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[?]