| Document Date: 2010-09-09 06:27:05
Open Document File Size: 390,01 KBShare Result on Facebook
City Boston / Philadelphia / Alport / Guadalajara / / Company Budd / Medline / 3M / Carpenter / Siemens / Von Willebrand / Kendall / / Continent Europe / / Country Cyprus / Canada / Poland / / / Facility arch Cryptosporidiosis / / IndustryTerm e-medicine / rubber bleb nevus / Search strategy / search algorithm / / MedicalCondition microcephaly / families Beta-ureidopropionase deficiency / families Allan-Herndon-Dudley syndrome / Chronic B-cell / congenital heart disease / recessive cerebellar ataxia saccadic intrusion / late onset sensorineural deafness / Bowen-Conradi syndrome / retinopathy cleft palate / Bernard-Soulier syndrome Best disease / cases Acro-renal-ocular syndrome / cases Acro-pectoral syndrome / Acromegaly / hip spine disease / XX disorder / Blomstrand type Chordoma Choroideremia Cole-Carpenter syndrome / Aarskog-Scott syndrome / Aplasia cutis congenita / Atypical Rett syndrome / Bruck syndrome / choanal atresia / intrauterine infection-like syndrome / erythropoietic porphyria / Curry-Jones syndrome / Alagille syndrome / perceptive deafness / polyneuropathy / Antecubital pterygium syndrome / esotropia / Capra-DeMarco syndrome / XI deficiency / Cohen syndrome / coloboma / hydrocephaly / tuberous sclerosis / integrin alpha2-beta1 deficiency / Blue rubber bleb nevus Bone tumor / recessive malignant osteopetrosis / Chediak-Higashi syndrome / X deficiency / Atrial tachyarrhythmia / cases Carnitine-acylcarnitine translocase deficiency / Aconitase deficiency / Anisakiasis Al-Gazali-Dattani syndrome / Acroosteolysis / Congenital toxoplasmosis / Cushing disease / Clouston syndrome / scoliosis / Bangstad syndrome / families CHILD syndrome / families Bullous pemphigoid / Cobb syndrome / lipodystrophy / Creutzfeldt-Jakob disease / Adult Still's disease / Amniotic bands / cardiomyopathy / Carpotarsal osteochondromatosis Castleman disease / Bakrania-Ragge syndrome / Cystinosis / lentiginosis / CADASIL syndrome / leukoma / intestinal lymphangiectasia Aplasia cutis congenita / Charcot-Marie-Tooth disease / Brachydactyly - arterial hypertension / Cap myopathy / rhizomelic syndrome / dominant familial hematuria retinal arteriolar tortuosity / diabetes / arteriovenous fistula / Amyloidosis / cases Coxo-podo-patellar syndrome / Chronic granulomatous disease / lethal erythroderma / dominant polycystic kidney disease / macrostomia syndrome / familial neonatal-infantile seizures / dominant spastic paraplegia / Bonnemann-Meinecke-Reich syndrome / cases Cerebro-oculo-nasal syndrome / families Alopecia / cases Branchio-skeleto-genital syndrome / Cooper-Jabs syndrome / thyroid carcinoma / cleft palate / Book syndrome / Anaplastic large cell lymphoma / Combined deficiency / erythroderma Classic Ehlers-Danlos syndrome / diseases / CHARGE syndrome Cataract cardiomyopathy / Ambras syndrome / pulmonary lymphangiectasia / epilepsy / cases Arthrogryposis-like hand anomaly sensorineural deafness / Cockayne syndrome / deficiency / Blepharonasofacial malformation syndrome / sucrase-isomaltase deficiency / malabsorptive diarrhea / Anencephaly / antitrypsin deficiency / Budd-Chiari syndrome / Cutis laxa / Bronchopulmonary dysplasia / Antisynthetase syndrome / BOR syndrome / cases Blepharo-facio-skeletal syndrome / congenita keratosis / Cabezas syndrome / integrin deficiency / family Barber-Say syndrome / Central neurocytoma / cases Amelo-cerebro-hypohidrotic syndrome / sex development adrenal insufficiency / Collagenous colitis / Branchiogenic deafness syndrome / Berardinelli-Seip congenital lipodystrophy / XIII deficiency / Aortic aneurysm syndrome / Adenosine monophosphate deaminase deficiency / Craniodigital syndrome / Bartsocas-Papas syndrome Bartter syndrome / hepatic porphyria / cases Acro-renal-mandibular syndrome / Arterial tortuosity syndrome / families Albinism / heart disease / Achromatopsia / Alopecia / Cogan syndrome / intermittent porphyria / II deficiency / dominant medullary cystic kidney disease / dominant osteopetrosis / facial-neuromusculoskeletal syndrome / Carey-Fineman-Ziter syndrome / Blepharoptosis / sensorineural hearing loss / Capillary leak syndrome / Diseases name Chondrodysplasia punctata / dominant limb-girdle muscular dystrophy / Bazex syndrome Bazex-Dupre-Christol syndrome Beckwith-Wiedemann syndrome Diseases / Agammaglobulinemia - microcephaly craniosynostosis / Acrodermatitis / family CACH syndrome / recessive limb girdle muscular dystrophy / CDG syndrome / families Antley-Bixler syndrome / promyelocytic leukemia / Bamforth syndrome / cleft lip / Cardiocranial syndrome / Bardet-Biedl syndrome / recessive cerebellar ataxia blindness / hearing loss / Alpha-mannosidosis / Adenylosuccinate lyase deficiency / families Diseases name Cholesteryl ester storage disease / Blindness / Buttiens-Fryns syndrome / Acquired epidermolysis bullosa / ataxia / cerebellar ataxia / Craniorachischisis / Acquired hypertrichosis / lymphedema / TAP deficiency / Disease / cataracts / Cronkhite-Canada syndrome Crouzon disease / Buschke-Ollendorff syndrome / Acatalasemia / lobar emphysema / imperforate anus / scoliosis hearing loss / dominant optic atrophy / Congenital hypothyroidism / XY disorder / families Craniosynostosis / lateral sclerosis / cases Blepharo-cheilo-odontic syndrome / CINCA syndrome / methionine adenosyltransferase deficiency / cases CHAND syndrome / Acanthamoeba keratitis / cases Criss-cross heart / XY gonadal dysgenesis / Christ-Siemens-Touraine syndrome / Acrorenal syndrome / Congenital Rubella syndrome / diabetes epilepsy / recessive spastic paraplegia / lamine A/C deficiency / families Cataract / Cantu syndrome / hypertrichosis / family Ascher syndrome / amelia / cases Branchio-oculo-facial syndrome / dominant severe congenital neutropenia / Congenital osteogenesis imperfecta / families Ballard syndrome / intellectual deficit hypogonadism / cataract / Argininemia Autism / syndrome / Behcet disease / Congenital ichthyosis / Aicardi syndrome / dihydroxyadenine urolithiasis / jaw cysts / myopia / neuroendocrine carcinoma / families ADULT syndrome / Cushing syndrome / Acrocraniofacial dysostosis 3M / ectodermal dysplasia / lymphocytic leukemia / rare diseases / Celiac disease / Alexander disease / Congenital adrenal hyperplasia / facial appearance syndrome / syndactyly / coloboma telecanthus Albers-Schönberg osteopetrosis / Cutaneous mastocytosis / severe dermatitis / Amaurosis / intellectual deficit corneal opacities / cases Antley-Bixler-like syndrome / Acrofacial dysostosis / Buerger's disease / Ackerman syndrome / diaphragmatic hernia / Catel-Manzke syndrome / Carbamoylphosphate synthetase deficiency / disintegrative disorder / Cutaneous lupus / Bencze syndrome / Aase-Smith syndrome / disorder / CEDNIK syndrome / hypogonadism / Auriculoosteodysplasia Arachnodactyly / cavus optic atrophy / Acquired hemophilia / Cystic hamartoma / Cortical blindness / Craniopharyngioma / glutamine synthetase deficiency / paroxysmal torticollis / Congenital enterocyte heparan sulfate deficiency / Chronic autoimmune hepatitis / lymphedema ANE syndrome Aicardi-Goutieres syndrome / Bethlem myopathy Bickel-Fanconi glycogenosis / Bilateral striopallidodentate calcinosis Biliary atresia / lymphoblastic leukemia / Björnstad syndrome Blackfan-Diamond disease / cases Aniridia-intellectual deficit syndrome / Costello syndrome / dyserythropoietic anemia / cases Cataract-microcornea syndrome / Autism - facial port-wine stain / Cerebral gigantism / Alpha-N-acetylgalactosaminidase deficiency Alport syndrome Alström syndrome / cases Albinism-deafness syndrome / family Cataract / Chronic / cases Acro-fronto-facio-nasal dysostosis / Churg-Strauss syndrome / Crigler-Najjar syndrome / dominant Charcot-Marie-Tooth disease / arthrogryposis / lethal colitis Corticosteroid-sensitive aseptic abscesses Cowden syndrome / Aniridia - cerebellar ataxia / hypertrichosis Acromegaly / VI deficiency / palate-lateral synechia syndrome / Alkaptonuria / Angelman syndrome / synthase deficiency / Adrenocortical carcinoma / osteopetrosis / family Aniridia / Coronary artery disease / recessive ataxia / pulmonary valve stenosis / muscle and heart glycogen deficiency / hallux varus / CLAPO syndrome / cases Cat-eye syndrome / contractures / dominant pterygium popliteal syndrome / Abruzzo-Erickson syndrome / Atrial septal defect / Acute myeloid leukemia / Cholestasis / ectopia lentis / Amoebiasis / COACH syndrome Coats disease Congenital cataracts / each rare disease / lymphoproliferative syndrome / recessive Apnea / dextrocardia / muscular dystrophy / VII deficiency / Banki syndrome / dysplasia Bloom syndrome / dominant diffuse palmoplantar keratoderma / cases Anophthalmia / recurrent pancreatitis / Arachnodactyly / interstitial pneumonia / Aniridia / dominant hyper IgE syndrome / intellectual deficit familial obesity / zinc deficiency / cases Angio-osteohypertrophic syndrome / Camptodactyly syndrome / cases Cold-induced sweating syndrome / Congenital Leber amaurosis / Carcinoma / Cervical hypertrichosis / excess fingertip arch Cryptosporidiosis / Alpha thalassemia / Char syndrome Caroli disease / holoprosencephaly / Congenital fibrinogen deficiency / Blepharophimosis / Cardiac conduction disease / cases Ataxia-deafness-retardation syndrome Ataxia-telangiectasia / Beta-mannosidosis Beta-thalassemia / Choroideremia / deafness / families Diseases / encephalopathy / obesity / families Diseases name Acrocallosal syndrome / CoA synthase deficiency / Brown-Vialetto-van Laere syndrome / diseases Diseases / dominant multiple pterygium syndrome / vertebral hyperostosis / Achondroplasia / tachycardia / hemolytic uremic syndrome / CAMOS syndrome / joint hypermobility arterial tortuosity Apert syndrome Diseases / Cystic fibrosis / Arthrogryposis - renal dysfunction cholestasis / AREDYLD syndrome / esophageal atresia / Bosley-Salih-Alorainy syndrome Botulism / Cholangiocarcinoma Cat-scratch disease / Craniosynostosis / cases Corneal-cerebellar syndrome / recessive limb-girdle muscular dystrophy / Alpers syndrome / cases Cerebro-costo-mandibular syndrome / Cutaneous T-cell lymphoma / Brugada syndrome / renal failure syndrome / family Arthrogryposis / congenital diseases / quadriplegia / tylosis Alopecia- epilepsy / Cystinuria / Brain demyelination / acute respiratory distress syndrome / mental deficiency / Chylomicron retention disease / V deficiency / Coxoauricular syndrome / short costocoracoid ligament Cornelia de Lange syndrome Diseases / rare disease / Congenital myasthenic syndromes / Braddock syndrome / dwarfism / dysmorphism Kallmann syndrome / Common variable immunodeficiency / Adamantinoma / acanthosis nigricans / CODAS syndrome Coffin-Lowry syndrome Coffin-Siris syndrome COFS syndrome / inflammatory demyelinating / Tooth disease / polydactyly / families Alveolar echinococcosis / Craniofacial-deafness-hand syndrome / Chronic myeloid leukemia / Schinzel type 3C syndrome / recessive medullary cystic kidney disease / hyperlipidemia hypertension / families Camptodactyly syndrome / Anophthalmia / recessive polycystic kidney disease / / Person Cornelia de Lange / / Position COACH / / Product Bang & Olufsen Form 2 Headphone/Headset / Sennheiser IE 7 Headphone/Headset / triad / Adenosine / / ProvinceOrState Abruzzo / / Technology Alpha / pdf / search algorithm / consulted using the search algorithm / / URL http /
SocialTag |
Orphanet Report Series Prevalence distribution of rare diseases[removed]