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Health
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Conditions_and_Diseases
: Genetic_Disorders
Aarskog Syndrome
(4)
Aase Syndrome
(3)
Ablepharon-Macrostomia Syndrome
(4)
Acoustic Neuroma
@
(15)
Adie Syndrome
@
(3)
Adrenal Hyperplasia
@
(6)
Adrenoleukodystrophy
@
(6)
Aicardi Syndrome
@
(7)
Alagille Syndrome
(8)
Albinism
@
(12)
Alfi's Syndrome
(2)
Alkaptonuria
(4)
Alopecia Areata
@
(15)
Alpha-1 Antitrypsin Deficiency
(11)
Alstrom Syndrome
@
(3)
Angelman Syndrome
@
(21)
Apert Syndrome
@
(10)
Arthrogryposis
@
(65)
Aspartylglucosaminuria
@
(3)
Ataxia
@
(8)
Autism
@
(543)
Bardet-Biedl Syndrome
@
(4)
Barth Syndrome
@
(3)
Batten Disease
(8)
Beckwith-Wiedemann Syndrome
(7)
Bloom Syndrome
(5)
Branchio-Oto-Renal Syndrome
(6)
Canavan
@
(4)
Celiac
@
(55)
Cerebrocostomandibular Syndrome
@
(2)
Charcot-Marie-Tooth Disease
@
(7)
Choroideremia
@
(4)
Cleidocranial Dysplasia
@
(3)
Cockayne Syndrome
@
(3)
Coffin Lowry Syndrome
(4)
Cohen Syndrome
(4)
Congenital Lactase Deficiency
@
(2)
Congenital Pain Insensitivity
@
(0)
Cornea Plana Congenita
@
(2)
Cornelia De Lange Syndrome
@
(4)
Costello Syndrome
(2)
Cowden Syndrome
(3)
Craniofrontonasal Dysplasia
(3)
Cri du Chat Syndrome
@
(4)
Crigler-Najjar Syndrome
(7)
Currarino Syndrome
(4)
Cystic Fibrosis
(129)
Cystinosis
@
(8)
DiGeorge Syndrome
(4)
Down Syndrome
(103)
Dubowitz Syndrome
(3)
Dwarfism
@
(29)
Ectodermal Dysplasia
(6)
Ehlers-Danlos Syndrome
@
(28)
Ellis-van Creveld Syndrome
@
(5)
Epidermolysis Bullosa
(17)
Factor V Leiden
@
(4)
Familial Dysautonomia
@
(8)
Familial Erythromelalgia
@
(3)
Familial Hypercholesterolemia
(1)
Familial Mediterranean Fever
@
(8)
Fanconi Anemia
@
(12)
Fatty Oxidation
(5)
Floating-Harbor Syndrome
(4)
Fragile X Syndrome
(12)
Freeman-Sheldon Syndrome
@
(5)
Friedreich Ataxia
@
(12)
Fuchs' Dystrophy
@
(4)
Galactosemia
@
(6)
Gaucher's
@
(13)
Gilbert's Syndrome
(10)
Glutaricaciduria
(3)
Glycogen Storage Disease Type II
@
(5)
GRACILE Syndrome
@
(3)
Hailey-Hailey Disease
(4)
Hallervorden-Spatz Syndrome
@
(3)
Hemihypertrophy
(3)
Hemochromatosis
(25)
Hemophilia
@
(27)
Hereditary Angioedema
(6)
Hereditary Spastic Paraplegia
(7)
Homocystinuria
@
(2)
Huntington's
@
(28)
Hydrocephalus
@
(42)
Hydrolethalus Syndrome
(4)
Imerslund-Grasbeck Syndrome
@
(2)
Incontinentia Pigmenti
(7)
Jacobsen Syndrome
@
(0)
Joubert Syndrome
(7)
Klinefelter Syndrome
(9)
Klippel-Feil Syndrome
@
(7)
Langer-Giedion Syndrome
@
(2)
Larsen Syndrome
@
(4)
Laurence-Moon Syndrome
(3)
Leber's Congenital Amaurosis
@
(10)
Leigh's
@
(4)
Lesch-Nyhan Syndrome
(1)
Leukodystrophy
@
(26)
Lissencephaly
@
(5)
Loeys-Dietz Syndrome
(5)
Lowe Syndrome
(2)
Lymphedema
@
(25)
Lysinuric Protein Intolerance
@
(5)
Machado-Joseph
(3)
Mannosidosis
(2)
Maple Syrup Urine Disease
@
(10)
Marfan Syndrome
@
(25)
McArdle's
(1)
MEB Disease
(3)
Meckel-Gruber Syndrome
(2)
Menkes' Syndrome
@
(6)
Mobius Syndrome
(5)
Mucolipidosis Type IV
@
(4)
Mulibrey Nanism
(2)
Multiple Hereditary Exostoses
@
(6)
Muscular Dystrophies
@
(65)
Myotonic Dystrophy
@
(4)
Nail Patella Syndrome
(5)
Narcolepsy
@
(20)
Nasu-Hakola Disease
(3)
Neurofibromatosis
@
(17)
Niemann-Pick
@
(4)
Noonan Syndrome
(8)
Opitz Syndrome
(5)
Osteogenesis Imperfecta
@
(14)
Pallister Killian Mosaic Syndrome
(9)
Pallister-Hall Syndrome
(3)
PEHO Syndrome
@
(5)
Phenylketonuria
@
(9)
Polycystic Kidney
@
(14)
Popliteal Pterygium Syndrome
(1)
Porphyrias
@
(14)
Prader-Willi Syndrome
(9)
Progeria
@
(10)
Propionic Acidemia
(5)
Proteus Syndrome
(5)
Prune Belly Syndrome
(2)
Pseudoxanthoma Elasticum
(5)
RAPADILINO Syndrome
(3)
Refsum's
@
(3)
Retinoblastoma
@
(27)
Retinoschisis
@
(7)
Rett's Syndrome
@
(19)
Robinow Syndrome
(4)
Rubinstein-Taybi Syndrome
@
(4)
Russell Silver Syndrome
(3)
Sanfilippo Syndrome
(7)
Schizencephaly
(1)
Shwachman Syndrome
(7)
Sickle Cell
@
(19)
Sirenomelia
(6)
Smith Lemli Opitz Syndrome
(3)
Smith-Magenis Syndrome
(3)
Soto's Syndrome
(5)
Spinal Muscular Atrophy
@
(16)
Stickler's Syndrome
@
(4)
Sturge-Weber Syndrome
(4)
Tay-Sachs
@
(4)
Thalassemia
@
(21)
Thrombocytopenia Absent Radius Syndrome
(3)
Tourette Syndrome
@
(57)
Treacher Collins Syndrome
@
(4)
Trichothiodystrophy
(10)
Tuberous Sclerosis
@
(12)
Turner Syndrome
(13)
Tyrosinemia
@
(2)
Unverricht-Lundborg Disease
@
(3)
Urea Cycle
(2)
Usher Syndrome
(2)
VATER Syndrome
@
(18)
Velo-Cardio-Facial Syndrome
(5)
Von Hippel-Lindau
(4)
Waardenburg Syndrome
(2)
WAGR Syndrome
@
(3)
Weaver Syndrome
(2)
Williams Syndrome
(17)
Wilson's Disease
@
(11)
Wolf-Hirschhorn Syndrome
(8)
Xeroderma Pigmentosum
(6)
Zellweger Syndrome
(7)
Cardiac
@
(50)
Cardiovascular
@
(5)
Metabolic
@
(378)
Musculoskeletal
@
(203)
Neurological
@
(109)
Urological
@
(25)
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