| Document Date: 2013-10-21 08:05:01
Open Document File Size: 1,20 MBShare Result on Facebook
City Houston / Santos / Alport / / Company ADP / PXE 2500 Acrogeria / ACS / Von Willebrand / CDI 99736 Acetazolamide / Thomson / 3M / C1 / Acrodysplasia 254395 Actinic LP / AMP / Gronblad / Annular LP / Annular atrophic LP / HbH / / Country Guam / / Currency ADP / pence / SVC / / Facility Aortic arch / / MedicalCondition nemaline myopathy / non-herpetic encephalitis / Alpha-ketoglutarate dehydrogenase deficiency / Adult progeria / PDA / 3A syndrome / Allgrove syndrome / Adult-onset chronic progressive external ophthalmoplegia / Alström syndrome / Adult-onset polymyositis / Agnogenic myeloid metaplasia / AP4 deficiency syndrome / Anaplastic astrocytoma / persistent papular mucinosis / Apert syndrome / brachial plexus neuritis / Anaplastic ependymoma / hydrops fetalis / cholelithiasis / Al Awadi-Raas-Rothschild syndrome / Abetalipoproteinemia / myelodysplastic syndrome / 9p13 microdeletion syndrome / Adult Rathburn disease / Ampulla cardiomyopathy / neonatal citrullinemia type / ADSL deficiency / Aarskog-Ose-Pande syndrome / Akaba-Hayasaka syndrome / Acromegaly / Anisakiasis / XX disorder / Anal fistula / Aarskog-Scott syndrome / Aplasia cutis congenita / intestinal botulism / ALS / Leigh-like syndrome / CoA racemase deficiency / thrombotic thrombocytopenic purpura / CoA hydratase deficiency / ORPHA Disease name Number ORPHA Disease name Number ORPHA Disease / Alagille syndrome / Adult GM2 gangliosidosis / duplication/deletion syndrome / Ackerman dermatitis syndrome / pure motor Guillain-Barré syndrome / neurogenic diabetes insipidus / Antecubital pterygium syndrome / complex deficiency / 15q11-q13 duplication syndrome / 4H syndrome / hydroxylase deficiency / myelosclerosis / ALG6-CDG syndrome / Adrenomyodystrophy Adult-onset dermatomyositis / Acquired prothrombin deficiency / polyglucosan body disease / multiple sclerosis / Adult T-cell leukemia/lymphoma / phosphatase deficiency / ACY1D Acute myeloid leukemia / Aconitase deficiency / Anti-SRP myopathy / myelomonocytic leukemia / Acroosteolysis / Anterior encephalocele / Ampullary carcinoma / Alpha thalassemia - X-linked / subcapsular cataract / Amelo-cerebro-hypohidrotic syndrome / uveitis syndrome / Arachnoiditis / microdeletion syndrome / oxidoreductase deficiency / leukemia / resistance muscle cramps / Adult-onset nemaline myopathy / myofibrillar myopathy / Adenosarcoma / Adiposis dolorosa / XY partial gonadal dysgenesis / Apple peel syndrome / acid dioxygenase deficiency 4p- syndrome / Adult-onset SAPHO syndrome / Adult Still's disease / Amniotic bands / Alpha delta granule deficiency / 3q26-q27microdeletion syndrome / Activation-induced cytidine deaminase deficiency / ALG1-CDG syndrome / 3C syndrome / intestinal toxin-mediated botulism / 20p13 microdeletion syndrome / Agammaglobulinemia / different diseases / Alfi syndrome / pulmonary Langerhans cell histiocytosis / Alopecia-intellectual deficit syndrome / hepatocellular carcinoma / Antenatal multiminicore disease / ALG12-CDG syndrome / Adult-onset GM1 gangliosidosis / 10q24 microduplication syndrome / amyloidosis / 3q29 microdeletion syndrome / macrostomia syndrome / Alpha-L-fucosidase deficiency / 2p21 microdeletion syndrome / Allain-Babin-Demarquez syndrome / thyroid carcinoma / Alpha heavy-chain disease / anaplastic large cell lymphoma / encephalitis / myositis / muscle disease / diseases / dehydrogenase deficiency / 15q11q13 microduplication syndrome / sudden deafness / 3q29 microduplication 2q24 microdeletion syndrome / epilepsy / deficiency / 6q25 microdeletion syndrome / ACY2 deficiency / torsion dystonia / leukemia/lymphoma / Aniridia-intellectual deficit syndrome / 1q41q42 microdeletion syndrome / antenatal infection / status epilepticus / Antenatal Epstein-Barr virus infection / Adult heart tumor / Down syndrome / Adenosylcobalamin deficiency / Acquired Von Willebrand disease / Alpha-thalassemia / Antisynthetase syndrome / Aase syndrome / AK2 deficiency / XXXY syndrome / Andersen syndrome / H disease / Anhidrotic ectodermal dysplasia / Acrocraniofacial dysostosis / ALG3-CDG syndrome / pseudoxanthoma elasticum / 9q subtelomeric deletion syndrome / adhesion mutilation syndrome / verrucous nevus / sex development adrenal insufficiency / refractory repetitive partial seizures / Adhesive arachnoiditis / XX testicular disorder / basophilic leukemia / Ameloblastic carcinoma / Langerhans cell histiocytosis / Aortic aneurysm syndrome / lipoatrophic diabetes / Adenosine monophosphate deaminase deficiency / encephalomyelitis / myelodysplastic syndromes / Anderson disease / Adams-Oliver syndrome / aldosterone synthase gene Aldred syndrome / hepatic porphyria / primary progressive aphasia / ADAM syndrome / XY ovotesticular disorder / 14q12 microdeletion syndrome / XX syndrome / biphenotypic leukemia / 15q11-q13 microduplication syndrome / intestinal colonization botulism / Aagenaes syndrome / Achromatopsia / Alopecia / gonadal dysgenesis / intermittent porphyria / Adult-onset multiple mtDNA deletion syndrome / XYY syndrome / 2q37 microdeletion syndrome / Allan-Herndon-Dudley syndrome / sensorineural hearing loss / Albers-Schönberg osteopetrosis / APECED syndrome / cardiodysrhythmic periodic paralysis Aniridia - cerebellar / Agammaglobulinemia - microcephaly craniosynostosis / Acrodermatitis / spastic ataxianeuropathy syndrome / Åland Islands eye disease / ANOTHER syndrome / promyelocytic leukemia / syndrome Al Gazali-Lytle syndrome Al Gazali-Nair syndrome / Angio-osteohypertrophic syndrome / AD hypocalcemia Acute myeloid leukemia / LHB deficiency / cleft lip / Andersen-Tawil syndrome Aniridia / basal carcinoma / hearing loss / pulmonary artery / DGKE deficiency / Acromesomelic dwarfism / bronchopulmonary aspergillosis / Alpha-mannosidosis / 17b-hydroxysteroid dehydrogenase deficiency / ANE syndrome / Aarskog-like syndrome / deaminase deficiency / Anderson-Fabry disease / Adenylosuccinate lyase deficiency / HPPD deficiency / 4A syndrome / Acquired epidermolysis bullosa / ataxia / Alpha-methyl-acyl-CoA racemase deficiency / Aprosencephaly / 9q21 microdeletion syndrome / idiopathic scoliosis / Ahn-Lerman-Sagie syndrome / Acral dysostosis / Alkaptonuria Alagille-Watson syndrome / CoA dehydrogenase deficiency / lymphedema / secondary erythrocytosis / Acquired hypertrichosis / disease / Acquired Gronblad-Strandberg-Touraine syndrome / 17q12 microduplication syndrome / Angio-osteohypotrophic syndrome / Acatalasemia / Andermann syndrome / Alopecia - intellectual deficit hypergonadotropic hypogonadism / imperforate anus / neuronopathic Gaucher disease / Anguilluliasis / dense granule deficiency Alpha-thalassemia / XY disorder / Acquired neuromyotonia / AIDP / lateral sclerosis / 5q35 microduplication syndrome / 8q13 microdeletion syndrome / Acanthamoeba keratitis / XY gonadal dysgenesis / Acrorenal syndrome / Acute inflammatory polyneuropathy / ALG13-CDG syndrome / Acanthoma / 8p11 myeloproliferative syndrome / hypertrichosis / Amelia / pulmonary veins / Aneurysm - osteoarthritis syndrome / Anemia / infantile epilepsy syndrome / cataract / syndrome / APRT deficiency / Androblastoma / Aberfeld syndrome / Aicardi syndrome / Andersen disease Aniridia - ptosis / dihydroxyadenine urolithiasis / Adynamia episodica hereditaria / myopia / Alves-dos Santos-Castelo syndrome / 6q16 deletion syndrome / Aggressive NK-cell leukemia / panautonomic Guillain-Barré syndrome / anosmia / Adenovirus infection / Algodystrophy / ectodermal dysplasia / interstitial pneumonitis / lymphocytic leukemia / Adipose tissue rheumatism / XY pure gonadal dysgenesis / rare diseases / infantile liver failure / Alexander disease / Alpha-N-acetylgalactosaminidase deficiency / motor-sensory axonal Guillain-Barré syndrome / embryopathy syndrome / facial appearance syndrome / familial polyposis coli / syndactyly / Adenylosuccinase deficiency / ectodermal dysplasia diabetes / severe dermatitis / Adrenomyeloneuropathy / Amaurosis / ALG2-CDG syndrome / Ancylostomiasis / Fallot's tetralogy / Acrofacial dysostosis / Aganglionic megacolon / polar cataract / neuronal ceroid lipofuscinosis / lichen planus / 3q subtelomere deletion syndrome / Ackerman syndrome / Adult-onset Alpha-Nacetylgalactosaminidase deficiency / pulmonary valve / AADC deficiency / Amylopectinosis / 12q14 microdeletion syndrome / pure sensory Guillain-Barré syndrome / chronic recurrent multifocal osteomyelitis / ALDH18A1-related DeBarsy syndrome / hereditary osteodystrophy-like syndrome / Acro-pectoral syndrome / Ankylosis / 15q11q13 duplication syndrome / deletion syndrome / joint hypermobility / Arachnoid cyst / ALG11-CDG syndrome / Aase-Smith syndrome / Adult-onset multiple mitochondrial DNA deletion syndrome / arch syndrome / Alopecia antibody deficiency / retardation syndrome / hypogonadism / poisoning / AMME syndrome / Ia Alopecia / 17q12 microdeletion syndrome / tubulointerstitial nephritis / Apolipoprotein AI amyloidosis / DGUOK deficiency / Acquired hemophilia / 7q31 microdeletion syndrome / idiopathic torsion dystonia / myelofibrosis / non-lymphoblastic leukemia / Adenocarcinoma / Adrenal insufficiency / Adult-onset primary lateral sclerosis / APS1 Anophthalmia / 5p13 microduplication syndrome / undifferentiated leukemia / microduplication syndrome / lymphoblastic leukemia / megakaryoblastic leukemia / Ampola syndrome / 6p25 microdeletion syndrome / unilateral Achondroplasia / Anaplastic oligodendroglioma / Antinolo-Nieto-Borrego syndrome / XX ovotesticular disorder / 2q32-q33 microdeletion syndrome / Alobar holoprosencephaly / duplication syndrome / coloboma telecanthus / Aicardi-Goutières syndrome / Adult-onset citrullinemia type / Adult-onset citrin deficiency / beta-glucosidase deficiency / Acro-renal-ocular syndrome / Acoustic neuroma / 1q44 microdeletion syndrome / clubfoot syndrome / Alpha storage pool deficiency / host disease / Alpers-Huttenlocher syndrome / Adair-Dighton syndrome / arthrogryposis / 6p subtelomeric deletion syndrome / 15q24 microdeletion syndrome / ventricular septal defect / hormone beta subunit deficiency / 15q14 microdeletion syndrome / Angelman syndrome / 14q22-q23 microdeletion syndrome / myelodysplasia / systemic mastocytosis / ALG9-CDG syndrome / lung injury / Angioma / XX gonadal dysgenesis / synthase deficiency / Adrenocortical carcinoma / osteopetrosis / mitochondrial myopathy / Al Gazali-Al Talabani syndrome / 10p12p11 microdeletion syndrome / Aldosterone synthase deficiency / situs inversus / contractures / 3q13 microdeletion syndrome / Acoustic neurilemoma / Amniotic deformity / Adult-onset proximal spinal muscular atrophy / Abruzzo-Erickson syndrome / Adult-onset CPEO / myeloblastic leukemia / Albinism-deafness syndrome Alopecia / monoblastic leukemia / Acquired ichthyosis / angioedema type / acute acoustic trauma / angioneurotic edema / AEC syndrome / Amoebiasis / 17q11 microdeletion syndrome / esophageal-genital syndrome / Alliance Maladies Rares Orphanet Report Series Rare Diseases / transverse myelitis / brittle hair syndrome / Adult-onset synovitis-acne-pustulosishyperostosis-osteitis syndrome / AIDS wasting syndrome / XXYY syndrome / 3MC syndrome / 2A syndrome / Apolipoprotein A-I deficiency / Acrocallosal syndrome / CoA lyase deficiency / Aneurysm / Acro-oto-ocular syndrome / AR dRTA wth deafness / Anaphylactoid purpura / ALAD porphyria / erythroid leukemia / Adrenocorticotropic hormone secretion syndrome / Aphonia / recurrent infections / liver failure / Ameloblastoma / Arachnodactyly / Aniridia / interstitial pneumonia / Angiosarcoma / aneurysmal subarachnoid hemorrhage / intellectual deficit familial obesity / familial adenomatous polyposis / mast cell leukemia / arachnoid cyst Aarskog syndrome / ADA deficiency Acute myeloid leukemia / Adult-onset distal myopathy / hemiplegia / intellectual deficit syndrome / Acoustic neurinoma / Acrania / 4q21 microdeletion syndrome / Alpha thalassemia / 2q32q33 microdeletion syndrome / alphabetical order ORPHA Disease name Number ORPHA Disease name Number ORPHA Disease / 1p36 deletion syndrome / holoprosencephaly / X syndrome / Adenine phosphoribosyltransferase deficiency / 8q12 microduplication syndrome / Amyoplasia congenita / reductase deficiency / deafness / encephalopathy / AMACR deficiency / CoA synthase deficiency / pulmonary vessels / Acute myeloblastic leukemia / ADP platelet receptor P2Y12 deficiency / epidermolysis bullosa / deafness hypogonadism / vertebral hyperostosis / Achondroplasia / ARC syndrome / Angiokeratoma corporis diffusum / hormone subunit beta deficiency / Absence deformity / Adult Bartter syndrome / Alpha-L-iduronidase deficiency / endocrine tumor / Acid phosphatase deficiency / acid deficiency / Acro-renal-mandibular syndrome / central diabetes insipidus / lyase deficiency / ACRP syndrome / African trypanosomiasis / ACTH-independent macronodular adrenal hyperplasia Actin myopathy / Alpers syndrome / idiopathic sideroblastic anemia / Addison disease / ADULT syndrome / renal failure syndrome / XXXYY syndrome / XXXXY syndrome / Antenatal Bartter syndrome / Amelogenesis imperfecta / intestinal toxemia botulism / Alopecia-epilepsy-oligophrenia syndrome / I syndrome / XX pure gonadal dysgenesis / Alveolar rhabdomyosarcoma / Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia / AID deficiency / Apolipoprotein AII amyloidosis / acoustic trauma / 3q26 microduplication syndrome / acute respiratory distress syndrome / kinky hair syndrome / 6p22 microdeletion syndrome / ALG8-CDG syndrome Alpha thalassemia / Allergic aspergillosis / myeloid leukemia / cystic carcinoma / Adult Krabbe disease / dwarfism / Apnea / XYYYY syndrome / Androgen resistance syndrome / Al Awadi-Farag-Teebi syndrome / Alagille-Watson syndrome / Adamantinoma / Acanthosis nigricans / myelogenous leukemia / AAA syndrome / 15q overgrowth syndrome / 3MG-CoA hydratase deficiency / hepatic failure / tylosis / 3q26q27 microdeletion syndrome / Antley-Bixler syndrome / febrile neutrophilic dermatosis / gingival hyperplasia syndrome / inflammatory demyelinating / Alpha-methyl-acetoacetyl-CoA thiolase deficiency / 14q22q23 microdeletion syndrome / Anodontia / SCID / polydactyly / Aplasia cutis congenita verticis / fatty liver / epibulbar dermoids / African tick typhus / 9p deletion syndrome / Anti-C1q vasculitis / ABPA / CYP11A1 deficiency / Anophthalmia / Acro-fronto-facio-nasal dysostosis / / MedicalTreatment surgery / radiation / AID / / NaturalFeature ALPS / American mountain / Åland Islands / / OperatingSystem Ose / / Person Dohi Acute / Al Gazali-Nair / / Product Acetazolamide / fluorouracil / ACTH / Adenosine / / ProvinceOrState Abruzzo / Marche / / Technology radiation / ADSL / PDA / alpha / antibodies / pdf / DSD / artificial intelligence / ADAM / PHP / / URL www.orpha.net / http /
SocialTag |
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection December