Aa-Ab

• Aagenaes syndrome
• Aarskog Ose Pande syndrome
• Aarskog syndrome
• Aase Smith syndrome
• Aase syndrome
• ABCD syndrome
• Abasia
• Abdallat Davis Farrage syndrome
• Abdominal aortic aneurysm
• Abdominal cystic lymphangioma
• Abdominal defects
• Abdominal musculature absent microphthalmia joint laxity
• Abdominal neoplasm / Abdominal neoplasms
• Aberrant subclavian artery
• Ablepharon macrostomia syndrome
• Abnormal systemic venous return
• Abruzzo Erickson syndrome
• Absence of Gluteal muscle
• Absence of tibia with polydactyly
• Absent corpus callosum cataract immunodeficiency
• Absent T lymphocytes

Ac

Aca-Acc

• Acalvaria
• Acanthocheilonemiasis
• Acanthocytosis chorea
• Acanthocytosis
• Acanthosis nigricans
• Acatalasemia
• Accessory deep peroneal nerve
• Accessory Navicular bone
• Accessory pancreas

Ach-Ack

• 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 type 2
• 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

Acn-Acq

• Acne rosacea
• Acne
• Acoustic neuroma
• Acoustic schwannomas
• Acquired agranulocytosis
• Acquired hypoprothrombinemia
• Acquired Immune Deficiency Syndrome
• Acquired ichthyosis
• Acquired prothrombin deficiency
• Acquired syphilis
• anger irritation syndrome ais

Acr

Acra

• Acral dysostosis dyserythropoiesis
• Acral renal mandibular syndrome

Acro

• Acro coxo mesomelic dysplasia
• Acrofrontofacionasal dysostosis

Acroc-Acrok

• Acrocallosal syndrome, Schinzel type
• Acrocephalopolydactyly
• Acrocephalosyndactyly Jackson Weiss type
• Acrocephaly
• Acrocephaly pulmonary stenosis mental retardation
• Acrocyanosis
• Acrodermatitis enteropathica
• Acrodermatitis
• Acrodysostosis
• Acrodysplasia
• Acrodysplasia scoliosis
• Acrofacial dysostosis
• 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

Acrom-Acros

• 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

Act

• ACTH deficiency
• ACTH resistance
• Atelectasis
• Actinic keratosis
• Actinomycetales causes anal infection
• Actinomycosis
• Activated protein C resistance

Acu

Acut

Acuta

• Acutane embryopathy

Acute

Acute a-Acute l

• Acute anxiety
• Acute articular rheumatism
• Acute erythroblastic leukemia
• Acute febrile neutrophilic dermatosis
• Acute gouty arthritis
• Acute idiopathic polyneuritis
• Acute intermittent porphyria
• Acute lymphoblastic leukemia congenital sporadic aniridia
• Acute lymphoblastic leukemia
• Acute lymphocytic leukemia

Acute m-Acute p

• Acute megakaryoblastic leukemia
• Acute monoblastic leukemia
• Acute monocytic 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 pancreatitis
• Acute posterior multifocal placoid pigment epitheliopathy
• Acute promyelocytic leukemia

Acute r-Acute t

• Acute renal failure
• Acute respiratory distress syndrome
• Acute tubular necrosis

Acy

• 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

Ad

Ada-Adi

• 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
• Adenocarcinoma of Esophagus
• 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
• Adiposis dolorosa aka Dercum's disease

Ado-Adr

• 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

Adu

• Adult onset Still's disease
• Adult Spinal Muscular Atrophy
• Adult syndrome
• Advanced sleep phase syndrome

Ae-Ah

• Afibrinogenemia
• Agammaglobulinemia
• Aganglionosis
• Aganglionosis, total intestinal
• Aging
• Aggressive fibromatosis
• Agnathia
• Agnathia holoprosencephaly situs inversus
• Agnosia, primary visual
• Agoraphobia
• Agyria
• Agyria pachygyria polymicrogyria
• Agyria-pachygyria type 1
• Ahumada-Del Castillo syndrome

Ai-Ak

• Aicardi syndrome
• Aicardi-Goutières syndrome
• Aichmophobia
• AIDS
• AIDS Dementia Complex
• AIDS dysmorphic syndrome
• Ainhum
• Akaba Hayasaka syndrome
• Akesson syndrome
• Aksu Stckhausen syndrome

Al

• 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

Ala-Alc

• 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 Turner Morgani syndrome
• Albright's her ary osteodystrophy
• Albright's syndrome
• Alcaptonuria
• Alcohol antenatal infection
• Alcohol fetopathy
• Alcoholic hepatitis
• Alcoholic liver cirrhosis

Ald-All

• Aldolase A deficiency
• Aldred syndrome
• Aleukemic leukemia cutis
• Alexander disease
• Alien hand syndrome
• Alkaptonuria
• Allain Babin Demarquez syndrome
• Allan Herndon syndrome
• Allanson Pantzar McLeod syndrome
• Allergic angiitis
• Allergic autoimmune thyroiditis
• Allergic bronchopulmonary aspergillosis
• Allergic encephalomyelitis

Alo

• Aloi Tomasini Isaia syndrome
• Alopecia
• 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

Alp-Alz

• 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 Capillary Dysplasia
• Alveolar echinococcosis
• Alveolar soft part sarcoma
• Alveolitis, extrinsic allergic
• Alves Dos Santos Castello syndrome
• Alzheimer's disease
• Alzheimer disease, familial

Am

Ama-Amy

• Amaurosis
• Amaurosis congenita of Leber, type 1
• Amaurosis congenita of Leber, type 2
• Amaurosis congenita of Leber
• Amaurosis hypertrichosis
• Amblyopia
• Ambral syndrome
• Ambras syndrome
• Amegakaryocytic thrombocytopenia
• Amelia (birth defect)
• Amelia cleft lip palate hydrocephalus iris coloboma
• Amelia facial dysmorphism
• Amelia X linked
• Amelogenesis
• Amelogenesis Imperfecta hypomaturation type
• Amelogenesis imperfecta local hypoplastic form
• Amelogenesis imperfecta nephrocalcinosis
• Amelogenesis imperfecta
• Ameloonychohypohidrotic syndrome
• Amenorrhea
• American trypanosomiasis
• Amyotrophic lateral sclerosis

An

Ana-Ane

• 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
• Anencephaly spina bifida X linked
• Anencephaly
• Aneurysm of sinus of Valsalva
• Aneurysm, intracranial berry
• Aneurysm

Ang

• Angel shaped phalangoep
• Angiofollicular lymph hyperplasia
• Angioimmunoblastic lymphadenopathy with dysproteinemia
• Angiokeratoma mental retardation coarse face
• Angiolipoma
• Angioma
• Angioma her ary neurocutaneous
• Angiomatosis
• Angiomatosis encephalotrigeminal
• Angiomatosis leptomeningeal capillary - venous
• Angiomatosis systemic cystic seip syndrome
• Angiomyomatous hamartoma
• Angioneurotic edema her ary due to C1 esterase deficiency
• Angiosarcoma
• Angiosarcoma of the liver
• Angiosarcoma of the scalp
• Angiostrongyliasis
• Angiotensin renin aldosterone hypertension
• Anguillulosis

Ani-Ank

• 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
• Ankylosis of teeth
• Ankylostomiasis

Ann

• Annular constricting bands
• Annular pancreas
• Annuloaortic ectasia

Ano

• Anodontia
• Anonychia
• Anonychia ectrodactyly
• Anonychia microcephaly
• Anonychia onychodystrophy brachydactyly type B
• Anonychia onychodystrophy
• Anophthalia
• Anophthalia pulmonary hypoplasia
• Anophthalmia
• 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
• Anophthalmos with limb anomalies
• Anophthalmos, clinical
• Anorchia
• Anorchidism
• Anorectal anomalies
• Anorectal atresia / Ano-rectal atresia
• Anorexia nervosa
• Anosmia
• Anotia facial palsy cardiac defect
• Anotia

