Rare Disease Library

Hypothyroidism due to TSH receptor mutations

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Invasive candidiasis

Systemic candidiasis · Disseminated candidiasis

Isolated aniridia

Isolated idiopathic anterior uveitis

Isolated IAU

Juberg-Marsidi syndrome

Juvenile idiopathic arthritis

Juvenile chronic arthritis · Juvenile rheumatoid arthritis

Juvenile idiopathic inflammatory myopathy

JIIM

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Late-onset idiopathic chronic pancreatitis

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

Microsporidiosis

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Necrobiosis lipoidica

Oppenheim-Urbach disease

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

Neonatal severe primary hyperparathyroidism

NSHPT

Nephrogenic syndrome of inappropriate antidiuresis

NSIAD

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

OBSOLETE: Aniridia

OBSOLETE: Cryptosporidiosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

OBSOLETE: Idiopathic hydrops fetalis

OBSOLETE: Idiopathic hypersomnia with long sleep time

OBSOLETE: Idiopathic hypersomnia without long sleep time

OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes

OBSOLETE: Idiopathic severe pneumococcemia

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis

OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change

OBSOLETE: Steroid-sensitive MCNS

OBSOLETE: Lethal idiopathic viral infection

OBSOLETE: Non-idiopathic juvenile arthritis

OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies

OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies · OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies

OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies

OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies · OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies

OBSOLETE: Peripheral hypothyroidism

OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies

OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies · OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies

OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies

OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies · OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes

Oligoarticular juvenile idiopathic arthritis

Pauciarticular chronic arthritis · Oligoarticular JIA

Paracoccidioidomycosis

Partial hydatidiform mole

Incomplete hydatidiform mole · Incomplete molar pregnancy