Rare Disease Library

Isolated persistent urogenital sinus

Isolated PUGS

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 adrenal medullary hyperplasia

Isolated AMH

Isolated amyelia

Isolated aniridia

Isolated apodia

Isolated congenital absence of foot

Isolated arrhinia

Isolated nose agenesis

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated cleft lip

Isolated congenital anonychia

Isolated anonychia

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 focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated lower lip fistula

Isolated lower lip pits · Non-syndromic familial congenital lower lip pits

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

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

Levocardia

Isolated levocardia · Levocardia with situs inversus

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation