Rare Disease Library

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Albright hereditary osteodystrophy

Best vitelliform macular dystrophy

BMD · BVMD

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

Confetti-like macular atrophy

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary bullous dystrophy, macular type

Hereditary neutrophilia

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary vascular retinopathy

HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome

Norrie disease

Atrophia bulborum hereditaria · Episkopi blindness

Primary anetoderma

Primary macular atrophy

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome