Rare Disease Library

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

Isolated tibial hemimelia

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

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital patella dislocation, bilateral

OBSOLETE: Congenital patella dislocation, unilateral

PGM1-CDG

CDG syndrome type It · CDG-It

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

True congenital shoulder dislocation