List of rare diseases starting with A

This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/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

Table of contents

1 Aa-Ad 2 Ae-Ah 3 Ai-Al 4 Am-Ap 5 Aq-At 6 At-Az

Aa-Ad

• 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

Ae-Ah

• 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

Ai-Al

• 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

Am-Ap

• 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

Aq-At

• 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

At-Az

• 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