Rare Disease Library

Split cord malformation type I

Diastematomyelia · SCM type I

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

Autoimmune hepatitis type 1

AIH type 1

Autoimmune pancreatitis type 1

AIP type 1 · IgG4-related pancreatitis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

FG syndrome type 1

Opitz-Kaveggia syndrome

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GSD type 15 · GSD type XV

Hyperlipoproteinemia type 1

HLP type 1

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Syndactyly type 1

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Timothy syndrome type 1

TS1 · LQT8 type 1