Rare Disease Library

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Non-central nervous system-localized embryonal carcinoma

Non-CNS-localized embryonal carcinoma

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Congenital patella dislocation, bilateral

OBSOLETE: Congenital patella dislocation, unilateral

OBSOLETE: Coronary artery intramyocardial course

OBSOLETE: Familial articular chondrocalcinosis type 1

OBSOLETE: CCAL1

OBSOLETE: Familial articular chondrocalcinosis type 2

OBSOLETE: CCAL2

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

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

OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

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

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

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

OBSOLETE: Localized epiphyseal dysplasia

OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome

OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri

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

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

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Overgrowth syndrome with 2q37 translocation

Panniculitis-induced localized lipodystrophy

Paratesticular adenocarcinoma

Adenocarcinoma of the paratestis

Perihilar cholangiocarcinoma

Hilar cholangiocarcinoma · Klatskin tumor

Prader-Willi syndrome due to translocation

Pressure-induced localized lipoatrophy

Semicircular lipoatrophy · Lipoatrophia semicircularis

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

Primary localized amyloidosis

Localized AL amyloidosis

Primary non-gestational choriocarcinoma of ovary

NGCO · Primary non-gestational ovarian choriocarcinoma

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

Proximal myopathy with focal depletion of mitochondria

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Rare adenocarcinoma of the breast

Rare genetic parathyroid disease and phosphocalcic metabolism disorder

Rare parathyroid disease and phosphocalcic metabolism anomaly

Serous cystadenocarcinoma of pancreas

Pancreatic serous cystadenocarcinoma

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Single-system multifocal Langerhans cell histiocytosis

Single-system multifocal histiocytosis X · Single-system multifocal Langerhans cell granulomatosis

Spondylocamptodactyly syndrome

Spondylocarpotarsal synostosis

Synspondylism

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA

Toxocariasis