Ans-Ant

• Ansell Bywaters Elderking syndrome
• Anterior horn disease
• Anterior pituitary insufficiency, familial
• 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
• Anti-plasmin deficiency, congenital
• Antisocial personality disorder
• Antisynthetase syndrome
• Antithrombin deficiency, congenital
• Antley-Bixler syndrome
• Anton syndrome

Ao

• Aorta-pulmonary artery fistula
• Aortic aneurysm
• Aortic arch anomaly peculiar facies mental retardation
• Aortic arch interruption
• Aortic arches defect
• Aortic coarctation
• Aortic dissection
• Aortic dissection lentiginosis
• Aortic supravalvular stenosis
• Aortic valve stenosis
• Aortic valves stenosis of the child
• Aortic window

Ap

Ape-App

• Apert like polydactyly syndrome
• Apert syndrome
• Aphalangia
• Aphalangia hemivertebrae
• Aphalangia syndactyly microcephaly
• Aphthous stomatitis
• Apiphobia
• Aplasia
• 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
• Aplastic crisis
• Apo A-I deficiency
• Apolipoprotein C-II deficiency
• Apparent mineralocorticoid excess
• Appelt-Gerken-Lenz syndrome
• Appendicitis

Apr-Apu

• Apraxia manual
• Apraxia, Ideomotor
• Apraxia, ocular motor, Cogan type
• Apraxia
• Apudoma

Aq

• Aqueductal stenosis
• Aqueductal stenosis, X linked

Ar

Ara-Aro

• Arachindonic acid, absence of
• Arachnodactyly
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arachnodactyly mental retardation dysmorphism
• Arachnoid cysts
• Arachnoiditis
• Arakawa's syndrome II
• Arbovirosis
• Arc syndrome
• Aredyld syndrome
• AREDYLD
• Arginase deficiency
• Arginemia
• Argininosuccinate synthetase deficiency
• Argininosuccinic aciduria
• Argyria
• Arhinia
• Arhinia choanal atresia microphthalmia
• Arnold Stickler Bourne syndrome
• Arnold-Chiari malformation
• Aromatase deficiency
• Aromatic amino acid decarboxylase deficiency

Arr

• Arrhinia
• Arrhythmogenic right ventricular dysplasia
• Arroyo Garcia Cimadevilla syndrome
• Arrythmogenic right ventricular dysplasia, familial

Art

Arte

• Arterial calcification of infancy
• Arterial dysplasia
• Arterial tortuosity
• Arteriovenous malformation
• Arteritis

Arth

• 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

Ary

• Arylsulfatase A deficiency

As

• Asbestosis
• Ascariasis
• Ascher's syndrome
• Aseptic meningitis
• Asherman's syndrome
• Ashman phenomenon
• Aspartylglycosaminuria
• Aspergillosis
• Asperger syndrome
• Asphyxia neonatorum
• Aspiration pneumonia
• Asplenia
• Astasis
• Astasia-abasia
• Asthenia
• Asthma
• Astrocytoma
• Asymmetric septal hypertrophy

At

• Ataxia
• Ataxia telangiectasia variant V1
• Ataxia telangiectasia
• Ataxia, Marie's
• Atelectasis
• Atelosteogenesis, type II
• Athabaskan brain stem dysgenesis
• Atherosclerosis
• Athetosis
• Athlete's foot
• Atopic Dermatitis
• Atresia
• Atresia of small intestine
• Atrial myxoma
• Atrial septal defect
• Atrioventricular fistula
• Atrioventricular septal defect
• Atrophic vaginitis
• Atrophoderma
• Atrophoderma of Pierini and Pasini
• Atrophy
• ATR-X
• Attention Deficit Hyperactivity Disorder
• Attenuated FAP
• Atypical lipodystrophy

Au-Az

• Aughton syndrome
• Ausems Wittebol Post Hennekam syndrome
• Autism
• Autoimmune hemolytic anemia
• Autoimmune hepatitis
• Autoimmune peripheral neuropathy
• Autoimmune polyendocrinopathy syndrome, type I
• Autonomic dysfunction
• Autonomic nervous system diseases
• Axial mesodermal dysplasia
• Axial mesodermal dysplasia spectrum
• Axial osteomalacia
• Axial osteosclerosis
• Ayazi syndrome