genetic_disorders.yml

#category, disorder, description

sample:
	disorder name:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: https://en.wikipedia.org/wiki/Mendelian_traits_in_humans

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autosomal dominant:
	Huntington disease:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null

	Marfan syndrome: 
		abbreviation: null
		short name: null
		symptoms: null
		cause: null

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autosomal recessive:	
	cystic fibrosis: 
		abbreviation: CF
		symptoms: null
		cause: null
		wikipedia url: 

	sickle cell disease:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	Setleis syndrome:
		abbreviation: null
		short name: null
		symptoms: facial skin abnormalities and double upper eyelashes and missing lower eyelashes.
		cause: TWIST2 gene mutations
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	Albinism:
		abbreviation: null
		short name: null
		symptoms: absence of pigment in the skin, hair and eyes.
		cause: mutations in the tyrosine 3-monooxygenase gene (tyrosinase), which synthesizes melanin from the amino acid tyrosine.
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: https://en.wikipedia.org/wiki/Albinism_in_humans
		
	Tay–Sachs disease:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

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X-linked dominant:
	fragile X syndrome:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 

	X-linked hypophosphatemia:
		abbreviation: XLH
		symptoms: form of rickets where vitamin D supplementation has no effect

	Rett syndrome:
		abbreviation: RTT
		symptoms: impairments in language and coordination and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size.
		cause: mutation in the MECP2 gene on the X chromosome
		
	Aicardi Syndrome:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	Incontinentia pigmenti:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	Focal dermal hypoplasia:
		abbreviation: null
		short name: null
		symptoms: yellow-pink bumps on the skin, pigmentation changes, shortness of stature, and some evidence suggests that it can cause epilepsy.
		cause: PORCN gene mutation
		mechanism: null
		frequency: null
		locus: X
		
	Alport syndrome:
		abbreviation: null
		short name: null
		symptoms: glomerulonephritis, end-stage kidney disease, and hearing loss.
		cause: inherited defect in type IV collagen COL4A5 gene
		mechanism: null
		frequency: 1 in 5,000-10,000
		locus: X
		wikipedia url: 
	

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X-linked recessive:
	Red-green color blindness
		short name: color blindness
		symptoms: a person cannot distinguish between shades of red and green

	hemophilia:
		abbreviation: null
		short name: null
		symptoms: blood cannot clot properly due to a deficiency of a clotting factor
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
	

	Fabry disease:
		abbreviation: null
		short name: null
		symptoms: null
		cause: lysosomal storage disease
		wikipedia url: 

	Duchenne muscular dystrophy:
		abbreviation: null
		short name: null
		symptoms: rapid progression of muscle degeneration, eventually leading to loss of skeletal muscle control, respiratory failure, and death.
		cause: mutations in the dystrophin gene
		mechanism: null
		wikipedia url: 

	X-linked agammaglobulinemia:
		abbreviation: XLA
		short name: null
		symptoms: patients prone to develop serious and even fatal infections.
		cause: null
		mechanism: patients do not generate mature B cells.
		wikipedia url: 

	X-linked ichthyosis:
		abbreviation: null
		short name: null
		symptoms: null
		cause: hereditary deficiency of the steroid sulfatase (STS) enzyme
		mechanism: null
		wikipedia url: 

	Glucose-6-phosphate dehydrogenase deficiency:
		abbreviation: null
		short name: null
		symptoms: nonimmune hemolytic anemia in response to certain medications, chemicals, or foods.
		cause: null
		mechanism: null
		wikipedia url: 

	Adrenoleukodystrophy
		abbreviation: null
		short name: null
		symptoms: leads to progressive brain damage, failure of the adrenal glands and eventually death.
		cause: null
		mechanism: null
		wikipedia url: 

	Androgen insensitivity syndrome:
		abbreviation: AIS
		short name: null
		symptoms: impairs the development of male genitals and male secondary sexual characteristics at puberty
		cause: mutation in the human androgen receptor (AR) gene
		mechanism: partial or complete inability of cells to respond to androgens.
		frequency: 1 in 20,000
		locus: Xq11-Xq12
		wikipedia url: 

	Hunter syndrome:
		abbreviation: null
		short name: null
		symptoms: hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen.
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	Nasodigitoacoustic syndrome:
		abbreviation: null
		short name: null
		symptoms: misshaped nose, brachydactyly of the distal phalanges, sensorineural deafness.
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 
		
	X-linked sideroblastic anemia:
		abbreviation: null
		short name: null
		symptoms: skin paleness, fatigue, dizziness and enlarged spleen and liver.
		cause: null
		mechanism: null
		frequency: null
		locus: null
		wikipedia url: 

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Y-linked:
	Y chromosome infertility: 
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		wikipedia url: 

	Swyer syndrome: some cases
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		wikipedia url: 

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Codominant:
	ABO blood groups:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		wikipedia url: 

	alpha-1 antitrypsin deficiency:
		abbreviation: null
		short name: null
		symptoms: null
		cause: null
		wikipedia url: 

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Mitochondrial:
	Leber hereditary optic neuropathy:
		abbreviation: LHON
		short name: optic neuropathy
		symptoms: null
		cause: null
		wikipedia url: