Rare Disease Library

Isolated tetra-amelia

Isolated total amelia

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Familial supernumerary nipples

Isolated polythelia

Isolated acheiria

Isolated congenital absence of hand

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated amyelia

Isolated aniridia

Isolated apodia

Isolated congenital absence of foot

Isolated arrhinia

Isolated nose agenesis

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia