Rare Disease Library

Nemaline myopathy

NEM · NM

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Aceruloplasminemia

Hereditary ceruloplasmin deficiency

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

Acquired methemoglobinemia

Drug-induced methemoglobinemia

Acute neonatal citrullinemia type I

Early-onset citrullinemia type I · Acute neonatal citrullinemia type 1

Adult-onset autosomal recessive sideroblastic anemia

GLRX5-related sideroblastic anemia

Adult-onset nemaline myopathy

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

Amish nemaline myopathy

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Argininemia

Arginase 1 deficiency · Arginase deficiency

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autoimmune hemolytic anemia, cold type

Cold AIHA · cAHA

Autoimmune hemolytic anemia, warm type

Warm AIHA · wAHA

Autosomal non-syndromic agammaglobulinemia

Non-syndromic agammaglobulinemia, non-Bruton type · Non-syndromic hypogammaglobulinemia

Autosomal recessive methemoglobinemia

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

Bonnemann-Meinecke-Reich syndrome

Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Citrullinemia

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency · CID-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency

CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency

Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency

CIMAH · Methylenetetrahydrofolate dehydrogenase 1 deficiency

Congenital analbuminemia

Congenital atransferrinemia

Congenital hypotransferrinemia

Congenital dyserythropoietic anemia

CDA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital nemaline myopathy

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Constitutional deficiency anemia

Constitutional dyserythropoietic anemia

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Cryoglobulinemic vasculitis

Essential cryoglobulinemia · Essential mixed cryoglobulinemia

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome