Rare Disease Library

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Autosomal dominant osteopetrosis type 1

Autosomal recessive amelia

Autosomal recessive carpotarsal osteolysis

Hereditary multicentric osteolysis

Autosomal recessive congenital ichthyosis

ARCI

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive epidermolytic ichthyosis

AREI

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

Autosomal recessive intermediate Charcot-Marie-Tooth disease

RI-CMT

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

RI-CMT type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

RI-CMT type D

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive malignant osteopetrosis

Infantile malignant osteopetrosis

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Autosomal recessive optic atrophy

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7