, Arena syndrome, Arginase deficiency, Argininosuccinic aciduria, Arhinia choanal atresia microphthalmia, Arnold Stickler Bourne syndrome, Aromatase deficiency, Aromatic amino acid decarboxylase deficiency, Arrhinia, Arrhythmogenic right ventricular dysplasia, Arroyo Garcia Cimadevilla syndrome, Arterial calcification of infancy, Arterial tortuosity syndrome, Arthritis short stature deafness, Arthrogryposis and ectodermal dysplasia, Arthrogryposis distal type 2B, Arthrogryposis due to muscular dystrophy, Arthrogryposis epileptic seizures migrational brain disorder, Arthrogryposis IUGR thoracic dystrophy, Arthrogryposis like disorder, Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita CNS calcification, Arthrogryposis multiplex congenita distal, Arthrogryposis multiplex congenita distal type 1, Arthrogryposis multiplex congenita neurogenic type, Arthrogryposis multiplex congenita pulmonary hypoplasia, Arthrogryposis multiplex congenita whistling face, Arthrogryposis multiplex congenita  distal type 2, Arthrogryposis multiplex congenita  distal  X-linked, Arthrogryposis multiplex with deafness  inguinal hernias  and early death, Arthrogryposis ophthalmoplegia retinopathy, Arthrogryposis renal dysfunction cholestasis syndrome, Arthrogryposis spinal muscular atrophy, Arthrogryposis  distal  type 2E, Arthrogryposis  distal  with hypopituitarism  mental retardation  and facial anomalies, Arthrogryposis-like hand anomaly and sensorineural deafness, Arts syndrome, Asbestosis, Ascher’s Syndrome, Asherman’s syndrome, Aspartylglycosaminuria, Aspergillosis, Aspergillus niger infection, Asphyxia neonatorum, Asrar Facharzt Haque syndrome, Asternia, Asternia with Cardiac  Diaphragmatic  and Abdominal defects, Astley-Kendall syndrome, Astroblastoma, Ataxia telangiectasia, Ataxia telangiectasia variant V1, Ataxia with vitamin E deficiency, Atelosteogenesis type 1, Atelosteogenesis type 2, Atelosteogenesis type 3, Athabaskan brainstem dysgenesis, Athetosis, Atkin syndrome, Atlanto-Axial Fusion, ATR-X syndrome, Atransferrinemia, Atresia of small intestine, Atrial fibrillation familial, Atrial myxoma  familial, Atrial septal defect coronary sinus, Atrial septal defect ostium primum, Atrial septal defect ostium secundum, Atrial septal defect sinus venosus, Atrioventricular septal defect, Atrophoderma of Pierini and Pasini, Atrophodermia vermiculata, Attenuated FAP, Atypical lipodystrophy, Atypical mycobacteriosis  familial, Atypical Rett syndrome, Auditory neuropathy, Auditory perceptual disorder, Auralcephalosyndactyly, Auriculo-condylar syndrome, Auriculoosteodysplasia, Ausems Wittebol-Post Hennekam syndrome, Autism with port-wine stain, Autoimmune enteropathy, Autoimmune hemolytic anemia, Autoimmune hepatitis, Autoimmune Inner Ear disease, Autoimmune lymphoproliferative syndrome, Autoimmune myocarditis, Autoimmune oophoritis, Autoimmune peripheral neuropathy, Autoimmune polyglandular syndrome type 1, Autoimmune polyglandular syndrome type 2, Autoimmune progesterone dermatitis, Autosomal dominant compelling helio ophthalmic outburst syndrome, Autosomal dominant hyper IgE syndrome, Autosomal dominant partial epilepsy with auditory features, Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations, Autosomal recessive hyper IgE syndrome, Autosomal recessive nonsyndromic congenital nuclear cataract, Autosomal recessive polycystic kidney disease, Axenfeld-Rieger syndrome, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 2, Axenfeld-Rieger syndrome type 3, Axial mesodermal dysplasia spectrum, Axial osteomalacia, Axial osteosclerosis, Ayazi syndrome

Rare Diseases and Disorders – Starting With “B”

B cell prolymphocytic leukemia, B-cell lymphomas, Babesiosis, Baby rattle pelvic dysplasia, Bacterial meningitis, Baetz-Greenwalt syndrome, Bagatelle Cassidy syndrome, Baker Vinters syndrome, Balantidiasis, Balkan endemic nephropathy, Baller-Gerold syndrome, Balo disease, Balo’s concentric sclerosis, Bamforth syndrome, BANF acoustic neurinoma, Banki syndrome, Bannayan-Riley-Ruvalcaba syndrome, Banti’s syndrome, Bantu siderosis, Baraitser Brett Piesowicz syndrome, Baraitser Rodeck Garner syndrome, Barakat syndrome, Barber Say syndrome, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 9, Bare lymphocyte syndrome, Bare lymphocyte syndrome 2, Baritosis, Barnicoat Baraitser syndrome, Baroreflex failure, Barraquer-Simons syndrome, Barre Lieou syndrome, Barth syndrome, Bartter syndrome antenatal type 1, Bartter syndrome antenatal type 2, Bartter syndrome type 3, Bartter syndrome type 4, Bartter’s syndrome, Basal cell carcinoma  infundibulocystic, Basal cell carcinoma  multiple, Basal cell nevus anodontia abnormal bone mineralization, Basal ganglia disease  biotin-responsive, Basaloid follicular hamartoma, Basan syndrome, Basaran Yilmaz syndrome, Basedow’s coma, Basilar impression primary, Basilar migraine, Bassoe syndrome, Battaglia Neri syndrome, Bazex-Dupre-Christol syndrome, Bazopoulou Kyrkanidou syndrome, Bd syndrome, Beardwell syndrome, Becker muscular dystrophy, Becker nevus syndrome, Becker’s nevus, Beckwith-Wiedemann syndrome, Bednar’s tumor, Beemer Ertbruggen syndrome, Behcet’s disease, Behr syndrome, Behrens Baumann Dust syndrome, Bejel, Bell’s palsy, Bellini Chiumello Rimoldi syndrome, Ben Ari Shuper Mimouni syndrome, Benallegue Lacete syndrome, Benign angiitis of the central nervous system, Benign autosomal dominant myopathy, Benign eccrine spiradenoma, Benign essential tremor syndrome, Benign familial infantile epilepsy, Benign familial neonatal-infantile seizures, Benign hyperphenylalaninemia, Benign metastasizing leiomyoma, Benign multicystic peritoneal mesothelioma, Benign paroxysmal positional vertigo, Benign recurrent intrahepatic cholestasis 1, Benign recurrent intrahepatic cholestasis 2, Benign rolandic epilepsy (BRE), Berger disease, Beriberi, Berk-Tabatznik syndrome, Berry aneurysm  cirrhosis  pulmonary emphysema  and cerebral calcification, Berylliosis, Best vitelliform macular dystrophy, Best1 retinopathy, Beta ketothiolase deficiency, Beta-galactosidase-1 deficiency, Beta-sarcoglycanopathy, Beta-thalassemia, Bethlem myopathy, Beukes familial hip dysplasia, Bhaskar Jagannathan syndrome, Bidirectional tachycardia, Biemond syndrome, Biemond syndrome 2, Biemond syndrome type 1, Biermer disease, Bietti crystalline corneoretinal dystrophy, Bifid nose, Bifid nose with or without anorectal and renal anomalies, Bilateral frontal polymicrogyria, Bilateral frontoparietal polymicrogyria, Bilateral generalized polymicrogyria, Bilateral parasagittal parieto-occipital polymicrogyria, Bilateral perisylvian polymicrogyria, Bilateral renal agenesis dominant type, Bile acid synthesis defect congenital 1, Bile acid synthesis defect congenital 2, Bile acid synthesis defect congenital 4, Bile duct cancer, Bile duct cysts, Biliary atresia extrahepatic, Biliary atresia intrahepatic non syndromic form, Biliary atresia intrahepatic syndromic form, Biliary hypoplasia, Biliary tract cancer, Bilirubin induced brain injury in the newborn, Billet Bear syndrome, Binswanger’s disease, Biotinidase deficiency, Bird headed dwarfism Montreal type, Bird-headed dwarfism with progressive ataxia  insulin-resistant diabetes  goiter and primary gonadal insufficiency, Birdshot chorioretinopathy, Birk Barel mental retardation dysmorphism syndrome, Birt-Hogg-Dube syndrome, Bixler Christian Gorlin syndrome, Bjornstad syndrome, BK-virus nephropathy, Bladder cancer  childhood, Blaichman syndrome, Blastic plasmacytoid dendritic cell, Blastoma, Blastomycosis, Blau syndrome, Blepharo naso facial syndrome Van maldergem type, Blepharofacioskeletal syndrome, Blepharophimosis, Blepharophimosis syndrome Ohdo type, Blepharophimosis with ptosis  syndactyly  and short stature, Blepharophimosis  ptosis  and epicanthus inversus syndrome type 1, Blepharophimosis  ptosis  and epicanthus inversus syndrome type 2, Blepharoptosis myopia ectopia lentis, Blepharospasm, Bloom syndrome, Blount disease, Blue cone monochromatism, Blue diaper syndrome, Blue rubber bleb nevus, Bobble-head doll syndrome, BOD syndrome, Boerhaave syndrome, Bone cancer, Bone dysplasia Azouz type, Bone dysplasia corpus callosum agenesis, Bone dysplasia lethal Holmgren type, Bone dysplasia Moore type, Bone fragility craniosynostosis proptosis hydrocephalus, Book syndrome, Boomerang dysplasia, BOR-Duane hydrocephalus contiguous gene syndrome, Borjeson-Forssman-Lehmann syndrome, Bork Stender Schmidt syndrome, Borrone Di Rocco Crovato syndrome, Bothriocephalosis, Botulism, Boucher Neuhauser syndrome, Boudhina Yedes Khiari syndrome, Bourneville syndrome, Bowen syndrome, Bowen’s disease, Bowen-Conradi syndrome, Bowenoid papulosis, Bowing congenital short bones, Bowing of legs  anterior with dwarfism, Bowing of long bones congenital, Boylan Dew Greco syndrome, Brachial amelia  forebrain defects and facial clefts, Brachioskeletogenital syndrome, Brachycephalofrontonasal dysplasia, Brachydactylous dwarfism Mseleni type, Brachydactyly absence of distal phalanges, Brachydactyly anonychia, Brachydactyly dwarfism mental retardation, Brachydactyly elbow wrist dysplasia, Brachydactyly long thumb type, Brachydactyly mesomelia mental retardation heart defects, Brachydactyly Mononen type, Brachydactyly preaxial with hallux varus and thumb abduction, Brachydactyly scoliosis carpal fusion, Brachydactyly small stature face anomalies, Brachydactyly tibial hypoplasia, Brachydactyly type A1, Brachydactyly type A2, Brachydactyly type A3, Brachydactyly type A4, Brachydactyly type A5, Brachydactyly type A6, Brachydactyly type A7, Brachydactyly type B, Brachydactyly type C, Brachydactyly type E, Brachydactyly types B and E combined, Brachydactyly with hypertension, Brachymesomelia renal syndrome, Brachymesophalangy type 2, Brachymetapody anodontia hypotrichosis albinoidism, Brachyolmia type 1 Hobaek type, Brachyolmia type 3, Brachyphalangy  polydactyly  and tibial aplasia/hypoplasia, Braddock Jones Superneau syndrome, Brain stem cancer, Brain stem glioma  childhood, Brain tumor  adult, Brain tumor  childhood, Branchial arch defects, Branchial arch syndrome X-linked, Branchiooculofacial syndrome, Branchiootic syndrome, Branchiootorenal syndrome, Breast cancer childhood, Breast cancer male, Brenner tumor of ovary, Brenner tumor of the vagina, Brittle bone syndrome lethal type, Brittle cornea syndrome, Broad-betalipoproteinemia, Brody myopathy, Bronchial adenomas/carcinoids childhood, Bronchiectasis oligospermia, Bronchiolitis obliterans, Bronchiolitis obliterans organizing pneumonia, Bronchogenic cyst, Bronchopulmonary dysplasia, Brooks Wisniewski Brown syndrome, Brown syndrome, Brown-Sequard syndrome, Brown-Vialetto-Van laere syndrome, Brucellosis, Bruck syndrome 1, Bruck syndrome 2, Brugada syndrome, Brugada syndrome 3, Brugada syndrome 4, Brunoni syndrome, Brunsting-Perry syndrome, Bruyn Scheltens syndrome, Bubonic plague, Budd-Chiari syndrome, Buerger disease, Bulbo-spinal atrophy X-linked, Bulbospinal amyotrophy  X-linked, Bullous dystrophy hereditary macular type, Bullous erythroderma ichthyosiformis congenita of Brocq, Bullous pemphigoid, Burkitt’s lymphoma, Burn Goodship syndrome, Burn-Mckeown syndrome, Burnett Schwartz Berberian syndrome, Burning mouth syndrome type 3, Buruli ulcer, Buschke Lowenstein tumor, Buschke Ollendorff syndrome, Bustos Simosa Pinto Cisternas syndrome, Butyrylcholinesterase deficiency, Byssinosis, C syndrome

Rare Diseases and Disorders – Starting With “C”

C-like syndrome, CADASIL, Cafe au lait spots  multiple, Caffey disease, CAHMR syndrome, Calabro syndrome, Calcifying Epithelial Odontogenic Tumor, Calciphylaxis, California encephalitis, Calloso-genital dysplasia, Calvarial hyperostosis, Camera Marugo Cohen syndrome, Campomelia Cumming type, Campomelic dysplasia, Camptobrachydactyly, Camptocormism, Camptodactyly arthropathy coxa vara pericarditis syndrome, Camptodactyly joint contractures and facial skeletal dysplasia, Camptodactyly syndrome Guadalajara type 1, Camptodactyly syndrome Guadalajara type 2, Camptodactyly syndrome Guadalajara type 3, Camptodactyly taurinuria, Camptodactyly vertebral fusion, Camptodactyly  fibrous tissue hyperplasia  and skeletal dysplasia, Camptodactyly  tall stature  and hearing loss syndrome, Camptodactyly-ichthyosis syndrome, Camptomelic syndrome long limb type, Camurati Engelmann disease  type 2, Camurati-Engelmann disease, Canavan disease, Candida glabrata, Candidiasis familial chronic mucocutaneous  autosomal recessive, CANOMAD syndrome, Cantalamessa Baldini Ambrosi syndrome, Cantu Sanchez-Corona Fragoso syndrome, Cantu Sanchez-Corona Garcia-Cruz syndrome, Cantu Sanchez-Corona Hernandez syndrome, Capillary hemangioblastoma, Carbamoyl phosphate synthetase 1 deficiency, Carbon baby syndrome, Carcinoid syndrome, Carcinoid tumor, Carcinoid tumor childhood, Carcinoma of the vocal tract, Carcinoma of unknown primary site childhood, Cardiac diverticulum, Cardiac hydatid cysts with intracavitary expansion, Cardiac rupture, Cardiac valvular dysplasia  X-linked, Cardioauditory syndrome of Sanchez Cascos, Cardiocranial syndrome, Cardioencephalomyopathy, Cardiofacial syndrome short limbs, Cardiofaciocutaneous syndrome, Cardiogenital syndrome, Cardiomelic syndrome Stratton Koehler type, Cardiomyopathy and deafness due to tRNA lysine gene mutation, Cardiomyopathy cataract hip spine disease, Cardiomyopathy diabetes deafness, Cardiomyopathy dilated with conduction defect type 1, Cardiomyopathy dilated with conduction defect type 2, Cardiomyopathy dilated with woolly hair and keratoderma, Cardiomyopathy due to anthracyclines, Cardiomyopathy hypogonadism collagenoma syndrome, Cardiomyopathy hypogonadism metabolic anomalies, Cardiomyopathy spherocytosis, Cardiomyopathy fatal fetal due to myocardial calcification, Cardioskeletal syndrome Kuwaiti type, Cardiospasm, Carnevale Hernandez Castillo syndrome, Carnevale syndrome, Carney complex, Carnitine palmitoyl transferase 1 deficiency, Carnitine palmitoyl transferase 2 deficiency, Carnitine palmitoyltransferase I deficiency muscle, Carnitine transporter deficiency, Carnitine-acylcarnitine translocase deficiency, Carnosinemia, Caroli disease, Carotid body tumor, Carpal deformity migrognathia microstomia, Carpenter syndrome, Carpo tarsal osteolysis recessive, Carpotarsal osteochondromatosis, Carrington syndrome, Cartilage-hair hypoplasia, Cartilaginous cancer, Cartwright Nelson Fryns syndrome, Caspase-8 deficiency, Cassavism, Castleman’s disease, Castro Gago Pombo Novo syndrome, Cat Eye syndrome, Cat scratch disease, Catamenial pneumothorax, Cataract and cardiomyopathy, Cataract and congenital ichthyosis, Cataract anterior polar dominant, Cataract ataxia deafness, Cataract congenital autosomal dominant, Cataract congenital dominant non nuclear, Cataract congenital Volkmann type, Cataract Hutterite type, Cataract hypertrichosis mental retardation, Cataract mental retardation hypogonadism, Cataract microcornea syndrome, Cataract microphthalmia septal defect, Cataract skeletal anomalies, Cataract alopecia sclerodactyly, Cataract  autosomal recessive congenital 2, Cataract congenital  with microcornea or slight microphthalmia, Cataract congenital  with microphthalmia, Cataract microphthalmia and nystagmus, Cataract posterior polar 1, Cataract posterior polar 3, Cataract posterior polar 4, Cataract posterior polar 5, Cataract total congenital, Cataract zonular, Cataract-glaucoma, Cataract-microcephaly failure to thrive kyphoscoliosis, Cataracts ataxia short stature and mental retardation, Catastrophic antiphospholipid syndrome, Catatrichy, Catel Manzke syndrome, Caudal appendage deafness, Caudal duplication, Caudal regression syndrome, Cavernous lymphangioma, Cayler cardiofacial syndrome, Ccge syndrome, CD3 deficiency, CD4 deficiency, CDG syndrome type 3, CDG syndrome type 4, CDK4 linked melanoma, Cennamo Gangemi syndrome, Central centrifugal cicatricial alopecia, Central core disease, Central nervous system lymphoma  primary, Central neurocytoma, Central post-stroke pain, Central serous chorioretinopathy, Cercarial Dermatitis, Cerebellar agenesis, Cerebellar astrocytoma  childhood, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebellar ataxia ectodermal dysplasia, Cerebellar ataxia infantile with progressive external ophthalmoplegia, Cerebellar ataxia areflexia pes cavus optic atrophy and sensorinural hearing loss, Cerebellar degeneration, Cerebellar degeneration subacute, Cerebellar hypoplasia, Cerebellar hypoplasia tapetoretinal degeneration, Cerebellar hypoplasia with endosteal sclerosis, Cerebellar liponeurocytoma, Cerebello-olivary atrophy, Cerebelloparenchymal disorder 3, Cerebellum agenesis hydrocephaly, Cerebral astrocytoma childhood, Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral calcification cerebellar hypoplasia, Cerebral calcifications opalescent teeth phosphaturia, Cerebral cavernous malformation, Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome, Cerebral folate deficiency, Cerebral gigantism jaw cysts, Cerebral palsy ataxic, Cerebral palsy athetoid, Cerebral palsy mixed, Cerebral palsy spastic diplegic, Cerebral palsy spastic hemiplegic, Cerebral palsy spastic monoplegic, Cerebral palsy spastic quadriplegic, Cerebral sarcoma, Cerebral sclerosis similar to Pelizaeus-Merzbacher disease, Cerebral ventricle cancer, Cerebro facio thoracic dysplasia, Cerebro-costo-mandibular syndrome, Cerebro-oculo-facio-skeletal syndrome, Cerebrocostomandibular-like syndrome, Cerebrospinal fluid leak, Cerebrotendinous xanthomatosis, Ceroid lipofuscinosis neuronal 1, Ceroid lipofuscinosis neuronal 10, Ceroid lipofuscinosis neuronal 2, Ceroid lipofuscinosis neuronal 3, Ceroid lipofuscinosis neuronal 4A autosomal recessive, Ceroid lipofuscinosis neuronal 4B autosomal dominant, Ceroid lipofuscinosis neuronal 5, Ceroid lipofuscinosis neuronal 6, Ceroid lipofuscinosis neuronal 7, Ceroid lipofuscinosis neuronal 8, Ceroid lipofuscinosis neuronal 9, Ceroid storage disease, Cerulean cataract, Cervical dystonia, Cervical hypertrichosis peripheral neuropathy, Cervical intraepithelial neoplasia, Cervical ribs Sprengel anomaly  anal atresia  and urethral obstruction, Chagas disease, Chanarin-Dorfman syndrome, Chancroid, Chandler’s syndrome, CHANDS, Chang Davidson Carlson syndrome, Chaotic atrial tachycardia, Char syndrome, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease deafness recessive type, Charcot-Marie-Tooth disease dominant intermediate 1, Charcot-Marie-Tooth disease dominant intermediate 2, Charcot-Marie-Tooth disease dominant intermediate 3, Charcot-Marie-Tooth disease neuronal type A, Charcot-Marie-Tooth disease neuronal type B, Charcot-Marie-Tooth disease neuronal type D, Charcot-Marie-Tooth disease type 1A, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2A, Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2C, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2F, Charcot-Marie-Tooth disease type 2G, Charcot-Marie-Tooth disease type 2H, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease with ptosis and parkinsonism, Charcot-Marie-Tooth disease with pyramidal features  autosomal dominant, Charcot-Marie-Tooth disease X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 2, Charcot-Marie-Tooth disease X-linked recessive 3, Charcot-Marie-Tooth type 1 aplasia cutis congenita, CHARGE syndrome, Charles Bonnet syndrome, Charlie M syndrome, Chediak-Higashi syndrome, Cheilitis glandularis, Chemke Oliver Mallek syndrome, Cherubism, Chester porphyria, Chiari malformation type 2, Chiari malformation type 3, Chiari malformation type 4, Chiari-Frommel syndrome, Chikungunya, Chilaiditi syndrome, CHILD syndrome, Childhood disintegrative disorder, Childhood-onset cerebral X-linked adrenoleukodystrophy, Childhood-Onset Schizophrenia, Children’s interstitial lung disease, Chitayat Meunier Hodgkinson syndrome, Chitty Hall Baraitser syndrome, Chitty Hall Webb syndrome, Cholecystitis, Cholemia  familial, Cholera, Cholestasis  intrahepatic of pregnancy, Cholestasis  progressive familial intrahepatic 1, Cholestasis  progressive familial intrahepatic 2, Cholestasis  progressive familial intrahepatic 3, Cholestasis  progressive familial intrahepatic 4, Cholestatic jaundice renal tubular insufficiency, Cholesteatoma, Cholesterol pneumonia, Chondroblastoma, Chondrocalcinosis 1, Chondrocalcinosis 2, Chondrocalcinosis due to apatite crystal deposition, Chondrodysplasia, Chondrodysplasia acromesomelic with genital anomalies, Chondrodysplasia Blomstrand type, Chondrodysplasia calcificans metaphysealis, Chondrodysplasia lethal recessive, Chondrodysplasia punctata 1  X-linked recessive, Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata Sheffield type, Chondrodysplasia punctata syndrome, Chondrodysplasia punctata with steroid sulfatase deficiency, Chondrodysplasia punctata  humero-metacarpal type, Chondrodysplasia situs inversus imperforate anus polydactyly, Chondrodysplasia  Grebe type, Chondrodystrophy, Chondroma, Chondrosarcoma, Chordoid glioma of the third ventricle, Chordoma, Chorea familial benign, Chorea minor, Chorea  remitting with nystagmus and cataracts, Choreoacanthocytosis, Choreoacanthocytosis amyotrophic, Choriocarcinoma, Chorioretinal atrophy  progressive bifocal, Chorioretinitis, Chorioretinopathy dominant form microcephaly, Choroid plexus calcification with mental retardation, Choroid plexus carcinoma, Choroid plexus cyst, Choroid plexus papilloma, Choroidal dystrophy central areolar, Choroideremia, Choroideremia hypopituitarism, Choroiditis, Christian Demyer Franken syndrome, Christian Johnson Angenieta syndrome, Christianson syndrome, Chromhidrosis, Chromomycosis, Chromophil renal cell carcinoma, Chromophobe renal cell carcinoma, Chromosomal triplication, Chromosome 1 monosomy 1p, Chromosome 1 monosomy 1q4, Chromosome 1  ring, Chromosome 1 uniparental disomy 1q12 q21, Chromosome 10  monosomy 10p, Chromosome 10  monosomy 10q, Chromosome 10 ring, Chromosome 10 trisomy 10p, Chromosome 10  uniparental disomy, Chromosome 10q partial trisomy, Chromosome 11 deletion 11p, Chromosome 11q partial deletion, Chromosome 11q trisomy, Chromosome 12 ring, Chromosome 12  12p trisomy, Chromosome 12 trisomy 12q, Chromosome 12p deletion, Chromosome 13 ring, Chromosome 13p duplication, Chromosome 13q deletion, Chromosome 13q trisomy, Chromosome 13q-mosaicism, Chromosome 14 ring, Chromosome 14 mosaic trisomy, Chromosome 14q partial deletions, Chromosome 14q proximal duplication, Chromosome 14q  terminal deletion, Chromosome 15 ring, Chromosome 15  trisomy mosaicism, Chromosome 15q  partial deletion, Chromosome 15q  tetrasomy, Chromosome 15q  trisomy, Chromosome 16  trisomy, Chromosome 16  trisomy 16p, Chromosome 16  uniparental disomy, Chromosome 16p13.3 deletion syndrome, Chromosome 16p13.3 duplication, Chromosome 16q  trisomy, Chromosome 17 ring, Chromosome 17  deletion, Chromosome 17  trisomy 17p, Chromosome 17 trisomy 17q22, Chromosome 18 mosaic monosomy, Chromosome 18 ring, Chromosome 18 tetrasomy 18p, Chromosome 18 trisomy 18p, Chromosome 18  trisomy 18q, Chromosome 18p deletion syndrome, Chromosome 18q deletion syndrome, Chromosome 19  ring, Chromosome 19 trisomy 19q, Chromosome 19q13.11 deletion syndrome, Chromosome 1p36 deletion syndrome, Chromosome 1q deletion, Chromosome 1q21.1 duplication syndrome, Chromosome 2  duplication(2)(p13)(p21), Chromosome 2  monosomy 2q, Chromosome 2  monosomy 2q24, Chromosome 2  trisomy 2p, Chromosome 2  trisomy 2q, Chromosome 20 ring, Chromosome 20  deletion 20p, Chromosome 20  duplication 20p, Chromosome 20  trisomy, Chromosome 21 monosomy, Chromosome 21 ring, Chromosome 21  tetrasomy 21q, Chromosome 21  uniparental disomy, Chromosome 22 mosaic monosomy, Chromosome 22 ring, Chromosome 22 trisomy mosaic, Chromosome 22  trisomy, Chromosome 22q deletion, Chromosome 3 duplication syndrome, Chromosome 3  monosomy 3p, Chromosome 3 trisomy 3p, Chromosome 3 trisomy 3q, Chromosome 3q29 microduplication syndrome, Chromosome 4 ring syndrome, Chromosome 4 short arm deletion, Chromosome 4  monosomy 4q, Chromosome 4  Trisomy 4p, Chromosome 4 trisomy 4q, Chromosome 5  trisomy 5p, Chromosome 5  trisomy 5q, Chromosome 5  uniparental disomy, Chromosome 6 ring syndrome, Chromosome 6 monosomy 6q, Chromosome 6 monosomy 6q2, Chromosome 6  trisomy 6p, Chromosome 6 trisomy 6q, Chromosome 7 ring syndrome, Chromosome 7 monosomy, Chromosome 7 partial monosomy 7p, Chromosome 7 trisomy 7p, Chromosome 7 trisomy 7q, Chromosome 7 trisomy mosaic, Chromosome 8 ring, Chromosome 8  monosomy 8p, Chromosome 8  monosomy 8p23 1, Chromosome 8  monosomy 8q, Chromosome 8  trisomy 8p, Chromosome 8  trisomy 8q, Chromosome 9 Ring, Chromosome 9  monosomy 9p, Chromosome 9  tetrasomy 9p, Chromosome 9 trisomy 9q, Chromosome 9p trisomy, Chronic active Epstein-Barr virus infection, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, Chronic berylliosis, Chronic demyelinizing neuropathy with IgM monoclonal, Chronic erosive gastritis, Chronic granulomatous disease, Chronic Infantile Neurological Cutaneous Articular syndrome, Chronic inflammatory demyelinating polyneuropathy, Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, Chronic lymphocytic leukemia, Chronic myeloid leukemia, Chronic myelomonocytic leukemia, Chronic myeloproliferative disorders, Chronic neutrophilic leukemia, Chronic polyradiculoneuritis, Chronic progressive external ophthalmoplegia, Chronic recurrent multifocal osteomyelitis, Chudley Rozdilsky syndrome, Chudley-Mccullough syndrome, Churg Strauss syndrome, Chylomicron retention disease, Chylothorax congenital, Chylous ascites, Cicatricial pemphigoid, Ciguatera fish poisoning, Ciliary discoordination  due to random ciliary orientation, Ciliary dyskinesia with excessively long cilia, Ciliary dyskinesia  due to transposition of ciliary microtubules, Ciliary dyskinesia-bronchiectasis, Cilliers Beighton syndrome, Circumscribed cutaneous aplasia of the vertex, Circumscribed disseminated keratosis Jadassohn Lew type, Citrulline transport defect, Citrullinemia type I, Clark-Baraitser syndrome, Clasped thumbs  congenital, Classic Kaposi sarcoma, Clayton-Smith Donnai syndrome, Clear cell renal cell carcinoma, Cleft hand absent tibia, Cleft lip and palate malrotation cardiopathy, Cleft lip and/or palate with mucous cysts of lower, Cleft lip palate abnormal thumbs microcephaly, Cleft lip palate dysmorphism Kumar type, Cleft lip palate mental retardation corneal opacity, Cleft lip palate oligodontia syndactyly pili torti, Cleft lip palate pituitary deficiency, Cleft lip palate-tetraphocomelia, Cleft lower lip cleft lateral canthi chorioretinal, Cleft palate cardiac defect ectrodactyly, Cleft palate colobomata radial synostosis deafness, Cleft palate heart disease polydactyly absent tibia, Cleft palate lateral synechia syndrome, Cleft palate short stature vertebral anomalies, Cleft palate stapes fixation oligodontia, Cleft palate X-linked, Cleft palate midfacial hypoplasia triangular facies and sensorineural hearing loss, Cleft tongue syndrome, Cleft upper lip median cutaneous polyps, Cleidocranial dysplasia, Cleidocranial dysplasia recessive form, Cleidorhizomelic syndrome, Cloacal exstrophy, Clostridium difficile, Clostridium sordellii, Cluster headache, Cluttering, CMV antenatal infection, COACH syndrome, Coal worker’s pneumoconiosis, Coarctation of aorta dominant, Coarse face hypotonia constipation, Coats disease, Cocaine antenatal infection, Coccidioidomycosis, Coccygodynia, Cochleosaccular degeneration of the inner ear and progressive cataracts, Cockayne syndrome, Cockayne syndrome type I, Cockayne syndrome type II, Cockayne syndrome type III, CODAS syndrome, Coenzyme Q cytochrome c reductase deficiency, Coenzyme Q10 deficiency, Coffin syndrome 1, Coffin-Lowry syndrome, Coffin-Siris syndrome, Cogan’s syndrome, Cogan-Reese syndrome, Cohen Hayden syndrome, Cohen Lockood Wyborney syndrome, Cohen syndrome, Cold agglutinin disease, Cold contact urticaria, Cole Carpenter syndrome, Collagenopathy type 2 alpha 1, Collagenous colitis, Collecting duct carcinoma, Collins Pope syndrome, Collins Sakati syndrome, Colloid cysts of third ventricle, Coloboma chorioretinal cerebellar vermis aplasia, Coloboma hair abnormality, Coloboma of alar-nasal cartilages with telecanthus, Coloboma of choroid and retina, Coloboma of eye lens, Coloboma of iris, Coloboma of lens ala nasi, Coloboma of macula, Coloboma of macula with type B brachydactyly, Coloboma of optic nerve, Coloboma of optic papilla, Coloboma porencephaly hydronephrosis, Coloboma  cleft lip/palate and mental retardation syndrome, Colobomata unilobar lung heart defect, Colobomatous microphthalmia heart disease hearing, Colonic atresia, Colonic malakoplakia, Colorectal cancer  childhood, Colpocephaly, Colver Steer Godman syndrome, Combarros Calleja Leno syndrome, Combined malonic and methylmalonic aciduria, Common variable immunodeficiency, Compartment syndrome, Complement component 2 deficiency, Complement component 8 deficiency type 1, Complement component 8 deficiency type 2, Complement component deficiency, Complement component receptor 1, Complement receptor deficiency, Complete atrioventricular canal, Conductive deafness malformed external ear, Cone dystrophy X-linked with tapetal-like sheen, Cone-rod dystrophy, Cone-rod dystrophy 1, Cone-rod dystrophy 2, Cone-rod dystrophy 3, Cone-rod dystrophy 5, Cone-rod dystrophy 6, Cone-rod dystrophy amelogenesis imperfecta, Cone-rod dystrophy X-linked 1, Cone-rod dystrophy X-linked 2, Cone-rod dystrophy X-linked 3, Congenital absence of the sternocleidomastoid muscle, Congenital adrenal hyperplasia, Congenital alopecia X-linked, Congenital amegakaryocytic thrombocytopenia, Congenital amputation, Congenital aneurysms of the great vessels, Congenital anosmia, Congenital antithrombin deficiency, Congenital antithrombin deficiency type 2, Congenital antithrombin deficiency type 3, Congenital aplastic anemia, Congenital arteriovenous shunt, Congenital articular rigidity, Congenital benign spinal muscular atrophy dominant, Congenital bilateral absence of the vas deferens, Congenital bronchobiliary fistula, Congenital cardiovascular shunt, Congenital central hypoventilation syndrome, Congenital chloride diarrhea, Congenital contractural arachnodactyly, Congenital contractures, Congenital craniosynostosis maternal hyperthyroiditis, Congenital cystic eye, Congenital cystic eye multiple ocular and intracranial anomalies, Congenital cytomegalovirus, Congenital diaphragmatic hernia, Congenital dislocation of the patella, Congenital disorder of glycosylation type 1A, Congenital disorder of glycosylation type 1B, Congenital disorder of glycosylation type 1C, Congenital disorder of glycosylation type 1D, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1F, Congenital disorder of glycosylation type 1G, Congenital disorder of glycosylation type 1H, Congenital disorder of glycosylation type 1I, Congenital disorder of glycosylation type 1J, Congenital disorder of glycosylation type 1K, Congenital disorder of glycosylation type 1L, Congenital disorder of glycosylation type 2A, Congenital disorder of glycosylation type 2B, Congenital disorder of glycosylation type 2C, Congenital disorder of glycosylation type 2D, Congenital disorder of glycosylation type 2E, Congenital disorder of glycosylation type 2G, Congenital disorder of glycosylation type I/IIX, Congenital disorders of glycosylation, Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia type 1, Congenital dyserythropoietic anemia type 2, Congenital dyserythropoietic anemia type 3, Congenital ectodermal dysplasia with hearing loss, Congenital fiber type disproportion, Congenital generalized fibromatosis, Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 2, Congenital giant megaureter, Congenital heart block, Congenital heart disease ptosis hypodontia craniostosis, Congenital heart disease radio ulnar synostosis mental retardation, Congenital hemolytic anemia, Congenital hepatic fibrosis, Congenital herpes simplex, Congenital human immunodeficiency virus, Congenital hypomyelination neuropathy, Congenital hypothyroidism, Congenital hypotrichosis milia, Congenital ichthyosis  microcephalus  quadriplegia, Congenital ichtyosiform erythroderma, Congenital lipoid adrenal hyperplasia, Congenital megalo-ureter, Congenital mesoblastic nephroma, Congenital mitral malformation, Congenital mitral stenosis, Congenital mixovirus, Congenital mumps, Congenital Muscular dystrophy, Congenital muscular dystrophy syringomyelia, Congenital myasthenic syndrome with episodic apnea, Congenital myotonic dystrophy, Congenital nephrotic syndrome Finnish type, Congenital nonhemolytic jaundice, Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital porphyria, Congenital primary aphakia, Congenital pseudoarthrosis, Congenital pulmonary alveolar proteinosis, Congenital pulmonary lymphangiectasia, Congenital short femur, Congenital stenosis of cervical medullary canal, Congenital sucrase-isomaltase deficiency, Congenital sucrose isomaltose malabsorption, Congenital torticollis, Congenital tracheomalacia, Congenital unilateral pulmonary hypoplasia, Congenital vagal hyperreflexivity, Congenital varicella syndrome, Congenitally corrected transposition of the great arteries, Conjunctival melanoma, Conjunctivitis ligneous, Conjunctivitis with Pseudomembrane, Conn’s syndrome, Connective tissue dysplasia Spellacy type, Conotruncal anomaly face syndrome, Conotruncal heart malformations, Continuous muscle fiber activity hereditary, Continuous spike-wave during slow sleep syndrome, Contractures ectodermal dysplasia cleft lip palate, Conversion disorder, Convulsions benign familial neonatal dominant form, Convulsions  benign familial infantile  1, Copper deficiency  familial benign, CoQ-responsive OXPHOS deficiency, Cor biloculare, Cor triatriatum, Cormier Rustin Munnich syndrome, Cornea guttata with anterior polar cataract, Corneal anesthesia deafness mental retardation, Corneal crystals myopathy neuropathy, Corneal dystrophy and perceptive deafness, Corneal dystrophy Avellino type, Corneal dystrophy crystalline of Schnyder, Corneal dystrophy Fuchs endothelial 1, Corneal dystrophy ichthyosis microcephaly mental retardation, Corneal dystrophy of Bowman layer type 1, Corneal dystrophy pigmentary anomaly malabsorption, Corneal dystrophy Thiel Behnke type, Corneal dystrophy lattice  ype 2, Corneal endothelial dystrophy type 2, Corneal hypesthesia familial, Cornelia de Lange syndrome, Corneodermatoosseous syndrome, Coronal synostosis  syndactyly and jejunal atresia, Coronaro-cardiac fistula, Coronary arteries congenital malformation, Coronary artery aneurysm, Corpus callosum agenesis, Corpus callosum agenesis double urinary collecting, Corpus callosum agenesis of blepharophimosis Robin type, Corpus callosum agenesis polysyndactyly, Corpus callosum dysgenesis cleft spasm, Corpus callosum dysgenesis hypopituitarism, Corpus callosum dysgenesis X-linked recessive, Corsello Opitz syndrome, Cortada Koussef Matsumoto syndrome, Cortes Lacassie syndrome, Cortical blindness mental retardation polydactyly, Cortical defects wormian bones and dentinogenesis imperfecta, Cortical hyperostosis syndactyly, Corticobasal degeneration, Cortisone reductase deficiency, Costello syndrome, Costocoracoid ligament congenitally short, Cote Katsantoni syndrome, Cough headache, Cousin syndrome, Cowchock syndrome, Cowden’s disease, Coxa vara  congenital, Coxoauricular syndrome, Cramp-fasciculations syndrome, Crandall syndrome, Crane-Heise syndrome, Cranio osteoarthropathy, Cranioacrofacial syndrome, Craniodiaphyseal dysplasia, Craniodigital syndrome mental retardation, Cranioectodermal dysplasia, Craniofacial and skeletal defects, Craniofacial deafness hand syndrome, Craniofacial dysostosis arthrogryposis progeroid appearence, Craniofacial dysostosis with diaphyseal hyperplasia, Craniofacial dyssynostosis, Craniofacial dystonia, Craniofacial malformations  asymmetric  with polysyndactyly and abnormal skin and gut development, Craniofaciocardioskeletal syndrome, Craniofaciocervical osteoglyphic dysplasia, Craniofrontonasal dysplasia, Craniofrontonasal syndrome Teebi type, Craniometaphyseal dysplasia  autosomal dominant, Craniometaphyseal dysplasia  autosomal recessive type, Craniomicromelic syndrome, Craniopharyngioma, Craniorachischisis, Craniostenosis cataract, Craniostenosis with congenital heart disease mental retardation, Craniosynostosis, Craniosynostosis alopecia brain defect, Craniosynostosis arthrogryposis cleft palate, Craniosynostosis autosomal dominant, Craniosynostosis cleft lip palate arthrogryposis, Craniosynostosis contractures cleft, Craniosynostosis exostoses nevus epibulbar dermoid, Craniosynostosis Fontaine type, Craniosynostosis Maroteaux Fonfria type, Craniosynostosis mental retardation clefting syndrome, Craniosynostosis mental retardation heart defects, Craniosynostosis Philadelphia type, Craniosynostosis anal anomalies  and porokeratosis, Craniosynostosis-mental retardation syndrome of Lin and Gettig, Craniotelencephalic dysplasia, Crawfurd syndrome, Creatine deficiency  X-linked, Creeping myiasis, CREST syndrome, Cretinism athyreotic, Creutzfeldt-Jakob disease, Cri du chat syndrome, Crigler Najjar syndrome  type 1, Crigler Najjar syndrome  type 2, Crisponi syndrome, Crohn’s disease of the esophagus, Crome syndrome, Cronkhite-Canada disease, Crossed polydactyly type 1, Crossed polysyndactyly, Crouzon syndrome, Crumpled helices and small mouth, Cryofibrinogenemia, Cryoglobulinemia, Cryoglobulinemia  familial mixed, Cryptococcosis, Cryptogenic Organizing Pneumonia, Cryptomicrotia brachydactyly syndrome, Cryptophthalmos, Cryptorchidism arachnodactyly mental retardation, Cryptosporidiosis, Curly hair ankyloblepharon nail dysplasia syndrome, Curly hair-acral keratoderma-caries syndrome, Currarino triad, Cushing syndrome familial, Cushing’s symphalangism, Cushing’s syndrome, Cutaneous anthrax, Cutaneous larva migrans, Cutaneous lupus erythematosus, Cutaneous mastocytosis, Cutaneous necrotizing vasculitis, Cutaneous photosensitivity and colitis  lethal, Cutaneous polyarteritis nodosa, Cutaneous sclerosis, Cutaneous T-cell lymphoma, Cutis Gyrata syndrome of Beare and Stevenson, Cutis gyratum acanthosis nigricans craniosynostosis, Cutis laxa, Cutis laxa osteoporosis, Cutis laxa  autosomal dominant, Cutis laxa  autosomal recessive type 1, Cutis laxa autosomal recessive type 2A, Cutis laxa autosomal recessive type 2B, Cutis marmorata telangiectatica congenita, Cutis verticis gyrata, Cutis verticis gyrata mental deficiency, Cutler Bass Romshe syndrome, Cyclic neutropenia, Cyclic thrombocytopenia, Cyclic vomiting syndrome, Cyclosporiasis, Cyprus facial neuromusculoskeletal syndrome, Cystic adenomatoid malformation of lung, Cystic fibrosis, Cystic hamartoma of lung and kidney, Cystic hygroma, Cystic hygroma lethal cleft palate, Cystic medial necrosis of aorta, Cysticercosis, Cystin transport  protein defect of, Cystinosis, Cystinosis ocular nonnephropathic, Cystinuria, Cystinuria-lysinuria, Cystosarcoma phyllodes, Cytokine deficiency, Cytokine receptor deficiency, Cytomegalic inclusion disease, Cytomegalovirus retinitis, Cytoplasmic body myopathy, Czech dysplasia metatarsal type, Czeizel Losonci syndrome

Rare Diseases and Disorders – Starting With “D”

D ercole syndrome, D-2-alpha hydroxyglutaric aciduria, D-bifunctional protein deficiency, D-glycericacidemia, D-minus hemolytic uremic syndrome (D-HUS), D-plus hemolytic uremic syndrome (D+HUS), Daentl Towsend Siegel syndrome, Dahlberg Borer Newcomer syndrome, Daish Hardman Lamont syndrome, Dancing eyes-dancing feet syndrome, Dandy-Walker complex, Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia, Dandy-Walker like malformation with atrioventricular septal defect, Dandy-Walker malformation associated with macrocephaly  facial anomalies  developmental delay  and brain stem dysgenesis, Dandy-Walker malformation with facial hemangioma, Dandy-Walker malformation with mental retardation basal ganglia disease and seizures, Dandy-Walker malformation with mental retardation  macrocephaly myopia and brachytelephalangy, Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia, Dandy-Walker malformation with postaxial polydactyly, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Daneman Davy Mancer syndrome, Danon disease, Darier disease, Dauwerse-Peters syndrome, Davenport Donlan syndrome, Davis Lafer syndrome, De Barsy syndrome, De Hauwere Leroy Adriaenssens syndrome, De Quervains’ disease, De Sanctis-Cacchione syndrome, Deafness conductive ptosis skeletal anomalies, Deafness conductive stapedial ear malformation facial palsy, Deafness craniofacial syndrome, Deafness enamel hypoplasia nail defects, Deafness epiphyseal dysplasia short stature, Deafness goiter stippled epiphyses, Deafness hyperuricemia neurologic ataxia, Deafness hypogonadism syndrome, Deafness hypospadias metacarpal and metatarsal syndrome, Deafness mesenteric diverticula of small bowel neuropathy, Deafness mixed with perilymphatic Gusher  X-linked, Deafness nephritis anorectal malformation, Deafness oligodontia syndrome, Deafness onychodystrophy dominant form, Deafness onychodystrophy osteodystrophy and mental retardation syndrome, Deafness peripheral neuropathy arterial disease, Deafness progressive cataract autosomal dominant, Deafness skeletal dysplasia lip granuloma, Deafness vitiligo achalasia, Deafness white hair contractures papillomas, Deafness with labyrinthine aplasia microtia and microdontia (LAMM), Deafness X-linked  DFN3, Deafness  autosomal dominant nonsyndromic sensorineural 17, Deafness  autosomal dominant nonsyndromic sensorineural 22, Deafness  autosomal dominant nonsyndromic sensorineural 23, Deafness  autosomal dominant nonsyndromic sensorineural 24, Deafness  autosomal dominant nonsyndromic sensorineural 3, Deafness  autosomal dominant nonsyndromic sensorineural 53, Deafness  autosomal recessive 51, Deafness  autosomal recessive 55, Deafness  isolated  due to mitochondrial transmission, Deafness  neurosensory nonsyndromic recessive  DFN, Deafness neurosensory  autosomal recessive 47, Deafness  progressive with stapes fixation, Deafness  X-linked 2, Deafness  X-linked  DFN, Deal Barratt Dillon syndrome, Defective apolipoprotein B-100, Deficiency of interleukin-1 receptor antagonist, Degos ‘en cocarde’ erythrokeratoderma, Degos disease, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema, Delayed membranous cranial ossification, Delayed speech facial asymetry strabismus ear lobe creases, Delleman Oorthuys syndrome, Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency, Delta-sarcoglycanopathy, Dementia familial British, Dementia familial Danish, Demodicidosis, Dengue fever, Dennis Fairhurst Moore syndrome, Dens in dente and palatal invaginations, Dent disease 1, Dent disease 2, Dentatorubral pallidoluysian atrophy, Dentin dysplasia sclerotic bones, Dentin dysplasia  coronal, Dentin dysplasia type 1, Dentinogenesis imperfecta 1, Dentinogenesis imperfecta Shields type 3, Denys-Drash syndrome, Depersonalization disorder, Der Kaloustian Mcintosh Silver syndrome, Dermal eccrine cylindroma, Dermatitis herpetiformis familial, Dermatocardioskeletal syndrome Boronne type, Dermatofibroma, Dermatofibrosarcoma protuberans, Dermatoleukodystrophy, Dermatomyositis, Dermatoosteolysis Kirghizian type, Dermatopathia pigmentosa reticularis, Dermochondrocorneal dystrophy of Franûáois, Dermoids of cornea, Dermoodontodysplasia, Desbuquois syndrome, Desmoid disease  hereditary, Desmoid tumor, Desmoplastic infantile astrocytoma, Desmoplastic infantile ganglioglioma, Desmoplastic small round cell tumor, Desmosterolosis, Developmental delay hypotonia extremities hypertrophy, Developmental dysphasia familial, Developmental dysplasia of hip, Devic disease, Devriendt syndrome, Dextrocardia, Dextrocardia with situs inversus, Dextrocardia with unusual facies and microphthalmia, Dextrocardia-bronchiectasis-sinusitis, DFNB1, Di Guglielmo’s syndrome, Diabetes hypogonadism deafness mental retardation, Diabetes insipidus nephrogenic mental retardation and intracerebral calcification, Diabetes mellitus  transient neonatal, Diabetes persistent mullerian ducts, Diabetes-deafness syndrome maternally transmitted, Diabetic mastopathy, Diamond-Blackfan anemia, Diamond-Blackfan anemia 2, Diamond-Blackfan anemia 3, Dianzani autoimmune lymphoproliferative syndrome, Diaphragmatic agenesis radial aplasia omphalocele, Diaphragmatic defect limb deficiency skull defect, Diaphragmatic hernia exomphalos corpus callosum agenesis, Diaphragmatic hernia upper limb defects, Diaphyseal medullary stenosis with malignant fibrous histiocytoma, Diastematomyelia, Diastrophic dysplasia, Dibasic aminoaciduria 1, Dibasic aminoaciduria 2, Dicarboxylic aminoaciduria, DICER1-related pleuropulmonary blastoma cancer predisposition syndrome, Die Smulders Droog Van Dijk syndrome, Die Smulders Vles Fryns syndrome, Diencephalic syndrome, Dieterich’s disease, Diethylstilbestrol antenatal infection, Diffuse astrocytoma, Diffuse cavernous hemangioma of the rectum, Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, Diffuse neonatal hemangiomatosis, Diffuse palmoplantar keratoderma  Bothnian type, Diffuse panbronchiolitis, Diffuse scleroderma, Diffuse systemic sclerosis, DiGeorge syndrome, Digitorenocerebral syndrome, Dihydropteridine reductase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydroxyadeninuria, Dilated cardiomyopathy, Dimauro disease, Dincsoy Salih Patel syndrome, Diomedi Bernardi Placidi syndrome, Dionisi Vici Sabetta Gambarara syndrome, Diphallia, Diphallus rachischisis imperforate anus, Diphosphoglycerate mutase deficiency of erythrocyte, Diphtheria, Diploid-triploid mosaicism, Diprosopia, Dipsogenic diabetes insipidus, Dissecting cellulitis of the scalp, Disseminated infection with mycobacterium avium complex, Distal arthrogryposis Moore Weaver type, Distal myopathy Markesbery-Griggs type, Distal myopathy with vocal cord weakness, Distal primary acidosis  familial, Distichiasis heart congenital anomalies, Distomatosis, DK phocomelia syndrome, Dobrow syndrome, Dominant cleft palate, Dominant ichthyosis vulgaris, Donnai Barrow syndrome, Dopamine beta hydroxylase deficiency, Dosage-sensitive sex reversal, Double cortex syndrome, Double discordia, Double fingernail of fifth finger, Double nails on the fifth toe, Double outlet left ventricle, Double outlet right ventricle, Double tachycardia induced by catecholamines, Double uterus-hemivagina-renal agenesis, Dowling-Degos disease, Doxorubicin induced cardiomyopathy, Doyne honeycomb retinal dystrophy, Drachtman Weinblatt Sitarz syndrome, Dracunculiasis, Dravet syndrome, Duane anomaly mental retardation, Duane syndrome, Duane syndrome type 1, Duane syndrome type 2, Duane syndrome type 3, Duane-radial ray syndrome, Dubin-Johnson syndrome, Dubowitz syndrome, Duchenne muscular dystrophy, Duhring Brocq disease, Duker Weiss Siber syndrome, Duodenal atresia, Duodenal atresia tetralogy of Fallot, Duodenal ulcer due to antral G-cell hyperfunction, Duodenojejunal atresia with volvulus absent dorsal mesentery and absent superior mesenteric artery, Duplication of leg mirror foot, Duplication of the thumb unilateral biphalangeal, Duplication of urethra, Dupont Sellier Chochillon syndrome, Dupuytren subungual exostosis, Dwarfism bluish sclerae, Dwarfism deafness retinitis pigmentosa, Dwarfism familial with muscle spasms, Dwarfism lethal type advanced bone age, Dwarfism Levi type, Dwarfism stiff joint ocular abnormalities, Dwarfism tall vertebrae, Dwarfism thin bones multiple fractures, Dwarfism low-birth-weight type with unresponsiveness to growth hormone, Dwarfism mental retardation and eye abnormality, Dwarfism proportionate with hip dislocation, Dyggve-Melchior-Clausen syndrome, Dykes Markes Harper syndrome, Dysautonomia like disorder, Dyschondrosteosis nephritis, Dyschromatosis symmetrica hereditaria 1, Dyschromatosis universalis hereditaria, Dysembryoplastic neuroepithelial tumor, Dysequilibrium syndrome, Dysesthetic Vulvodynia, Dysferlinopathy, Dysfibrinogenemia, Dysgnathia complex, Dysharmonic skeletal maturation muscular fiber disproportion, Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita autosomal recessive, Dyskeratosis congenita X-linked, Dyskinesia  drug induced, Dysmorphism abnormal vocalization mental retardation, Dysmorphism cleft palate loose skin, Dysosteosclerosis, Dysostosis acral with facial and genital abnormalities, Dysostosis peripheral, Dysphasic dementia hereditary, Dysplasia epiphysealis hemimelica, Dysplastic cortical hyperostosis, Dysraphism cleft lip palate limb reduction defects, Dyssegmental dysplasia and glaucoma, Dyssegmental dysplasia Rolland-Desbuquois type, Dyssegmental dysplasia Silverman-Handmaker type, Dyssynergia cerebellaris myoclonica, Dystelephalangy, Dystonia 1, Dystonia 10, Dystonia 11, Dystonia 12, Dystonia 13, Dystonia 15 myoclonic, Dystonia 16, Dystonia 17, Dystonia 18, Dystonia 19, Dystonia 2 torsion autosomal recessive, Dystonia 3  torsion  X-linked, Dystonia 4 torsion autosomal dominant type, Dystonia 5  Dopa-responsive type, Dystonia 6  torsion, Dystonia 7  torsion, Dystonia 8, Dystrophic epidermolysis bullosa, Dystrophinopathy

Rare Diseases and Disorders – Starting With “E”

EAF, Eagle syndrome, Eales disease, Early-onset ataxia with oculomotor apraxia and hypoalbuminemia, Eastern equine encephalitis, Ebola virus disease, Ebstein’s anomaly, Eccentrochondrodysplasia, Eccrine acrospiroma, Eccrine mucinous carcinoma, Eclampsia, Ectodermal dysplasia, Ectodermal dysplasia 2  hidrotic, Ectodermal dysplasia adrenal cyst, Ectodermal dysplasia alopecia preaxial polydactyly, Ectodermal dysplasia anhidrotic, Ectodermal dysplasia arthrogryposis diabetes mellitus, Ectodermal dysplasia Bartalos type, Ectodermal dysplasia Berlin type, Ectodermal dysplasia blindness, Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia, Ectodermal dysplasia Margarita type, Ectodermal dysplasia mental retardation CNS malformation, Ectodermal dysplasia mental retardation syndactyly, Ectodermal dysplasia neurosensory deafness, Ectodermal dysplasia osteosclerosis, Ectodermal dysplasia skin fragility syndrome, Ectodermal dysplasia trichoodontoonychial type, Ectodermal dysplasia with natal teeth Turnpenny type, Ectodermal dysplasia  hidrotic  Christianson-Fourie type, Ectodermal dysplasia  sensorineural hearing loss  and distinctive facial features, Ectopia lentis isolated autosomal recessive, Ectopia pupillae, Ectopic ossification familial type, Ectopic pregnancy, Ectrodactyly and ectodermal dysplasia without cleft lip/palate, Ectrodactyly cardiopathy dysmorphism, Ectrodactyly cleft palate syndrome, Ectrodactyly polydactyly, Ectropion inferior cleft lip and or palate, Edinburgh malformation syndrome, Edwards Patton Dilly syndrome, Edwards syndrome, EEC syndrome, EEM syndrome, Egg shaped pupils, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome arthrochalasia type, Ehlers-Danlos syndrome Beasley Cohen type, Ehlers-Danlos syndrome dermatosparaxis type, Ehlers-Danlos syndrome dysfibronectinemic type, Ehlers-Danlos syndrome hypermobility type, Ehlers-Danlos syndrome kyphoscoliotic type, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome type 5, Ehlers-Danlos syndrome vascular type, Ehlers-Danlos syndrome  classic type, Ehlers-Danlos-like syndrome due to tenascin-X deficiency, Ehrlichiosis, Eisenmenger syndrome, Elastosis perforans serpiginosa, Elective mutism, Elliott Ludman Teebi syndrome, Ellis Yale Winter syndrome, Ellis-Van Creveld syndrome, Emanuel syndrome, Embryonal carcinoma, Embryonal sarcoma, Emerinopathy, Emery Nelson syndrome, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy  dominant type, Emery-Dreifuss muscular dystrophy  X-linked, Emphysema  congenital lobar, Empty sella syndrome, Enamel hypoplasia cataract hydrocephaly, Encephalitis lethargica, Encephalocele, Encephalocele anencephaly, Encephalocraniocutaneous lipomatosis, Encephalomyopathy, Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration, Encephalopathy progressive optic atrophy, Encephalopathy recurrent of childhood, Encephalopathy-basal ganglia-calcification, Enchondroma, Enchondromatosis dwarfism deafness, Endemic Kaposi sarcoma, Endocardial fibroelastosis, Endolymphatic sac tumors (ELST’s) in Von Hippel Lindau (VHL) disease, Endometrial stromal sarcoma, Endomyocardial fibroelastosis, Endomyocardial fibrosis, Eng Strom syndrome, Engelhard Yatziv syndrome, Enlarged vestibular aqueduct syndrome, Enolase deficiency type 1, Enolase deficiency type 2, Enolase deficiency type 3, Enolase deficiency type 4, Enterobiasis, Enteropathica, Enteropathy-associated T-cell lymphoma, Enterovirus antenatal infection, Envenomization by bothrops lanceolatus, Eosinophilia-myalgia syndrome, Eosinophilic cryptitis, Eosinophilic cystitis, Eosinophilic enteropathy, Eosinophilic fasciitis, Eosinophilic pustular folliculitis, Ependymoblastoma, Ependymoma, Epidermal nevus vitamin D resistant rickets, Epidermodysplasia verruciformis, Epidermolysa bullosa simplex with muscular dystrophy, Epidermolysis bullosa, Epidermolysis bullosa acquisita, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex  Dowling-Meara type, Epidermolysis bullosa simplex generalized, Epidermolysis bullosa simplex  localized, Epidermolysis bullosa simplex  Ogna type, Epidermolysis bullosa  late-onset localized junctional  with mental retardation, Epidermolysis bullosa lethal acantholytic, Epidermolysis bullosa pretibial, Epilepsy benign neonatal dominant form, Epilepsy benign neonatal recessive form, Epilepsy juvenile absence, Epilepsy mental deterioration Finnish type, Epilepsy microcephaly skeletal dysplasia, Epilepsy occipital calcifications, Epilepsy progressive myoclonic type 3, Epilepsy telangiectasia, Epilepsy with myoclono-astatic crisis, Epilepsy  benign occipital, Epilepsy  female restricted with mental retardation, Epilepsy nocturnal frontal lobe type, Epilepsy partial familial, Epilepsy rolandic with paroxysmal exercise-induced dystonia and writer’s cramp, Epileptic encephalopathy Lennox-Gastaut type, Epimerase deficiency, Epimetaphyseal dysplasia cataract, Epimetaphyseal skeletal dysplasia, Epiphyseal dysplasia dysmorphism camptodactyly, Epiphyseal dysplasia hearing loss dysmorphism, Epiphyseal dysplasia multiple with early-onset diabetes mellitus, Episodic ataxia, Episodic ataxia with nystagmus, Epithelial basement membrane corneal dystrophy, Epithelial-myoepithelial carcinoma, Epithelioid sarcoma, Epitheliopathy  acute posterior multifocal placoid pigment, Erdheim-Chester disease, Ermine phenotype, Eronen Somer Gustafsson syndrome, Erosive pustular dermatosis of the scalp, Erysipelas, Erythema elevatum diutinum, Erythema multiforme, Erythema nodosum  familial, Erythema nodosum  idiopathic, Erythroderma desquamativa of Leiner, Erythroderma lethal congenital, Erythrokeratodermia ataxia, Erythrokeratodermia progressive symmetrica ichthyosis, Erythrokeratodermia symmetrica progressiva, Erythrokeratodermia variabilis ichthyosis, Erythrokeratodermia variabilis  Mendes da Costa type, Erythrokeratodermia with ataxia, Erythromelalgia  primary, Erythroplakia, Erythropoietic protoporphyria, Escher Hirt syndrome, Escobar syndrome  type B, Esophageal atresia, Esophageal atresia associated anomalies, Esophageal atresia coloboma talipes, Esophageal cancer, Esophageal cancer childhood, Esophageal duodenal atresia abnormalities of hands, Esophageal varices, Esotropia, Essential thrombocythemia, Esthesioneuroblastoma, Ethylmalonic encephalopathy, Eunuchoidism familial hypogonadotropic, Evans syndrome, Ewing’s family of tumors, Ewing’s sarcoma, Exencephaly, Exercise induced anaphylaxis, Exercise-induced hyperinsulinemic hypoglycemia, Exertional headache, Exfoliative dermatitis, Exogenous lipoid pneumonia, Exogenous ochronosis, Exostoses anetodermia brachydactyly type E, Exostoses multiple  type 1, Exostoses  multiple  type 2, Exostoses multiple  type 3, Exstrophy of the bladder, Exstrophy of the bladder-epispadias, Exsudative retinopathy familial  autosomal dominant, Exsudative retinopathy familial autosomal recessive, Exsudative retinopathy familial  X-linked  recessive, Exsudative retinopathy  familial, Extracranial germ cell tumor childhood, Extragonadal germ cell tumor, Extrasystoles short stature hyperpigmentation microcephaly, Eyebrows duplication of with stretchable skin and syndactyly

Rare Diseases and Disorders – Starting With “F”

Fabry disease, FACES syndrome, Facial asymetry temporal seizures, Facial clefting corpus callosum agenesis, Facial dysmorphism shawl scrotum joint laxity syndrome, Facial ectodermal dysplasia, Facies unusual arthrogryposis advanced skeletal malformations, Facio digito genital syndrome recessive form, Facio skeletal genital syndrome Rippberger type, Facio thoraco genital syndrome, Faciocardiomelic dysplasia lethal, Faciocardiorenal syndrome, Faciomandibular myoclonus nocturnal, Facioscapulohumeral muscular dystrophy 1A, Factor 2 deficiency, Factor V deficiency, Factor VII deficiency, Factor X deficiency, Factor X deficiency  congenital, Factor XI deficiency congenital, Factor XII deficiency, Factor XIII deficiency, Fairbank disease, Fallopian tube cancer, Fallot complex with severe mental and growth retardation, Fallot tetralogy, Familial adenomatous polyposis, Familial aortic dissection, Familial arteriosclerotic leukoencephalopathy  alopecia  lumbago without arterial hypertension, Familial band heterotopia, Familial bilateral striatal necrosis, Familial capillaro-venous leptomeningeal angiomatosis, Familial cold autoinflammatory syndrome, Familial colorectal cancer, Familial congenital fourth cranial nerve palsy, Familial cylindromatosis, Familial deafness, Familial dermographism, Familial dilated cardiomyopathy, Familial encephalopathy with neuroserpin inclusion bodies, Familial eosinophilia, Familial erythrocytosis  1, Familial exudative vitreoretinopathy, Familial hyperlipo-proteinemia type 1, Familial hypersecretion of adrenal androgens, Familial hypersensitivity pneumonitis, Familial hypertrophic cardiomyopathy, Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia type 1, Familial hypocalciuric hypercalcemia type 2, Familial hypocalciuric hypercalcemia type 3, Familial hypopituitarism, Familial hypothyroidism, Familial idiopathic basal ganglia calcification, Familial interstitial fibrosis, Familial Mediterranean fever, Familial multiple trichodiscomas, Familial myelofibrosis, Familial nasal acilia, Familial neurocardiogenic syncope, Familial non-immune hyperthyroidism, Familial opposable triphalangeal thumbs duplication, Familial partial paralysis, Familial periodic paralysis, Familial platelet disorder with associated myeloid malignancy, Familial porencephaly, Familial prostate cancer, Familial pulmonary arterial hypertension leucopenia and atrial septal defect, Familial renal cell carcinoma, Familial streblodactyly, Familial symmetric lipomatosis, Familial transthyretin amyloidosis, Familial Treacher Collins syndrome, Familial ventricular tachycardia, Familial Wilms tumor 2, Familial young-adult-onset arteriosclerotic, Fanconi anemia, Fanconi Bickel syndrome, Fanconi ichthyosis dysmorphism, Fanconi like syndrome, Fanconi renotubular syndrome, Fara Chlupackova syndrome, Farber’s disease, Farmer’s lung, Fascioliasis, Fatal familial insomnia, Fatal infantile encephalomyopathy, Fatty acid hydroxylase-associated neurodegeneration, Faulk Epstein Jones syndrome, Faye-Petersen Ward Carey syndrome, Fazio Londe syndrome, Febrile Ulceronecrotic Mucha-Habermann disease, Feigenbaum Bergeron Richardson syndrome, Feigenbaum Bergeron syndrome, Feingold Trainer syndrome, Felty’s syndrome, Femoral facial syndrome, Femur bifid with monodactylous ectrodactyly, Femur fibula ulna syndrome, Fenton Wilkinson Toselano syndrome, Ferlini Ragno Calzolari syndrome, Fernhoff Blackston Oakley syndrome, Fertile eunuch syndrome, Fetal akinesia syndrome X-linked, Fetal Alcohol Spectrum Disorders, Fetal aminopterin syndrome, Fetal and neonatal alloimmune thrombocytopenia, Fetal antihypertensive drugs syndrome, Fetal brain disruption sequence, Fetal diethylstilbestrol syndrome, Fetal edema, Fetal enterovirus syndrome, Fetal hydantoin syndrome, Fetal indomethacin syndrome, Fetal iodine syndrome, Fetal left ventricular aneurysm, Fetal macrosomia, Fetal methimazole syndrome, Fetal methyl mercury syndrome, Fetal minoxidil syndrome, Fetal parainfluenza virus type 3 syndrome, Fetal parvovirus syndrome, Fetal phenothiazine syndrome, Fetal retinoid syndrome, Fetal thalidomide syndrome, Fetal valproate syndrome, Fetal warfarin syndrome, FG syndrome, FG syndrome 2, FG syndrome 3, FG syndrome 4, Fibrinogen deficiency  congenital, Fibrocartilaginous embolism, Fibrochondrogenesis, Fibrodysplasia ossificans progressiva, Fibrolipomatosis, Fibromatosis juvenile hyaline, Fibromatosis multiple non ossifying, Fibromuscular dysplasia, Fibrosarcoma, Fibrosing alveolitis, Fibrosing mediastinitis, Fibrous dysplasia, Fibula aplasia complex brachydactyly, Fibular aplasia, Fibular aplasia ectrodactyly, Fibular hypoplasia and complex brachydactyly, Fibular hypoplasia scapulo pelvic dysplasia absent, Filippi syndrome, Fine-Lubinsky syndrome, Finger locking recurrent with intrauterine growth retardation and proportionate short stature, Fish-eye disease, Fistulous vegetative verrucous hydradenoma, Fitz-Hugh-Curtis syndrome, Fitzsimmons syndrome, Fitzsimmons Walson Mellor syndrome, Fitzsimmons-Guilbert syndrome, Flat umbilicus familial, Flaujeac factor deficiency, Flavimonas oryzihabitans, Floating-Harbor syndrome, Florid cemento-osseous dysplasia, Florid cystic endosalpingiosis of the uterus, Florid papillomatosis of the nipple, FLOTCH syndrome, Flynn Aird syndrome, Focal alopecia congenital megalencephaly, Focal cortical dysplasia of Taylor, Focal dermal hypoplasia, Focal dystonia, Focal facial dermal dysplasia, Focal or multifocal malformations in neuronal migration, Foix Chavany Marie syndrome, Follicle-stimulating hormone deficiency  isolated, Follicular dendritic cell tumor, Follicular lymphoma, Follicular lymphoreticuloma, Fontaine Farriaux Blanckaert syndrome, Forbes Albright syndrome, Formaldehyde poisoning, Forney Robinson Pascoe syndrome, Fountain syndrome, Fowler’s syndrome, Fox-Fordyce disease, Fragile X syndrome, Fragile X syndrome type 1, Fragile X syndrome type 2, Fragile X syndrome type 3, Fragile XE syndrome, Fragoso Cid Garcia Hernandez syndrome, Franceschini Vardeu Guala syndrome, Franek Bocker kahlen syndrome, Frank Ter Haar syndrome, Fraser Jequier Chen syndrome, Fraser like syndrome, Fraser syndrome, Frasier syndrome, FRAXD, Freeman Sheldon syndrome, Freiberg’s disease, Freire-Maia odontotrichomelic syndrome, Frenkel Russe syndrome, Frey’s syndrome, Frias syndrome, Friedel Heid Grosshans syndrome, Friedman Goodman syndrome, Friedreich ataxia, Friedreich ataxia congenital glaucoma, Frints De Smet Fabry Fryns syndrome, Froelich syndrome, Fronto nasal malformation cloacal exstrophy, Frontofacionasal dysplasia, Frontometaphyseal dysplasia, Frontonasal dysplasia, Frontonasal dysplasia acromelic, Frontonasal dysplasia Klippel Feil syndrome, Frontonasal dysplasia phocomelic upper limbs, Frontotemporal dementia, Frontotemporal dementia  ubiquitin-positive, Froster huch syndrome, Fructose-1 6-bisphosphatase deficiency, Fryns Fabry Remans syndrome, Fryns Hofkens Fabry syndrome, Fryns smeets thiry syndrome, Fryns syndrome, Fuchs atrophia gyrata chorioideae et retinae, Fuchs heterochromic iridocyclitis, Fucosidosis, Fucosidosis type 1, Fuhrmann syndrome, Fukuda Miyanomae Nakata syndrome, Fukuyama type muscular dystrophy, Fumaric aciduria, Functioning pancreatic endocrine tumor, Fundus dystrophy pseudoinflammatory  of Sorsby, Fuqua Berkovitz syndrome, Furunculous myiasis, Fused mandibular incisors

Rare Diseases and Disorders – Starting With “G”

Galactocele, Galactokinase deficiency, Galactorrhoea-Hyperprolactinaemia, Galactose epimerase deficiency, Galactosemia, Galactosialidosis, Gall bladder cancer, Game Friedman Paradice syndrome, Gamma aminobutyric acid transaminase deficiency, Gamma heavy chain disease, Gamma-cystathionase deficiency, Gangliocytoma, Ganglioglioma, Gangliosidosis generalized GM1 type 1, Gangliosidosis GM1 type 3, Gangliosidosis  generalized GM1 type 2, GAPO syndrome, Gardner Morrison Abbot syndrome, Gardner syndrome, Gardner-Diamond syndrome, Garret Tripp syndrome, Gas bloat syndrome, Gastric duplication cysts, Gastric lymphoma, Gastro-enteropancreatic neuroendocrine tumor, Gastrocutaneous syndrome, Gastrointestinal Stromal Tumors, Gastroschisis, Gaucher disease, Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Gaucher ichthyosis restrictive dermopathy, Gaucher-like disease, Gay Feinmesser Cohen syndrome, Gelatinous ascites, Geleophysic dwarfism, Gemignani syndrome, Genee-Wiedemann syndrome, Generalized dominant dystrophic epidermolysis bullosa, Generalized resistance to thyroid hormone, Generalized torsion dystonia, Genetic reflex epilepsy, Geniospasm, Genital dwarfism, Genital dwarfism  Turner type, Genito palato cardiac syndrome, Genoa syndrome, Genochondromatosis, Genu valgum  st Helena familial, Geographic tongue, German syndrome, Germinoma, Geroderma osteodysplasticum, Gershinibaruch Leibo syndrome, Gershoni-Baruch syndrome, Gerstmann syndrome, Gestational diabetes insipidus, Gestational trophoblastic tumor, Ghosal hematodiaphyseal dysplasia syndrome, Ghosal syndrome, Ghose Sachdev Kumar syndrome, Gianotti Crosti syndrome, Giant axonal neuropathy, Giant cell myocarditis, Giant congenital nevus, Giant ganglionic hyperplasia, Giant mammary hamartoma, Giant papillary conjunctivitis, Giant platelet syndrome, Gigantism, Gigantism advanced bone age hoarse cry, Gigantomastia, Gingival fibromatosis with distinctive facies, Gingival fibromatosis with hypertrichosis, Gingival fibromatosis 1, Gingival fibromatosis 2, Gingival fibromatosis 3, Gingival fibromatosis 4, Gitelman syndrome, Glanders, Glanzmann thrombasthenia, Glass Chapman Hockley syndrome, Glassy cell carcinoma of the cervix, Glaucoma 3 primary infantile B, Glaucoma iridogoniodysgenesia, Glaucoma sleep apnea, Glaucoma type 1C, Glaucoma  congenital, Glaucoma  Ectopia  Microspherophakia  Stiff joints and Short stature syndrome, Glaucoma  hereditary, Glaucoma hereditary adult type 1A, Glaucoma hereditary juvenile type 1B, Glaucoma  primary infantile type 3A, Glioblastoma, Glioma, Gliomatosis cerebri, Gliosarcoma, Global disaccharide intolerance, Glomerulonephritis, Glomerulonephritis with sparse hair and telangiectases, Glomerulopathy with fibronectin deposits 1, Glomerulopathy with fibronectin deposits 2, Glomus jugulare tumors, Glomus tympanicum tumor, Glomus vagale tumors, Glossodynia, Glossopalatine ankylosis micrognathia ear anomalies, Glossopharyngeal neuralgia, Glucagonoma, Glucagonoma syndrome, Glucocorticoid deficiency  familial, Glucocorticoid resistance, Glucocorticoid-remediable aldosteronism, Glucose 6 phosphate dehydrogenase deficiency, Glucose transporter type 1 deficiency syndrome, Glucose-6-phosphate translocase deficiency, Glucose-galactose malabsorption, Glucosephosphate isomerase deficiency, Glucosidase acid-1 4-alpha deficiency, Glut2 deficiency, Glutamate decarboxylase deficiency, Glutamate formiminotransferase deficiency, Glutamine deficiency  congenital, Glutaric acidemia type I, Glutaric acidemia type II, Glutathione synthetase deficiency, Glutathionuria, Glyceraldehyde-3-phosphate dehydrogenase deficiency, Glycine encephalopathy, Glycine N-methyltransferase deficiency, Glycogen storage disease 8, Glycogen storage disease type 0, Glycogen storage disease type 0  muscle, Glycogen storage disease type 12, Glycogen storage disease type 13, Glycogen storage disease type 1A, Glycogen storage disease type 1B, Glycogen storage disease type 2, Glycogen storage disease type 3, Glycogen storage disease type 4, Glycogen storage disease type 5, Glycogen storage disease type 6, Glycogen storage disease type 6  due to phosphorylation, Glycogen storage disease type 7, Glycoproteinosis, Glycosylphosphatidylinositol deficiency, GM2 gangliosidosis  0 variant, GM2-gangliosidosis B B1 AB variant, Gms syndrome, Gnathostoma Infection, Goblet cell carcinoma, Goldberg-Shprintzen megacolon syndrome, Goldenhar disease, Goldmann-Favre syndrome, Goldstein Hutt syndrome, Gollop Coates syndrome, Gollop syndrome, GOMBO syndrome, Gomez Lopez Hernandez syndrome, Gonadal dysgenesis, Gonadal dysgenesis mixed, Gonadal dysgenesis Turner type, Gonadal dysgenesis XY type associated anomalies, Gonadal dysgenesis  XX type, Goniodysgenesis mental retardation short stature, Gonococcal conjunctivitis, Gonzales Del Angel syndrome, Good syndrome, Goodman syndrome, Goodpasture syndrome, Gordon syndrome, Gorham’s disease, Gorlin Bushkell Jensen syndrome, Gorlin Chaudhry Moss syndrome, Gouty nephropathy  familial, Gracile bone dysplasia, GRACILE syndrome, Graham Boyle Troxell syndrome, Grand Kaine Fulling syndrome, Grant syndrome, Granulocytopenia, Granuloma annulare, Granuloma Inguinale, Granulomas  congenital cerebral, Granulomatous Angiitis of the Central Nervous System, Granulomatous hypophysitis, Granulomatous rosacea, Granulosa cell tumor of the ovary, Graphite Pneumoconiosis, Graves’ disease, Gray platelet syndrome, Green Sandford Davison syndrome, Greig cephalopolysyndactyly syndrome, Griscelli syndrome type 1, Griscelli syndrome type 2, Griscelli syndrome type 3, Grix Blankenship Peterson syndrome, Groenouw type I corneal dystrophy, Groll Hirschowitz syndrome, Grosse syndrome, Group B strep disease in newborns, Growth and mental retardation  mandibulofacial dysostosis  microcephaly  and cleft palate, Growth deficiency brachydactyly unusual facies, Growth hormone deficiency, Growth hormone insensitivity with immunodeficiency, Growth mental deficiency syndrome of Myhre, Growth retardation alopecia pseudoanodontia optic, Growth retardation hydrocephaly lung hypoplasia, Growth retardation mental retardation phalangeal hypoplasia, Grubben de Cock Borghgraef syndrome, GTP cyclohydrolase I deficiency, Guanidinoacetate methyltransferase deficiency, Guillain-Barre syndrome, Guizar Vasquez Sanchez Manzano syndrome, Gupta Patton syndrome, Gurrieri syndrome, Guttate psoriasis, Gynandroblastoma

Rare Diseases and Disorders – Starting With “H”

Haemophilus influenzae, Hailey-Hailey disease, Haim-Munk syndrome, Hair defect with photosensitivity and mental retardation, Hairy cell leukemia, Hairy elbows, Hairy nose tip, Hairy palms and soles, Hairy tongue, Halal Setton Wang syndrome, Halal syndrome, Hall Riggs mental retardation syndrome, Hallermann-Streiff syndrome, Halo nevi, Hamanishi Ueba Tsuji syndrome, Hamano Tsukamoto syndrome, Hand and foot deformity with flat facies, Hand foot uterus syndrome, Hand-Schuller-Christian disease, Hanhart syndrome, Hansen’s disease, Hantavirosis, Hantavirus pulmonary syndrome, Hard skin syndrome Parana type, Hardikar syndrome, Harding ataxia, Harlequin ichthyosis, Harlequin syndrome, Harrod Doman Keele syndrome, Hartnup disease, Hashimoto’s encephalitis, Hashimoto-Pritzker syndrome, Hawkinsinuria, Hay-Wells syndrome, Heart defect  tongue hamartoma and polysyndactyly, Heart tumor, Heart-hand syndrome  Slovenian type, Heart-hand syndrome Spanish type, Heavy metal poisoning, HEC syndrome, Hecht Scott syndrome, Heinz body anemias, HELLP syndrome, Helminthiasis, Hemangioblastoma, Hemangioendothelioma, Hemangioma thrombocytopenia syndrome, Hemangiomatosis  familial pulmonary capillary, Hemangiopericytoma, Hemeralopia  congenital essential, Hemeralopia familial, Hemi 3 syndrome, Hemicrania continua, Hemifacial atrophy agenesis of the caudate nucleus, Hemifacial hyperplasia strabismus, Hemifacial myohyperplasia, Hemihypertrophy intestinal web corneal opacity, Hemimegalencephaly, Hemiplegia, Hemiplegic migraine, Hemiplegic migraine familial type 1, Hemiplegic migraine  familial type 2, Hemochromatosis type 2, Hemochromatosis type 3, Hemochromatosis type 4, Hemoglobin C disease, Hemoglobin E disease, Hemoglobin SC disease, Hemoglobin sickle-beta thalassemia, Hemoglobin Zurich, Hemoglobinemia, Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities, Hemolytic uremic syndrome, Hemolytic uremic syndrome  atypical, Hemolytic uremic syndrome atypical childhood, Hemophagocytic lymphohistiocytosis, Hemophagocytic lymphohistiocytosis  familial  2, Hemophagocytic lymphohistiocytosis familial  3, Hemophagocytic lymphohistiocytosis familial  4, Hemophagocytic reticulosis, Hemophilia, Hemophilia A acquired, Hemophilia A congenital, Hemophilia B, Hemophilic arthropathy, Hemorrhagic fever, Hemorrhagic proctocolitis, Hemorrhagic shock and encephalopathy syndrome, Hemosiderosis, Hennekam syndrome, Hennekam Van der Horst syndrome, Henoch-Schonlein purpura, Hepadnavirus infection, Heparane sulfamidase deficiency, Heparin induced thrombocytopenia, Hepatic cystic hamartoma, Hepatic encephalopathy, Hepatic fibrosis renal cysts mental retardation, Hepatic venoocclusive disease with immunodeficiency, Hepatitis E, Hepatitis X (non-A -B -C -D -E), Hepatoblastoma, Hepatocellular carcinoma (fibrolamellar variant), Hepatocellular carcinoma  adult, Hepatocellular carcinoma childhood, Hepatoerythropoietic porphyria, Hepatorenal syndrome, Hereditary amyloidosis, Hereditary angioedema, Hereditary ataxia, Hereditary cerebellar ataxia syndrome of early onset, Hereditary cerebral hemorrhage with amyloidosis, Hereditary congenital facial paresis, Hereditary coproporphyria, Hereditary elliptocytosis, Hereditary endotheliopathy retinopathy  nephropathy  and stroke, Hereditary fructose intolerance, Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia type 2, Hereditary hemorrhagic telangiectasia type 3, Hereditary hemorrhagic telangiectasia type 4, Hereditary hyperuricemia, Hereditary koilonychia, Hereditary lymphedema type II, Hereditary methemoglobinemia recessive, Hereditary mucoepithelial dysplasia, Hereditary multiple osteochondromas, Hereditary myopathy with intranuclear filamentous, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Hereditary nodular heterotopia, Hereditary orotic aciduria without megaloblastic anaemia, Hereditary pancreatitis, Hereditary paroxysmal cerebral ataxia, Hereditary peripheral nervous disorder, Hereditary primary Fanconi disease, Hereditary resistance to anti-vitamin K, Hereditary sensory and autonomic neuropathy 3, Hereditary sensory and autonomic neuropathy type 2, Hereditary spastic paraplegia, Hereditary spherocytosis, Hereditary type 1 neuropathy, Hereditary type 2 neuropathy, Hereditary vascular retinopathy, Hermansky Pudlak syndrome 2, Hermansky-Pudlak syndrome, Herpes simiae (B virus), Herpes simplex encephalitis, Herpes virus antenatal infection, Herpes zoster ophthalmicus, Herpes zoster oticus, Herpesvirus simiae B virus, Herpetic embryopathy, Herpetic keratitis, Herrmann Opitz arthrogryposis syndrome, Herrmann Opitz craniosynostosis, Herrmann syndrome, Hersh Podruch Weisskopk syndrome, Heterochromia iridis, Heterotaxia autosomal dominant type, Heterotaxy with polysplenia or asplenia, Heterotaxy visceral  X-linked, Hexokinase deficiency hemolytic anemia, HHV-6 encephalitis, Hidradenitis suppurativa  familial, Hidradenocarcinoma, High-molecular-weight kininogen deficiency congenital, Hillig syndrome, Hing Torack Dowston syndrome, Hinson-Pepys disease, Hip luxation, Hip subluxation, Hipo syndrome, Hirschsprung disease ganglioneuroblastoma, Hirschsprung disease polydactyly heart disease, Hirschsprung disease type 2, Hirschsprung disease type 3, Hirschsprung disease type d brachydactyly, Hirschsprung microcephaly cleft palate, Hirschsprung nail hypoplasia dysmorphism, Hirschsprung’s disease, Hirsutism skeletal dysplasia mental retardation, His bundle tachycardia, Histidinemia, Histidinuria renal tubular defect, Histiocytosis with joint contractures and sensorineural deafness, Histiocytosis Non-Langerhans-Cell, Hittner Hirsch Kreh syndrome, Hm syndrome, HMG CoA lyase deficiency, HMG CoA synthetase deficiency, Ho Kaufman Mcalister syndrome, Hodgkin disease X-linked pseudoautosomal, Hodgkin lymphoma, Hodgkin lymphoma  childhood, Hodgkin lymphoma  during pregnancy, Holmes Borden syndrome, Holmes Collins syndrome, Holoacardius amorphus, Holocarboxylase synthetase deficiency, Holoprosencephaly, Holoprosencephaly caudal dysgenesis, Holoprosencephaly deletion 2p, Holoprosencephaly ectrodactyly cleft lip palate, Holoprosencephaly radial heart renal anomalies, Holoprosencephaly recurrent infections and monocytosis, Holt-Oram syndrome, Holzgreve syndrome, Homocarnosinosis, Homocysteinemia, Homocysteinemia due to MTHFR deficiency, Homocystinuria, Homocystinuria due to CBS deficiency, Homocystinuria due to defect in methylation cbl e, Homocystinuria due to defect in methylation cbl g, Homologous wasting disease, Hooft disease, Hoon Hall syndrome, Hordnes Engebretsen Knudtson syndrome, Horn Kolb syndrome, Horner’s syndrome, Hornova Dlurosova syndrome, Horseshoe kidney, Hortons disease, Houlston Ironton Temple syndrome, Howard Young syndrome, Howel-Evans syndrome, Hoyeraal Hreidarsson syndrome, Hoyeraal syndrome, HTLV-1 associated myelopathy/tropical spastic paraparesis, Human granulocytic ehrlichiosis, Human monocytic ehrlichiosis, Human parvovirus B19 infection, Human spumaretrovirus infection, Human T-cell leukemia virus type 1, Human T-cell leukemia virus type 2, Human T-cell leukemia virus type 3, Humeroradial synostosis, Humeroradioulnar synostosis, Hunter Carpenter Macdonald syndrome, Hunter Macpherson syndrome, Hunter Mcdonald syndrome, Hunter Rudd Hoffmann syndrome, Hunter-McAlpine syndrome, Huntington disease, Hurst Hallam Hockey syndrome, Hutchinson incisors, Hutterite cerebroosteonephrodysplasia syndrome, Hutteroth Spranger syndrome, Hyalinosis systemic short stature, Hydatidiform mole, Hydatidosis, Hyde Forster Mccarthy Berry syndrome, Hydranencephaly, Hydroa vacciniforme, Hydroa vacciniforme  familial, Hydrocephalus, Hydrocephalus autosomal recessive, Hydrocephalus costovertebral dysplasia Sprengel anomaly, Hydrocephalus craniosynostosis bifid nose, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, Hydrocephalus endocardial fibroelastosis cataract, Hydrocephalus growth retardation skeletal anomalies, Hydrocephalus obesity hypogonadism, Hydrocephalus skeletal anomalies, Hydrocephaly corpus callosum agenesis diaphragmatic hernia, Hydrocephaly low insertion umbilicus, Hydrocephaly tall stature joint laxity, Hydrolethalus syndrome, Hydronephrosis peculiar facial expression, Hydrops ectrodactyly syndactyly, Hydrops fetalis, Hydrops fetalis anemia immune disorder absent thumb, Hydrops  Ectopic calcification  Moth-eaten skeletal dysplasia, Hydroxycarboxylic aciduria, Hydroxykynureninuria, Hydroxyprolinemia, Hygroma cervical, Hymenolepiasis, Hyper-IgD syndrome, Hyper-reninism, Hyperacusis, Hyperadrenalism, Hyperaldosteronism familial type 2, Hyperbetaalaninemia, Hyperbilirubinemia transient familial neonatal, Hyperbilirubinemia type 1, Hyperbilirubinemia type 2, Hypercalcinuria macular coloboma, Hypercementosis, Hyperekplexia hereditary, Hypereosinophilic syndrome, Hyperferritinemia cataract syndrome, Hyperglycerolemia, Hyperglycinemia isolated nonketotic, Hyperglycinemia isolated nonketotic type 1, Hyperglycinemia  isolated nonketotic type 2, Hypergonadotropic ovarian failure  familial or sporadic, Hyperimidodipeptiduria, Hyperinsulinemic hypoglycemia familial 2, Hyperinsulinemic hypoglycemia familial 3, Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, Hyperinsulinism diffuse, Hyperinsulinism focal, Hyperinsulinism-hyperammonemia syndrome, Hyperkalemic periodic paralysis, Hyperkeratosis lenticularis perstans, Hyperkeratosis palmoplantar localized acanthokeratolytic, Hyperkeratosis palmoplantar localized epidermolytic, Hyperlipoproteinemia type 1, Hyperlipoproteinemia type 2, Hyperlipoproteinemia type 3, Hyperlipoproteinemia type 4, Hyperlipoproteinemia type 5, Hyperlysinemia, Hypermanganesemia with dystonia polycythemia and cirrhosis, Hyperornithinemia, Hyperostosis cortical infantile, Hyperostosis corticalis generalisata, Hyperostosis corticalis generalisata  benign form of Worth with torus palatinus, Hyperostosis-hyperphosphatemia syndrome, Hyperoxaluria, Hyperparathyroidism  familial primary, Hyperparathyroidism neonatal severe primary, Hyperparathyroidism primary, Hyperparathyroidism-jaw tumor syndrome, Hyperphenilalaninemia due to pterin-4-alpha-carbin, Hyperphenylalaninemia due to dehydratase deficiency, Hyperpipecolatemia, Hyperprolinemia, Hyperprolinemia type 2, Hypersensitivity vasculitis, Hypertelorism and tetralogy of Fallot, Hypertensive hypokalemia familial, Hyperthermia induced defects, Hyperthyroidism due to mutations in TSH receptor, Hypertrichosis atrophic skin ectropion macrostomia, Hypertrichosis congenital generalized X-linked, Hypertrichosis lanuginosa congenita, Hypertrichosis lanuginosa  acquired, Hypertrichosis  anterior cervical, Hypertrichosis  hyperkeratosis  mental retardation  and distinctive facial features, Hypertrichotic osteochondrodysplasia, Hypertrophic branchial myopathy, Hypertrophic hemangiectasia, Hypertrophic neuropathy of Dejerine-Sottas, Hypertrophic osteoarthropathy  primary or idiopathic, Hypertryptophanemia, Hypnic headache, Hypoadrenalism, Hypoaldosteronism, Hypoalphalipoproteinemia  primary, Hypobetalipoproteinaemia ataxia hearing loss, Hypobetalipoproteinemia  familial, Hypocalcemia  autosomal dominant, Hypochondroplasia, Hypocomplementemic urticarial vasculitis, Hypodermyasis, Hypodontia dysplasia of nails, Hypodontia of incisors and premolars, Hypodontia X-linked, Hypofibrinogenemia  familial, Hypoglycemia with deficiency of glycogen synthetase in the liver, Hypogonadism cardiomyopathy, Hypogonadism male mental retardation skeletal anomaly, Hypogonadism mitral valve prolapse mental retardation, Hypogonadism primary partial alopecia, Hypogonadism retinitis pigmentosa, Hypogonadism alopecia diabetes mellitus mental retardation and extrapyramidal syndrome, Hypogonadism isolated hypogonadotropic, Hypogonadotropic hypogonadism without anosmia  X-linked, Hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia autosomal dominant, Hypohidrotic ectodermal dysplasia autosomal recessive, Hypohidrotic ectodermal dysplasia with immune deficiency, Hypokalemic periodic paralysis, Hypoketonemic hypoglycemia, Hypolipoproteinemia, Hypomagnesemia 2 renal, Hypomagnesemia primary, Hypomandibular faciocranial dysostosis, Hypomelanosis of Ito, Hypomelanotic disorder, Hypomelia mullerian duct anomalies, Hypoparathyroidism, Hypoparathyroidism familial isolated, Hypoparathyroidism retardation dysmorphism syndrome, Hypoparathyroidism short stature mental retardation, Hypoparathyroidism X-linked, Hypopharyngeal cancer, Hypophosphatasia, Hypophosphatasia childhood, Hypophosphatemic rickets, Hypopituitarism, Hypopituitarism micropenis cleft lip palate, Hypopituitarism postaxial polydactyly, Hypoplasia hepatic ductular, Hypoplasia of the tibia with polydactyly, Hypoplastic left heart syndrome, Hypoplastic right heart syndrome, Hypoplastic thumb mullerian aplasia, Hypoplastic thumbs hydranencephaly, Hyporeninemic hypoaldosteronism, Hyposmia nasal hypoplasia hypogonadism, Hypospadias familial, Hypospadias mental retardation Goldblatt type, Hypotelorism cleft palate hypospadias, Hypothalamic dysfunction, Hypothalamic hamartomas, Hypothyroidism due to iodide transport defect, Hypothyroidism postaxial polydactyly mental retardation, Hypotonia congenital nystagmus ataxia and abnormal auditory brainstem response, Hypotonic sclerotic muscular dystrophy, Hypotrichosis simplex, Hypoxanthine guanine phosphoribosyltransferase deficiency

Rare Diseases and Disorders – Starting With “I”

I cell disease, IBIDS syndrome, ICF syndrome, Ichthyosiform erythroderma  corneal involvement  deafness, Ichthyosiform erythroderma nonbullous congenital, Ichthyosis alopecia eclabion ectropion mental retardation, Ichthyosis and male hypogonadism, Ichthyosis bullosa of Siemens, Ichthyosis cheek eyebrow syndrome, Ichthyosis congenita biliary atresia, Ichthyosis deafness mental retardation skeletal anomaly, Ichthyosis follicularis atrichia photophobia syndrome, Ichthyosis hepatosplenomegaly cerebellar degeneration, Ichthyosis hystrix gravior, Ichthyosis hystrix  Curth Macklin type, Ichthyosis lamellar 1, Ichthyosis lamellar 2, Ichthyosis lamellar 3, Ichthyosis lamellar  autosomal dominant, Ichthyosis linearis circumflexa, Ichthyosis mental retardation dwarfism renal impairment, Ichthyosis prematurity syndrome, Ichthyosis tapered fingers midline groove up, Ichthyosis vulgaris, Ichthyosis with hypotrichosis  autosomal recessive, Ichthyosis acquired, Ichthyosis erythrokeratolysis hemalis, Ichthyosis follicular, Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis, Ichthyosis mental retardation  dwarfism and renal impairment, Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin, Idiopathic acute eosinophilic pneumonia, Idiopathic adolescent scoliosis, Idiopathic alveolar hypoventilation syndrome, Idiopathic basal ganglia calcification childhood-onset, Idiopathic diffuse interstitial fibrosis, Idiopathic dilatation of the pulmonary artery, Idiopathic dilated cardiomyopathy, Idiopathic double athetosis, Idiopathic eosinophilic chronic pneumopathy, Idiopathic juxtafoveal retinal telangiectasia, Idiopathic myopathy, Idiopathic pulmonary fibrosis, Idiopathic pulmonary hemosiderosis, Idiopathic pulmonary hypertension, Idiopathic subglottic tracheal stenosis, Idiopathic thrombocytopenic purpura, Iida Kannari syndrome, Illum syndrome, Imaizumi Kuroki syndrome, Imerslund-Grasbeck syndrome, Iminoglycinuria, Immotile cilia syndrome due to defective radial spokes, Immune defect due to absence of thymus, Immune deficiency familial variable, Immune dysfunction with T-cell inactivation due to calcium entry defect 1, Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Immune thrombocytopenia, Immunodeficiency with hyper IgM type 1, Immunodeficiency with hyper IgM type 2, Immunodeficiency with hyper IgM type 3, Immunodeficiency with hyper IgM type 4, Immunodeficiency with hyper IgM type 5, Immunodeficiency without anhidrotic ectodermal dysplasia, Immunodeficiency  microcephaly with normal intelligence, Immunodysregulation  polyendocrinopathy and enteropathy X-linked, Immunoglobulin A deficiency 2, Impairment of oral perception, Imperforate anus, Imperforate oropharynx costo vetebral anomalies, Impossible syndrome, Inborn amino acid metabolism disorder, Inborn renal aminoaciduria, Inclusion body myopathy 2, Inclusion body myopathy 3, Inclusion body myositis, Inclusion conjunctivitis, Incontinentia pigmenti, Indolent B cell lymphoma, Indomethacin antenatal infection, Infant epilepsy with migrant focal crisis, Infantile apnea, Infantile axonal neuropathy, Infantile convulsions and paroxysmal choreoathetosis  familial, Infantile digital fibromatosis, Infantile histiocytoid cardiomyopathy, Infantile multisystem inflammatory disease, Infantile myofibromatosis, Infantile onset spinocerebellar ataxia, Infantile Parkinsonism-dystonia, Infantile recurrent chronic multifocal osteomyolitis, Infantile scoliosis, Infantile sialic acid storage disorder, Infantile spasms broad thumbs, Infantile striato thalamic degeneration, Infantile-onset ascending hereditary spastic paralysis, Infectious arthritis, Infectious myocarditis, Infective endocarditis, Infective myositis, Inflammatory breast cancer, Inflammatory linear verrucous epidermal nevus, Inflammatory myofibroblastic tumor, Infundibulopelvic dysgenesis, Inherited hypoprothrombinemia, Inherited peripheral neuropathy, Iniencephaly, Insensitivity to pain  congenital  with anhidrosis, Insulin autoimmune syndrome, Insulin-like growth factor 1 resistance to, Insulin-like growth factor I deficiency, Insulin-resistance type B, Insulin-resistant acanthosis nigricans  type A, Insulinoma, Intellectual deficit Buenos-Aires type, Intercellular cholesterol esterification disease, Interferon gamma  receptor 1  deficiency, Internal carotid agenesis, Intervertebral disc disease, Intestinal atresia multiple, Intestinal pseudo-obstruction, Intestinal pseudoobstruction neuronal chronic idiopathic X-linked, Intracranial aneurysms multiple congenital anomaly, Intracranial arteriovenous malformation, Intractable hiccups, Intrahepatic cholangiocarcinoma, Intraocular melanoma, Intrathoracic kidney vertebral fusion, Intrauterine growth retardation mandibular malar hypoplasia, Intrauterine growth retardation with increased mitomycin C sensitivity, Intrauterine infections, Intravascular papillary endothelial hyperplasia, Intravenous leiomyomatosis, Intrinsic factor  congenital deficiency of, Iodine antenatal infection, IRAK4 deficiency, Iridocorneal endothelial syndrome, Iridogoniodysgenesis and skeletal anomalies, Iridogoniodysgenesis type1, Iridogoniodysgenesis  dominant type, Iris coloboma with ptosis hypertelorism and mental retardation, Iris dysplasia hypertelorism deafness, Iris hypoplasia and glaucoma, Irons Bhan syndrome, Isaac’s syndrome, Ischiadic hypoplasia renal dysfunction immunodeficiency, Ischiopatellar dysplasia, Isobutyryl-CoA dehydrogenase deficiency, Isolated growth hormone deficiency type 1A, Isolated growth hormone deficiency type 1B, Isolated growth hormone deficiency type 2, Isolated growth hormone deficiency type 3, Isosporiasis, Isotretinoin embryopathy like syndrome, Isovaleric acidemia, Isthmian coarctation, ITCH E3 ubiquitin ligase deficiency, Ivemark syndrome, IVIC syndrome

Rare Diseases and Disorders – Starting With “J”

Jackson-Weiss syndrome, Jacobsen syndrome, Jaffer Beighton syndrome, Jamaican vomiting sickness, Jankovic Rivera syndrome, Jansen type metaphyseal chondrodysplasia, Japanese encephalitis, Jejunal atresia, Jejunal atresia with renal adysplasia, Jensen syndrome, Jervell and Lange-Nielsen syndrome 2, Jervell Lange-Nielsen syndrome, Jeune syndrome, Jeune syndrome situs inversus, Johanson Blizzard syndrome, Johnson Hall Krous syndrome, Johnson Munson syndrome, Johnson neuroectodermal syndrome, Johnston Aarons Schelley syndrome, Joint laxity  familial, Jones Hersh Yusk syndrome, Jones syndrome, Jorgenson Lenz syndrome, Joubert syndrome, Joubert syndrome 2, Joubert syndrome with ocular anomalies, Joubert syndrome with oculorenal anomalies, Joubert syndrome with renal anomalies, Juberg Hayward syndrome, Juberg Marsidi syndrome, Judge Misch Wright syndrome, Jumping Frenchmen of Maine, Junctional epidermolysis bullosa, Junctional epidermolysis bullosa inversa, Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa  Herlitz type, Junctional epidermolysis bullosa  non-Herlitz type, Jung Wolff Back Stahl syndrome, Juvenile dermatomyositis, Juvenile gout, Juvenile Huntington disease, Juvenile macular degeneration and hypotrichosis, Juvenile myelomonocytic leukemia, Juvenile myoclonic epilepsy, Juvenile osteoporosis, Juvenile polyposis syndrome, Juvenile primary lateral sclerosis, Juvenile retinoschisis, Juvenile Scleroderma, Juvenile temporal arteritis, Juvenile-onset dystonia

Rare Diseases and Disorders – Starting With “K”

Kabuki syndrome, Kallikrein hypertension, Kallmann syndrome, Kallmann syndrome 1, Kallmann syndrome 2, Kallmann syndrome 3, Kallmann syndrome 4, Kallmann syndrome 5, Kallmann syndrome 6, Kanzaki disease, Kaolin pneumoconiosis, Kaplan Plauchu Fitch syndrome, Kaplowitz Bodurtha syndrome, Kaposiform Hemangioendothelioma, Kapur Toriello syndrome, Karak syndrome, Karandikar Maria Kamble syndrome, Kartagener syndrome, Kashani Strom Utley syndrome, Kasznica Carlson Coppedge syndrome, Katsantoni Papadakou Lagoyanni syndrome, Kaufman oculocerebrofacial syndrome, Kawasaki syndrome, KBG syndrome, Kearns Sayre syndrome, Kennerknecht Vogel syndrome, Kenny-Caffey syndrome type 1, Kenny-Caffey syndrome type 2, Keratitis  hereditary, Keratoconus, Keratoconus posticus circumscriptus, Keratoderma palmoplantar deafness, Keratoderma palmoplantar spastic paralysis, Keratoderma palmoplantaris transgrediens, Keratolytic winter erythema, Keratomalacia, Keratosis focal palmoplantar gingival, Keratosis follicularis dwarfism and cerebral atrophy, Keratosis follicularis spinulosa decalvans, Keratosis palmoplantaris adenocarcinoma of the colon, Keratosis palmoplantaris papulosa, Keratosis palmoplantaris striata 1, Keratosis palmoplantaris striata 3, Keratosis  seborrheic, Kerion celsi, Kernicterus, Keshan disease, Keutel syndrome, KID syndrome, Kidney cancer, Kidney cancer  childhood, Kienbock’s disease, Kifafa seizure disorder, Kikuchi disease, Kimura disease, Kindler syndrome, King Denborough syndrome, Kingella infections, Klatskin tumor, Klebsiella, Kleeblattschaedel syndrome, Kleefstra syndrome, Kleine Levin syndrome, Kleiner Holmes syndrome, Klinefelter syndrome, Klinefelter syndrome  variants, Klippel Feil syndrome, Klippel Trenaunay syndrome, Klumpke paralysis, Kluver Bucy syndrome, Kniest dysplasia, Kniest like dysplasia lethal, Kniest-like dysplasia with pursed lips and ectopia lentis, Knobloch syndrome, Knuckle pads  leuconychia and sensorineural deafness, Kocher-Debre-Semelaigne syndrome, Kohler disease, Kohlschutter Tonz syndrome, Konigsmark Knox Hussels syndrome, Koone Rizzo Elias syndrome, Kosztolanyi syndrome, Kotzot-Richter syndrome, Kousseff Nichols syndrome, Kowarski syndrome, Kozlowski Brown Hardwick syndrome, Kozlowski Celermajer Tink syndrome, Kozlowski Ouvrier syndrome, Kozlowski Rafinski Klicharska syndrome, Kozlowski Warren Fisher syndrome, Kozlowski-Krajewska syndrome, Krabbe disease atypical due to Saposin A deficiency, Krabbe leukodystrophy, Krasnow Qazi syndrome, Krauss Herman Holmes syndrome, Krieble Bixler syndrome, Krukenberg carcinoma, KSHV inflammatory cytokine syndrome, Kurczynski Casperson syndrome, Kuru, Kuskokwim disease, Kuster Majewski Hammerstein syndrome, Kuster syndrome, Kyasanur Forest disease, Kyphomelic dysplasia, Kyphosis brachyphalangy optic atrophy, Kyrle disease

Rare Diseases and Disorders – Starting With “L”

L-2-hydroxyglutaric aciduria, Laband syndrome, Labrador lung, Lachiewicz Sibley syndrome, Lacrimo-auriculo-dento-digital syndrome, Lactate dehydrogenase deficiency, Lactate dehydrogenase deficiency type A, Lactate dehydrogenase deficiency type B, Lactate dehydrogenase deficiency type C, Lactic acidosis congenital infantile, Ladda Zonana Ramer syndrome, Lafora disease, Lagophthalmia cleft lip palate, Laing distal myopathy, Lambdoid synostosis, Lambert Eaton myasthenic syndrome, Lambert syndrome, Lamellar ichthyosis, Landau-Kleffner syndrome, Landy Donnai syndrome, Langer mesomelic dysplasia, Langer Nishino Yamaguchi syndrome, Langerhans cell histiocytosis, Langerhans cell sarcoma, Laparoschisis, Laplane Fontaine Lagardere syndrome, Large B cell diffuse lymphoma, Large granular lymphocyte leukemia, Laron syndrome, Larsen syndrome, Larsen syndrome  dominant type, Larsen syndrome  recessive type, Larsen-like syndrome, Laryngeal abductor paralysis mental retardation, Laryngeal cancer, Laryngeal cancer childhood, Laryngeal cleft, Laryngeal papillomatosis, Laryngocele, Laryngomalacia, Laryngoonychocutaneous syndrome, Larynx atresia, Larynx  congenital partial atresia of, Lassueur-Graham-Little syndrome, Late acute graft versus host disease, Late-onset congenital adrenal hyperplasia, Lateral body wall defect, Lateral meningocele syndrome, Lateral semicircular canal malformation  familial  with external and middle ear abnormalities, Laterality defects dominant, Lathosterolosis, Lathyrism, Lattice corneal dystrophy type 1, Lattice corneal dystrophy type 3A, Laugier-Hunziker syndrome, Launois-Bensaude adenolipomatosis, Laurence Prosser Rocker syndrome, Laurin-Sandrow syndrome, LCAD deficiency, LCHAD deficiency, Le Marec Bracq Picaud syndrome, Leber congenital amaurosis, Leber congenital amaurosis type 1, Leber congenital amaurosis type 10, Leber congenital amaurosis type 11, Leber congenital amaurosis type 12, Leber congenital amaurosis type 2, Leber congenital amaurosis type 3, Leber congenital amaurosis type 4, Leber congenital amaurosis type 5, Leber congenital amaurosis type 6, Leber congenital amaurosis type 9, Leber hereditary optic neuropathy, Leber hereditary optic neuropathy with dystonia, Leber miliary aneurysm, Ledderhose disease, Left-sided gallbladder, Leg absence deformity cataract, Legg-Calve-Perthes disease, Legionellosis, Legius syndrome, Lehman syndrome, Leichtman Wood Rohn syndrome, Leigh syndrome, Leigh syndrome  French Canadian type, Leiner disease, Leiomyoma of vulva and esophagus, Leiomyomatosis and renal cell cancer  hereditary, Leiomyomatosis familial, Leiomyomatosis of esophagus  cataract and hematuria, Leiomyomatosis  esophageal and vulval  with nephropathy, Leiomyosarcoma, Leishmaniasis, Leisti Hollister Rimoin syndrome, Lelis syndrome, Lemierre syndrome, Lenegre disease, Lentigo maligna melanoma, Lenz Majewski hyperostotic dwarfism, Lenz microphthalmia syndrome, LEOPARD syndrome, Leprechaunism, Leptospirosis, Leri pleonosteosis, Leri Weill dyschondrosteosis, Lesch Nyhan syndrome, Lethal chondrodysplasia Moerman type, Lethal chondrodysplasia Seller type, Lethal congenital contracture syndrome 1, Lethal congenital contracture syndrome 2, Lethal short limb skeletal dysplasia Al Gazali type, Leucine-sensitive hypoglycemia of infancy, Leucocyte adhesion defect, Leukemia subleukemic, Leukemia  B-cell  chronic, Leukemia  Myeloid, Leukemia  T-cell  chronic, Leukocyte adhesion deficiency type 1, Leukodystrophy, Leukodystrophy reunion type, Leukodystrophy with oligodontia, Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia, Leukodystrophy hypomyelinating 3, Leukodystrophy  psuedometachromatic, Leukoencephalopathy palmoplantar keratoderma, Leukoencephalopathy with vanishing white matter, Leukoencephalopathy arthritis colitis and hypogammaglobulinema, Leukoencephalopathy cerebral calcifications and cysts, Leukomalacia, Leukomelanoderma mental redardation hypotrichosis, Leukonychia totalis, Leukoplakia, Levator syndrome, Levic Stefanovic Nikolic syndrome, Levotransposition of the great arteries, Levy-Yeboa syndrome, Lewy body dementia, Leydig cells hypoplasia, Lhermitte-Duclos disease, Li Fraumeni syndrome, Lichen planus follicularis, Lichen planus pigmentosus, Lichen sclerosis, Lichtenstein syndrome, Light chain deposition disease, Limb deficiencies distal with micrognathia, Limb dystonia, Limb reduction defect, Limb scalp and skull defects, Limb transversal defect cardiac anomaly, Limb-body wall complex, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy autosomal dominant, Limb-girdle muscular dystrophy type 2H, Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency, Limb-girdle muscular dystrophy  type 1A, Limb-girdle muscular dystrophy  type 1B, Limb-girdle muscular dystrophy  type 2A, Limb-girdle muscular dystrophy  type 2B, Limb-girdle muscular dystrophy  type 2C, Limb-girdle muscular dystrophy  type 2D, Limb-girdle muscular dystrophy  type 2E, Limb-girdle muscular dystrophy  type 2F, Limb-girdle muscular dystrophy  type 2G, Limb-mammary syndrome, Limbic encephalitis, Lindsay Burn syndrome, Linear hamartoma syndrome, Linear nevus sebaceous syndrome, Linear porokeratosis, Linear scleroderma (subtype), Lip and oral cavity cancer, Lipase deficiency combined, Lipid storage myopathy, Lipidosis with triglycerid storage disease, Lipoamide dehydrogenase deficiency, Lipoatrophy with diabetes  hepatic steatosis  cardiomyopathy  and leukomelanodermic papules, Lipodermatosclerosis, Lipodystrophy, Lipodystrophy  familial partial  type 2, Lipogranulomatosis, Lipoid proteinosis of Urbach and Wiethe, Lipomatosis familial benign cervical, Lipomyelomeningocele, Liposarcoma, Lissencephaly 1, Lissencephaly 2, Lissencephaly syndrome type 1, Lissencephaly X-linked, Lissencephaly  isolated, Listeria infection, Littoral cell angioma of the spleen, Liver cancer, Liver failure acute infantile, Localized epiphyseal dysplasia, Localized scleroderma, Locked-in syndrome, Lockwood Feingold syndrome, Loeys-Dietz syndrome, Loeys-Dietz syndrome type 1A, Loeys-Dietz syndrome type 1B, Loeys-Dietz syndrome type 2A, Loeys-Dietz syndrome type 2B, Logopenic progressive aphasia, Loiasis, Loin pain hematuria syndrome, Long QT syndrome 1, Long QT syndrome 10, Long QT syndrome 11, Long QT syndrome 2, Long QT syndrome 3, Long QT syndrome 4, Long QT syndrome 5, Long QT syndrome 6, Long QT syndrome 8, Long QT syndrome 9, Loose anagen hair syndrome, Lopes Gorlin syndrome, Lowe oculocerebrorenal syndrome, Lower mesodermal defects sequence, Lowry Maclean syndrome, Lowry Wood syndrome, Lubani Al Saleh Teebi syndrome, Lubinsky syndrome, Lubs X-linked mental retardation syndrome, Lucey-Driscoll syndrome, Lujan Fryns syndrome, Lumbar malsegmentation short stature, Lung agenesis, Lupus nephritis, Lutz Richner Landolt syndrome, Lymph node neoplasm, Lymphangiectasis, Lymphangioleiomyomatosis, Lymphangioma, Lymphatic filariasis, Lymphatic neoplasm, Lymphedema and cerebral arteriovenous anomaly, Lymphedema microcephaly and chorioretinopathy syndrome, Lymphedema  congenital, Lymphedema-distichiasis syndrome, Lymphoblastic lymphoma, Lymphocytes absent, Lymphocytic colitis, Lymphocytic hypophysitis, Lymphocytic infiltrate of Jessner, Lymphocytic vasculitis, Lymphogranuloma venereum, Lymphoma AIDSrelated, Lymphoma  gastric non Hodgkins type, Lymphoma  large-cell, Lymphoma  large-cell  immunoblastic, Lymphoma  small cleaved-cell diffuse, Lymphoma  small cleaved-cell  follicular, Lymphomatoid granulomatosis, Lymphomatoid papulosis, Lymphomatous thyroiditis, Lymphoproliferative syndrome X-linked 1, Lymphosarcoma, Lynch Lee Murday syndrome, Lynch syndrome, Lysinuric protein intolerance, Lysteria monocytoigeneses meningitis

Rare Diseases and Disorders – Starting With “M”

Mac Dermot Winter syndrome, Macrocephaly mesodermal hamartoma spectrum, Macrocephaly  benign familial, Macrocephaly  mental retardation  short stature  spastic paraplegia and CNS malformations, Macrocephaly-capillary malformation, Macrodactyly of the foot, Macrodactyly of the hand, Macroepiphyseal dysplasia with osteoporosis  wrinkled skin  and aged appearance, Macroglossia, Macrogyria  pseudobulbar palsy and mental retardation, Macrophagic myofasciitis, Macrosomia with lethal microphthalmia, Macrothrombocytopenia progressive deafness, Macular dystrophy  atypical vitelliform, Macular dystrophy  concentric annular, Macular dystrophy  corneal type 1, Macules hereditary congenital hypopigmented and hyperpigmented, Madelung disease, Madokoro Ohdo Sonoda syndrome, Maffucci syndrome, Mahvash disease, Majeed syndrome, Mal de debarquement, Malakoplakia, Malaria, Male pseudohermaphroditism due to defective LH molecule, Male pseudohermaphroditism/mental retardation syndrome  Verloes type, Malignant cylindroma, Malignant eccrine spiradenoma, Malignant fibrous histiocytoma, Malignant germ cell tumor, Malignant hyperthermia, Malignant hyperthermia arthrogryposis torticollis, Malignant hyperthermia susceptibility type 1, Malignant hyperthermia susceptibility type 2, Malignant hyperthermia susceptibility type 3, Malignant hyperthermia susceptibility type 4, Malignant hyperthermia susceptibility type 5, Malignant hyperthermia susceptibility type 6, Malignant melanoma  childhood, Malignant mesenchymal tumor, Malignant mesothelioma, Malignant mixed Mullerian tumor, Malignant paroxysmal ventricular tachycardia, Malignant Teratocarcinosarcoma, Mallory-Weiss syndrome, Malonyl-CoA decarboxylase deficiency, Malouf syndrome, Malpuech facial clefting syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy, Mandibulofacial dysostosis  Treacher Collins type  autosomal recessive, Mannosidosis  beta A  lysosomal, Manouvrier syndrome, Mansonelliasis, Mantle cell lymphoma, Manz syndrome, Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease type 1B, Maple syrup urine disease type 2, Marburg hemorrhagic fever, Marchiafava Bignami disease, Marcus Gunn phenomenon, Marden Walker like syndrome, Marden-Walker syndrome, Marek disease, Marfan syndrome, Marfan Syndrome type 2, Marfan Syndrome type 3, Marfan Syndrome type 4, Marfan Syndrome type 5, Marfanoid hypermobility syndrome, Marfanoid mental retardation syndrome autosomal, Marginal glioneuronal heterotopia, Marie type ataxia, Marie Unna congenital hypotrichosis, Marinesco-Sjogren syndrome, Marinesco-Sjogren-like syndrome (MSLS), Markel Vikkula Mulliken syndrome, Marles Greenberg Persaud syndrome, Maroteaux Fonfria syndrome, Maroteaux Stanescu Cousin syndrome, Maroteaux Verloes Stanescu syndrome, Marphanoid syndrome type De Silva, Marsden Nyhan Sakati syndrome, Marshall syndrome, Marshall-Smith syndrome, Martinez Monasterio Pinheiro syndrome, Martsolf syndrome, MASS syndrome, Massa Casaer Ceulemans syndrome, Mastocytic enterocolitis, Mastocytosis, Mastocytosis cutaneous with short stature conductive hearing loss and microtia, Mastroiacovo De Rosa Satta syndrome, Mastroiacovo Gambi Segni syndrome, Maternal hyperphenylalaninemia, Maternally inherited Leigh syndrome, Mathieu De Broca Bony syndrome, Matsoukas Liarikos Giannika syndrome, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young  type 1, Maturity-onset diabetes of the young  type 2, Maturity-onset diabetes of the young  type 3, Maturity-onset diabetes of the young  type 4, Maturity-onset diabetes of the young  type 5, Maturity-onset diabetes of the young  type 6, Maturity-onset diabetes of the young  type 7, Maturity-onset diabetes of the young  type 8, Maturity-onset diabetes of the young  type 9, Maumenee syndrome, Maxillary double lip, Maxillofacial dysostosis, Maxillonasal dysplasia  Binder type, Mayer-Rokitansky-Kuster-Hauser syndrome, McAlister Crane syndrome, McCallum Macadam Johnston syndrome, McCune Albright syndrome, McDonough syndrome, McDowall syndrome, McGillivray syndrome, McKusick Kaufman syndrome, McLeod neuroacanthocytosis syndrome, McPherson Clemens syndrome, McPherson Robertson Cammarano syndrome, Meacham Winn Culler syndrome, Meadows syndrome, Measles, Meckel syndrome type 2, Meckel syndrome type 3, Meckel syndrome type1, Meconium aspiration syndrome, Medeira Dennis Donnai syndrome, Medial Medullary Syndrome, Median cleft of upper lip with polyps of facial skin and nasal mucosa, Median nodule of the upper lip, Mediastinal endodermal sinus tumors, Medium-chain 3-ketoacyl-coa thiolase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medrano Roldan syndrome, Medullary cystic kidney disease, Medullary cystic kidney disease 1, Medullary cystic kidney disease 2, Medullary sponge kidney, Medulloblastoma, Medulloblastoma  childhood, Meesmann corneal dystrophy, Megacystis microcolon intestinal hypoperistalsis syndrome, Megaduodenum and/or megacystis, Megaepiphyseal dwarfism, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephaly  polymicrogyria  and hydrocephalus (MPPH) syndrome, Megalocornea mental retardation syndrome, Megalocytic interstitial nephritis, Megarbane Jalkh syndrome, Megarbane syndrome, Mehes syndrome, Mehta Lewis Patton syndrome, Meier Blumberg Imahorn syndrome, Meier-Gorlin syndrome, Meige syndrome, Meigel disease, Meinecke syndrome, Melanocytic lesions of CNS, Melanoma astrocytoma syndrome, Melanoma  familial, Meleda disease, Melhem Fahl syndrome, Meliodosis, Melkersson-Rosenthal syndrome, Melnick-Needles syndrome, Melorheostosis, Membranoproliferative glomerulonephritis type 2, Membranous nephropathy, Menetrier disease, Mengel Konigsmark syndrome, Meningioma, Meningioma spinal, Meningocele, Meningococcal infection, Meningococcemia, Meningoencephalocele, Menkes disease, Mental deficiency-epilepsy-endocrine disorders, Mental retardation anophthalmia craniosynostosis, Mental retardation arachnodactyly hypotonia telangiectasia, Mental retardation athetosis microphthalmia, Mental retardation blepharophimosis obesity web neck, Mental retardation cataracts calcified pinnae myopathy, Mental retardation coloboma slimness, Mental retardation dysmorphism hypogonadism diabetes, Mental retardation epilepsy, Mental retardation epilepsy bulbous nose, Mental retardation gynecomastia obesity X-linked, Mental retardation hip luxation G6PD variant, Mental retardation hypocupremia hypobetalipoproteinemia, Mental retardation hypotonia skin hyperpigmentation, Mental retardation macrocephaly coarse facies hypotonia, Mental retardation microcephaly phalangeal facial, Mental retardation microcephaly unusual facies, Mental retardation Mietens Weber type, Mental retardation progressive spasticity, Mental retardation psychosis macroorchidism, Mental retardation short stature Bombay phenotype, Mental retardation short stature cleft palate unusual facies, Mental retardation short stature deafness genital, Mental retardation short stature hand contractures genital anomalies, Mental retardation short stature heart and skeletal anomalies, Mental retardation short stature hypertelorism, Mental retardation short stature microcephaly eye, Mental retardation short stature ocular and articular anomalies, Mental retardation short stature scoliosis, Mental retardation short stature unusual facies, Mental retardation skeletal dysplasia abducens palsy, Mental retardation Smith Fineman Myers type, Mental retardation spasticity ectrodactyly, Mental retardation syndrome  Belgian type, Mental retardation unusual facies, Mental retardation unusual facies talipes hand anomalies, Mental retardation Wolff type, Mental retardation X-linked borderline Maoa metabolism anomaly, Mental retardation X-linked Brunner type, Mental retardation X-linked dysmorphism, Mental retardation X-linked dystonia dysarthria, Mental retardation X-linked short stature obesity, Mental retardation X-linked syndromic 11, Mental retardation X-linked syndromic 7, Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance, Mental retardation X-linked South African type, Mental retardation epileptic seizures  hypogonadism and hypogenitalism  microcephaly and obesity, Mental retardation keratoconus  febrile seizures and sinoatrial block, Mental retardation macrocephaly short stature and craniofacial dysmorphism, Mental retardation  X-linked 14, Mental retardation X-linked  nonspecific, Mental retardation-hypotonic facies syndrome X-linked 1, Mental retardation-polydactyly-uncombable hair, Meralgia paresthetica, Mercury poisoning, Meretoja syndrome, Merkel cell carcinoma, Merlob Grunebaum Reisner syndrome, Merlob syndrome, Mesangial proliferative glomerulonephritis, Mesangial sclerosis diffuse, Mesenteric artery ischemia, Mesomelia, Mesomelia-synostoses syndrome, Mesomelic dwarfism cleft palate camptodactyly, Mesomelic dwarfism of hypoplastic tibia and radius type, Mesomelic dysplasia Kantaputra type, Mesomelic dysplasia Savarirayan type, Mesomelic dysplasia skin dimples, Mesomelic syndrome Pfeiffer type, Metacarpals 4 and 5 fusion, Metachondromatosis, Metachromatic leukodystrophy MLD, Metachromatic leukodystrophy due to saposin B deficiency, Metagonimiasis, Metaphyseal acroscyphodysplasia, Metaphyseal anadysplasia, Metaphyseal chondrodysplasia Schmid type, Metaphyseal chondrodysplasia Spahr type, Metaphyseal chondrodysplasia with cone-shaped epiphyses normal hair and normal hands, Metaphyseal chondrodysplasia others, Metaphyseal dysostosis mental retardation conductive deafness, Metaphyseal dysplasia maxillary hypoplasia brachydactyly, Metaphyseal dysplasia without hypotrichosis, Metaphyseal undermodeling  spondylar dysplasia  and overgrowth, Metaplastic carcinoma of the breast, Metastatic insulinoma, Metastatic squamous neck cancer with occult primary, Metatropic dwarfism, Methimazole antenatal infection, Methionine adenosyltransferase deficiency, Methyl mercury antenatal infection, Methylcobalamin deficiency cbl G type, Methylcobalamin deficiency cbl E complementation type, Methylmalonic acidemia, Methylmalonic acidemia with homocystinuria, Methylmalonic aciduria cblA type, Methylmalonic aciduria cblB type, Methylmalonic aciduria microcephaly cataract, Methylmalonicacidemia with homocystinuria cbl d, Methylmalonicaciduria with homocystinuria cbl f, Methylmalonyl-Coenzyme A mutase deficiency, Mevalonic aciduria, MHC class 1 deficiency, Michelin tire baby syndrome, Michels Caskey syndrome, Michels syndrome, Mickleson syndrome, Micrencephaly corpus callosum agenesis, Microbrachycephaly ptosis cleft lip, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 2, Microcephalic osteodysplastic primordial dwarfism type 3, Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities, Microcephalic primordial dwarfism Toriello type, Microcephaly, Microcephaly albinism digital anomalies syndrome, Microcephaly autosomal dominant, Microcephaly brachydactyly kyphoscoliosis, Microcephaly brain defect spasticity hypernatremia, Microcephaly cardiac defect lung malsegmentation, Microcephaly cardiomyopathy, Microcephaly cervical spine fusion anomalies, Microcephaly chorioretinopathy recessive form, Microcephaly deafness syndrome, Microcephaly developmental delay pancytopenia, Microcephaly glomerulonephritis Marfanoid habitus, Microcephaly hypergonadotropic hypogonadism short stature, Microcephaly immunodeficiency lymphoreticuloma, Microcephaly mental retardation retinopathy, Microcephaly mental retardation spasticity epilepsy, Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome, Microcephaly microcornea syndrome Seemanova type, Microcephaly micropenis convulsions, Microcephaly microphthalmos blindness, Microcephaly nonsyndromal, Microcephaly pontocerebellar hypoplasia dyskinesia, Microcephaly seizures mental retardation heart disorders, Microcephaly sparse hair mental retardation seizures, Microcephaly with chorioretinopathy  autosomal dominant form, Microcephaly with normal intelligence  immunodeficiency, Microcephaly with spastic quadriplegia, Microcephaly  corpus callosum dysgenesis and cleft lip-palate, Microcephaly hiatal hernia and nephrotic syndrome, Microcephaly  holoprosencephaly and intrauterine growth retardation, Microcephaly  primary autosomal recessive, Microcoria congenital, Microcornea corectopia macular hypoplasia, Microcornea glaucoma and absent frontal sinuses, Microcystic adnexal carcinoma, Microdeletion 15q11.2, Microdontia hypodontia short stature, Microencephaly, Microgastria limb reduction defect, Microhydranencephaly, Micromelic bone dysplasia with cloverleaf skull, Microphthalmia associated with colobomatous cyst, Microphthalmia camptodactyly mental retardation, Microphthalmia cataract, Microphthalmia diaphragmatic hernia Fallot, Microphthalmia mental deficiency, Microphthalmia microtia fetal akinesia, Microphthalmia syndromic 10, Microphthalmia syndromic 3, Microphthalmia syndromic 4, Microphthalmia syndromic 5, Microphthalmia syndromic 6, Microphthalmia syndromic 7, Microphthalmia syndromic 8, Microphthalmia syndromic 9, Microphthalmia  isolated  with corectopia, Microscopic polyangiitis, Microsomia hemifacial radial defects, Microspherophakia with hernia, Microsporidiosis, Microtia eye coloboma and imperforation of the nasolacrimal duct, Microtia  meatal atresia and conductive deafness, Microtia-Anotia, Microvillus inclusion disease, Midline cleft of lower lip, Midline developmental field defects, Midline field defects, Midline lethal granuloma, Midphalangeal hair, Mikulicz disease, Miles-Carpenter x-linked mental retardation syndrome, Miller Fisher syndrome, Miller-Dieker syndrome, Milner Khallouf Gibson syndrome, Milroy disease, Minicore myopathy with external ophthalmoplegia, Minicore myopathy  antenatal onset  with arthrogryposis, Minimal change disease, Mirizzi syndrome, Mirror polydactyly segmentation and limbs defects, Mitochondrial complex I deficiency, Mitochondrial complex II deficiency, Mitochondrial complex III deficiency, Mitochondrial complex IV deficiency, Mitochondrial complex V deficiency, Mitochondrial disease with severe hypotonia  lactic acidaemia and hyperammonemia, Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, Mitochondrial genetic disorders, Mitochondrial myopathy with diabetes, Mitochondrial myopathy with lactic acidosis, Mitochondrial neurogastrointestinal encephalopathy syndrome, Mitochondrial trifunctional protein deficiency, Mitral atresia, Mitral regurgitation deafness skeletal anomalies, Mitral valve prolapse familial autosomal dominant, Mitral valve prolapse familial  X-linked, Miura syndrome, Mixed connective tissue disease, Mixed sclerosing bone dystrophy, Miyoshi myopathy, Moebius axonal neuropathy hypogonadism, Moebius syndrome, Mohr-Tranebjaerg syndrome, Moloney syndrome, Molybdenum cofactor deficiency, MOMO syndrome, Mondini Dysplasia, Mondor’s disease, Monilethrix, Monkeypox, Monoamine oxidase A deficiency, Monoclonal gammopathy of undetermined significance, Monodactyly tetramelic, Monomelic amyotrophy, Mononeuritis multiplex, Montefiore syndrome, Morel’s ear, Morgagni-Stewart-Morel syndrome, Morgellons, Morillo-Cucci Passarge syndrome, MORM syndrome, Morphea, Morquio syndrome A, Morquio syndrome B, Morquio syndrome C, Morse Rawnsley Sargent syndrome, Morvan’s fibrillary chorea, Mosaic trisomy 8, Mosaic trisomy 9, Mosaic variegated aneuploidy syndrome, Motor neuro-ophthalmic disorders, Motor neuropathy peripheral with dysautonomia, Motor sensory neuropathy type 1 aplasia cutis congenita, Mounier-Kuhn syndrome, Mousa Al din Al Nassar syndrome, Mowat-Wilson syndrome, Moyamoya disease, MSBD syndrome, Muckle-Wells syndrome, Mucoepidermoid carcinoma, Mucolipidosis type 3A, Mucolipidosis type 4, Mucopolysaccharidosis, Mucopolysaccharidosis type I, Mucopolysaccharidosis type II, Mucopolysaccharidosis type III, Mucopolysaccharidosis type IIIA, Mucopolysaccharidosis type IIIB, Mucopolysaccharidosis type IIIC, Mucopolysaccharidosis type IIID, Mucopolysaccharidosis type VI, Mucopolysaccharidosis type VII, Muenke Syndrome, Muir-Torre syndrome, Mulibrey Nanism, Muller Barth Menger syndrome, Mullerian agenesis, Mullerian aplasia, Mullerian derivatives persistent, Mullerian duct abnormalities galactosemia, Mulliez Roux Loterman syndrome, Multicentric Castleman’s Disease, Multicentric osteolysis nephropathy, Multicentric reticulohistiocytosis, Multicore disease, Multicystic renal dysplasia  bilateral, Multifocal choroiditis, Multifocal fibrosclerosis, Multifocal heterotopia, Multifocal lymphangioendotheliomatosis with thrombocytopenia, Multifocal motor neuropathy with conduction block, Multifocal ventricular premature beats, Multinodular goiter cystic kidney polydactyly, Multiple carboxylase deficiency  biotin responsive, Multiple carboxylase deficiency  late onset, Multiple carboxylase deficiency  propionic acidemia, Multiple congenital anomalies mental retardation  growth failure and cleft lip palate, Multiple congenital contractures, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia 1, Multiple epiphyseal dysplasia 2, Multiple epiphyseal dysplasia 3, Multiple epiphyseal dysplasia 4, Multiple epiphyseal dysplasia 5, Multiple fibrofolliculoma familial, Multiple joint dislocations metaphyseal dysplasia, Multiple myeloma, Multiple pterygium syndrome Aslan type, Multiple pterygium syndrome Escobar type, Multiple pterygium syndrome lethal type, Multiple pterygium syndrome X-linked, Multiple respiratory chain enzyme deficiencies, Multiple self healing squamous epithelioma, Multiple sulfatase deficiency, Multiple synostoses syndrome 1, Multiple synostoses syndrome 2, Multiple system atrophy, Multiple system atrophy (MSA) with orthostatic hypotension, Multiple vertebral anomalies unusual facies, Mumps, Munchausen by proxy syndrome, Mungan syndrome, MURCS association, Muscle eye brain disease, Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus, Muscular dystrophy, Muscular Dystrophy – Late Onset, Muscular dystrophy congenital  merosin negative, Muscular dystrophy limb girdle type 2A  Erb type, Muscular dystrophy white matter spongiosis, Muscular dystrophy  congenital  infantile with cataract and hypogonadism, Muscular dystrophy  congenital  megaconial type, Muscular dystrophy  congenital  merosin-positive, Muscular fibrosis multifocal obstructed vessels, Muscular phosphorylase kinase deficiency, Mutagen sensitivity, Mutiple parosteal osteochondromatous proliferations, Myalgia eosinophilia associated with tryptophan, Myasthenia gravis, Myasthenia gravis congenital, Myasthenia  familial, Myasthenia  familial limb-girdle, Myasthenic syndrome  congenital  associated with acetylcholine receptor deficiency, Myasthenic syndrome  congenital  slow-channel, Mycetoma, Mycobacterium Abscessus, Mycobacterium Avium Complex, Mycobacterium Chelonae, Mycobacterium fortuitum, Mycobacterium Gordonae, Mycobacterium Kansasii, Mycobacterium Malmoense, Mycobacterium Marinum, Mycobacterium tuberculosis  susceptibility to infection by, Mycobacterium Xenopi, Mycoplasmal pneumonia, Mycosis fungoides, Myelitis, Myelocerebellar disorder, Myelocytic leukemia-like syndrome  familial  chronic, Myelodysplastic syndromes, Myelodysplastic/myeloproliferative disease, Myelofibrosis, Myeloid sarcoma, Myeloid splenomegaly, Myelomeningocele, Myeloperoxidase deficiency, MYH-associated polyposis, MYH9 related thrombocytopenia, Myhre Ruvalcaba Graham syndrome, Myhre Ruvalcaba Kelley syndrome, Myhre School syndrome, Myocarditis, Myoclonus ataxia, Myoclonus cerebellar ataxia deafness, Myoclonus epilepsy, Myoclonus epilepsy partial seizure, Myoclonus hereditary progressive distal muscular atrophy, Myoclonus with epilepsy with ragged red fibers, Myoepithelial carcinoma, Myofibrillar lysis, Myofibrillar myopathy, Myoglobinuria dominant form, Myoglobinuria recurrent, Myokymia with neonatal epilepsy, Myopathic carnitine deficiency, Myopathy cataract hypogonadism, Myopathy congenital, Myopathy congenital multicore with external ophthalmoplegia, Myopathy growth and mental retardation hypospadias, Myopathy mitochondrial cataract, Myopathy ophthalmoplegia hypoacousia areflexia, Myopathy with lysis of myofibrils, Myopathy limb-girdle with bone fragility, Myopathy  mitochondrial progressive with congenital cataract hearing loss and developmental delay, Myopathy tubular aggregate, Myopathy X-linked with excessive autophagy, Myopia 6, Myostatin-related muscle hypertrophy, Myotonia atrophica, Myotonia congenita autosomal dominant, Myotonia congenita autosomal recessive, Myotonia mental retardation skeletal anomalies, Myotonic dystrophy, Myotonic dystrophy type 1, Myotonic dystrophy type 2, Myotubular myopathy, Myxoid liposarcoma, Myxoma-spotty pigmentation-endocrine overactivity, Myxomatous peritonitis, Myxopapillary ependymoma, Myxozoa

Rare Diseases and Disorders – Starting With “N”

N acetyltransferase deficiency, N syndrome, N-acetyl glucosamine 6-sulfate sulfatase deficiency, N-acetyl-alpha-D-galactosaminidase deficiency type III, N-acetylglutamate synthetase deficiency, Nablus mask-like facial syndrome, NADH cytochrome B5 reductase deficiency, Naegeli syndrome, Nager acrofacial dysostosis, Naguib-Richieri-Costa syndrome, Nail dysplasia  isolated congenital, Nail patella syndrome, Nakajo syndrome, Nakamura Osame syndrome, Nance-Horan syndrome, Narcolepsy, Narrow oral fissure short stature cone shaped epiphyses, Nasal cavity cancer childhood, Nasal polyposis  familial, Nasodigitoacoustic syndrome, Nasopalpebral lipoma coloboma syndrome, Nasopharyngeal cancer  childhood, Nasopharyngeal carcinoma, Natal teeth  intestinal pseudoobstruction and patent ductus, Nathalie syndrome, Native American myopathy, Navajo neurohepatopathy, Navajo poikiloderma, Naxos disease, Necrotizing enterocolitis, Necrotizing fasciitis, Negative rheumatoid factor polyarthritis, Neisseria meningitidis, Nelson syndrome, Nemaline myopathy 1, Nemaline myopathy 2, Nemaline myopathy 3, Nemaline myopathy 4, Nemaline myopathy 5, Nemaline myopathy 6, NEMO mutation with immunodeficiency, Neonatal adrenoleukodystrophy, Neonatal hemochromatosis, Neonatal herpes, Neonatal hypothyroidism, Neonatal intrahepatic cholestasis caused by citrin deficiency, Neonatal meningitis, Neonatal ovarian cyst, Neonatal progeroid syndrome, Neonatal stroke, Neonatal systemic lupus erythematosus, Nephrocalcinosis, Nephrogenic diabetes insipidus, Nephrogenic Systemic Fibrosis, Nephronophthisis 1, Nephronophthisis familial adult spastic quadriparesis, Nephropathic cystinosis, Nephropathy deafness hyperparathyroidism, Nephropathy familial with hyperuricemia, Nephrosclerosis, Nephrosis deafness urinary tract digital malformation, Nephrotic syndrome ocular anomalies, Nephrotic syndrome  idiopathic  steroid-resistant, Nerve sheath neoplasm, Netherton syndrome, Neu Laxova syndrome, Neuhauser Daly Magnelli syndrome, Neuhauser Eichner Opitz syndrome, Neural crest tumor, Neuroaxonal dystrophy renal tubular acidosis, Neuroaxonal dystrophy  infantile, Neuroblastoma, Neurocutaneous melanosis, Neuroectodermal endocrine syndrome, Neuroendocrine carcinoma of the cervix, Neuroepithelioma, Neurofaciodigitorenal syndrome, Neuroferritinopathy, Neurofibroma, Neurofibromatosis, Neurofibromatosis type 1, Neurofibromatosis type 2, Neurofibromatosis type 3A, Neurofibromatosis type 3B, Neurofibromatosis type 4, Neurofibromatosis type 5, Neurofibromatosis type 6, Neurofibromatosis-Noonan syndrome, Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome, Neurofibrosarcoma, Neurogenic diabetes insipidus, Neurogenic hypertension, Neuroleptic malignant syndrome, Neuroma biliary tract, Neuromyelitis optica spectrum disorder, Neuronal ceroid lipofuscinoses, Neuronal interstitial dysplasia, Neuronal intranuclear inclusion disease, Neuropathy ataxia retinitis pigmentosa syndrome, Neuropathy hereditary sensory and autonomic type 1, Neuropathy motor sensory type 2 deafness mental retardation, Neuropathy sensory spastic paraplegia, Neuropathy  congenital with arthrogryposis multiplex, Neuropathy  distal hereditary motor Jerash type, Neuropathy hereditary motor and sensory  LOM type, Neuropathy hereditary motor and sensory  Okinawa type, Neuropathy  hereditary motor and sensory Russe type, Neurosyphilis, Neurotoxicity syndromes, Neutral lipid storage disease with myopathy, Neutropenia chronic familial, Neutropenia lethal congenital with eosinophilia, Neutropenia monocytopenia deafness, Neutrophil-specific granule deficiency, Neutrophilic dermatosis  acute febrile, Nevi flammei  familial multiple, Nevo syndrome, Nevoid basal cell carcinoma syndrome, New daily-persistent headache, Nguyen syndrome, Nicolaides Baraitser syndrome, Niemann-Pick disease, Niemann-Pick disease type B, Niemann-Pick disease type C1, Niemann-Pick disease type C2, Niemann-Pick disease type D, Nievergelt syndrome, Night blindness skeletal anomalies unusual facies, Night blindness congenital stationary, Nijmegen breakage syndrome, Nipah virus encephalitis, Noble Bass Sherman syndrome, Nocardiosis, Nodular melanoma, Nodular nonsuppurative panniculitis, Noma, Non functioning pancreatic endocrine tumor, Non-alcoholic steatohepatitis (NASH), Non-dystrophic myotonic disorders, Non-Hodgkin lymphoma  childhood, Non-Hodgkin lymphoma  during pregnancy, Non-lissencephalic cortical dysplasia, Non-small cell lung cancer, Non-small cell lung cancer childhood, Nonaka myopathy, Nondystrophic myotonia, Nonmedullary thyroid carcinoma  with or without cell oxyphilia, Nonseminomatous germ cell tumor, Nonsyndromic hereditary sensorineural hearing loss, Noonan syndrome 1, Noonan syndrome 2, Noonan syndrome 3, Noonan syndrome 4, Noonan syndrome 5, Noonan syndrome 6, Noonan-like syndrome with loose anagen hair, Noonan-like/multiple giant cell lesion syndrome, Normokalemic periodic paralysis, Norrie disease, North Carolina macular dystrophy, Norum disease, Notalgia paresthetica, Nova syndrome, Novak syndrome, Nuchal bleb familial, Nystagmus 1 congenital X- linked, Nystagmus 2 congenital  autosomal dominant, Nystagmus 3 congenital  autosomal dominant, Nystagmus 4 congenital  autosomal dominant, Nystagmus congenital motor autosomal recessive, Nystagmus hereditary vertical, Nystagmus myoclonic

Rare Diseases and Disorders – Starting With “O”

O Donnell Pappas syndrome, Occipital horn syndrome, Occult spinal dysraphism, Ochoa syndrome, Ochronosis, Ocular albinism type 1, Ocular cicatricial pemphigoid, Ocular coloboma-imperforate anus, Ocular colobomas  ichthyosis  brain malformations and endocrine abnormalities, Ocular melanoma, Ocular motility disorders, Ocular Muscular Dystrophy, Ocular toxoplasmosis, Oculo cerebral dysplasia, Oculo cerebro acral syndrome, Oculo cerebro osseous syndrome, Oculo digital syndrome, Oculo skeletal renal syndrome, Oculo tricho anal syndrome, Oculo-gastrointestinal muscular dystrophy, Oculoauriculofrontonasal syndrome, Oculocerebral hypopigmentation syndrome type Preus, Oculocerebral syndrome with hypopigmentation, Oculocerebrocutaneous syndrome, Oculocerebrorenal syndrome, Oculocutaneous albinism type 1, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculodentodigital dysplasia, Oculodentodigital dysplasia dominant, Oculodentoosseous dysplasia dominant, Oculodentoosseous dysplasia recessive, Oculodigitoesophagoduodenal syndrome, Oculoectodermal syndrome, Oculofaciocardiodental syndrome, Oculomaxillofacial dysostosis, Oculomelic amyoplasia, Oculomotor apraxia Cogan type, Oculootofacial dysplasia, Oculopharyngeal muscular dystrophy, Oculorenocerebellar syndrome, Odonto onycho dysplasia with alopecia, Odontogenic myxoma, Odontoma, Odontoma dysphagia syndrome, Odontomicronychial dysplasia, Odontoonychodermal dysplasia, Ogilvie syndrome, Oguchi disease, Ohtahara syndrome, Okamuto Satomura syndrome, Oligoastrocytoma, Oligodactyly tetramelic postaxial, Oligodendroglioma, Oligomeganephronic renal hypoplasia, Oligomeganephrony, Oliver McFarlane syndrome, Oliver syndrome, Olivopontocerebellar atrophy, Olivopontocerebellar atrophy deafness, Ollier disease, Olmsted syndrome, Omenn syndrome, Omodysplasia 1, Omodysplasia 2, Omphalocele cleft palate syndrome lethal, Omphalocele exstrophy imperforate anus, Omphalomesenteric cyst, Omsk hemorrhagic fever, Onchocerciasis, Oncocytoma renal, Oncogenic osteomalacia, Onychotrichodysplasia and neutropenia, Ophthalmoplegic Muscular dystrophy, Opisthorchiasis, Opitz G/BBB syndrome, Opitz Reynolds Fitzgerald syndrome, Opsismodysplasia, Opthalmic icthyosis, Opthalmo acromelic syndrome, Opthalmomandibulomelic dysplasia, Opthalmoplegia mental retardation lingua scrotalis, Opthalmoplegia myalgia tubular aggregates, Opthalmoplegia progressive external scoliosis, Optic atrophy 1, Optic atrophy 1 and deafness, Optic atrophy 2, Optic atrophy 5, Optic atrophy 6, Optic atrophy and cataract autosomal dominant, Optic atrophy opthalmoplegia ptosis deafness myopia, Optic atrophy polyneuropathy deafness, Optic atrophy hearing loss  and peripheral neuropathy  autosomal dominant, Optic nerve hypoplasia  familial bilateral, Optic neuritis, Optic neuropathy  anterior ischemic, Optic pathway glioma, Opticoacoustic nerve atrophy dementia, Oral cancer, Oral leukoplakia, Oral lichen planus, Oral pharyngeal disorders, Oral squamous cell carcinoma, Oral submucous fibrosis, Oral-facial cleft, Orbital lymphangioma, Orbital lymphoma, Orbital melanoma, Organic acidemia, Organic mood syndrome, Ornithine aminotransferase deficiency, Ornithine transcarbamylase deficiency, Ornithine translocase deficiency syndrome, Ornithinemia, Oro acral syndrome, Orofaciodigital syndrome 1, Orofaciodigital syndrome 10, Orofaciodigital syndrome 11, Orofaciodigital syndrome 12, Orofaciodigital syndrome 13, Orofaciodigital syndrome 2, Orofaciodigital syndrome 3, Orofaciodigital syndrome 4, Orofaciodigital syndrome 5, Orofaciodigital syndrome 6, Orofaciodigital syndrome 8, Orofaciodigital syndrome 9, Orofaciodigital syndromes, Oropharyngeal cancer  adult, Oropharyngeal cancer  childhood, Orotic aciduria type 1, Orotidylic decarboxylase deficiency, Orstavik Lindemann Solberg syndrome, Orthostatic intolerance, Oslam syndrome, OSMED Syndrome, Ossicular Malformations familial, Ossification of the posterior longitudinal ligament of the spine, Osteoarthropathy of fingers familial, Osteochondritis dissecans, Osteochondrodysplasia thrombocytopenia hydrocephalus, Osteochondroma, Osteodysplasia familial Anderson type, Osteodysplastic dwarfism Corsello type, Osteodysplasty precocious of Danks Mayne and Kozlowski, Osteoectasia familial, Osteogenesis imperfecta, Osteogenesis imperfecta congenita microcephaly and cataracts, Osteogenesis imperfecta Levin type, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 1A, Osteogenesis imperfecta type 2A, Osteogenesis imperfecta type 2B, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 9, Osteoglophonic dysplasia, Osteolysis syndrome recessive, Osteomalacia, Osteomyelitis, Osteonecrosis, Osteopathia striata cranial sclerosis, Osteopathia striata with pigmentary dermopathy including white forelock, Osteopenia and sparse hair, Osteopetroses, Osteopetrosis and infantile neuroaxonal dystrophy, Osteopetrosis autosomal dominant type 1, Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 1, Osteopetrosis autosomal recessive 2, Osteopetrosis autosomal recessive 3, Osteopetrosis autosomal recessive 4, Osteopetrosis autosomal recessive 5, Osteopetrosis autosomal recessive 6, Osteopetrosis autosomal recessive 7, Osteopoikilosis, Osteopoikilosis and dacryocystitis, Osteoporosis macrocephaly mental retardation blindness, Osteoporosis oculocutaneous hypopigmentation syndrome, Osteoporosis-pseudoglioma syndrome, Osteosarcoma, Osteosclerosis abnormalities of nervous system and meninges, Osteosclerosis autosomal dominant Worth type, Osteosclerosis with ichthyosis and premature ovarian failure, Ota Kawamura Ito syndrome, Oto-Palatal-digital syndrome, Oto-palato-digital syndrome type 1, Oto-palato-digital syndrome type 2, Otodental dysplasia, Otofaciocervical syndrome, Otoonychoperoneal syndrome, Otosclerosis  familial, Ouvrier Billson syndrome, Ovarian cancer, Ovarian cancer  childhood, Ovarian carcinosarcoma, Ovarian epithelial cancer, Ovarian germ cell tumor, Ovarian insufficiency due to FSH resistance, Ovarian insufficiency  familial, Ovarian low malignant potential tumor, Ovarian remnant syndrome, Ovarian small cell carcinoma, Overgrowth radial ray defect arthrogryposis, Overgrowth syndrome type Fryer, Oxalosis

Rare Diseases and Disorders – Starting With “P”

Pachydermoperiostosis, Pachygyria, Pachygyria with mental retardation and seizures, Pachygyria  frontotemporal, Pachyonychia congenita, Pachyonychia congenita type 1, Pachyonychia congenita type 2, Pacman dysplasia, Paget disease of bone familial, Paget disease of the breast, Paget disease extramammary, Paget disease  juvenile, PAGOD syndrome, Pagon Stephan syndrome, Paine syndrome, Palant cleft palate syndrome, Palatopharyngeal incompetence, Pallidopyramidal syndrome, Pallister W syndrome, Pallister-Hall syndrome, Pallister-Killian mosaic syndrome, Palmer Pagon syndrome, Palmoplantar keratoderma, Palmoplantar keratoderma of Sybert, Palmoplantar keratoderma epidermolytic, Pancreatic adenoma, Pancreatic beta cell agenesis with neonatal diabetes mellitus, Pancreatic cancer, Pancreatic cancer  childhood, Pancreatic carcinoma  familial, Pancreatic islet cell tumors, Pancreatic lipomatosis duodenal stenosis, Pancreatitis pediatric, Pancreatoblastoma, PANDAS, Panhypopituitarism X-linked, Panostotic fibrous dysplasia, Pantothenate kinase-associated neurodegeneration, Panuveitis, Papillary cystadenocarcinoma, Papillary eccrine adenoma, Papillary renal cell carcinoma, Papilledema, Papillon Lefevre syndrome, Papillorenal syndrome, Papular mucinosis, Papular urticaria, Paracoccidioidomycosis, Paraganglioma and gastric stromal sarcoma, Paragangliomas 1, Paragangliomas 2, Paragangliomas 3, Paragangliomas 4, Paragonimiasis, Parainfluenza virus type 3, Paralysis agitans  juvenile of Hunt, Paramyotonia congenita, Paranasal sinus cancer  adult, Paranasal sinus cancer  childhood, Paraneoplastic cerebellar degeneration, Paraneoplastic Neurologic Disorders, Paraomphalocele, Paraplegia, Parapsoriasis, Paraquat lung, Parastremmatic dwarfism, Parathyroid cancer  childhood, Parathyroid carcinoma, PARC syndrome, Parenchymatous cortical degeneration of cerebellum, Paris-Trousseau thrombocytopenia, Parkes Weber syndrome, Parkinson disease 3, Parkinson disease 9, Parkinson disease juvenile  autosomal recessive, Parkinsonism early onset with mental retardation, Paroxysmal cold hemoglobinuria, Paroxysmal hemicrania, Paroxysmal nocturnal hemoglobinuria, Paroxysmal ventricular fibrillation, Pars planitis, Parsonage Turner syndrome, Partial agenesis of corpus callosum, Partial atrioventricular canal, Partial deletion of Y, Partial lissencephaly, Partington Anderson syndrome, Partington X-linked mental retardation syndrome, Parvovirus antenatal infection, Pashayan syndrome, Passos-Bueno syndrome, Pasteurella multocida infection, Patel Bixler syndrome, Patella aplasia  coxa vara  tarsal synostosis, Patella hypoplasia mental retardation, Patent ductus arteriosus, Patent ductus venosus, Patterned dystrophy of retinal pigment epithelium, Patterson pseudoleprechaunism syndrome, Patterson Stevenson syndrome, Pauciarticular chronic arthritis, Pearson marrow-pancreas syndrome, Pectus carinatum, Pediatric Crohns disease, Pediatric multiple sclerosis, Pediatric T-cell leukemia, Pediatric ulcerative colitis, Peeling skin syndrome, PEHO syndrome, Pelger-Huet anomaly, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease  late-onset type, Pellagra, Pellagra like syndrome, Pelvic dysplasia arthrogryposis of lower limbs, Pelvic lipomatosis, Pemphigoid gestationis, Pemphigus, Pemphigus and fogo selvagem, Pemphigus foliaceus, Pemphigus vulgaris, Pemphigus vulgaris  familial, Pena Shokeir syndrome  type 1, Pendred syndrome, Penile cancer  adult, Penile cancer  childhood, Penis agenesis, Penoscrotal transposition, Pentalogy of Cantrell, Pentosuria, Penttinen-Aula syndrome, PEPCK 1 deficiency, PEPCK 2 deficiency, Peptidic growth factors deficiency, Periarteritis nodosa, Pericardium absent mental retardation short stature, Perilymphatic fistula, Perimyositis, Periodic fever aphthous stomatitis pharyngitis and adenitis, Periodic fever familial autosomal dominant, Peripartum cardiomyopathy, Peripheral T-cell lymphoma, Peripheral type neurofibromatosis, Periventricular leukomalacia, Permanent neonatal diabetes mellitus, Perniosis, Peroxisome biogenesis disorders, Perry syndrome, Persistent hyperinsulinemic hypoglycemia of infancy, Persistent Mullerian duct syndrome, Persistent truncus arteriosus, Peters anomaly, Peters plus syndrome, Petit Fryns syndrome, Peutz Jeghers syndrome, Peyronie disease, Pfeiffer Kapferer syndrome, Pfeiffer Mayer syndrome, Pfeiffer Palm Teller syndrome, Pfeiffer Rockelein syndrome, Pfeiffer syndrome, Pfeiffer Tietze Welte syndrome, PHACE syndrome, Phacomatosis fourth, Phacomatosis pigmentokeratotica, Phacomatosis pigmentovascularis, PHAVER syndrome, Phenobarbital antenatal infection, Phenobarbital embryopathy, Phenothiazine antenatal infection, Phenylketonuria, Phenylketonuric embryopathy, Pheochromocytoma, Pheochromocytoma childhood, Pheochromocytoma-islet cell tumor syndrome, Philadelphia-negative chronic myeloid leukemia, Phocomelia contractures absent thumb, Phocomelia ectrodactyly deafness sinus arrhythmia, Phocomelia thrombocytopenia encephalocele, Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia, Phosphoglucomutase deficiency, Phosphoglucomutase deficiency type 1, Phosphoglucomutase deficiency type 2, Phosphoglucomutase deficiency type 3, Phosphoglucomutase deficiency type 4, Phosphoglycerate kinase 1 deficiency, Phosphoglycerate kinase deficiency, Phosphomannoisomerase deficiency, Phosphoribosylpyrophosphate synthetase deficiency, Photosensitive epilepsy, Phyllodes tumor of the prostate, PIBIDS syndrome, Picardi-Lassueur-Little syndrome, Pick’s disease, Piebaldism, Piepkorn Karp Hickok syndrome, Pierre Marie cerebellar ataxia, Pierre Robin sequence faciodigital anomaly, Pierre Robin sequence with pectus excavatum and rib and scapular anomalies, Pierre Robin syndrome skeletal dysplasia polydactyly, Pierre Robin’s sequence, Pierson syndrome, Pigment-dispersion syndrome, Pigmentary retinopathy, Pigmented purpuric eruption, Pigmented villonodular synovitis, Pili annulati, Pili multigemini, Pili torti, Pili torti developmental delay neurological abnormalities, Pili torti onychodysplasia, Pillay syndrome, Pilo dento ungular dysplasia microcephaly, Pilocytic astrocytoma, Pilodental dysplasia with refractive errors, Pilomatrixoma, Pilotto syndrome, Pineal parenchymal tumors of intermediate differentiation, Pineoblastoma, Pineoblastoma  childhood, Pineocytoma, Pinheiro Freire-Maia Miranda syndrome, Pinta, Piriformis syndrome, Pitt syndrome, Pitt-Hopkins syndrome, Pituitary cancer, Pituitary dwarfism with large sella turcica, Pituitary hormone deficiency  combined 1, Pituitary hormone deficiency  combined 2, Pituitary hormone deficiency  combined 3, Pituitary hormone deficiency  combined 4, Pityriasis lichenoides, Pityriasis lichenoides chronica, Pityriasis lichenoides et varioliformis acuta, Pityriasis rubra pilaris, Piussan Lenaerts Mathieu syndrome, Placenta disorder, Plagiocephaly, Plagiocephaly and X-linked mental retardation, Plasma cell leukemia, Plasma thromboplastin antecedent deficiency, Plasmacytoma anaplastic, Plasmalogens synthesis deficiency isolated, Plasminogen activator inhibitor type 1 deficiency, Platelet disorder  familial  with associated myeloid malignancy, Platelet storage pool deficiency, Platyspondylic lethal skeletal dysplasia Torrance type, Pleoconial myopathy with salt craving, Pleomorphic malignant fibrous histiocytoma, Pleomorphic xanthoastrocytoma, Pleuropulmonary blastoma, Plexosarcoma, Plummer Vinson syndrome, Pneumocystic carinii pneumonia, Pneumocystosis, Pneumonia  eosinophilic, Podder-Tolmie syndrome, POEMS syndrome, Poikiloderma with neutropenia, Poikilodermatomyositis mental retardation, Poikilodermia alopecia retrognathism cleft palate, Pointer syndrome, Poland syndrome, Poliomyelitis, Polyarteritis nodosa, Polyarthritis  systemic, Polycystic bone disease, Polycystic kidneys  severe infantile with tuberous sclerosis, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic liver disease, Polycythemia vera, Polydactyly, Polydactyly alopecia seborrheic dermatitis, Polydactyly cleft lip palate psychomotor retardation, Polydactyly myopia syndrome, Polydactyly postaxial, Polydactyly postaxial dental and vertebral, Polydactyly preaxial type 1, Polydactyly preaxial type 4, Polydactyly syndrome middle ray duplication, Polydactyly visceral anomalies cleft lip palate, Polyembryoma, Polyglucosan body disease adult, Polymicrogyria turricephaly hypogenitalism, Polymorphic catecholergic ventricular tachycardia, Polymorphic reticulosis, Polymorphous low-grade adenocarcinoma, Polymyositis, Polyneuropathy hand defect, Polyneuropathy mental retardation acromicria premature menopause, Polyomavirus allograft nephropathy, Polyosteolysis/hyperostosis syndrome, Polyostotic osteolytic dysplasia  hereditary expansile, Polysyndactyly cardiac malformation, Polysyndactyly microcephaly ptosis, Polysyndactyly orofacial anomalies, Polysyndactyly trigonocephaly agenesis of corpus callosum, Polysyndactyly type 4, Polysyndactyly type Haas, Poncet-Spiegler’s cylindroma, Pontocerebellar hypoplasia type 1, Pontocerebellar hypoplasia type 2, Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 6, Pontoneocerebellar Hypoplasia, Popliteal pterygium syndrome, Popliteal pterygium syndrome lethal type, Porencephaly, Porencephaly cerebellar hypoplasia internal malformations, Porokeratosis of Mibelli, Porokeratosis plantaris palmaris et disseminata, Porokeratosis punctata palmaris et plantaris, Porokeratosis  disseminated superficial actinic 1, Porokeratosis  disseminated superficial actinic 2, Porphyria, Porphyria cutanea tarda, Portal hypertension, Portal hypertension due to infrahepatic block, Positive rheumatoid factor polyarthritis, Post Polio syndrome, Post-infectious myocarditis, Post-infectious reactive arthropathy, Post-Streptococcal Neurologic Disorders, Post-transplant lymphoproliferative disease, Post-traumatic epilepsy, Postaxial polydactyly mental retardation, Posterior column ataxia, Posterior column ataxia with retinitis pigmentosa, Posterior urethral valves, Posterior valve urethra, Postorgasmic illness syndrome, Postural orthostatic tachycardia syndrome, Potassium aggravated myotonia, Potato nose, Potocki-Lupski syndrome, Potocki-Shaffer syndrome, Potter syndrome, Potter syndrome type 1, Potter syndrome type 2, Potter syndrome type 3, Potter syndrome type 4, Powell Buist Stenzel syndrome, Prader-Willi habitus  osteopenia  and camptodactyly, Prader-Willi syndrome, Prata Libûral Gonûáalves syndrome, Preaxial deficiency  postaxial polydactyly and hypospadias, Precocious epileptic encephalopathy, Precocious myoclonic encephalopathy, Precocious puberty, Precocious puberty  gonadotropin-dependent, Preeyasombat Varavithya syndrome, Prekallikrein deficiency  congenital, Premature aging Okamoto type, Premature atherosclerosis with photomyoclonic epilepsy  deafness  diabetes mellitus nephropathy an, Premature ovarian failure  familial, Presenile dementia Kraepelin type, Priapism, Prieto X-linked mental retardation syndrome, Primary agammaglobulinemia, Primary amebic meningoencephalitis, Primary angiitis of the central nervous system, Primary basilar impression, Primary biliary cirrhosis, Primary carnitine deficiency, Primary ciliary dyskinesia, Primary cortisol resistance, Primary effusion lymphoma, Primary familial xanthomatosis with involvement and calcification of the adrenal galnds, Primary gastrointestinal melanoma, Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Primary hyperoxaluria type 3, Primary lateral sclerosis, Primary malignant lymphoma, Primary malignant melanoma of the cervix, Primary malignant melanoma of the conjunctiva, Primary open angle glaucoma juvenile onset 1, Primary orthostatic tremor, Primary progressive aphasia, Primary release disorder of platelets, Primary sclerosing cholangitis, Primary tubular proximal acidosis, Primrose syndrome, Prinzmetal’s variant angina, Procarcinoma, Proconvertin deficiency  congenital, Progeria, Progeria variant syndrome Ruvalcaba type, Progeroid short stature with pigmented nevi, Progeroid syndrome Petty type, Progeroid syndrome  Penttinen type, Prognathism mandibular, Progressive black carbon hyperpigmentation of infancy, Progressive familial heart block type 1A, Progressive familial heart block type 1B, Progressive familial heart block type 2, Progressive hemifacial atrophy, Progressive kinking of the hair  acquired, Progressive multifocal leukoencephalopathy, Progressive myoclonic epilepsy, Progressive non-fluent aphasia, Progressive osseous heteroplasia, Progressive supranuclear palsy, Progressive supranuclear palsy atypical, Progressive transformation of germinal centers, Prolactinoma  familial, Prolerating trichilemmal cyst, Prolidase deficiency, Proopiomelanocortin deficiency, Properdin deficiency, Properdin deficiency  X-linked, Propionic acidemia, Prosencephaly cerebellar dysgenesis, Prosopagnosia  hereditary, Prostaglandin-Endoperoxide Synthase Deficiency, Prostatic malacoplakia associated with prostatic abscess, Prostatic stromal proliferation of uncertain malignant potential, Protein R deficiency, Protein S deficiency, Proteus like syndrome mental retardation eye defect, Proteus syndrome, Prothrombin thrombophilia, Protoporphyria, Proud Levine Carpenter syndrome, Proximal spinal muscular atrophy, Prune belly syndrome, Prurigo nodularis, Pruritic urticarial papules plaques of pregnancy, Pseudo Pelger-Huet anomaly, Pseudo-Turner syndrome, Pseudo-Von Willebrand disease, Pseudoachondroplasia, Pseudoachondroplastic dysplasia 2, Pseudoainhum, Pseudoaldosteronism, Pseudoaminopterin syndrome, Pseudoarylsulfatase A deficiency, Pseudocholinesterase deficiency, Pseudodiastrophic dysplasia, Pseudohermaphrodism anorectal anomalies, Pseudohyperkalemia Cardiff, Pseudohypoaldosteronism type 1 autosomal dominant, Pseudohypoaldosteronism type 1 autosomal recessive, Pseudohypoaldosteronism type 2, Pseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 2, Pseudoinflammatory fundus dystrophy, Pseudomarfanism, Pseudomonas stutzeri infections, Pseudomongolism, Pseudomyotonia, Pseudomyxoma peritonei, Pseudoneonatal adrenoleukodystrophy, Pseudopapilledema blepharophimosis hand anomalies, Pseudopelade of Brocq, Pseudopolycythaemia, Pseudoprogeria syndrome, Pseudopseudohypoparathyroidism, Pseudotrisomy 13 syndrome, Pseudotumor cerebri, Pseudovaginal perineoscrotal hypospadias, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum  dominant form, Pseudoxanthoma elasticum  forme fruste, Pseudoxanthoma elasticum  recessive form, Psittacosis, Pterigium Colli, Pterygia  mental retardation and distinctive craniofacial features, Pterygium antecubital, Pterygium colli mental retardation digital anomalies, Pterygium of the conjunctiva and cornea, Ptosis coloboma mental retardation, Ptosis strabismus diastasis, Ptosis strabismus ectopic pupils, Pudendal Neuralgia, Pulmonar arterioveinous aneurysm, Pulmonary alveolar proteinosis acquired, Pulmonary arterio-veinous fistula, Pulmonary arteriovenous malformation, Pulmonary artery agenesis, Pulmonary artery coming from the aorta, Pulmonary artery familial dilatation, Pulmonary artery  isolated unilateral absence of (Isolated UAPA), Pulmonary artery  unilateral absence of (UAPA), Pulmonary atresia with ventricular septal defect, Pulmonary branches stenosis, Pulmonary edema of mountaineers, Pulmonary hypoplasia familial primary, Pulmonary sequestration, Pulmonary supravalvular stenosis, Pulmonary surfactant protein B  deficiency, Pulmonary valve stenosis, Pulmonary valves agenesis, Pulmonary vein stenosis, Pulmonary venoocclusive disease, Pulmonary venous return anomaly, Pulmonaryatresia intact ventricular septum, Pulmonic stenosis, Punctate acrokeratoderma freckle like pigmentation, Punctate inner choroidopathy, Pure autonomic failure, Pure red cell aplasia, Purine nucleoside phosphorylase deficiency, Pycnodysostosis, Pyknoachondrogenesis, Pyle disease, Pyoderma gangrenosum, Pyogenic arthritis  pyoderma gangrenosum and acne, Pyomyositis, Pyridoxal 5′-phosphate-dependent epilepsy, Pyridoxine deficiency, Pyridoxine-dependent epilepsy, Pyropoikilocytosis hereditary, Pyruvate carboxylase deficiency, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase deficiency, Pyruvate dehydrogenase phosphatase deficiency, Pyruvate kinase deficiency, Pyruvate kinase deficiency liver type, Pyruvate kinase deficiency muscle type

