Rare Disease Library

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Achalasia-alacrimia syndrome

Achalasia-microcephaly syndrome

Achondroplasia

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aplasia cutis-myopia syndrome

Gershoni-Baruch-Leibo syndrome

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FHONDA syndrome

Hypochondroplasia

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

Semicircular canal dehiscence syndrome

SCD syndrome

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome