Rare Disease Library

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

OBSOLETE: Autosomal recessive childhood-onset cortical cataract

OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood

OBSOLETE: Histiocytosis X in childhood and adulthood · OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood

OBSOLETE: Langerhans cell histiocytosis specific to adulthood

OBSOLETE: Langerhans cell granulomatosis specific to adulthood · OBSOLETE: Histiocytosis X specific to adulthood

OBSOLETE: Langerhans cell histiocytosis specific to childhood

OBSOLETE: Langerhans cell granulomatosis specific to childhood · OBSOLETE: Histiocytosis X specific to childhood

Osgood-Schlatter disease

Aseptic necrosis of the tibial tubercle · Osteochondrosis of the tibial tubercle

Periodic fever syndrome of childhood

Primary interstitial lung disease in childhood and adulthood

Primary ILD in childhood and adulthood

Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder

Primary ILD in childhood and adulthood due to alveolar structure disorder

Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder

Primary ILD in childhood and adulthood due to alveolar vascular disorder

Primary interstitial lung disease specific to adulthood

Primary ILD specific to adulthood

Primary interstitial lung disease specific to childhood

Primary ILD specific to childhood

Primary interstitial lung disease specific to childhood due to alveolar structure disorder

Primary ILD specific to childhood due to alveolar structure disorder

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

Primary ILD specific to childhood due to alveolar vascular disorder

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

Progressive bulbar paralysis of childhood

Fazio-Londe disease · Progressive bulbar palsy of childhood

Pyogenic autoinflammatory syndrome of childhood

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

ROHHAD · ROHHADNET

Rare disorder due to unbalanced inter-twin blood transfusion

Rare systemic or rheumatological disease of childhood

Secondary interstitial lung disease in childhood and adulthood

Secondary ILD in childhood and adulthood

Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease

CTD-ILD · Secondary ILD in childhood and adulthood associated with a connective tissue disease

Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease

Secondary ILD in childhood and adulthood associated with a metabolic disease

Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease

Secondary ILD in childhood and adulthood associated with a systemic disease

Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis

Secondary ILD in childhood and adulthood associated with a systemic vasculitis

Secondary interstitial lung disease specific to adulthood associated with a systemic disease

Secondary ILD specific to adulthood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a connective tissue disease

Secondary ILD specific to childhood associated with a connective tissue disease

Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

Secondary ILD specific to childhood associated with a granulomatous disease

Secondary interstitial lung disease specific to childhood associated with a metabolic disease

Secondary ILD specific to childhood associated with a metabolic disease

Secondary interstitial lung disease specific to childhood associated with a systemic disease

Secondary ILD specific to childhood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

Secondary ILD specific to childhood associated with a systemic vasculitis

Self-limited childhood occipital epilepsy

Benign occipital epilepsy

Seromucinous cystadenoma of childhood

Seromucinous cystadenoma of ovary in childhood

Serous cystadenoma of childhood

Serous cystadenoma of ovary in childhood

Severe early-childhood-onset retinal dystrophy

EOSRD · Early-onset severe retinal dystrophy

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

Systemic EBV+ T-cell LPD of childhood · Systemic EBV-positive T-cell lymphoproliferative disease of childhood

Transient erythroblastopenia of childhood

Transient acquired pure red cell aplasia

Trichoodontoonychial dysplasia

Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region

Type 1 interferonopathy of childhood

Unclassified autoinflammatory syndrome of childhood

Unexplained periodic fever syndrome of childhood

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

WT limb-blood syndrome