Rare Diseases and Disorders – Starting With “Q”

Q fever, Qazi Markouizos syndrome, Quebec platelet disorder, Quinquaud’s decalvans folliculitis

Rare Diseases and Disorders – Starting With “R”

Rabies, Rabson-Mendenhall syndrome, Radial defect Robin sequence, Radial hypoplasia  triphalangeal thumbs and hypospadias, Radial ray agenesis, Radial ray hypoplasia choanal atresia, Radiation induced angiosarcoma of the breast, Radiation induced brachial plexopathy, Radiation induced cancer, Radiation induced meningioma, Radio digito facial dysplasia, Radio renal syndrome, Radio-ulnar synostosis type 1, Radio-ulnar synostosis type 2, Radioulnar synostosis retinal pigment abnormalities, Radioulnar synostosis with microcephaly short stature scoliosis and mental retardation, Radius absent anogenital anomalies, Raine syndrome, Ramer Ladda syndrome, Ramon Syndrome, Ramos Arroyo Clark syndrome, Rapadilino syndrome, Rapp-Hodgkin syndrome, Rasmussen encephalitis, Rasmussen Johnsen Thomsen syndrome, Rat bite fever, Ray Peterson Scott syndrome, Reactive angioendotheliomatosis, Reardon Hall Slaney syndrome, Reardon Wilson Cavanagh syndrome, Recessive developmental delay  small stature  microcephaly and brain calcifications, Recombinant chromosome 8 syndrome, Rectal cancer childhood, Rectal neoplasm, Rectosigmoid neoplasm, Recurrent peripheral facial palsy, Recurrent respiratory papillomatosis, Red cell phospholipid defect with hemolysis, Red skin pigment anomaly of New Guinea, Reductional transverse limb defects, Reed syndrome, Reese retinal dysplasia, Refsum disease, Refsum disease with increased pipecolic acidemia, Refsum disease  infantile form, Reginato Shiapachasse syndrome, Reiter syndrome, Relapsing polychondritis, Renal adysplasia dominant type, Renal agenesis meningomyelocele mullerian defect, Renal agenesis bilateral, Renal caliceal diverticuli deafness, Renal cancer, Renal carcinoma familial, Renal cell carcinoma 4, Renal dysplasia – limb defects syndrome, Renal dysplasia diffuse autosomal recessive, Renal dysplasia diffuse cystic, Renal dysplasia limb defects, Renal dysplasia megalocystis sirenomelia, Renal dysplasia mesomelia radiohumeral fusion, Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia, Renal genital middle ear anomalies, Renal glycosuria, Renal hamartomas nephroblastomatosis and fetal gigantism, Renal hypouricemia, Renal pelvis and ureter transitional cell cancer, Renal rickets, Renal tubular acidosis, Renal tubular acidosis progressive nerve deafness, Renal tubular acidosis  distal, Renal tubular acidosis  distal  autosomal dominant, Renal tubular acidosis  distal  autosomal recessive, Renal tubular acidosis  distal  type 3, Renal tubular acidosis  distal  type 4, Renal tubular dysgenesis, Renal tubulopathy  diabetes mellitus  and cerebellar ataxia due to duplication of mitochondrial DNA, Renier Gabreels Jasper syndrome, Renoanogenital syndrome, Renoprival hypertension, Renpenning syndrome 1, Resistance to LH (luteinizing hormone), Resistance to thyroid stimulating hormone, Respiratory distress syndrome  infant, Restless legs syndrome  susceptibility to  1, Restless legs syndrome susceptibility to 2, Restless legs syndrome susceptibility to 3, Restless legs syndrome susceptibility to 4, Restless legs syndrome susceptibility to 5, Restless legs syndrome susceptibility to 6, Reticular dysgenesis, Reticuloendotheliosis, Retinal cone dystrophy 1, Retinal cone dystrophy 2, Retinal cone dystrophy 3A, Retinal cone dystrophy 3B, Retinal cone dystrophy 4, Retinal degeneration with nanophthalmos  cystic macular degeneration  and angle closure glaucoma, Retinal dysplasia X-linked, Retinal telangiectasia hypogammaglobulinemia, Retinis pigmentosa deafness hypogenitalism, Retinitis pigmentosa, Retinitis pigmentosa 1, Retinitis Pigmentosa 11, Retinitis pigmentosa 12, Retinitis Pigmentosa 13, Retinitis Pigmentosa 14, Retinitis Pigmentosa 15, Retinitis Pigmentosa 17, Retinitis Pigmentosa 18, Retinitis Pigmentosa 19, Retinitis pigmentosa 2  x linked, Retinitis Pigmentosa 20, Retinitis Pigmentosa 22, Retinitis Pigmentosa 23, Retinitis Pigmentosa 24, Retinitis Pigmentosa 25, Retinitis Pigmentosa 26, Retinitis Pigmentosa 28, Retinitis pigmentosa 29, Retinitis pigmentosa 3, Retinitis Pigmentosa 30, Retinitis Pigmentosa 31, Retinitis Pigmentosa 32, Retinitis Pigmentosa 33, Retinitis Pigmentosa 34, Retinitis Pigmentosa 35, Retinitis Pigmentosa 36, Retinitis Pigmentosa 4, Retinitis Pigmentosa 41, Retinitis Pigmentosa 6, Retinitis Pigmentosa 7, Retinitis Pigmentosa 9, Retinitis pigmentosa  deafness  mental retardation  and hypogonadism, Retinitis pigmentosa-deafness syndrome, Retinoblastoma, Retinohepatoendocrinologic syndrome, Retinopathy anemia CNS anomalies, Retinopathy aplastic anemia neurological abnormalities, Retinopathy of prematurity, Retinopathy pigmentary mental retardation, Retinopathy  arteriosclerotic, Retinoschisis autosomal dominant, Retinoschisis of Fovea, Retroperitoneal fibrosis, Retroperitoneal liposarcoma, Rett syndrome, Revesz syndrome, Reye syndrome, Reynolds Neri Hermann syndrome, Reynolds syndrome, Rhabditida Infections, Rhabdoid tumor, Rhabdomyomatous dysplasia cardiopathy genital anomalies, Rhabdomyomatous mesenchymal hamartoma, Rhabdomyosarcoma alveolar, Rhabdomyosarcoma embryonal, Rheumatic Fever, Rheumatoid nodulosis, Rheumatoid vasculitis, Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata  type 3, Rhizomelic dysplasia Patterson Lowry type, Rhizomelic dysplasia  scoliosis  and retinitis pigmentosa, Rhizomelic pseudopolyarthritis, Rhizomelic syndrome, RHYNS syndrome, Ribbing disease, Richards-Rundle syndrome, Richieri Costa Da Silva syndrome, Richieri Costa Guion-Almeida syndrome, Richieri Costa Orquizas syndrome, Richieri Costa Pereira syndrome, Richieri-Costa Colletto Otto syndrome, Richieri-Costa Guion-Almeida Cohen syndrome, Richter syndrome, Rickets, Right atrium familial dilatation, Right ventricle hypoplasia, Rigid spine syndrome, Ring dermoid of cornea, Ringed hair disease, Rippling muscle disease, Rippling muscle disease  1, Roberts syndrome, Robin sequence and oligodactyly, Robinow Sorauf syndrome, Robinow syndrome, Robinson Miller Bensimon syndrome, Roch-Leri mesosomatous lipomatosis, Rocky mountain spotted fever, Rod myopathy, Rodini Richieri Costa syndrome, Rodrigues blindness, ROHHAD, Roifman syndrome, Rokitansky sequence, Rokitansky-Aschoff sinuses of the gallbladder, Rombo syndrome, Rommen Mueller Sybert syndrome, Rosai-Dorfman disease, Rosenberg Chutorian syndrome, Rothmund Thomson syndrome, Rotor syndrome, Roussy Levy syndrome, Rowley-Rosenberg syndrome, Roy Maroteaux Kremp syndrome, Rozin Hertz Goodman syndrome, Rubella, Rubella congenital, Rubinstein Taybi like syndrome, Rubinstein-Taybi syndrome, Rud Syndrome, Rudd Klimek syndrome, Rufous oculocutaneous albinism, Rumination disorder, Rutherfurd syndrome, Ruvalcaba Churesigaew Myhre syndrome, Ruvalcaba syndrome, Ruzicka Goerz Anton syndrome

Rare Diseases and Disorders – Starting With “S”

Saal Bulas syndrome, Sabinas brittle hair syndrome, Saccharopinuria, Sackey Sakati Aur syndrome, Sacral agenesis, Sacral defect with anterior meningocele, Sacral hemangiomas multiple congenital abnormalities, Sacral meningocele conotruncal heart defects, Sacral plexopathy, Sacrococcygeal Teratoma, Saethre-Chotzen syndrome, Saito Kuba Tsuruta syndrome, Sakati syndrome, Sakoda complex, Salcedo syndrome, Salivary gland cancer  adult, Salivary gland cancer  childhood, Salla disease, Sallis Beighton syndrome, Sammartino Decreccio syndrome, Samson Gardner syndrome, Samson Viljoen syndrome, Sanderson Fraser syndrome, Sandhaus Ben-Ami syndrome, Sandhoff disease, Sandifer syndrome, Santos Mateus Leal syndrome, SAPHO syndrome, Sarcoidosis, Sarcoma botryoides, Sarcosinemia, SARS, Satoyoshi syndrome, Saul Wilkes Stevenson syndrome, Say Barber Miller syndrome, Say Carpenter syndrome, Say Field Coldwell syndrome, Say Meyer syndrome, Say syndrome, Scalp defects postaxial polydactyly, Scalp ear nipple syndrome, Scaphotrapeziotrapezoid arthrodesis, Scapuloperoneal myopathy, Scapuloperoneal myopathy MYH7-related, Scapuloperoneal syndrome  neurogenic Kaeser type, SCARF syndrome, Schaap Taylor Baraitser syndrome, Schaefer Stein Oshman syndrome, Scheuermann disease, Schimke immunoosseous dysplasia, Schimke X-linked mental retardation syndrome, Schindler disease type 1, Schinzel Giedion syndrome, Schisis association, Schistosomiasis, Schizencephaly, Schizophrenia mental retardation deafness retinitis, Schizotaxia, Schlegelberger Grote syndrome, Schmitt Gillenwater Kelly syndrome, Schneckenbecken dysplasia, Scholte syndrome, Schrander-Stumpel Theunissen Hulsmans syndrome, Schroer Hammer Mauldin syndrome, Schwannoma, Schwannomatosis, Schwartz Cohen-Addad Lambert syndrome, Schwartz Jampel syndrome type 1, Scleredema, Scleroatonic muscular dystrophy, Sclerocornea  Syndactyly  ambiguous genitalia, Scleromyxedema, Sclerosing bone dysplasia mental retardation, Sclerosing mesenteritis, Sclerosteosis, Sclerotylosis, Scoliosis as part of NF, Scoliosis with unilateral unsegmented bar, SCOT deficiency, Scott Bryant Graham syndrome, Scott syndrome, Scurvy, Sea-Blue histiocytosis, Seaver Cassidy syndrome, Sebaceous gland hyperplasia familial presenile, Sebocystomatosis, Secernentea Infections, Seckel like syndrome Majoor-Krakauer type, Seckel syndrome, Secretory breast carcinoma, Sedlackova syndrome, Seemanova Lesny syndrome, Segawa syndrome autosomal recessive, Seghers syndrome, Segmental vertebral anomalies, Segmentation syndrome 1, Seizures benign familial neonatal recessive form, Seizures mental retardation hair dysplasia, Selective IgA deficiency, Selenium poisoning, Selig Benacerraf Greene syndrome, Semantic dementia, Seminoma, Semmekrot Haraldsson Weemaes syndrome, Sener syndrome, Senior Loken Syndrome, Sennetsu Fever, Sensory ataxic neuropathy  dysarthria and ophthalmoparesis, Sensory neuropathy type 1, Senter syndrome, Seow Najjar syndrome, Sepiapterin reductase deficiency, Septo-optic dysplasia, Sequeiros Sack syndrome, Seres-Santamaria Arimany Muniz syndrome, Serkal syndrome, Serpentine fibula polycystic kidney syndrome, Serpiginous choroiditis, Sertoli cell-only syndrome, Sertoli-leydig cell tumors, SeSAME syndrome, Severe achondroplasia with developmental delay and acanthosis nigricans, Severe combined immunodeficiency, Severe combined immunodeficiency with sensitivity to ionizing radiation, Severe combined immunodeficiency atypical, Severe congenital neutropenia autosomal dominant, Severe congenital neutropenia autosomal recessive 3, Severe congenital neutropenia X-linked, Severe generalized recessive dystrophic epidermolysis bullosa, Severe immunodeficiency  autosomal recessive T-cell negative  B-cell negative  NK cell-positive, Severe infantile axonal neuropathy, Severe mental retardation and absent nails of hallux and pollex, Sezary syndrome, Shapiro syndrome, Sharma Kapoor Ramji syndrome, Sharp syndrome, Shaver’s disease, Sheehan syndrome, Shigellosis, Shith Filkins syndrome, Short bowel syndrome, Short broad great toe macrocranium, Short chain acyl CoA dehydrogenase deficiency, Short limb dwarf edema iris coloboma, Short limb dwarf lethal Colavita Kozlowski type, Short limb dwarf lethal Mcalister Crane type, Short limbs abnormal face congenital heart disease, Short limbs subluxed knees cleft palate, Short rib-polydactyly syndrome type 3, Short rib-polydactyly syndrome type 1, Short rib-polydactyly syndrome type 2, Short rib-polydactyly syndrome type 4, Short ribs craniosynostosis polysyndactyly, Short stature abnormal skin pigmentation mental retardation, Short stature contractures hypotonia, Short stature cranial hyperostosis hepatomegaly, Short stature deafness neutrophil dysfunction, Short stature dysmorphic face pelvic scapula dysplasia, Short stature hyperkaliemia acidosis, Short stature mental retardation eye anomalies, Short stature microcephaly seizures deafness, Short stature monodactylous ectrodactyly cleft palate, Short stature prognathism short femoral necks, Short stature Robin sequence cleft mandible hand anomalies clubfoot, Short stature syndrome Brussels type, Short stature talipes natal teeth, Short stature valvular heart disease, Short stature webbed neck heart disease, Short stature wormian bones dextrocardia, Short stature cranial hyperostosis hepatomegaly and diabetes, SHORT syndrome, Short tarsus absence of lower eyelashes, Shoulder and thorax deformity congenital heart disease, Shoulder girdle defect mental retardation familial, Shprintzen omphalocele syndrome, Shprintzen omphalocele syndrome, Shprintzen-Goldberg craniosynostosis syndrome, Shwachman-Diamond syndrome, Shwartzman phenomenon, Sialadenitis, Sialidosis type I, Sialidosis  type II, Sialuria  French type, Sickle cell anemia, Sickle delta beta thalassemia, Siderius X-linked mental retardation syndrome, Sideroblastic anemia acquired, Sideroblastic anemia and mitochondrial myopathy, Sideroblastic anemia pyridoxine-refractory autosomal recessive, Sideroblastic anemia pyridoxine-responsive autosomal recessive, Sideroblastic anemia X-linked, Siderosis, Siegler Brewer Carey syndrome, Signet ring cell carcinoma, Silengo Lerone Pelizza syndrome, Silicosiderosis, Silicosis, Sillence syndrome, Silver-Russell syndrome, Silvery hair syndrome, Simian B virus infection, Simosa cranio facial syndrome, Simpson-Golabi-Behmel syndrome, Sine scleroderma, Singh Chhaparwal Dhanda syndrome, Single upper central incisor, Single ventricular heart, Singleton Merten syndrome, Sinonasal undifferentiated carcinoma, Sinus cancer, Sinus node disease and myopia, Sirenomelia, Sitosterolemia, Situs inversus, Situs inversus totalis with cystic dysplasia of kidneys and pancreas, Sixth nerve palsy, Sjogren’s syndrome juvenile secondary to autoimmune disease, Sjogren-Larsson syndrome, Sjogren-Larsson-like syndrome, Skeletal dysplasia orofacial anomalies, Skeletal dysplasia San Diego type, Skeleto cardiac syndrome with thrombocytopenia, Skin cancer non melanoma childhood, Skin fragility woolly hair syndrome, Slavotinek Pike Mills Hurst syndrome, Slti Salem syndrome, Small cell lung cancer  childhood, Small cell lung cancer  adult, Small intestine cancer, Small intestine cancer childhood, Small non-cleaved cell lymphoma, Smallpox, Smith Martin Dodd syndrome, Smith McCort dysplasia, Smith-Lemli-Opitz syndrome type 1, Smith-Lemli-Opitz syndrome type 2, Smith-Magenis syndrome, Sneddon syndrome, Snowflake vitreoretinal degeneration, Snyder Robinson syndrome, Soft tissue sarcoma, Soft tissue sarcoma childhood, Sohval Soffer syndrome, Somatostatinoma, Sommer Hines syndrome, Sommer Rathbun Battles syndrome, Sommer Young Wee Frye syndrome, Sondheimer syndrome, Sonoda syndrome, Sosby syndrome, Sotos syndrome, Sparse hair ptosis mental retardation, Spasmodic dysphonia, Spastic angina with healthy coronary artery, Spastic ataxia Charlevoix-Saguenay type, Spastic diplegia infantile type, Spastic paraparesis, Spastic paraparesis deafness, Spastic paraplegia 1, Spastic paraplegia 10, Spastic paraplegia 11, Spastic paraplegia 12, Spastic paraplegia 13, Spastic paraplegia 14, Spastic paraplegia 15, Spastic paraplegia 16, Spastic paraplegia 17, Spastic paraplegia 18, Spastic paraplegia 19, Spastic paraplegia 2, Spastic paraplegia 20, Spastic paraplegia 23, Spastic paraplegia 24, Spastic paraplegia 25, Spastic paraplegia 26, Spastic paraplegia 29, Spastic paraplegia 3, Spastic paraplegia 31, Spastic paraplegia 39, Spastic paraplegia 4, Spastic paraplegia 5A, Spastic paraplegia 5B, Spastic paraplegia 6, Spastic paraplegia 7, Spastic paraplegia 8, Spastic paraplegia 9, Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation, Spastic paraplegia epilepsy mental retardation, Spastic paraplegia facial cutaneous lesions, Spastic paraplegia nephritis deafness, Spastic paraplegia neuropathy poikiloderma, Spastic paraplegia with precocious puberty, Spastic paresis glaucoma mental retardation, Spastic quadriplegia retinitis pigmentosa mental retardation, Spasticity mental retardation, Spasticity multiple exostoses, Spellacy gibbs watts syndrome, Spermatogenesis arrest, Spheroid body myopathy, Sphingolipidosis, Spiegler-Brooke syndrome, Spielmeyer-Vogt disease, Spina bifida, Spina bifida hypospadias, Spinal atrophy ophthalmoplegia pyramidal syndrome, Spinal bulbar motor neuropathy, Spinal cord neoplasm, Spinal dysostosis type Anhalt, Spinal intradural arachnoid cysts, Spinal muscular atrophy, Spinal muscular atrophy 1, Spinal muscular atrophy Ryukyuan type, Spinal muscular atrophy type 1 with congenital bone fractures, Spinal muscular atrophy type 2, Spinal muscular atrophy type 3, Spinal muscular atrophy type 4, Spinal muscular atrophy with respiratory distress 1, Spinal shock, Spine rigid cardiomyopathy, Spinocerebellar ataxia, Spinocerebellar ataxia 1, Spinocerebellar ataxia 10, Spinocerebellar ataxia 11, Spinocerebellar ataxia 12, Spinocerebellar ataxia 13, Spinocerebellar ataxia 14, Spinocerebellar ataxia 15, Spinocerebellar ataxia 17, Spinocerebellar ataxia 18, Spinocerebellar ataxia 19, Spinocerebellar ataxia 2, Spinocerebellar ataxia 20, Spinocerebellar ataxia 21, Spinocerebellar ataxia 23, Spinocerebellar ataxia 25, Spinocerebellar ataxia 26, Spinocerebellar ataxia 27, Spinocerebellar ataxia 28, Spinocerebellar ataxia 29, Spinocerebellar ataxia 3, Spinocerebellar ataxia 30, Spinocerebellar ataxia 31, Spinocerebellar ataxia 4, Spinocerebellar ataxia 5, Spinocerebellar ataxia 6, Spinocerebellar ataxia 7, Spinocerebellar ataxia 8, Spinocerebellar ataxia 9, Spinocerebellar ataxia autosomal recessive 1, Spinocerebellar ataxia autosomal recessive 3, Spinocerebellar ataxia autosomal recessive 4, Spinocerebellar ataxia autosomal recessive 5, Spinocerebellar ataxia autosomal recessive 6, Spinocerebellar ataxia autosomal recessive with axonal neuropathy, Spinocerebellar ataxia with dysmorphism, Spinocerebellar ataxia X-linked type 2, Spinocerebellar ataxia X-linked type 3, Spinocerebellar ataxia X-linked type 4, Spinocerebellar degeneration and corneal dystrophy, Spinocerebellar degenerescence book type, Spirochetes disease, Spirurida Infections, Spitz nevus, Spleen neoplasm, Splenic infarcts, Splenogonadal fusion limb defects micrognatia, Splenomegaly, Split hand foot malformation, Split hand foot malformation 1, Split hand split foot malformation autosomal recessive, Split hand split foot mandibular hypoplasia, Split hand split foot nystagmus, Split hand urinary anomalies spina bifida, Split hand/foot malformation X-linked, Spondylarthropathy, Spondylocamptodactyly, Spondylocarpotarsal synostosis syndrome, Spondylocostal dysostosis 1, Spondylocostal dysostosis 2, Spondylocostal dysostosis 3, Spondylocostal dysostosis 4, Spondyloenchondrodysplasia, Spondyloepimetaphyseal dysplasia Genevieve type, Spondyloepimetaphyseal dysplasia joint laxity, Spondyloepimetaphyseal dysplasia Matrilin-3 related, Spondyloepimetaphyseal dysplasia micromelic, Spondyloepimetaphyseal dysplasia Missouri type, Spondyloepimetaphyseal dysplasia Shohat type, Spondyloepimetaphyseal dysplasia Sponastrime type, Spondyloepimetaphyseal dysplasia Strudwick type, Spondyloepimetaphyseal dysplasia with hypotrichosis, Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia X-linked, Spondyloepimetaphyseal dysplasia x-linked with mental deterioration, Spondyloepimetaphyseal dysplasia Aggrecan type, Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia Maroteaux type, Spondyloepiphyseal dysplasia Omani type, Spondyloepiphyseal dysplasia tarda autosomal dominant, Spondyloepiphyseal dysplasia tarda progressive arthropathy, Spondyloepiphyseal dysplasia tarda Toledo type, Spondyloepiphyseal dysplasia tarda X-linked, Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech, Spondylohypoplasia arthrogryposis and popliteal pterygium, Spondylometaepiphyseal dysplasia short limb-hand type, Spondylometaphyseal dysplasia Algerian type, Spondylometaphyseal dysplasia axial, Spondylometaphyseal dysplasia corner fracture type, Spondylometaphyseal dysplasia East-African type, Spondylometaphyseal dysplasia Kozlowski type, Spondylometaphyseal dysplasia Sedaghatian type, Spondylometaphyseal dysplasia type A4, Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism, Spondylometaphyseal dysplasia with cone-rod dystrophy, Spondylometaphyseal dysplasia with dentinogenesis imperfecta, Spondylometaphyseal dysplasia X-linked, Spondyloperipheral dysplasia, Spondylospinal thoracic dysostosis, Spondylothoracic dysostosis, Spongiform encephalopathy, Spontaneous coronary artery dissection, Spontaneous periodic hypothermia, Spontaneous pneumothorax familial type, Sporotrichosis, Spotted fever, Spranger Schinzel Myers syndrome, Sprengel deformity, Squamous cell carcinoma of the head and neck, St Anthony’s fire, Stachybotrys chartarum, Stalker Chitayat syndrome, Stampe sorensen syndrome, Staphylococcal food poisoning, Staphylococcal toxic shock syndrome, STAR syndrome, Stargardt disease, Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features, Status epilepticus, Steatocystoma multiplex, Steatocystoma multiplex with natal teeth, Steinfeld syndrome, Stenotrophomonas maltophilia, Sterility due to immotile flagella, Stern Lubinsky Durrie syndrome, Sternal cleft, Sternal cyst vascular anomalies, Sternal malformation vascular dysplasia associatio, Steroid dehydrogenase deficiency dental anomalies, Stevens-Johnson syndrome, Stewart Treves syndrome, Stickler syndrome, Stickler syndrome type 1, Stickler syndrome  type 2, Stickler syndrome  type 3, Stiff person syndrome, Stiff skin syndrome, Still’s disease adult onset, Stocco dos Santos syndrome, Stoelinga de Koomen Davis syndrome, Stoll Alembik Dott syndrome, Stoll alembik finck syndrome, Stoll geraudel chauvin syndrome, Stoll kieny dott syndrome, Stomach cancer  childhood, Stomach cancer familial, Stomach carcinoma, Stomatocytosis I, Stomatocytosis II, Storm syndrome, Stratton garcia young syndrome, Stratton Parker syndrome, Streptococcal Group A invasive disease, Streptococcal Group B invasive disease, Stress cardiomyopathy, Striatonigral degeneration infantile, Strongyloidiasis, Stuart factor deficiency  congenital, Sturge-Weber syndrome, Stuve-Wiedemann syndrome, Subacute sclerosing panencephalitis, Subaortic stenosis short stature syndrome, Subcutaneous panniculitis-like T-cell lymphoma, Subependymal giant cell astrocytoma, Subependymal nodular heterotopia, Subependymoma, Subpulmonary stenosis, Subvalvular aortic stenosis, Succinic acidemia, Succinic acidemia lactic acidosis congenital, Succinic semialdehyde dehydrogenase deficiency, Succinyl-CoA acetoacetate transferase deficiency, Sudden Arrhythmia Death Syndrome, Sudden infant death syndrome, Sugarman brachydactyly, Sulfite oxidase deficiency, Summitt syndrome, SUNCT headache, Superficial siderosis of the central nervous system, Superficial spreading melanoma, Superior mesenteric artery syndrome, Superior vena cava syndrome, Supernumerary nipples, Supraglottic laryngeal cancer, Supranuclear ocular palsy, Supratentorial primitive neuroectodermal tumor, Supratentorial primitive neuroectodermal tumors  childhood, Supraumbilical midabdominal raphe and facial cavernous hemangiomas, Susac syndrome, Sutton disease 2, Swyer James syndrome, Swyer syndrome, Sydenham’s chorea, Symmastia, Symmetrical thalamic calcifications, Symphalangism brachydactyly, Symphalangism brachydactyly craniosynostosis, Symphalangism distal, Symphalangism familial proximal, Symphalangism short stature accessory testis, Symphalangism with multiple anomalies of hands and feet, Symphalangism  distal  with microdontia  dental pulp stones  and narrowed zygomatic arch, Syncamptodactyly scoliosis, Syndactyly cataract mental retardation, Syndactyly Cenani Lenz type, Syndactyly ectodermal dysplasia cleft lip palate hand foot, Syndactyly type 1, Syndactyly type 1 with cataracts and mental retardation, Syndactyly type 2, Syndactyly type 3, Syndactyly type 5, Syndactyly type 9, Syndactyly-polydactyly-earlobe syndrome, Syndesmodysplasic dwarfism, Syngnathia cleft palate, Syngnathia multiple anomalies, Synostoses tarsal carpal and digital, Synostosis of talus and calcaneus short stature, Synovial cancer, Synovial Chondromatosis, Synovial chondromatosis familial with dwarfism, Synovial sarcoma, Synovitis, Synovitis acne pustulosis hyperostosis osteitis, Syphilitic aseptic meningitis, Syphilitic myelopathy, Syringobulbia, Syringocystadenoma papilliferum, Syringomas natal teeth oligodontia, Syringomelia hyperkeratosis, Syringomyelia, Systemic candidiasis, Systemic capillary leak syndrome, Systemic mastocytosis, Systemic necrotizing angitis

Rare Diseases and Disorders – Starting With “T”

T cell immunodeficiency primary, T-cell immunodeficiency  congenital alopecia and nail dystrophy, T-cell lymphoma 1A, T-Lymphocytopenia, Tabatznik syndrome, Tachycardia hypertension microphthalmia and hyperglycinuria, Takayasu arteritis, Talipes equinovarus, Talo-patello-scaphoid osteolysis synovitis  and short fourth metacarpals, Talonavicular coalition, Tang Hsi Ryu syndrome, Tangier disease, TAR syndrome, Tarlov cysts, TARP syndrome, Tarsal carpal coalition syndrome, Tarsal tunnel syndrome, TAU syndrome, Taurodontia absent teeth sparse hair, Taurodontism, Taurodontism  microdontia  and dens invaginatus, Tay Sachs disease, Teebi Kaurah syndrome, Teebi Naguib Al Awadi syndrome, Teebi Shaltout syndrome, Teebi syndrome, Teeth noneruption of with maxillary hypoplasia and genu valgum, Tel Hashomer camptodactyly syndrome, Telencephalic leukoencephalopathy, Telfer Sugar Jaeger syndrome, Temporal arteritis, Temporal epilepsy  familial, Temporomandibular ankylosis, Temtamy preaxial brachydactyly syndrome, Temtamy syndrome, Tendons extensor of fingers  anomalous insertion of, Teratoma, Testicular cancer, Testicular cancer childhood, Testotoxicosis, Tetanus, Tetra-amelia syndrome, Tetraamelia multiple malformations X-linked, Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities, Tetraamelia with pulmonary hypoplasia, Tetrahydrobiopterin deficiency, Tetralogy of fallot and glaucoma, Tetraploidy, Tetrasomy X, Thai symphalangism syndrome, Thakker Donnai syndrome, Thalamic degeneration symmetrical infantile, Thalamic degeneration  symmetric infantile, Thalassemia, Thanatophoric dysplasia Glasgow variant, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, Theodor Hertz Goodman syndrome, Thiamine responsive megaloblastic anemia syndrome, Thickened earlobes with conductive deafness from incus-stapes abnormalities, Thin ribs tubular bones dysmorphism, Thiolase deficiency, Thiopurine S methyltranferase deficiency, Thomas Jewett Raines syndrome, Thomas syndrome, Thompson Baraitser syndrome, Thoracic celosomia, Thoracic dysplasia hydrocephalus syndrome, Thoracic outlet syndrome, Thoraco abdominal enteric duplication, Thoraco limb dysplasia Rivera type, Thoracolaryngopelvic dysplasia, Thoracomelic dysplasia, Thoracopelvic dysostosis, Thost-Unna palmoplantar keratoderma, Three M syndrome, Thrombasthenia, Thrombocytopathy asplenia miosis, Thrombocytopenia 2, Thrombocytopenia cerebellar hypoplasia short stature, Thrombocytopenia essential, Thrombocytopenia Robin sequence, Thrombocytopenia with elevated serum IgA and renal disease, Thrombocytopenia acquired amegakaryocytic, Thrombocytopenia x-linked, Thrombomodulin anomalies familial, Thrombotic thrombocytopenic purpura  acquired, Thrombotic thrombocytopenic purpura  congenital, Thumb absence hypoplastic halluces, Thumb absent short stature immune deficiency, Thumb deformity, Thumb deformity alopecia pigmentation anomaly, Thumb stiff brachydactyly mental retardation, Thunderclap headache, Thymic epithelial tumor, Thymic hyperplasia, Thymic-Renal-Anal-Lung dysplasia, Thymoma  childhood, Thyrocerebral-retinal syndrome, Thyroglossal tract cyst, Thyroid agenesis, Thyroid cancer anaplastic, Thyroid cancer childhood, Thyroid cancer  follicular, Thyroid cancer  Hurthle cell, Thyroid cancer medullary, Thyroid hormone plasma membrane transport defect, Thyrotoxic periodic paralysis, Thyrotropin deficiency  isolated, Tibia absent polydactyly arachnoid cyst, Tibiae bowed radial anomalies osteopenia fracture, Tibial aplasia ectrodactyly hydrocephalus, Tibial hemimelia cleft lip palate, Tick paralysis, Tick-borne encephalitis, Tieche-Jadassohn nevus, Tietz syndrome, Tietze syndrome, Tight skin contracture syndrome lethal, Tiglic acidemia, Togaviridae disease, Tollner Horst Manzke syndrome, Tolosa Hunt syndrome, Tome Brunet Fardeau syndrome, Tongue cancer, Toni-Debre-Fanconi syndrome, Toni-Fanconi syndrome, Tonoki syndrome, TORCH syndrome, Torg Winchester syndrome, Toriello Carey syndrome, Torsion dystonia, Torsion dystonia with onset in infancy, Torticollis keloids cryptorchidism renal dysplasia, Torticollis  familial, Total Hypotrichosis  Mari type, Touraine Solente Gole syndrome, Townes-Brocks syndrome, Toxic epidermal necrolysis, Toxocariasis, Trabecular fiber myopathy, Tracheal agenesis, Tracheal agenesis without tracheoesophageal fistula, Tracheobronchomalacia, Tracheobronchomegaly, Tracheobronchopathia osteoplastica, Tracheoesophageal fistula, Tracheoesophageal fistula symphalangism, Tracheophageal fistula hypospadias, Trachoma, Tranebjaerg Svejgaard syndrome, Transaldolase deficiency, Transcobalamin 1 deficiency, Transient Acantholytic Dermatosis, Transient bullous dermolysis of the newborn, Transient erythroblastopenia of childhood, Transient global amnesia, Transient neonatal arthrogryposis, Transitional cell carcinoma, Transposition of the great arteries, Transverse limb deficiency hemangioma, Transverse myelitis, Treacher Collins syndrome, Treft Sanborn Carey syndrome, Trehalase deficiency, Tremor hereditary essential 1, Tremor hereditary essential 2, Tremors  nystagmus and duodenal ulcers, Treponema infection, Trichinosis, Tricho odonto onycho dermal syndrome, Tricho odonto onychodysplasia syndactyly dominant type, Tricho onychic dysplasia, Tricho onycho hypohidrotic dysplasia, Tricho retino dento digital syndrome, Tricho-dento-osseous syndrome, Tricho-dento-osseous syndrome 1, Tricho-hepato-enteric syndrome, Trichodental syndrome, Trichodermodysplasia dental alterations, Trichodysplasia xeroderma, Trichoepithelioma multiple familial 1, Trichoepithelioma multiple familial 2, Trichofolliculoma, Trichomalacia, Trichomegaly cataract hereditary spherocytosis, Trichomegaly with mental retardation  dwarfism and pigmentary degeneration of retina, Trichoodontoonychial dysplasia, Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 2, Trichorhinophalangeal syndrome type 3, Trichorrhexis nodosa syndrome, Trichoscyphodysplasia, Trichostasis spinulosa, Trichothiodystrophy nonphotosensitive, Trichothiodystrophy photosensitive, Trichotillomania, Trichuriasis, Tricuspid atresia, Trigeminal neuralgia, Trigger thumb, Trigonocephaly bifid nose acral anomalies, Trigonocephaly ptosis mental retardation, Trigonomacrocephaly tibial defect polydactyly, Trihydroxycholestanoylcoa oxidase isolated deficiency, Trimethylaminuria, Triopia, Triose phosphate-isomerase deficiency, Triphalangeal thumb non opposable, Triphalangeal thumb polysyndactyly syndrome, Triphalangeal thumbs brachyectrodactyly, Triple A syndrome, Triploidy, Trismus-pseudocamptodactyly syndrome, Trisomy 1 mosaicism, Trisomy 11 mosaicism, Trisomy 12 mosaicism, Trisomy 13, Trisomy 17 mosaicism, Trisomy 2 mosaicism, Trisomy 3 mosaicism, Trisomy 6, Trochlea of the humerus aplasia of, Trochlear dysplasia, Trophoblastic tumor placental site, Tropical sprue, Trueb Burg Bottani syndrome, Trypanosomiasis  Human East-African, Trypanosomiasis  Human West-African, Tryptophanuria with dwarfism, Tsukahara Azuno Kajii syndrome, Tsukahara Kajii syndrome, Tuberculosis, Tuberculous meningitis, Tuberculous uveitis, Tuberous sclerosis, Tuberous sclerosis type 1, Tuberous sclerosis type 2, Tubulointerstitial nephritis and uveitis, Tucker syndrome, Tuffli Laxova syndrome, Tufted angioma, Tufted hair folliculitis, Tufting enteropathy, Tukel syndrome, Tularemia, Tungiasis, Tunglang Savage Bellman syndrome, Turcot syndrome, Turner syndrome, Twenty-nail dystrophy, Twin twin transfusion syndrome, Tylosis, Type 1 plasminogen deficiency, Typhoid fever, Typhus, Tyrosine-oxidase temporary deficiency, Tyrosinemia type 1, Tyrosinemia type 2, Tyrosinemia type 3

Rare Diseases and Disorders – Starting With “U”

Uhl anomaly, Ulerythema ophryogenesis, Ulna and fibula absence of with severe limb deficiency, Ulna and fibula hypoplasia, Ulna hypoplasia with mental retardation, Ulna metaphyseal dysplasia syndrome, Ulnar hypoplasia lobster claw deformity of feet, Ulnar-mammary syndrome, Umbilical cord ulceration and intestinal atresia, Uncombable hair syndrome, Uniparental disomy of 6, Uniparental disomy of 13, Uniparental disomy of chromosome 11, Uniparental disomy of chromosome 2, Uniparental disomy paternal  chromosome 14, Unverricht-Lundborg disease, Upington disease, Upton Young syndrome, Urachal adenocarcinoma, Urachal cancer, Urachal cyst, Urea cycle disorders, Urethral cancer, Urethral obstruction sequence, Urioste Martinez-Frias syndrome, Urocanase deficiency, Urogenital adysplasia, Urogenital adysplasia hereditary, Uropathy distal obstructive polydactyly, Usher syndrome, Usher syndrome type 2A, Usher syndrome  type 1, Usher syndrome  type 1B, Usher syndrome  type 1C, Usher syndrome  type 1D, Usher syndrome  type 1E, Usher syndrome  type 1F, Usher syndrome type 2B, Usher syndrome type 2C, Usher syndrome type 3, Usual interstitial pneumonia, Uterine sarcoma, Uveal diseases

Rare Diseases and Disorders – Starting With “V”

VACTERL association, VACTERL association with hydrocephaly  X-linked, VACTERL hydrocephaly, Vacuolar myopathy, Vagina  absence of, Vaginal cancer, Vagneur Triolle Ripert syndrome, Valinemia, Van Allen Myhre syndrome, Van Benthem-Driessen-Hanveld syndrome, Van Bogaert-Hozay syndrome, Van Buchem disease type 2, Van Den Bosch syndrome, Van der Woude syndrome, Van der Woude syndrome 2, Van Goethem syndrome, Van Maldergem Wetzburger Verloes syndrome, Van Regemorter Pierquin Vamos syndrome, Variant Creutzfeldt-Jakob disease, Varicella virus antenatal infection, Variegate porphyria, Vascular hyalinosis, Vascular malposition, Vasculopathy  retinal  with cerebral leukodystrophy, Vasquez Hurst Sotos syndrome, Vein of Galen aneurysm, Velocardiofacial syndrome, Velofacioskeletal syndrome, Venencie Powell Gordon Winkelmann syndrome, Venezuelan equine encephalitis, Ventricular extrasystoles perodactyly Robin sequence, Ventricular familial preexcitation syndrome, Ventricular fibrillation  idiopathic, Ventricular septal defects, Ventriculo-arterial discordance  isolated, Ventruto Digirolamo Festa syndrome, Verloes Bourguignon syndrome, Verloes Gillerot Fryns syndrome, Verloes Van Maldergem Marneffe syndrome, Verloove Vanhorick Brubakk syndrome, Vernal keratitis, Vernal keratoconjunctivitis, Verrucous nevus acanthokeratolytic, Vertebral body fusion overgrowth, Vertebral fusion posterior lumbosacral blepharoptosis, Vertical talus  congenital, Vestibulocochlear dysfunction progressive, Vibratory angioedema, Vibrio vulnificus infection, Viljoen Kallis Voges syndrome, Viljoen Smart syndrome, Viljoen Winship syndrome, VIPoma, Viral hemorrhagic fever, Virilizing ovarian tumor, Virus associated hemophagocytic syndrome, Visceral myopathy familial with external ophthalmoplegia, Visceral neuropathy familial, Visceral steatosis, Viscero-atrial heterotaxia, Visual pathway and hypothalamic glioma childhood, Vitamin A embryopathy, Vitiligo mental retardation facial dysmorphism uremia, Vitreoretinal degeneration, Vitreoretinochoroidopathy dominant, VLCAD deficiency, Vocal cord dysfunction familial, Vogt-Koyanagi-Harada syndrome, Vohwinkel syndrome, Von Hippel-Lindau syndrome, Vulvar cancer, Vulvar Vestibulitis Syndrome

Rare Diseases and Disorders – Starting With “W”

Waaler Aarskog syndrome, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Waardenburg syndrome type 2B, Waardenburg syndrome type 3, Waardenburg syndrome  type 4, Wagner syndrome, WAGR syndrome, Walbaum Titran Durieux Crepin syndrome, Waldenstrom macroglobulinemia, Waldmann disease, Walker Dyson syndrome, Walker-Warburg syndrome, Wallenberg syndrome, Wallerian degeneration, Wandering spleen, Warburg micro syndrome, Warfarin syndrome, Warm-reacting-antibody hemolytic anemia, Warman Mulliken Hayward syndrome, Warthin’s tumor, Waterhouse-Friderichsen syndrome, Watermelon stomach, Watson syndrome, WDHA syndrome, Weaver Johnson syndrome, Weaver like syndrome, Weaver syndrome, Weaver Williams syndrome, Weber syndrome, Webster Deming syndrome, Wegener’s granulomatosis, Wegmann Jones Smith syndrome, Weill-Marchesani syndrome, Weinstein Kliman Scully syndrome, Weissenbacher-Zweymuller syndrome, Welander distal myopathy Swedish type, Weleber Hecht Bigley syndrome, Wellesley Carmen French syndrome, Wells Jankovic syndrome, Wells syndrome, Werner’s syndrome, Wernicke-Korsakoff syndrome, West nile encephalitis, West nile virus, West syndrome, Western equine encephalitis, Westphal disease, Weyers acrofacial dysostosis, Weyers ulnar ray/oligodactyly syndrome, WHIMS, Whipple disease, Whispering dysphonia  hereditary, Whistling face syndrome  recessive form, Whitaker syndrome, White forelock with malformations, White matter hypoplasia corpus callosum agenesia  and mental retardation, White platelet syndrome, White sponge nevus of cannon, Whooping cough, Wieacker syndrome, Wiedemann Grosse Dibbern syndrome, Wiedemann Oldigs Oppermann syndrome, Wiedemann Opitz syndrome, Wildervanck syndrome, Wilkes Stevenson syndrome, Wilkie Taylor Scambler syndrome, Willems De vries syndrome, Williams syndrome, Wilms tumor and radial bilateral aplasia, Wilms’ tumor, Wilson disease, Wilson-Mikity syndrome, Wilson-Turner X-linked mental retardation syndrome, Windblown hand, Winkelman Bethge Pfeiffer syndrome, Winship Viljoen Leary syndrome, Winter Harding Hyde syndrome, Wisconsin syndrome, Wiskott Aldrich syndrome, Witkop syndrome, Wittwer syndrome, Wolf-Hirschhorn syndrome, Wolff-Parkinson-White syndrome, Wolffian tumor, Wolfram syndrome, Wolman disease, Woodhouse Sakati syndrome, Woods Black Norbury syndrome, Woolly hair hypotrichosis everted lower lip and outstanding ears, Woolly hair syndrome, Worster Drought syndrome, Wright Dyck syndrome, Wrinkly skin syndrome, WT limb blood syndrome, Wyburn Mason’s syndrome

Rare Diseases and Disorders – Starting With “X”

X chromosome  monosomy Xp22 pter, X chromosome monosomy Xq28, X chromosome  trisomy Xq, X-linked adrenal hypoplasia congenita, X-linked agammaglobulinemia, X-linked hypohidrotic ectodermal dysplasia, X-linked ichthyosis, X-linked mental retardation and macro-orchidism, X-linked mental retardation craniofacial abnormal microcephaly club, X-linked mental retardation De silva type, X-linked mental retardation Gustavson type, X-linked mental retardation type Martinez, X-linked mental retardation type Raynaud, X-linked mental retardation type Schutz, X-linked mental retardation type Wittwer, X-linked periventricular heterotopia, X-linked severe combined immunodeficiency, Xanthinuria type 1, Xanthinuria type 2, Xanthogranulomatous cholecystitis, Xanthogranulomatous sialadenitis, Xeroderma pigmentosum, Xeroderma pigmentosum type 7, Xeroderma pigmentosum  type 1, Xeroderma pigmentosum  type 2, Xeroderma pigmentosum  type 3, Xeroderma pigmentosum  type 5, Xeroderma pigmentosum  type 6, Xeroderma pigmentosum  type 9, Xeroderma pigmentosum  variant type, Xeroderma talipes enamel defects, XFE progeroid syndrome, XK aprosencephaly, XY Female

Rare Diseases and Disorders – Starting With “Y”

Y chromosome deletions, Y chromosome pericentric inversion, Yaws, Yellow fever, Yellow nail syndrome, Yemenite deaf-blind hypopigmentation syndrome, Yolk sac tumor, Yorifuji Okuno syndrome, Young Hughes syndrome, Young Simpson syndrome, Young syndrome, Yunis Varon syndrome, Yusho Disease

Rare Diseases and Disorders – Starting With “Z”

Zadik Barak Levin syndrome, ZAP-70 deficiency, Zazam Sheriff Phillips syndrome, Zechi Ceide syndrome, Zellweger syndrome, Zerres Rietschel Majewski syndrome, Zlotogora syndrome, Zollinger-Ellison syndrome, Zori Stalker Williams syndrome, Zunich neuroectodermal syndrome, Zuska’s disease, Zygomycosis

Rare Diseases and Disorders – Starting with “Numbers”

11-beta-hydroxylase deficiency, 15q13.3 microdeletion syndrome, 16p11.2 deletion syndrome, 17-alpha-hydroxylase deficiency, 17-beta hydroxysteroid dehydrogenase 3 deficiency, 17q21.31 microdeletion syndrome, 18 Hydroxylase deficiency, 1q21.1 microdeletion syndrome, 2 4-Dienoyl-CoA reductase deficiency, 2-hydroxyethyl methacrylate sensitization, 2-Hydroxyglutaric aciduria, 2-methyl-3-hydroxybutyric aciduria, 2-Methylacetoacetyl CoA thiolase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, 21-hydroxylase deficiency, 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q13.3 deletion syndrome, 2q37 deletion syndrome, 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency, 3 Methylcrotonyl-CoA carboxylase 1 deficiency, 3 methylglutaconic aciduria type I, 3 methylglutaconic aciduria type IV, 3 methylglutaconic aciduria type V, 3-alpha hydroxyacyl-CoA dehydrogenase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, 3-Hydroxyisobutyric aciduria, 3-methylglutaconic aciduria type III, 3p deletion syndrome, 4-hydroxyphenylacetic aciduria, 46 XX Gonadal dysgenesis epibulbar dermoid, 46 XX testicular disorder of sex development, 47 XXX syndrome, 47  XYY syndrome, 49 XXXXX syndrome, 5-Nucleotidase syndrome, 5-oxoprolinase deficiency, 5q- syndrome, 6 alpha mercaptopurine sensitivity, 6-pyruvoyl-tetrahydropterin synthase deficiency, 8p23.1 duplication syndrome

Rare Disease Day 2012 – Spread This Call To Action To Make A Difference!

January 15, 2012 by  
Filed under Featured Stories

Call To Action: Join the RARE team on Facebook!

World Rare Disease Day 2012 is coming up on February 29th.  Consider these staggering statistics.

  • Each year, 139 BILLION U.S. dollars are invested in medical research — much of it from tax payers
  • Each year, 800,000 papers are published in medical journals by scientists
  • Each year on average, ONLY 21 new drugs are approved by the FDA for all diseases

Only 21 FDA approved new drugs per year after all this money and research effort?!  Does anyone else think that something is seriously wrong? Thanks to the Myelin Repair Foundation and Scott Johnson for creating this amazing video outlining these shocking statistics.

1 in 10 Americans are affected by some type of a rare disease. That’s a huge number of people – 30 million according to the NIH. The  amount of drug approvals for the entire rare disease community each year is extremely low – potentially only 5 or so drugs a year out of the 21 total drugs the FDA approves.  To date, only 5% of rare diseases have a treatment!  For 95% of rare diseases, there is not a single approved treatment.

There are 7,000 different types of rare diseases – from Amyotrophic Lateral Sclerosis (Lou Gehrig disease) to Ewing’s Sarcoma to Friedreich’s Ataxia to Cystic Fibrosis to Hemophilia to Krabbe disease to Langerhans Cell Histiocytosis.  My twins have a fatal rare disease called Niemann Pick Type C and are currently fighting for their lives.

Please help people with rare diseases today by taking action to raise awareness for all people who have no treatments, let alone cures.


— Join the “1 Million for Rare Disease ” awareness movement by displaying the 1 Million Logo on to your website or Facebook page.  Write about how a rare disease you or a loved one suffers from impacts your family.

— “Like” the Global Genes Project on Facebook:

— Get involved with the Rare Project and Global Genes Project and spread the word to your social network

— Write tweets: @GlobalGenes. Use: #1Mil4RARE

— Wear Jeans and a Denim Ribbon on Rare Disease Day and consider holding a “jeans party” to raise money for your rare disease

— Get a Denim Ribbon Kit from the Global Genes Project and make blue ribbons to spread  awareness.  Contact to order ribbons or kits.

— Tell friends and family about this awareness campaign by forwarding this blog, re-posting on Facebook, etc.  Just as the breast cancer community has come together, we need supporters to join together to demand action and change.

Please consider spreading my “call to actions” and join the effort to raise awareness during the month of February.  Write a blog like mine that lists other rare diseases to help spread awareness.

Hope – It’s in our Genes!



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