Diseases

Name Orphanumber Description XREF(s)
Acromicric dysplasia 969 A rare bone dysplasia characterized by… Orphanet, OMIM, ICD-10, MeSH
Acroosteolysis-keloid-like lesions-premature aging syndrome 363665 A rare, genetic, progeroid syndrome… Orphanet, ICD-10, OMIM
Acro-renal-ocular syndrome 959 A rare syndrome of multiple congenital… Orphanet, OMIM, ICD-10
Action myoclonus-renal failure syndrome 163696 A rare epilepsy syndrome characterized… Orphanet, ICD-10, OMIM
Activated PI3K-delta syndrome 397596 A rare, genetic, primary… Orphanet, OMIM, OMIM, ICD-10
Acute basophilic leukemia 86849 A rare acute myeloid leukemia… Orphanet, MeSH, ICD-10
Acute encephalopathy with biphasic seizures and late reduced diffusion 363549 A rare childhood-onset epilepsy… Orphanet
Acute fatty liver of pregnancy 243367 A rare, severe complication occurring… Orphanet, MedDRA, MeSH, ICD-10
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 217371 A rare mitochondrial respiratory chain… Orphanet, ICD-10, OMIM
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 466794 A rare autosomal recessive axonal… Orphanet, ICD-10, OMIM
Acute infantile liver failure-multisystemic involvement syndrome 370088 A rare, genetic, parenchymal hepatic… Orphanet, ICD-10, OMIM
Acute inflammatory demyelinating polyradiculoneuropathy 98916 A rare inflammatory neuropathy… Orphanet, ICD-10, OMIM
Acute intermittent porphyria 79276 A rare, severe form of the acute… Orphanet, MeSH, OMIM, ICD-10
Acute mast cell leukemia 566393 A rare systemic mastocytosis… Orphanet
Acute megakaryoblastic leukemia in Down syndrome 99887 Orphanet, ICD-10
Acute megakaryoblastic leukemia without Down syndrome 329469 Orphanet
Acute myeloblastic leukemia without maturation 98833 A rare, acute myeloid leukemia… Orphanet, ICD-10
Acute myeloblastic leukemia with maturation 98834 A rare, acute myeloid leukemia… Orphanet, ICD-10
Acute myeloid leukaemia with myelodysplasia-related features 86845 A rare acute myeloid leukemia (AML)… Orphanet, ICD-10, OMIM
Acute myeloid leukemia with 11q23 abnormalities 98831 A rare tumor arising from hematopoietic… Orphanet, ICD-10
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