Rare Disease Library

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Necrotizing soft tissue infection

NSTI

Neonatal severe primary hyperparathyroidism

NSHPT

Nephrogenic syndrome of inappropriate antidiuresis

NSIAD

Non-specific interstitial pneumonia

NSIP · Non-specific idiopathic interstitial pneumonia

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

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

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Acinar cystic transformation of the pancreas

Pancreatic acinar cystic transformation · Acinar cell cystadnoma

Acquired chronic primary adrenal insufficiency

Acquired purpura fulminans

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia · AML

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia · AML

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia · AML

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia · AML

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

Acute transverse myelitis

Acute transverse myelitis with anti-MOG antibodies

Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adolescent-onset epilepsy syndrome

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