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 ×

B-lymphoblastic leukemia/lymphoma with hypodiploidy

Hypodiploid ALL

ORPHA:585942

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

ORPHA:585877

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)

B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1

ORPHA:585956

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 · B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

ORPHA:585929

B-lymphoblastic leukemia/lymphoma with t(17;19)

ORPHA:641375

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH

ORPHA:585948

B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)

ORPHA:641372

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

B-ALL with t(9;22)(q34.1;q11.2) · Philadelphia chromosome-like B-ALL

ORPHA:585909

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged · B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged

ORPHA:585918

Body integrity dysphoria

BID · BIID

ORPHA:623789

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

ORPHA:667662

Burkitt lymphoma

Small non-cleaved cell lymphoma

ORPHA:543

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

ORPHA:497623

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

ORPHA:147

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

ORPHA:464343

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

ORPHA:293955

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

ORPHA:247667

Chromophobe renal cell carcinoma

Chromophobe renal cell adenocarcinoma · Kidney cancer

ORPHA:319303

Chronic lymphoproliferative disorder of natural killer cells

Chronic NK-cell lymphocytosis · Chronic NK lymphocytosis

ORPHA:512017

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

ORPHA:466026

Classic Hodgkin lymphoma

Classic Hodgkin disease

ORPHA:391

Classic Hodgkin lymphoma, lymphocyte-depleted type

ORPHA:98846

Classic Hodgkin lymphoma, lymphocyte-rich type

ORPHA:98845

Classic Hodgkin lymphoma, mixed cellularity type

ORPHA:98844

Classic Hodgkin lymphoma, nodular sclerosis type

ORPHA:98843

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency · CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

ORPHA:699593

Combined oxidative phosphorylation defect type 11

COXPD11

ORPHA:324535

Combined oxidative phosphorylation defect type 13

COXPD13

ORPHA:319514

Combined oxidative phosphorylation defect type 14

COXPD14

ORPHA:319519

Combined oxidative phosphorylation defect type 15

COXPD15

ORPHA:319524

Combined oxidative phosphorylation defect type 17

COXPD17

ORPHA:369913

Combined oxidative phosphorylation defect type 2

COXPD2

ORPHA:254920

Combined oxidative phosphorylation defect type 20

COXPD20

ORPHA:420728

Combined oxidative phosphorylation defect type 21

COXPD21

ORPHA:420733

Combined oxidative phosphorylation defect type 23

COXPD23

ORPHA:444013

Combined oxidative phosphorylation defect type 24

COXPD24

ORPHA:444458

Combined oxidative phosphorylation defect type 25

COXPD25

ORPHA:447954

Combined oxidative phosphorylation defect type 26

COXPD26

ORPHA:477684

Combined oxidative phosphorylation defect type 27

COXPD27

ORPHA:477774

Combined oxidative phosphorylation defect type 29

COXPD29

ORPHA:478029

Combined oxidative phosphorylation defect type 30

COXPD30

ORPHA:478042

Combined oxidative phosphorylation defect type 39

GFM2-related combined oxidative phosphorylation defect · COXPD39

ORPHA:565624

Combined oxidative phosphorylation defect type 4

COXPD4

ORPHA:254925

Combined oxidative phosphorylation defect type 7

Severe C12ORF65-related combined oxidative phosphorylation defect · Severe C12ORF65-related COXPD

ORPHA:254930

Combined oxidative phosphorylation defect type 8

COXPD8

ORPHA:319504

Combined oxidative phosphorylation defect type 9

COXPD9

ORPHA:319509

Composite lymphoma

Composite Hodgkin and non-Hodgkin lymphoma

ORPHA:168966

Cutaneous photosensitivity-lethal colitis syndrome

ORPHA:2881