Rare Disease Library

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

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

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

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

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

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

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

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

Hyperlipoproteinemia type 1

HLP type 1

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Osteogenesis imperfecta type 4

OI type 4

Osteogenesis imperfecta type 5

OI type 5

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Split cord malformation type I

Diastematomyelia · SCM type I

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Timothy syndrome type 1

TS1 · LQT8 type 1

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency