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Euro Orphan Drugs 2018

About Conference


Conference Series is proud to host the 8th World congress on Rare Diseases & Orphan Drugs (Euro Orphan Drugs 2018) during November 21-22, 2018 at Paris-France. This upcoming European Orphan Drug Conference is designed on the theme “Challenges & Opportunities in Orphan Drugs Development: Commercialisation, Policies, Reimbursement, and Pricing “.

This Rare Diseases & Orphan Drugs Conference aims to provide the best platform to all the researchers working in Rare Diseases & Orphan Drugs Research, Orphan Drugs developers, Healthcare sector, regulatory & health authorities, patient organisations, patient advocacy, Clinical Trials & Research, and public policy individuals.

This Orphan Drugs & Rare Diseases Congress 2018 Europe will offer a proper platform will provide a unique platform for all the stakeholders in the Orphan Drug Industry sector to discuss current issues, trends and innovations in Rare Diseases Research & Orphan Drugs development and to network with hospitals, Research labs, Pharma-Biopharma Companies, Orphan Drugs developers, and non-profit organizations etc.

This Orphan Drugs Congress 2018 composed of extended scientific sessions, Plenary sessions, Oral Presentations, Industry oriented sessions, Poster Presentations, Exhibitor sessions, Workshops, Symposiums, Young Research Forums, Videos Presentations and e-Poster Presentations etc.

 

Who Should Attend & Why?

The Euro Orphan Drugs 2018 Conferences  bring together the senior level attendees and speakers from both academia, clinical research institutes, Clinical laboratories, Hospitals and from the top Biopharmaceutical companies from across the globe. Participants includes Directors, Deans, Research Professors, VPs, CTOs, Laboratory heads, Drug Developers, Clinical Trials Researchers, clinical trials sponsors, CROs, Medical doctors, & Researchers working in the sector of:

  • Drug Discovery & Development
  • Personalized, Translational, Experimental, & Regenerative Medicine
  • Clinical Trials & Clinical Research
  • Rare & ultra-rare Diseases
  • Genetic Diseases
  • Targeted Therapy, Cell & Gene Therapy
  • Molecular Diagnostics & Diagnostic Product developers
  • Patient Advocacy, Market Access, Pricing & Reimbursement
  • In-Licensing/Out-Licensing
  • Regulatory & Medical Affairs
  • Commercial Development of Drugs
  • Health Economics/Outcomes Research (HEOR)
  • Orphan Foundations/Associations
  • Experts working in Big Data & Digital Health
  • Oncologist and Cancer experts
  • Immunology & Inflammatory Disease
  • Other Rare Disease & Therapy areas of: Neurology, mental health, neuromuscular disorders
  • Patient Organizations
  • HCP & Policy Makers
  • Pharma Industry

Why Attend?

This two days of Orphan Drugs Congress will offer an interactive and most compressive sessions & networking with global experts working in the Rare Disease & Orphan Drugs segment. Orphan Drugs 2018 Paris Congress will help in gaining insights & to upgrade knowledge towards current activities growing globally in the Orphan Drugs sector starting from Laboratory research to field research, clinical trials to orphan drugs development, pricing and reimbursement, commercialization of orphan drugs & regulatory policies etc.

Orphan Drugs 2018 comprises of well organized scientific program stuffed with interactive sessions, one to one discussion rounds, industry academia interaction programs, industrials presentations, special regulatory sessions, and networking sessions.

Get Insights of:

Major Sessions

  • Overview of Rare Diseases & Orphan Drugs
  • Types of Rare Diseases
  • Genetic Rare Diseases
  • FDA approval process of Orphan Drugs Products
  • Challenges in Rare Diseases Diagnosis
  • Rare Diseases Treatment Landscape
  • Orphan Drug Pricing Reimbursement and Patient Access
  • Ethical issues in Funding Orphan Drugs Research and Development
  • Orphan Drugs Development Barriers
  • Orphan Drugs Development: Current Trends & Future
  • Clinical Trials & Clinical Research in Rare Diseases & Orphan Drugs
  • Patient Concerns on Orphan Drugs
  • Legislation & Regulatory policies in Orphan Drugs & Rare Disease Research
  • Funding Opportunities in Rare Disease & Orphan Drugs Research
  • Economical Perspective in Rare Diseases
  • Designating Orphan Products: Drugs and Biologicals
  • Developing Products for Rare Diseases & Conditions

More

Rare Disease & Orphan Drugs Associations/Foundations/Alliances
 
     
  •  Acid Maltase Deficiency Association (AMDA)
  • Acoustic Neuroma Association
  • Acromegaly Community, Inc.
  • ADNP-Kids Research Foundation
  • Adrenal Insufficiency United (AIU)
  • Alagille Syndrome Alliance
  • Alpha-1 Foundation
  • Alport Syndrome Foundation
  • ALS Association
  • Alternating Hemiplegia of Childhood Foundation (AHCF)
  • Essential Blepharospasm Research Foundation
  • Bohring-Opitz Syndrome Foundation
  • Canadian CMTC Foundation
  • Canadian Organization for Rare Disorders
  • Canadian PBC Society
  • Cardio-Facio- American Autoimmune & Related Diseases Association
  • Batten Disease Support and Research Association
  • Benign Cutaneous International (CFC)
  • Daybreak Children’s Rare Disease Fund
  • Desmoid Tumor Research Foundation

 

Rare Disease & Orphan Drugs Companies
 
  • CSL Behring
  • Genentech, Inc.
  • Genzyme
  • GlaxoSmithKline PLC
  • Horizon Pharma
  • Incyte Corporation
  • Jazz Pharmaceuticals PLC
  • LEO Pharma
  • Lundbeck, Inc.
  • MallinckrodtPharmaceuticals 
  • Novartis
  • Pfizer, Inc.
  • Recordati Rare Diseases
  • Regeneron
  • Retrophin, Inc.
  • Sarepta Therapeutics
  • Shire Human Genetic Therapies, Inc.
  • Achillion
  • Aeglea BioTherapeutics
  • Agilis Biotherapeutics

 

List of Rare Disease Registries in Europe

  • EUROFA
  • EUROMAC
  • EUROPAC
  • European Porphyria Registry
  • GPOH-registry sickle cell disease
  • PROGNOSIS
  • SCETIDE
  • Thromboreductin-Registry
  • EURO-WABB
  • ECARUCA
  • CEDATA-GPGE

For more detailsed list PS: European Rare Disease Meetings & Rregistries

List of research infrastructures useful to Rare diseases & orphan Drugs Research in Europe

  • BBMRI-ERIC- Austria
  • EORTC- Belgium
  • APTEEUS- France
  • ECRIN- France
  • ERINHA- France
  • GENETHON- France
  • Orphanet- France
  • OrphanDev- France
  • PHENOMIN- France
  • ChemBioNet- Germany
  • CTSR- Germany
  • EUMINAfab- Germany
  • CIDSTEM- Italy
  • EATRIS- Netherlands
  • ECARUCA- Netherlands
  • SEFALer- Spain
  • INCF-DataSpace- Sweden
  • COMET- UK

For more about the: List of Research Infrastructures in Orphan Drug & Rare Disease Conference & European Research Institutes

Updated List of Orphan Drug Products in Europe

  • ARZERRA
  • BAVENCIO
  • BESPONSA
  • BLINCYTO
  • CARBAGLU
  • CERDELGA
  • CEPLENE
  • DACOGEN
  • DARZALEX
  • DELTYBA
  • FIRAZYR
  • GAZYVARO
  • HETLIOZ

For more details of Clinical trials in Orphan Drugs and Approved Orphan Drugs in Europe, PS: Euro Orphan Drug Conferences 2018 Paris

List of the latest marketing authorisations and Orphan Medicinal Products Designations

Medicinal Product Marketing Authorisation Holder Therapeutic Indication Date of Marketing Authorisation
Alofisel® (darvadstrocel) Tigenix, S.A.U. Complex anal fistulas in adults with Crohn’s disease 23-03-2018
Amglidia® (glibenclamide) Ammtrek Neonatal diabetes 24-05-2018
Crysvita® (burosumab) Kyowa Kirin Limited  X-linked hypophosphataemia  19-02-2018
Jorveza® (budesonide) Dr. Falk Pharma GmbH Eosinophilic oesophagitis 08-01-2018
Lamzede® (velmanase alfa) Chiesi Farmaceutici S.p.A. Alpha-mannosidosis 23-03-2018
Mylotarg® (gemtuzumab ozogamicin) Pfizer Limited Acute myeloid leukemia 19-04-2018
Premyvis® (letermovir) Merck Sharp & Dohme Limited Cytomegalovirus infection prevention following haematopoietic stem cell transplant 08-01-2018
Rubraca® (rucaparib) Clovis Oncology UK Limited High-grade cancers of the ovary, fallopian tubes and peritoneum 24-05-2018

Overview of Orphan Medicinal Product Designation Procedure (2000-2018)

Year Applications submitted Positive COMP opinions Applications withdrawn Negative COMP opinions Designations granted by the Commission Orphan medicinal products authorised Orphan designations included in authorised therapeutic indication
2018 96 69 39 2 73 8 8
2017 260 144 96 2 138 14 15
2016 330 220 82 2 209 14 14
2015 258 177 94 1 190 14 21
2014 329 196 61 2 187 15 16
2013 201 136 60 1 136 7 8
2012 197 139 52 1 148 10 12
2011 166 111 45 2 107 5 5
2010 174 123 51 2 128 4 4
2009 164 113 23 0 106 9 9
2008 119 86 31 1 73 6 7
2007 125 97 19 1 98 13 13
2006 104 81 20 2 80 9 11
2005 118 88 30 0 88 4 4
2004 108 75 22 4 73 6 6
2003 87 54 41 1 55 5 5
2002 80 43 30 2 49 4 4
2001 83 62 27 1 64 3 3
2000 72 26 6 0 14 0 0
Total 3071 2040 828 27 2025 150 162
 
Source: EURORDIS
 
 
 

 

Past Conference Report

Rare Diseases Congress-2018

 

World congress on Rare Diseases & Orphan Drugs, Rare Disease Meeting Europe, Rare Disease Meeting Paris, Rare Disease Meetings USA, Rare Disease Events, Rare Disease Congress, Orphan Drugs Meetings Europe, Orphan Drugs Meeting Paris, Orphan Drugs Events, Orphan Drugs Development, Orphan Drug Discovery Congress, Rare Disease Conferences | Rare Disease Information | Aarskog Syndrome | Abetalipoproteinemia | Ablepharon-Macrostomia Syndrome | Acanthocheilonemiasis | Acanthosis Nigricans | Aceruloplasminemia | Achalasia | Achard Thiers Syndrome | Achondrogenesis | Achondroplasia | Acid Sphingomyelinase Deficiency | Acidemia Isovaleric | Acidemia, Methylmalonic | Acoustic Neuroma | Acquired Aplastic Anemia | Acquired Hemophilia | Acquired Lipodystrophy | Acquired Neuromyotonia | Acrocallosal Syndrome, Schinzel Type | Acrodermatitis Enteropathica | Acrodysostosis | Acromegaly | Acromesomelic Dysplasia | Acromicric Dysplasia | ACTH Deficiency | Acute Disseminated Encephalomyelitis | Acute Eosinophilic Pneumonia | Acute Intermittent Porphyria | Acute Myeloid Leukemia | Acute Respiratory Distress Syndrome | Adams Oliver Syndrome | Addison’s Disease | Adenoid Cystic Carcinoma | Adenylosuccinate Lyase Deficiency | Adie Syndrome | Adrenoleukodystrophy | Adult Neuronal Ceroid Lipofuscinosis | Adult Onset Still’s Disease | Adult Polyglucosan Body Disease | AEC Syndrome | Afibrinogenemia, Congenital | African Iron Overload | Agammaglobulinemia | Agenesis of Corpus Callosum | Agranulocytosis, Acquired | Ahumada-Del Castillo Syndrome | Aicardi Syndrome | AIDS Dysmorphic Syndrome | ALAD Porphyria | Alagille Syndrome | Alexander Disease | Alkaptonuria | Alopecia Areata | Alpers Disease | Alpha Thalassemia | Alpha Thalassemia X-linked Intellectual Disability Syndrome | Alpha-1 Antitrypsin Deficiency | Alpha-Mannosidosis | Alport Syndrome | Alström Syndrome | Alternating Hemiplegia of Childhood | Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins | Alveolar Soft Part Sarcoma | Alveolitis, Extrinsic Allergic | Alzheimer’s Disease | Ameloblastic Carcinoma | Ameloblastoma | Amelogenesis Imperfecta | Amniotic Band Syndrome | Amyloidosis | Amyotrophic Lateral Sclerosis | Anaplastic Astrocytoma | Andersen Disease (GSD IV) | Andersen-Tawil Syndrome | Androgen Insensitivity Syndrome, Partial | Anemia of Chronic Disease | Anemia, Blackfan Diamond | Anemia, Hemolytic, Acquired Autoimmune | Anemia, Hemolytic, Cold Antibody | Anemia, Hereditary Nonspherocytic Hemolytic | Anemia, Hereditary Spherocytic Hemolytic | Anemia, Megaloblastic | Anemia, Pernicious | Anemias, Sideroblastic | Anencephaly | Angelman Syndrome | Angioimmunoblastic T-Cell Lymphoma | Aniridia | Aniridia Cerebellar Ataxia Mental Deficiency | Anodontia | Anthrax | Antiphospholipid Syndrome | Antisynthetase Syndrome | Antithrombin Deficiency | Antley Bixler Syndrome | Apert Syndrome | Aplasia Cutis Congenita | Apnea, Infantile | Appendiceal Cancer and Tumors | Apraxia | 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 | Adenosylhomocysteine hydrolase 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” | return to top | 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 | Batten Disease | 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 | Brooke-Spiegler syndrome | 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 & Disorders Starting With “C” | return to top | C-like syndrome | CADASIL | Cafe au lait spots multiple | Caffey disease | CAHMR syndrome | Calabro syndrome | Calcifying Epithelial Odontogenic Tumor | Calciphylaxis | Calcium Pyrophosphate Dihydrate Desposition Disease | 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-acyl-carnitine 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 0 (zero) | Chiari malformation type 1 | 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 1q21.1 micro duplication | 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 of | 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 | Complex regional pain syndrome | 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 insensitivity to pain with hyperhidrosis | 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 type 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 | Cryopyrin-Associated Periodic syndromes (CAPS) | 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 & Disorders Starting With “D” | return to top | 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 |


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To Collaborate Scientific Professionals around the World

Conference Date Nov 21-22, 2018

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