Disease Index
9,486 diseasesprimary autosomal recessive microcephaly
primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation
primary avascular necrosis
human disease
Primary Biliary Cholangitis
A chronic autoimmune liver disease characterized by progressive destruction of intrahepatic bile ducts leading to cholestasis and cirrhosis. Predominantly affects middle-aged women and has a prevalence of approximately 1 in 3,000-4,000 individuals.
ICD: DB95.0MeSH: D015209
primary bone dysplasia
human disease
primary bone dysplasia with decreased bone density
human disease
primary bone dysplasia with defective bone mineralization
human disease
primary bone dysplasia with disorganized development of skeletal components
human disease
primary bone dysplasia with increased bone density
human disease
primary bone dysplasia with micromelia
human disease
primary bone dysplasia with multiple joint dislocations
human disease
primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
human disease
primary CD59 deficiency
human disease
MeSH: C567355
primary central nervous system lymphoma
medical condition
primary ciliary dyskinesia
ciliopathy with impaired function of the cilia lining the respiratory tract and fallopian tube
ICD: Q89.3MeSH: D002925
primary ciliary dyskinesia 37
human disease
primary ciliary dyskinesia-retinitis pigmentosa syndrome
MeSH: C567595
primary coenzyme Q10 deficiency 2
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1
primary coenzyme Q10 deficiency 4
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13
primary coenzyme Q10 deficiency 5
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ9 on chromosome 16q21
primary coenzyme Q10 deficiency 6
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ6 on chromosome 14q24.3
primary coenzyme Q10 deficiency 7
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ4 on chromosome 9q34.11
primary condylar hyperplasia
human disease
primary congenital glaucoma
Human disease
ICD: Q15.0
primary congenital glaucoma type 3B
human disease
MeSH: C536824
primary congenital hypothyroidism
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth
primary congenital hypothyroidism without thyroid developmental anomaly
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal
primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
primary cutaneous amyloidosis
amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis
MeSH: C562643
primary cutaneous diffuse large B-cell lymphoma, leg type
medical condition
primary cutaneous follicular lymphoma
medical condition
ICD: C82.6