Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,912 rare diseases

Acute fatty liver of pregnancy

AFLP

ORPHA:243367

Acute flaccid myelitis

ORPHA:623801

Acute generalized exanthematous pustulosis

AGEP · Pustular drug eruption

ORPHA:293173

Acute graft versus host disease

ORPHA:99920

Acute hepatic porphyria

ORPHA:95157

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

ORPHA:217371

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

ORPHA:466794

Acute infantile liver failure-multisystemic involvement syndrome

ORPHA:370088

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

ORPHA:98916

Acute intermittent porphyria

ORPHA:79276

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

ORPHA:79126

Acute leukemia of ambiguous lineage

Acute leukemia of indeterminate lineage · Hybrid acute leukemia

ORPHA:86851

Acute liver failure

Acute hepatic failure · Fulminant hepatic failure

ORPHA:90062

Acute lung injury

ORPHA:178320

Acute lymphoblastic leukemia

ALL · Acute lymphoblastic leukemia/lymphoma

ORPHA:513

Acute macular neuroretinopathy

AMNR

ORPHA:488239

Acute mast cell leukemia

Acute MCL

ORPHA:566393

Acute megakaryoblastic leukemia

AMKL · AML M7

ORPHA:518

Acute megakaryoblastic leukemia in adult

AMKL in adult · AML M7 in adult

ORPHA:662934

Acute megakaryoblastic leukemia in children with Down syndrome

DS-AMKL in children with trisomy 21 · Acute megakaryoblastic leukemia in children with trisomy 21

ORPHA:99887

Acute megakaryoblastic leukemia in children without Down syndrome

Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL

ORPHA:329469

Acute monoblastic/monocytic leukemia

AML M5 · Acute monoblastic or monocytic leukemia

ORPHA:514

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Acute motor axonal neuropathy

AMAN · Acute pure motor GBS

ORPHA:98918

Acute myeloblastic leukemia with maturation

AML M2 · Acute myeloblastic leukemia M2

ORPHA:98834

Acute myeloblastic leukemia without maturation

AML M1 · Acute myeloblastic leukemia M1

ORPHA:98833

Acute myeloid leukaemia with myelodysplasia-related features

AML with multilineage dysplasia · Acute myeloid leukemia with multilineage dysplasia

ORPHA:86845

Acute myeloid leukemia

Acute myelogenous leukemia · Acute myeloid leukemia

ORPHA:519

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia · AML

ORPHA:102379

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia · AML

ORPHA:164726

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia · AML

ORPHA:102381

Acute myeloid leukemia with 11q23 abnormalities

Acute myeloid leukemia · AML

ORPHA:98831

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

Acute myeloid leukemia · AML

ORPHA:98829

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia · AML

ORPHA:319480

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

Acute myeloid leukemia · AML

ORPHA:402020

Acute myeloid leukemia with minimal differentiation

Acute myeloid leukemia · AML

ORPHA:98832

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia · AML

ORPHA:402026

Acute myeloid leukemia with recurrent genetic anomaly

Acute myeloid leukemia · AML

ORPHA:98277

Acute myeloid leukemia with t(6;9)(p23;q34)

Acute myeloid leukemia · AML

ORPHA:402014

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia · AML

ORPHA:370026

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia · AML

ORPHA:102724

Acute myeloid leukemia with t(9;11)(p22;q23)

Acute myeloid leukemia · AML

ORPHA:402017

Acute myeloid leukemia with t(9;22)(q34.1;q11.2)

Acute myeloid leukemia · AML

ORPHA:585867

Acute myelomonocytic leukemia

AMMoL · AML M4

ORPHA:517

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

ORPHA:263524

Acute neonatal citrullinemia type I

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

ORPHA:247546

Acute opioid intoxication

ORPHA:35889

Acute pandysautonomia

Acute panautonomic GBS · Acute panautonomic Guillain-Barré syndrome

ORPHA:231457