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"

200 matching diseasesClear search ×

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

ORPHA:216796

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

ORPHA:216804

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

ORPHA:216812

Osteogenesis imperfecta type 4

OI type 4

ORPHA:216820

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

ORPHA:752

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

ORPHA:90786

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

ORPHA:90787

5-fluorouracil poisoning

5-fluorouracil intoxication

ORPHA:217064

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

ORPHA:85445

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

ORPHA:93560

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

ORPHA:238269

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

ORPHA:439232

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ORPHA:324723

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ORPHA:100006

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ORPHA:324708

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ORPHA:324713

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ORPHA:439246

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ORPHA:324718

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

ORPHA:324703

ABri amyloidosis

Familial dementia, British type

ORPHA:97345

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

ORPHA:3328

Acquired amyloid peripheral neuropathy

ORPHA:209013

Acquired aneurysmal subarachnoid hemorrhage

ORPHA:90065

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Acromegaloid facial appearance syndrome

ORPHA:965

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

ORPHA:363665

Acute erythroid leukemia

AML M6 · Acute myeloid leukemia M6

ORPHA:318

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 opioid intoxication

ORPHA:35889

Acute poisoning by drugs with membrane-stabilizing effect

ORPHA:43119