Rare Disease Library

Cat-eye syndrome

CES

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

46,XX difference of sex development induced by androgens excess

46,XX DSD induced by androgens excess · 46,XX disorder of sex development induced by androgens excess

46,XX difference of sex development induced by fetal androgens excess

46,XX DSD induced by fetal androgens excess · 46,XX disorder of sex development induced by fetal androgens excess

46,XX difference of sex development induced by fetoplacental androgens excess

46,XX DSD induced by fetoplacental androgens excess · 46,XX disorder of sex development induced by fetoplacental androgens excess

Accessory mitral valve tissue

Accessory pancreas

Accessory tricuspid valve tissue

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Aseptic abscess syndrome

Aseptic abscesses syndrome · Aseptic systemic abscesses

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive Alport syndrome

Autosomal recessive amelia

Autosomal recessive anterior segment dysgenesis

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

Autosomal recessive axonal neuropathy with neuromyotonia

ARAN-NM · ARCMT2-NM

Autosomal recessive bestrophinopathy

Retinopathy, Burgess-Black type

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

Autosomal recessive carpotarsal osteolysis

Hereditary multicentric osteolysis

Autosomal recessive centronuclear myopathy

AR-CNM

Autosomal recessive cerebellar ataxia

ARCA

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Salih ataxia · Autosomal recessive spinocerebellar ataxia type 15

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

SCAR23 · Spinocerebellar ataxia autosomal recessive type 23

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive spinocerebellar ataxia type 2 · SCAR2

Autosomal recessive cerebral atrophy

Autosomal recessive Charcot-Marie-Tooth disease type 2X

CMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency