Rare Disease Library

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

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 adrenal medullary hyperplasia

Isolated AMH

Isolated amyelia

Isolated anal canal duplication

ACD

Isolated anencephaly

Isolated aniridia

Isolated apodia

Isolated congenital absence of foot

Isolated arrhinia

Isolated nose agenesis

Isolated cleft lip

Isolated congenital anonychia

Isolated anonychia

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated cryptophthalmia

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

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 clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

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 ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Levocardia

Isolated levocardia · Levocardia with situs inversus

Rare isolated myopia

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation