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ACMG 100 Disorders

This class was created by Brainscape user Unknown Unknown. Visit their profile to learn more about the creator.

By: Unknown Unknown
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Decks in this class (18)

Cardiovascular System
Alagille syndrome,
Brugada syndrome,
Cardio facio cutaneous syndrome
9  cards
Chromosomal Disorders
22q112 deletion syndrome,
Angelman syndrome,
Beckwith wiedemann syndrome
14  cards
Chromosome Breakage Disorders
Ataxia telangiectasia,
Bloom syndrome,
Fanconi anemia
3  cards
Connective Tissue Disorders
Congential contractural arachnoda...,
Ehlers danlos syndrome,
Ehlers danlos syndrome
7  cards
Dermatological Disorders
Hidrotic ectodermal dysplasia 2,
Hypohydrotic ectodermal dysplasia,
Incontinetia pigmenti
4  cards
Disorders of Hearing and/or Vision
Blepharophimosis,
Gjb2 gjb6 hearing loss,
Hermansy pudlak syndrome
8  cards
Endocrine System Disorders
21 hydroxylase deficient cah,
Androgen insensitivity syndrome,
Kallman syndrome
6  cards
Hematologic Disorders
Acute intermittent porphyria,
Alpha thalassemia,
Beta thalassemia
7  cards
Hereditary Cancer Disorders
Brca1 brca2 hereditary breast ova...,
Familial adenomatous polyposis,
Hereditary nonpolyposis colon can...
11  cards
Immune System Disorders
Familial mediterranean fever,
X linked agammaglobulinemia
2  cards
Multiple Congenital Anomalies
Aarskog sydnrome,
Antley bixler syndrome,
Bardet biedl syndrome
14  cards
Neurological Disorders
Cadasil,
Canavan disease,
Early onset familial alzheimer di...
10  cards
Neuromuscular Disorders
Becker muscular dystrophy,
Charcot marie tooth,
Duchenne muscular dystrophy
9  cards
Premature Aging Syndromes
Ataxia with oculomotor apraxia,
Cockayne syndrome,
Hutchinson gilford progeria syndrome
3  cards
Pulmonary System Disorders
Alpha 1 antitrypsin deficiency,
Cystic fibrosis
4  cards
Renal Disorders
Alport syndrome and thin bm nephr...,
Polycystic kidney disease
2  cards
Repeat Expansion Disorders
Amyotrophic lacteral sclerosis,
Fragile x,
Friedrichs ataxia
6  cards
Skeletal Dysplasia
Achondroplasia,
Cleidocranial dysplasia,
Diastrophic dysplasia
8  cards

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ACMG 100 Disorders

  • Class purpose General learning

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