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"

7 matching diseasesClear search ×

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

ORPHA:228308

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

ORPHA:156

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

ORPHA:228302

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

ORPHA:228305

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

ORPHA:157

Lipoyl transferase 2 deficiency

ORPHA:447795

Systemic primary carnitine deficiency

CDSP · CUD

ORPHA:158