Rare Disease Library

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Adrenal/paraganglial tumor

Adrenocortical carcinoma

ACC

Adrenocortical carcinoma with pure aldosterone hypersecretion

Pure APAC · Pure aldosterone-producing adrenocortical carcinoma

Adrenogenital syndrome

Adrenomyeloneuropathy

Adrenomyodystrophy

Adult acute respiratory distress syndrome

Adult ARDS

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

Adult familial nephronophthisis-spastic quadriparesia syndrome

Adult hepatocellular carcinoma

Adult HCC · HCC

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Adult idiopathic neutropenia

Adult chronic idiopathic neutropenia

Adult intestinal botulism

Adult intestinal colonization botulism · Adult intestinal toxemia botulism

Adult Krabbe disease

Adult polyglucosan body disease

APBD

Adult Refsum disease

Classic Refsum disease · HMSN 4

ADULT syndrome

Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome

Adult T-cell leukemia/lymphoma

ATLL

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

AFib amyloidosis

Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis

African tick typhus

African trypanosomiasis

Sleeping sickness

Agammaglobulinemia

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

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

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

Agenesis of the superior vena cava

Absence of the superior caval vein · Absence of the superior vena cava

Aggressive B-cell non-Hodgkin lymphoma

Aggressive B-cell NHL