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Fragile X syndrome
?
TBD
X-linked dominant genetic disorder
Takayasu's arteritis
?
TBD
Medical condition
Miller–Dieker syndrome
?
TBD
Genetic disorder
Stevens–Johnson syndrome
?
TBD
Skin disease
psychopathological syndrome
?
TBD
constellation of signs and symptoms that together make up a recognisable mental disorder
Multicentric reticulohistiocytosis
?
TBD
Medical condition
Cystic fibrosis
?
TBD
Genetic disorder inhibiting clearance of mucus from the lungs
designated intractable/rare disease
?
TBD
disease/syndrome specified according to Japanese law
Cornelia de Lange syndrome
?
TBD
Medical condition
Usher syndrome
?
TBD
Recessive genetic disorder causing deafblindness
Alström syndrome
?
TBD
Rare genetic disorder involving childhood obesity and multiple organ dysfunction
Wolfram syndrome
?
TBD
Human disease
Tuberous sclerosis
?
TBD
Genetic condition causing non-cancerous tumours