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List of rare diseases starting with A
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List of rare diseases
This list of
rare diseases
was originally taken from the
NIH
public domain resource
at
http://ord.aspensys.com/diseases.asp
.
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Aagenaes syndrome[?]
Aarskog Ose Pande syndrome[?]
Aarskog syndrome[?]
Aase Smith syndrome[?]
Aase syndrome[?]
ABCD syndrome[?]
Abdallat Davis Farrage syndrome[?]
Abdominal aortic aneurysm[?]
Abdominal cystic lymphangioma[?]
Abdominal defects[?]
Abdominal musculature absent microphthalmia joint laxity[?]
Abdominal neoplasms[?]
Aberrant subclavian artery[?]
Ablepharon macrostomia syndrome[?]
Ablutophobia
Abnormal systemic venous return[?]
Abruzzo Erickson syndrome[?]
Absence of Gluteal muscle[?]
Absence of tibia with polydactyly[?]
Absent corpus callosum cataract immunodeficiency[?]
Absent T lymphocytes[?]
Acalvaria[?]
Acanthocheilonemiasis[?]
Acanthocytosis chorea[?]
Acanthocytosis[?]
Acanthosis nigricans muscle cramps acral enlargement[?]
Acarophobia[?]
Acatalasemia[?]
Accessory deep peroneal nerve[?]
Accessory Navicular bone[?]
Accessory pancreas[?]
Achalasia alacrimia syndrome[?]
Achalasia microcephaly[?]
Achalasia, familial esophageal[?]
Achalasia
Achalasia-Addisonianism-Alacrimia syndrome[?]
Achard syndrome[?]
Achard-Thiers syndrome[?]
Acheiropodia
Achondrogenesis Kozlowski type[?]
Achondrogenesis type 1A[?]
Achondrogenesis type 1B[?]
Achondrogenesis[?]
Achondroplasia Swiss type agammaglobulinemia[?]
Achondroplasia
Achondroplastic dwarfism[?]
Achromatopsia incomplete, X-linked[?]
Achromatopsia
Acid maltase deficiency[?]
Acidemia, isovaleric[?]
Acidemia, propionic[?]
Acitretine antenatal infection[?]
Ackerman syndrome[?]
Acne rosacea[?]
Acoustic neuroma[?]
Acoustic schwannomas[?]
Acquired agranulocytosis[?]
Acquired hypoprothrombinemia[?]
Acquired ichthyosis[?]
Acquired prothrombin deficiency[?]
Acquired syphilis[?]
Acral dysostosis dyserythropoiesis[?]
Acral renal mandibular syndrome[?]
Acro coxo mesomelic dysplasia[?]
Acro fronto facio nasal dysostosis[?]
Acrocallosal syndrome, Schinzel type[?]
Acrocephalopolydactyly[?]
Acrocephalosyndactyly Jackson Weiss type[?]
Acrocephaly pulmonary stenosis mental retardation[?]
Acrodermatitis enteropathica[?]
Acrodermatitis[?]
Acrodysostosis[?]
Acrodysplasia scoliosis[?]
Acrofacial dysostosis ambiguous genitalia[?]
Acrofacial dysostosis atypical postaxial[?]
Acrofacial dysostosis Catania form[?]
Acrofacial dysostosis Preis type[?]
Acrofacial dysostosis Rodriguez type[?]
Acrofacial dysostosis Weyers type[?]
Acrofacial dysostosis, Nager type[?]
Acrofacial dysostosis, Palagonia type[?]
Acrokeratoelastoidosis of Costa[?]
Acromegaloid changes cutis verticis gyrata corneal[?]
Acromegaloid facial appearance syndrome[?]
Acromegaloid hypertrichosis syndrome[?]
Acromegaly
Acromesomelic dysplasia Brahimi Bacha type[?]
Acromesomelic dysplasia Campailla Martinelli type[?]
Acromesomelic dysplasia Hunter Thompson type[?]
Acromesomelic dysplasia, Maroteaux type[?]
Acromesomelic dysplasia[?]
Acromicric dysplasia[?]
Acroosteolysis dominant type[?]
Acroosteolysis neurogenic[?]
Acroosteolysis osteoporosis skull and mandible changes[?]
Acropectoral syndrome[?]
Acropectorenal field defect[?]
Acropectorovertebral dysplasia[?]
Acrophobia[?]
Acropigmentation of Dohi[?]
Acrorenal syndrome recessive[?]
Acrorenoocular syndrome[?]
Acrospiroma[?]
ACTH deficiency[?]
ACTH resistance[?]
Actinomycetales infection[?]
Activated protein C resistance[?]
Acutane embryopathy[?]
Acute articular rheumatism[?]
Acute erythroblastic leukemia[?]
Acute febrile neutrophilic dermatosis[?]
Acute idiopathic polyneuritis[?]
Acute intermittent porphyria[?]
Acute lymphoblastic leukemia congenital sporadic aniridia[?]
Acute lymphoblastic leukemia[?]
Acute lymphocytic leukemia[?]
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 myelogenous leukemia
Acute myeloid leukemia (generic term)[?]
Acute myeloid leukemia, secondary[?]
Acute myelomonocytic leukemia[?]
Acute necrotizing ulcerative gingivitis[?]
Acute non lymphoblastic leukemia (generic term)[?]
Acute posterior multifocal placoid pigment epitheliopathy[?]
Acute promyelocytic leukemia[?]
Acute renal failure[?]
Acyl-CoA dehydrogenase, medium chain, deficiency of[?]
Acyl-CoA dehydrogenase, short chain, deficiency of[?]
Acyl-CoA dehydrogenase, very long chain, deficiency of[?]
Acyl-CoA oxidase deficiency[?]
Adactylia unilateral dominant[?]
Adam complex familial[?]
Adams Nance syndrome[?]
Adams-Oliver syndrome[?]
Addison's disease[?]
Adducted thumb club foot syndrome[?]
Adducted thumb syndrome recessive form
Adducted thumbs Dundar type[?]
Adenine phosphoribosyltransferase deficiency[?]
Adenocarcinoid tumor[?]
Adenocarcinoma of lung[?]
Adenoid cystic carcinoma[?]
Adenoma of the adrenal gland[?]
Adenoma[?]
Adenomelablastoma[?]
Adenomyosis[?]
Adenosine deaminase deficiency[?]
Adenosine monophosphate deaminase deficiency
Adenosine triphosphatase deficiency, anemia due to[?]
Adenylosuccinate lyase deficiency[?]
Adie syndrome[?]
Adiposa dolorosa[?]
Adolescent benign focal crisis[?]
Adrenal adenoma, familial[?]
Adrenal cancer[?]
Adrenal disorder[?]
Adrenal gland hyperfunction[?]
Adrenal gland hypofunction[?]
Adrenal hyperplasia, congenital[?]
Adrenal hyperplasia[?]
Adrenal hypertension[?]
Adrenal hypoplasia congenital, X-linked[?]
Adrenal hypoplasia[?]
Adrenal incidentaloma[?]
Adrenal insufficiency[?]
Adrenal macropolyadenomatosis[?]
Adrenal medulla neoplasm[?]
Adrenocortical carcinoma[?]
Adrenogenital syndrome[?]
Adrenoleukodystrophy, autosomal, neonatal form[?]
Adrenoleukodystrophy, X-linked[?]
Adrenoleukodystrophy
Adrenomyodystrophy[?]
Adult onset Still's disease[?]
Adult spinal muscular atrophy[?]
Adult syndrome[?]
Aerophobia[?]
Afibrinogenemia[?]
Aganglionosis, total intestinal[?]
Aggressive fibromatosis[?]
Agnathia holoprosencephaly situs inversus[?]
Agnosia, primary visual[?]
Agoraphobia
Agrizoophobia[?]
Agyria pachygyria polymicrogyria[?]
Agyria-pachygyria type 1[?]
Agyrophobia[?]
Ahumada-Del Castillo syndrome[?]
Aicardi syndrome[?]
Aicardi-Goutieres syndrome[?]
Aichmophobia[?]
AIDS Dementia Complex[?]
AIDS dysmorphic syndrome[?]
Ainhumoid and mutilating keratodermia[?]
Akaba Hayasaka syndrome[?]
Akesson syndrome[?]
Aksu Stckhausen syndrome[?]
Al Awadi Teebi Farag syndrome[?]
Al Frayh Facharzt Haque syndrome[?]
Al Gazali Al Talabani syndrome[?]
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[?]
Alagille-Watson syndrome (AWS)[?]
Alar nasal cartilages coloboma of telecanthus[?]
Albers-Schonberg disease[?]
Albinism deafness syndrome[?]
Albinism immunodeficiency[?]
Albinism ocular late onset sensorineural deafness[?]
Albinism oculocutaneous, Hermansky-Pudlak type[?]
Albinism, minimal pigment type[?]
Albinism, ocular[?]
Albinism, yellow mutant type[?]
Albinism
Albinoidism[?]
Albrecht Schneider Belmont syndrome[?]
Albright like syndrome[?]
Albright Turner Morgani syndrome[?]
Albright's hereditary osteodystrophy[?]
Albright's syndrome[?]
Albuminurophobia[?]
Alcaptonuria
Alcohol antenatal infection[?]
Alcohol fetopathy[?]
Alcoholic hepatitis[?]
Alcoholic liver cirrhosis[?]
Aldolase A deficiency[?]
Aldred syndrome[?]
Alektorophobia[?]
Aleukemic leukemia cutis[?]
Alexander's disease[?]
Alkaptonuria
Allain Babin Demarquez syndrome[?]
Allan Herndon syndrome[?]
Allanson Pantzar McLeod syndrome[?]
Allergic angiitis[?]
Allergic autoimmune thyroiditis[?]
Allergic bronchopulmonary aspergillosis[?]
Allergic encephalomyelitis[?]
Alliumphobia[?]
Allodoxaphobia[?]
Aloi Tomasini Isaia syndrome[?]
Alopecia anosmia deafness hypogonadism syndrome[?]
Alopecia areata
Alopecia congenita keratosis palmoplantaris[?]
Alopecia contractures dwarfism mental retardation[?]
Alopecia epilepsy oligophrenia syndrome of Moynahan[?]
Alopecia hypogonadism extrapyramidal disorder[?]
Alopecia immunodeficiency[?]
Alopecia macular degeneration growth retardation[?]
Alopecia mental retardation hypogonadism[?]
Alopecia mental retardation syndrome[?]
Alopecia totalis[?]
Alopecia universalis onychodystrophy vitiligo[?]
Alopecia universalis[?]
Alopecia, epilepsy, pyorrhea, mental subnormality[?]
Alopecia
Alpers disease
Alpha 1-antitrypsin deficiency[?]
Alpha-2 deficient collagen disease[?]
Alpha-ketoglutarate dehydrogenase deficiency[?]
Alpha-L-iduronidase deficiency[?]
Alpha-mannosidosis[?]
Alpha-sarcoglycanopathy[?]
Alpha-thalassemia[?]
Alpha-thalassemia-abnormal morphogenesis[?]
Alport syndrome macrothrombocytopenia[?]
Alport syndrome, dominant type[?]
Alport syndrome, recessive type[?]
Alport syndrome[?]
Alstrom's syndrome[?]
Alternating hemiplegia of childhood[?]
Alternating hemiplegia
Aluminium lung[?]
Alveolar echinococcosis[?]
Alveolar soft part sarcoma[?]
Alveolitis, extrinsic allergic[?]
Alves Dos Santos Castello syndrome[?]
Alzheimer disease, familial[?]
Alzheimer's disease
Amathophobia[?]
Amaurosis congenita of Leber, type 1[?]
Amaurosis congenita of Leber, type 2[?]
Amaurosis congenita of Leber[?]
Amaurosis hypertrichosis[?]
Amaxophobia
Ambral syndrome[?]
Ambras syndrome[?]
Ambulophobia[?]
Amegakaryocytic thrombocytopenia[?]
Amelia cleft lip palate hydrocephalus iris coloboma[?]
Amelia facial dysmorphism[?]
Amelia X linked[?]
Amelogenesis Imperfecta hypomaturation type[?]
Amelogenesis imperfecta local hypoplastic form[?]
Amelogenesis imperfecta nephrocalcinosis[?]
Amelogenesis imperfecta[?]
Ameloonychohypohidrotic syndrome[?]
Amenorrhea, Primary[?]
American trypanosomiasis[?]
Aminoacidopathies[?]
Aminoaciduria[?]
Aminopterin antenatal infection[?]
Aminopterin like syndrome without aminopterin[?]
Amniotic bands[?]
Amoebiasis due to Entamoeba histolytica[?]
Amoebiasis due to free-living amoebae[?]
Ampola syndrome[?]
Amychophobia[?]
Amylo-1,6-glucosidase deficiency[?]
Amyloid angiopathy[?]
Amyloid Neuropathies, Familial[?]
Amyloid polyneuropathy, transthyretin related[?]
Amyloidosis of gingiva and conjunctiva mental retardation[?]
Amyloidosis, Familial[?]
Amyloidosis[?]
Amylopectinosis[?]
Amyoplasia mandibulofacial dysostosis[?]
Amyoplasia[?]
Amyotonia congenita[?]
Amyotrophic lateral sclerosis
Anablephobia[?]
Anaphylaxis
Anaplastic thyroid cancer[?]
Andersen's disease[?]
Andre syndrome[?]
Androgen insensitivity syndrome (AIS)
Anemia sideroblastic spinocerebellar ataxia[?]
Anemia, Diamond-Blackfan[?]
Anemia, Hypoplastic, Congenital[?]
Anemia, Pernicious[?]
Anemia, Sideroblastic[?]
Anemia
Anemophobia
Anencephaly spina bifida X linked[?]
Anencephaly
Aneurysm of sinus of Valsalva[?]
Aneurysm, intracranial berry[?]
Aneurysm[?]
Angel shaped phalangoepiphyseal dysplasia[?]
Angelman syndrome
Angiofollicular ganglionic hyperplasia[?]
Angiofollicular lymph hyperplasia[?]
Angioimmunoblastic with dysproteinemia lymphadenopathy[?]
Angiokeratoma mental retardation coarse face[?]
Angiolipoma[?]
Angioma hereditary neurocutaneous[?]
Angiomatosis encephalotrigeminal[?]
Angiomatosis leptomeningeal capillary - venous[?]
Angiomatosis systemic cystic Seip syndrome[?]
Angiomyomatous Hamartoma[?]
Angioneurotic edema hereditary due to C1 esterase deficiency[?]
Angiosarcoma of the liver[?]
Angiosarcoma of the scalp[?]
Angiostrongyliasis[?]
Angiotensin renin aldosterone hypertension[?]
Anguillulosis[?]
Aniridia absent patella[?]
Aniridia ataxia renal agenesis psychomotor retardation[?]
Aniridia cerebellar ataxia mental deficiency[?]
Aniridia mental retardation syndrome[?]
Aniridia ptosis mental retardation obesity familial[?]
Aniridia renal agenesis psychomotor retardation[?]
Aniridia type 2[?]
Aniridia, sporadic[?]
Aniridia[?]
Anisakiasis[?]
Ankle defects short stature[?]
Ankyloblepharon ectodermal defects cleft lip palate[?]
Ankyloblepharon filiforme adnatum cleft palate[?]
Ankyloblepharon filiforme imperforate anus[?]
Ankyloglossia heterochromia clasped thumbs[?]
Ankylosing spondylarthritis[?]
Ankylosing spondylitis[?]
Ankylosing vertebral hyperostosis with tylosis[?]
Ankylosis of teeth[?]
Ankylostomiasis[?]
Annular constricting bands[?]
Annular pancreas[?]
Annuloaortic ectasia[?]
Anodontia[?]
Anonychia ectrodactyly[?]
Anonychia microcephaly[?]
Anonychia onychodystrophy brachydactyly type B[?]
Anonychia onychodystrophy[?]
Anophthalia pulmonary hypoplasia[?]
Anophthalmia cleft lip palate hypothalamic disorder[?]
Anophthalmia cleft palate micrognathia[?]
Anophthalmia esophageal atresia cryptorchidism[?]
Anophthalmia megalocornea cardiopathy skeletal anomalies[?]
Anophthalmia microcephaly hypogonadism[?]
Anophthalmia plus syndrome[?]
Anophthalmia short stature obesity[?]
Anophthalmia Waardenburg syndrome[?]
Anophthalmos with limb anomalies[?]
Anophthalmos, clinical[?]
Anorchia[?]
Anorchidism[?]
Anorectal anomalies[?]
Ano-rectal atresia[?]
Anorexia nervosa
Anosmia
Anotia facial palsy cardiac defect[?]
Anotia
Ansell Bywaters Elderking syndrome[?]
Anterior horn disease[?]
Anterior pituitary insufficiency, familial[?]
Anthophobia[?]
Anthrax
Anti-factor VIII autoimmunization[?]
Antigen-peptide-transporter 2 deficiency[?]
Anti-HLA hyperimmunization[?]
Antihypertensive drugs antenatal infection[?]
Antinolo Nieto Borrego syndrome[?]
Antiphospholipid syndrome
Anti-plasmin deficiency, congenital[?]
Antisocial personality disorder
Antisynthetase syndrome[?]
Antithrombin deficiency, congenital[?]
Antley-Bixler syndrome[?]
Antlophobia[?]
Anton's syndrome[?]
Aorta-pulmonary artery fistula[?]
Aortic aneurysm[?]
Aortic arch anomaly peculiar facies 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[?]
Aortic window[?]
Apert like polydactyly syndrome[?]
Apert syndrome[?]
Aphalangia hemivertebrae[?]
Aphalangia syndactyly microcephaly[?]
Aphthous stomatitis[?]
Apiphobia[?]
Aplasia cutis autosomal recessive[?]
Aplasia cutis congenita dominant[?]
Aplasia cutis congenita epibulbar dermoids[?]
Aplasia cutis congenita intestinal lymphangiectasia[?]
Aplasia cutis congenita of limbs recessive[?]
Aplasia cutis congenita recessive[?]
Aplasia cutis congenita[?]
Aplasia cutis myopia[?]
Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails[?]
Aplastic anemia
Apo A-I deficiency[?]
Apolipoprotein C-II deficiency[?]
Apparent mineralocorticoid excess[?]
Apraxia manual[?]
Apraxia, Ideomotor[?]
Apraxia, ocular motor, Cogan type[?]
Apraxia
Apudoma[?]
Aqueductal stenosis, X linked[?]
Arachindonic acid, absence of[?]
Arachnodactyly ataxia cataract aminoaciduria mental retardation[?]
Arachnodactyly mental retardation dysmorphism[?]
Arachnoid cysts[?]
Arachnoiditis[?]
Arakawa'sa syndrome II[?]
Arbovirosis[?]
Arc syndrome[?]
Aredyld syndrome[?]
AREDYLD[?]
Arginase deficiency[?]
Arginemia[?]
Argininosuccinate synthetase deficiency[?]
Argininosuccinic aciduria[?]
Arhinia choanal atresia microphthalmia[?]
Arnold Stckler Bourne syndrome[?]
Arnold-Chiari malformation
Arnold-Chiari syndrome[?]
Aromatase deficiency[?]
Aromatic amino acid decarboxylase deficiency[?]
Arrhinia[?]
Arrhythmogenic right ventricular dysplasia[?]
Arroyo Garcia Cimadevilla syndrome[?]
Arrythmogenic right ventricular dysplasia, familial[?]
Arterial calcification of infancy[?]
Arterial dysplasia[?]
Arterial tortuosity[?]
Arteriovenous malformation
Arteritis[?]
Arthritis short stature deafness[?]
Arthritis, Juvenile[?]
Arthritis
Arthrogryposis due to muscular dystrophy[?]
Arthrogryposis ectodermal dysplasia other anomalies[?]
Arthrogryposis epileptic seizures migrational brain disorder[?]
Arthrogryposis IUGR thoracic dystrophy[?]
Arthrogryposis like disorder[?]
Arthrogryposis like hand anomaly sensorineural[?]
Arthrogryposis multiplex congenita CNS calcification[?]
Arthrogryposis multiplex congenita distal[?]
Arthrogryposis multiplex congenita neurogenic type[?]
Arthrogryposis multiplex congenita pulmonary hypoplasia[?]
Arthrogryposis multiplex congenita whistling face[?]
Arthrogryposis multiplex congenita, distal type 1[?]
Arthrogryposis multiplex congenita, distal type 2[?]
Arthrogryposis multiplex congenita, distal, x-linked[?]
Arthrogryposis multiplex congenita
Arthrogryposis ophthalmoplegia retinopathy[?]
Arthrogryposis renal dysfunction cholestasis syndrome[?]
Arthrogryposis spinal muscular atrophy[?]
Arthrogryposis[?]
Arylsulfatase A deficiency[?]
Asbestosis[?]
Ascher's Syndrome[?]
Asherman's syndrome[?]
Aspartylglycosaminuria[?]
Asperger syndrome
Aspergillosis[?]
Asphyxia neonatorum[?]
Asthenia[?]
Asthenophobia[?]
Asthma
Astrocytoma[?]
Asymmetric septal hypertrophy[?]
Ataxia telangiectasia variant V1[?]
Ataxia telangiectasia[?]
Ataxia, Marie's[?]
Ataxiophobia[?]
Ataxophobia[?]
Atelosteogenesis, type II[?]
Athabaskan brain stem dysgenesis[?]
Athetosis[?]
Atopic Dermatitis[?]
Atresia of small intestine[?]
Atrial myxoma, familial[?]
Atrial septal defects[?]
Atrioventricular septal defect[?]
Atrophoderma of Pierini and Pasini[?]
ATR-X[?]
Attention Deficit Disorder with Hyperactivity[?]
Attenuated FAP[?]
Atychiphobia[?]
Atypical lipodystrophy[?]
Auditory Perceptual Disorder[?]
Aughton syndrome[?]
Ausems Wittebol Post Hennekam syndrome[?]
Autism
Autoimmune hemolytic anemia[?]
Autoimmune hepatitis[?]
Autoimmune peripheral neuropathy[?]
Autoimmune polyendocrinopathy syndrome, type I[?]
Automysophobia[?]
Autonomic dysfunction[?]
Autonomic nervous system diseases[?]
Axial mesodermal dysplasia spectrum[?]
Axial osteomalacia[?]
Axial osteosclerosis[?]
Ayazi syndrome[?]
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