Rare Disease Library

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Acitretin/etretinate embryopathy

Fetal acitretin/etretinate syndrome · Retinoid embryopathy

Acquired methemoglobinemia

Drug-induced methemoglobinemia

Acquired skeletal muscle disease

Acute annular outer retinopathy

AAOR

Acute macular neuroretinopathy

AMNR

Acute myeloid leukemia with recurrent genetic anomaly

Acute myeloid leukemia · AML

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency

Acute zonal occult outer retinopathy

AZOOR

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Adolescent-onset epilepsy syndrome

Adrenocortical carcinoma with pure aldosterone hypersecretion

Pure APAC · Pure aldosterone-producing adrenocortical carcinoma

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency · Adult-onset CVID phenotype due to BAFF-receptor deficiency

Adult-onset distal myopathy due to VCP mutation

Adult-onset dystonia-parkinsonism

Dystonia-parkinsonism, Paisan-Ruiz type · PARK14

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Acquired adult-onset immunodeficiency · Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Adult-onset myasthenia gravis

Adult-onset acquired myasthenia · Adult-onset autoimmune myasthenia gravis

Adult-onset nemaline myopathy

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset hearing loss

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease