Rare Disease Library

Isolated adrenal medullary hyperplasia

Isolated AMH

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Familial supernumerary nipples

Isolated polythelia

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Isolated acheiria

Isolated congenital absence of hand

Isolated acheiropodia

Isolated acheiropody

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amyelia

Isolated anencephaly

Isolated anencephaly/exencephaly

Isolated angioid streaks

Isolated aniridia

Isolated apodia

Isolated congenital absence of foot

Isolated arhinencephaly

Isolated arrhinia

Isolated nose agenesis

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated cleft lip

Isolated congenital anonychia

Isolated anonychia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated delta-storage pool disease

Isolated delta-SPD · Isolated dense-SPD

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

Isolated dystonia

Pure dystonia

Isolated epispadias

Isolated exencephaly

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated iridoschisis

Isolated nail anomaly

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Isolated persistent urogenital sinus

Isolated PUGS

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Isolated tetra-amelia

Isolated total amelia

Levocardia

Isolated levocardia · Levocardia with situs inversus

Rare isolated myopia

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation