Sample rows from Rare Diseases. Field types are labelled in each column heading.
#	TextID	TextDisease Name	TextCategory	TextPrevalence	TextInheritance Pattern	TextAffected Gene(s)	LocationChromosome Location	TextKey Symptoms	TextTypical Age of Onset	TextDiagnosis Methods	TextAvailable Treatments	TextOrphan Drug Designation	TextICD-10 Code	NumberOMIM Number	TextAffected System(s)	TextDisease Severity	TextLife Expectancy Impact
01	1	Gaucher Disease (Type 1)	Metabolic/Lysosomal Storage	1/40,000-1/60,000 (1/800 Ashkenazi Jews)	Autosomal Recessive	GBA1	1q22	Hepatosplenomegaly, anemia, thrombocytopenia, bone pain, fatigue	Childhood to adulthood	Beta-glucocerebrosidase enzyme assay, genetic testing, bone marrow biopsy	ERT (imiglucerase, velaglucerase alfa, taliglucerase alfa), SRT (eliglustat, miglustat)	Yes	E75.22	230800	Hematologic, Skeletal, Hepatic	Moderate	Near-normal with treatment
02	2	Fabry Disease	Metabolic/Lysosomal Storage	1/40,000-1/117,000	X-linked Recessive	GLA	Xq22.1	Acroparesthesias, angiokeratomas, corneal dystrophy, renal failure, cardiomyopathy, stroke	Childhood (males); later in females	Alpha-galactosidase A enzyme assay, genetic testing, kidney biopsy	ERT (agalsidase beta, agalsidase alfa), chaperone therapy (migalastat)	Yes	E75.21	301500	Renal, Cardiac, Neurological, Dermatologic	Moderate-Severe	Reduced without treatment
03	3	Pompe Disease	Metabolic/Lysosomal Storage	1/40,000 (combined forms)	Autosomal Recessive	GAA	17q25.3	Progressive muscle weakness, respiratory insufficiency, cardiomegaly (infantile), difficulty walking	Infantile to adult onset	Acid alpha-glucosidase enzyme assay, genetic testing, muscle biopsy, newborn screening	ERT (alglucosidase alfa, avalglucosidase alfa), respiratory support, physical therapy	Yes	E74.02	232300	Muscular, Respiratory, Cardiac	Severe (infantile); Moderate (late-onset)	Fatal in infancy without treatment; variable in late-onset
04	4	Niemann-Pick Disease (Type A)	Metabolic/Lysosomal Storage	1/250,000 (1/40,000 Ashkenazi Jews)	Autosomal Recessive	SMPD1	11p15.4	Hepatosplenomegaly, neurodegeneration, cherry-red spot, failure to thrive, lung disease	Infancy	Acid sphingomyelinase activity assay, genetic testing, bone marrow biopsy	Supportive/palliative care; no effective treatment for Type A; olipudase alfa for Type B	Yes	E75.240	257200	Neurological, Hepatic, Pulmonary	Severe	Fatal by age 3 (Type A)
05	5	Niemann-Pick Disease (Type C)	Metabolic/Lysosomal Storage	1/120,000-1/150,000	Autosomal Recessive	NPC1, NPC2	18q11.2, 14q24.3	Vertical supranuclear gaze palsy, ataxia, dystonia, dementia, hepatosplenomegaly, seizures	Variable (neonatal to adult)	Filipin staining, oxysterol levels, genetic testing	Miglustat (substrate reduction), supportive care, seizure management	Yes	E75.242	257220	Neurological, Hepatic	Severe	Significantly reduced

Rare Diseases

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