Genetic disease
health problem caused by one or more abnormalities in the genome
hemochromatosis type 3
neurodegeneration with brain iron accumulation 4
hemochromatosis type 5
complex disease
methionine malabsorption syndrome
polygenic disease
tibial muscular dystrophy
adult-onset basal ganglia disease
hereditary pancreatitis
deafness dystonia syndrome
Troyer syndrome
familial temporal lobe epilepsy 7
Ullrich congenital muscular dystrophy
epidermoid cyst
Tooth fusion
Meckel's diverticulum
congenital torticollis
congenital hereditary endothelial dystrophy of cornea
speech sound disorder
bladder diverticulum
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 3
microvillus inclusion disease
slipped capital femoral epiphysis
chromosomal disease
Meniere's disease
hereditary spastic paraplegia 23
Absence of gluteal muscle
accessory nail of the fifth toe
Aneurysmal bone cyst
axial osteomalacia
Bart syndrome
Premature greying of hair
bile acid malabsorption
polycystic ovary syndrome
ADan amyloidosis
clubbed thumb
combined immunodeficiency
congenital secretory chloride diarrhea 1
congenital diarrhea 5 with tufting enteropathy
cutaneous T cell lymphoma
D-bifunctional protein deficiency
EAST syndrome
Epstein–Barr virus infection
glycerol kinase deficiency
conductive deafness-malformed external ear syndrome
deafness-vitiligo-achalasia syndrome
hypoglycemia, leucine-induced
pyloric atresia
spastic paraparesis-deafness syndrome