Rare Disease Library

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Mild hyperphenylalaninemia

Mild HPA · Non-PKU HPA

Mild phenylketonuria

Mild PKU · mPKU

Mild phosphoribosylpyrophosphate synthetase superactivity

Mild PRPP synthetase superactivity · Mild PRPS1 superactivity

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Mucinous cystadenoma of childhood

Mucinous cystadenoma of ovary in childhood

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Multisystem inflammatory syndrome in children and adults

MIS-C/A

OBSOLETE: Autosomal dominant childhood-onset cortical cataract

OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract

OBSOLETE: Autosomal recessive childhood-onset cortical cataract

OBSOLETE: Benign infantile seizures associated with mild gastroenteritis

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

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 childhood

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

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 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

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

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 related with pregnancy, childbirth and puerperium

Rare systemic or rheumatological disease of childhood

Schilder disease

Myelinoclastic diffuse sclerosis

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 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

Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

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

Type 1 interferonopathy of childhood