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

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