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Diseases
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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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