Rare Disease Library

Multiple myeloma

Kahler disease · Medullary plasmacytoma

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Macrophagic myofasciitis

MMF

Madras motor neuron disease

MMND

Malignant mixed Müllerian tumor of the ovary

Ovarian malignant mixed Müllerian tumor · Ovarian carcinosarcoma

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Methimazole embryofetopathy

Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

Multifocal motor neuropathy

MMN · MMNCB

Multiminicore myopathy

MmD · Multiminicore disease

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 4

MMDS4

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Mycophenolate mofetil embryopathy

MMF embryopathy

Open spinal dysraphism with a myelomeningocele

Myelomeningocele · MMC

Absent thumb-short stature-immunodeficiency syndrome

Acquired immunodeficiency

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

Acute encephalopathy with inflammation-mediated status epilepticus

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

Adenovirus infection in immunocompromised patients

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 immunodeficiency with anti-interferon-gamma autoantibodies

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

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

ALPI-related inflammatory bowel disease

Angioimmunoblastic T-cell lymphoma

AILT · Immunoblastic lymphadenopathy

Autoimmune bullous skin disease

Autoimmune disease with skin involvement

Autoimmune encephalitis

AE · AIE

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

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

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

Autoimmune hepatitis

AIH

Autoimmune hepatitis type 1

AIH type 1