Category:Genetic disorders
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Pages in category "Genetic disorders"
The following 200 pages are in this category, out of 2,548 total.
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A
- Aarskog–Scott syndrome
- Aase syndrome
- ABCA12
- ABCD syndrome
- ABCD3
- Abdallat–Davis–Farrage syndrome
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Absence deformity of leg-cataract syndrome
- Absence of fingerprints-congenital milia syndrome
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Acantholysis
- Acanthosis nigricans-muscle cramps-acral enlargement syndrome
- Acatalasia
- ACDC (medicine)
- Aceruloplasminemia
- Achalasia microcephaly
- Achard syndrome
- Acheiria
- Achondrogenesis type 1B
- Achondrogenesis type 2
- Achondroplasia in children
- Acid alpha-glucosidase
- Acid sphingomyelinase
- Ackerman syndrome
- Acorea, microphthalmia and cataract syndrome
- ACP2
- Acro-oto-radial syndrome
- Acrocallosal syndrome
- Acrocephalosyndactyly
- Acrocraniofacial dysostosis
- Acrodysostosis
- Acrofrontofacionasal dysostosis
- Acrogeria
- Acrokeratoelastoidosis
- Acropectoral syndrome
- Acropectorovertebral dysplasia
- Acro–dermato–ungual–lacrimal–tooth syndrome
- Actinic Prurigo
- Activated PI3K delta syndrome
- Activated protein C resistance
- Acytosiosis
- Adams–Nance syndrome
- Adducted thumb syndrome
- Adenine phosphoribosyltransferase
- Adenine phosphoribosyltransferase deficiency
- Adenoma sebaceum
- Adenosine deaminase
- Adenosine deaminase 2 deficiency
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency type 1
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- ADNP syndrome
- Adrenoleukodystrophy
- Adult polyglucosan body disease
- AFF2
- African iron overload
- Afu
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- AGS
- AHDC1
- Aicardi
- Aicardi–Goutières syndrome
- AIS
- AKU
- Al Gazali Sabrinathan Nair syndrome
- Al-Raqad syndrome
- Alacrima
- ALAS2
- Alb
- Albinism in humans
- Albinism–deafness syndrome
- Alcohol flush reaction
- Alcohol intolerance
- ALD
- Aldolase B
- Aldrich syndrome
- ALG1-CDG
- Alkaptonuria
- Allan Herndon Dudley syndrome
- Alopecia contractures dwarfism intellectual disability syndrome
- Alpha-1
- Alpha-1 antitrypsin
- Alpha-aminoadipic and alpha-ketoadipic aciduria
- Alpha-mannosidosis
- Alpha-thalassemia
- Alport
- Alström
- Alternating hemiplegia of childhood
- Alveolar capillary dysplasia
- Alwadei syndrome
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- Amc
- Amelanism
- Amelogenesis imperfecta
- Amelogenin
- Amino acid transport disorder
- Aminoaciduria
- Aminoacylase 1 deficiency
- Analbuminaemia
- Andermann syndrome
- Andersen Tawil syndrome
- Angel-shaped phalango-epiphyseal dysplasia
- Angioedema
- Aniridia
- Ankyrin
- Anonychia
- Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
- Anosmin-1
- Anterior segment mesenchymal dysgenesis
- Anticipation
- Anticipation (genetics)
- Antithrombin III deficiency
- Antley–Bixler syndrome
- Apadamtase alfa
- Apert syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ApoA-I Milano
- Apolipoprotein B deficiency
- Apolipoprotein L1
- Aposthia
- Araf
- Arakawa's syndrome II
- Archaeological excavation
- Arcyon
- Ardalan–Shoja–Kiuru syndrome
- AREDYLD syndrome
- Argininemia
- Argininosuccinic aciduria
- ARID1B
- Aristaless related homeobox
- ARL13B
- Armenia
- Aromatase deficiency
- Aromatase excess syndrome
- Arterial calcification due to CD73 deficiency
- Arterial tortuosity syndrome
- Arthrogryposis–renal dysfunction–cholestasis syndrome
- Arts syndrome
- Arylsulfatase A
- ASAH1
- Ascher's syndrome
- Aspartoacylase
- Aspartylglucosaminidase
- Aspartylglucosaminuria
- Ataluren
- Ataxia
- Ataxia-pancytopenia syndrome
- Ataxia–telangiectasia
- Atelosteogenesis type I
- Atelosteogenesis, type II
- Atlastin
- ATP1A3
- ATP7A
- ATR-16 syndrome
- ATR-X syndrome
- Atrichia with papular lesions
- Auh
- Auricular hypertrichosis
- Autoimmune lymphoproliferative syndrome
- Autophagic vacuolar myopathy
- Autosomal dominant GTP cyclohydrolase I deficiency
- Autosomal dominant hypophosphatemic rickets