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Health Conditions and Diseases Genetic Disorders
251
Please see also specific disorder or condition in the alphabetical listings.
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Subcategories 204

Aarskog Syndrome
3
Aase Syndrome
3
Ablepharon-Macrostomi­a Syndrome
4
Acoustic Neuroma
8
Adie Syndrome
2
Adrenal Hyperplasia
2
Adrenoleukodystrophy
2
Aicardi Syndrome
5
Alagille Syndrome
4
Albinism
6
Alfi's Syndrome
2
Alkaptanuria
6
Alopecia Areata
5
Alpha-1 Antitrypsin Deficiency
4
Angelman Syndrome
9
Apert Syndrome
5
Arthrogryposis
10
Aspartylglucosaminuria
1
Ataxia
7
Autism
240
Bardet-Biedl Syndrome
3
Barth Syndrome
2
Batten Disease
4
Beckwith-Wiedemann Syndrome
1
Bloom Syndrome
3
Branchio-Oto-Renal Syndrome
4
Brugada Syndrome
1
Canavan
2
Celiac
17
Cerebrocostomandibular Syndrome
2
Charcot-Marie-Tooth Disease
5
Choroideremia
2
Cleidocranial Dysplasia
4
Cockayne Syndrome
1
Coffin Lowry Syndrome
3
Cohen Syndrome
2
Congenital Lactase Deficiency
1
Congenital Pain Insensitivity
1
Cornea Plana Congenita
1
Cornelia De Lange Syndrome
4
Costello Syndrome
3
Craniofrontonasal Dysplasia
3
Cri du Chat Syndrome
2
Crigler-Najjar Syndrome
5
Currarino Syndrome
2
Cystic Fibrosis
46
Cystinosis
5
DiGeorge Syndrome
1
Down Syndrome
61
Dubowitz Syndrome
1
Dwarfism
17
Ectodermal Dysplasia
5
Ehlers-Danlos Syndrome
9
Ellis-van Creveld Syndrome
1
Epidermolysis Bullosa
6
Factor V Leiden
0
Familial Adenomatous Polyposis
6
Familial Dysautonomia
2
Familial Erythromelalgia
2
Familial Hypercholesterolemia
1
Familial Mediterranean Fever
3
Fanconi Anemia
4
Fatty Oxidation
1
Floating-Harbor Syndrome
1
Fragile X Syndrome
6
Freeman-Sheldon Syndrome
2
Friedreich Ataxia
5
Fuchs' Dystrophy
1
Galactosemia
5
Gaucher's
2
Gilbert's Syndrome
5
Glutaricaciduria
2
Glycogen Storage Disease Type II
3
GRACILE Syndrome
2
Hailey-Hailey Disease
3
Hallervorden-Spatz Syndrome
1
Hemihypertrophy
1
Hemochromatosis
14
Hemophilia
15
Hereditary Angioedema
3
Hereditary Spastic Paraplegia
5
Homocystinuria
4
Huntington's
9
Hutchinson-Gilford Progeria Syndrome
3
Hydrocephalus
15
Hydroletha­lus Syndrome
1
Imerslund-Grasbeck Syndrome
2
Incontinentia Pigmenti
3
Jacobsen Syndrome
2
Joubert Syndrome
1
Klinefelter Syndrome
5
Klippel-Feil Syndrome
3
Langer-Giedion Syndrome
2
Larsen Syndrome
1
Laurence-Moon Syndrome
2
Leber's Congenital Amaurosis
2
Leigh's
2
Lesch-Nyhan Syndrome
1
Leukodystrophy
11
Lissencephaly
0
Loeys-Dietz Syndrome
6
Lowe Syndrome
3
Lymphedema
12
Lysinuric Protein Intolerance
4
Machado-Joseph
0
Mannosidosis
1
Maple Syrup Urine Disease
8
Marfan Syndrome
16
MCAD
5
McArdle's
1
MDP Syndrome
3
MEB Disease
3
Meckel-Gruber Syndrome
2
Menkes' Syndrome
3
Mobius Syndrome
1
Mucolipidosis
1
Mucolipidosis Type IV
3
Mulibrey Nanism
3
Multiple Hereditary Exostoses
2
Muscular Dystrophies
23
Myotonic Dystrophy
0
Nail Patella Syndrome
5
Narcolepsy
9
Nasu-Hakola Disease
2
Neurofibromatosis
13
Niemann-Pick
9
Noonan Syndrome
5
Opitz Syndrome
2
Oral-facial-digital Syndrome
1
Osteogenesis Imperfecta
9
Osteopetrosis
6
Pallister Killian Mosaic Syndrome
2
Pallister-Hall Syndrome
3
PEHO Syndrome
5
Phenylketonuria
4
Pitt-Hopkins
2
Polycystic Kidney
7
Popliteal Pterygium Syndrome
1
Porphyrias
6
Prader-Willi Syndrome
9
Progeria
5
Progeria
5
Propionic Acidemia
4
Proteus Syndrome
4
Prune Belly Syndrome
2
Pseudoxanthoma Elasticum
4
Raine Syndrome
3
RAPADILINO Syndrome
4
Refsum's
1
Retinoblastoma
13
Retinoschisis
5
Rett's Syndrome
5
Robinow Syndrome
2
Rubinstein-Taybi Syndrome
4
Russell Silver Syndrome
3
Sanfilippo Syndrome
4
Schizencephaly
2
Shwachman Syndrome
5
Sickle Cell
9
Smith Lemli Opitz Syndrome
4
Smith-Magenis Syndrome
4
Sotos Syndrome
3
Spinal Muscular Atrophy
7
Stickler's Syndrome
6
Sturge-Weber Syndrome
3
Sturge-Weber Syndrome
4
Tay-Sachs
3
Thalassemia
12
Thrombocytopenia Absent Radius Syndrome
2
Tourette Syndrome
26
Treacher Collins Syndrome
6
Trichothiodystrophy
1
Triploidy
1
Tuberous Sclerosis
7
Turner Syndrome
8
Tyrosinemia
2
Unverricht-Lundborg Disease
2
Urea Cycle Disorders
1
Usher Syndrome
5
VACTERL Associatio­n
6
VATER Syndrome
6
Velo-Cardio-Facial Syndrome
2
Von Hippel-Lindau
1
Waardenbur­g Syndrome
2
WAGR Syndrome
4
Weaver Syndrome
2
Williams Syndrome
8
Wilson's Disease
4
Wolf-Hirschhorn Syndrome
4
Xeroderma Pigmentosum
7
Zellweger Syndrome
3
Cardiac
12
Cardiovascular
4
Metabolic
291
Musculoskeletal
83
Neurological
38
Urological
6
Gene Therapy
15
Genetic Testing and Counseling
18
Genetics Education
9
Human Genetics
128
Organizati­ons
6
Personal Pages
4
Support Groups
7

Related categories 2

Information on Trisomy 13
Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
What Malformation Did El Greco Paint?
El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
New Scientist: Heroin Addiction Gene Identified and Blocked
Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. (May 31, 2005)
What Malformation Did El Greco Paint?
El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
Information on Trisomy 13
Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
New Scientist: Heroin Addiction Gene Identified and Blocked
Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. (May 31, 2005)

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July 15, 2023 at 18:25:35 UTC
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