Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

ORPHA:329942

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

ORPHA:394529

Neonatal Marfan syndrome

Neonatal MFS

ORPHA:284979

OBSOLETE: Transient neonatal arthrogryposis

ORPHA:1153

Transient familial neonatal hyperbilirubinemia

Lucey-Driscoll syndrome

ORPHA:2312

Transient neonatal diabetes mellitus

TNDM

ORPHA:99886

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

ORPHA:391504

Transient tyrosinemia of the newborn

Transient tyrosinemia of the neonate

ORPHA:3402