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"

14 matching diseasesClear search ×

McDonough syndrome

ORPHA:2471

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Multiple carboxylase deficiency

MCD

ORPHA:148

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

ORPHA:1035

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

ORPHA:1557

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

ORPHA:36412

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

ORPHA:1851

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640

Hunter-Carpenter-McDonald syndrome

ORPHA:2174

Phelan-McDermid syndrome

ORPHA:48652

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

ORPHA:662169

Phelan-McDermid syndrome due to SHANK3 mutation

ORPHA:662172

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

ORPHA:6