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CC-BY-4.0
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162949
Orphanet classification of rare hematological diseases
97992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97992
Rare hematologic disease
Category
68347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68347
Tumor of hematopoietic and lymphoid tissues
Category
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
98292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292
Mastocytosis
Category
2467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467
Systemic mastocytosis
Clinical group
98848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848
Indolent systemic mastocytosis
Disease
98849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849
Systemic mastocytosis with associated hematologic neoplasm
Disease
98850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850
Aggressive systemic mastocytosis
Disease
98851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851
Mast cell leukemia
Disease
566393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393
Acute mast cell leukemia
Clinical subtype
566396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396
Chronic mast cell leukemia
Clinical subtype
158775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775
Smoldering systemic mastocytosis
Disease
158778
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778
Isolated bone marrow mastocytosis
Disease
66646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646
Cutaneous mastocytosis
Clinical group
79455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455
Cutaneous mastocytoma
Disease
79456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456
Diffuse cutaneous mastocytosis
Disease
280785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785
Bullous diffuse cutaneous mastocytosis
Clinical subtype
280794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794
Pseudoxanthomatous diffuse cutaneous mastocytosis
Clinical subtype
79457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457
Maculopapular cutaneous mastocytosis
Disease
90389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389
Telangiectasia macularis eruptiva perstans
Clinical subtype
158766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766
Typical urticaria pigmentosa
Clinical subtype
158769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769
Plaque-form urticaria pigmentosa
Clinical subtype
158772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772
Nodular urticaria pigmentosa
Clinical subtype
66661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661
Mast cell sarcoma
Disease
66662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662
Extracutaneous mastocytoma
Disease
171895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895
Myeloid hemopathy
Category
519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519
Acute myeloid leukemia
Clinical group
86845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845
Acute myeloid leukaemia with myelodysplasia-related features
Disease
86846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Category
102379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Disease
102381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Disease
164726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Disease
86851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851
Acute leukemia of ambiguous lineage
Category
530995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995
Mixed phenotype acute leukemia
Disease
589534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Etiological subtype
589595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595
Mixed phenotype acute leukemia with t(v;11q23.3)
Etiological subtype
98835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835
Acute undifferentiated leukemia
Disease
98277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277
Acute myeloid leukemia with recurrent genetic anomaly
Category
520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520
Acute promyelocytic leukemia
Disease
98829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Disease
98831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831
Acute myeloid leukemia with 11q23 abnormalities
Disease
102724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Disease
319480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480
Acute myeloid leukemia with CEBPA somatic mutations
Disease
370026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Disease
402014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014
Acute myeloid leukemia with t(6;9)(p23;q34)
Disease
402017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017
Acute myeloid leukemia with t(9;11)(p22;q23)
Disease
402020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Disease
402023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Disease
402026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026
Acute myeloid leukemia with NPM1 somatic mutations
Disease
585867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Disease
167714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714
Unclassified acute myeloid leukemia
Category
318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318
Acute erythroid leukemia
Disease
518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518
Acute megakaryoblastic leukemia
Disease
99887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887
Acute megakaryoblastic leukemia in Down syndrome
Clinical subtype
329469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469
Acute megakaryoblastic leukemia without Down syndrome
Clinical subtype
86843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843
Acute panmyelosis with myelofibrosis
Disease
86849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849
Acute basophilic leukemia
Disease
86850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850
Myeloid sarcoma
Disease
98832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832
Acute myeloid leukemia with minimal differentiation
Disease
98833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833
Acute myeloblastic leukemia without maturation
Disease
98834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834
Acute myeloblastic leukemia with maturation
Disease
517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517
Acute myelomonocytic leukemia
Disease
514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514
Acute monoblastic/monocytic leukemia
Disease
319465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465
Inherited acute myeloid leukemia
Disease
52688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688
Myelodysplastic syndrome
Clinical group
75564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564
Acquired idiopathic sideroblastic anemia
Disease
86836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836
Refractory cytopenia with multilineage dysplasia
Clinical group
98826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826
Refractory anemia
Disease
98827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827
Unclassified myelodysplastic syndrome
Disease
101096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101096
Aregenerative anemia
Disease
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
86839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839
Refractory anemia with excess blasts
Disease
100019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019
Refractory anemia with excess blasts type 1
Clinical subtype
100020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020
Refractory anemia with excess blasts type 2
Clinical subtype
86841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Disease
168960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960
Refractory anemia with excess blasts in transformation
Disease
495930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930
Familial monosomy 7 syndrome
Disease
98274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274
Myeloproliferative neoplasm
Clinical group
488280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280
14q32 duplication syndrome
Disease
3318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318
Essential thrombocythemia
Disease
521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521
Chronic myeloid leukemia
Disease
824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Primary myelofibrosis
Disease
729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729
Polycythemia vera
Disease
86829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829
Chronic neutrophilic leukemia
Disease
86830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830
Chronic myeloproliferative disease, unclassifiable
Disease
168940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940
Chronic eosinophilic leukemia
Disease
168956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956
Hypereosinophilic syndrome
Clinical group
3260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260
Idiopathic hypereosinophilic syndrome
Disease
314950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950
Primary hypereosinophilic syndrome
Disease
314962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962
Secondary hypereosinophilic syndrome
Disease
314970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970
Lymphocytic hypereosinophilic syndrome
Clinical subtype
420611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611
Transient myeloproliferative syndrome
Disease
480851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851
Hereditary thrombocytopenia with early-onset myelofibrosis
Disease
98275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275
Myelodysplastic/myeloproliferative disease
Clinical group
86834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834
Juvenile myelomonocytic leukemia
Disease
98823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823
Chronic myelomonocytic leukemia
Disease
98824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824
Atypical chronic myeloid leukemia
Disease
98825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825
Unclassified myelodysplastic/myeloproliferative disease
Disease
168943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
Category
168947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Disease
168950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Disease
168953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Disease
589542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Disease
171898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898
Lymphoid hemopathy
Category
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
98282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282
Plasma cell tumor
Category
2905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905
POEMS syndrome
Disease
29073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073
Multiple myeloma
Disease
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
86855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855
Plasmacytoma
Disease
100021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021
Primary plasmacytoma of the bone
Clinical subtype
100022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022
Extramedullary soft tissue plasmacytoma
Clinical subtype
86861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861
Non-amyloid monoclonal immunoglobulin deposition disease
Disease
93556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556
Heavy chain deposition disease
Clinical subtype
93557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557
Light and heavy chain deposition disease
Clinical subtype
93558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558
Light chain deposition disease
Clinical subtype
86864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864
Heavy chain disease
Disease
100024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024
Mu-heavy chain disease
Clinical subtype
100025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025
Alpha-heavy chain disease
Clinical subtype
100026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026
Gamma-heavy chain disease
Clinical subtype
454714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714
Plasma cell leukemia
Disease
98287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287
Histiocytic and dendritic cell tumor
Category
98288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288
Macrophage or histiocytic tumor
Category
86896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896
Histiocytic sarcoma
Disease
98289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289
Dendritic cell tumor
Category
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
86897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897
Langerhans cell sarcoma
Disease
86900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900
Interdigitating dendritic cell sarcoma
Disease
86903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903
Dendritic cell sarcoma not otherwise specified
Disease
158019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019
Indeterminate cell histiocytosis
Disease
98290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290
Immunodeficiency-associated lymphoproliferative disease
Category
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
86904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904
Methotrexate-associated lymphoproliferative disorders
Disease
98291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291
Lymphoproliferative disease associated with primary immune disease
Category
223735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735
Lymphoma
Category
547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547
Non-Hodgkin lymphoma
Category
513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513
Acute lymphoblastic leukemia
Clinical group
99860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860
Precursor B-cell acute lymphoblastic leukemia
Disease
585877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Etiological subtype
641375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375
B-lymphoblastic leukemia/lymphoma with t(17;19)
Etiological subtype
585909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Etiological subtype
585918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Etiological subtype
585929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Etiological subtype
585936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Etiological subtype
585942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Etiological subtype
585948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Etiological subtype
585956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Etiological subtype
641372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
Etiological subtype
99861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861
Precursor T-cell acute lymphoblastic leukemia
Disease
171915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915
B-cell non-Hodgkin lymphoma
Category
300842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842
Indolent B-cell non-Hodgkin lymphoma
Category
545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545
Follicular lymphoma
Disease
33226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226
Waldenström macroglobulinemia
Disease
58017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017
Classic hairy cell leukemia
Disease
67038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038
B-cell chronic lymphocytic leukemia
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
300878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878
Hairy cell leukemia variant
Disease
300912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912
Marginal zone lymphoma
Clinical group
52417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417
MALT lymphoma
Disease
86854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854
Splenic marginal zone lymphoma
Disease
86867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867
Nodal marginal zone B-cell lymphoma
Disease
300869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869
Splenic diffuse red pulp small B-cell lymphoma
Disease
443159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159
Lymphoplasmacytic lymphoma without IgM production
Disease
300846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846
Aggressive B-cell non-Hodgkin lymphoma
Category
543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543
Burkitt lymphoma
Disease
544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544
Diffuse large B-cell lymphoma
Clinical group
86869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869
Lymphomatoid granulomatosis
Disease
98838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838
Primary mediastinal large B-cell lymphoma
Disease
98839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839
Intravascular large B-cell lymphoma
Disease
289661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
Disease
300849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849
Diffuse large B-cell lymphoma of the central nervous system
Disease
300857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857
T-cell/histiocyte rich large B cell lymphoma
Disease
300888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888
Diffuse large B-cell lymphoma with chronic inflammation
Disease
364043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043
ALK-positive large B-cell lymphoma
Disease
48686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686
Primary effusion lymphoma
Disease
52416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416
Mantle cell lymphoma
Disease
86852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852
B-cell prolymphocytic leukemia
Disease
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
289666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666
Plasmablastic lymphoma
Disease
480541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Disease
171918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918
T-cell non-Hodgkin lymphoma
Category
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
86870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870
Blastic plasmacytoid dendritic cell neoplasm
Disease
86871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871
T-cell prolymphocytic leukemia
Disease
86880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880
Enteropathy-associated T-cell lymphoma
Disease
86882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882
Hepatosplenic T-cell lymphoma
Disease
86886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886
Angioimmunoblastic T-cell lymphoma
Disease
98841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841
Anaplastic large cell lymphoma
Disease
300895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895
ALK-positive anaplastic large cell lymphoma
Histopathological subtype
300903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903
ALK-negative anaplastic large cell lymphoma
Histopathological subtype
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
364033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Disease
364039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039
Hydroa vacciniforme-like lymphoma
Disease
652658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658
Monomorphic epitheliotropic intestinal T-cell lymphoma
Disease
512034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034
Large granular lymphocyte leukemia
Clinical group
86872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872
T-cell large granular lymphocyte leukemia
Disease
86873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873
Aggressive NK-cell leukemia
Disease
512017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017
Chronic lymphoproliferative disorder of natural killer cells
Disease
652650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650
Nodal T-follicular helper cell lymphoma, follicular type
Disease
98293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293
Hodgkin lymphoma
Clinical group
391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391
Classic Hodgkin lymphoma
Disease
98843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843
Classic Hodgkin lymphoma, nodular sclerosis type
Histopathological subtype
98844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844
Classic Hodgkin lymphoma, mixed cellularity type
Histopathological subtype
98845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845
Classic Hodgkin lymphoma, lymphocyte-rich type
Histopathological subtype
98846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846
Classic Hodgkin lymphoma, lymphocyte-depleted type
Histopathological subtype
86893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893
Nodular lymphocyte predominant Hodgkin lymphoma
Disease
168966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966
Composite lymphoma
Disease
279911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911
Primary organ-specific lymphoma
Category
2420
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420
Primary pulmonary lymphoma
Disease
542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542
Primary cutaneous lymphoma
Category
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
178563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563
Primary cutaneous B-cell lymphoma
Category
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
46135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135
Primary central nervous system lymphoma
Disease
97285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285
Thyroid lymphoma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
279904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904
Primary intraocular lymphoma
Disease
314684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684
Primary bone lymphoma
Disease
319667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667
Primary lymphoma of the conjunctiva
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
300324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324
Persistent polyclonal B-cell lymphocytosis
Disease
160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160
Castleman disease
Disease
93685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685
Unicentric Castleman disease
Clinical subtype
570438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438
HHV-8-associated multicentric Castleman disease
Clinical subtype
570431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431
Idiopathic multicentric Castleman disease
Clinical subtype
529468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468
Monoclonal mast cell activation syndrome
Disease
86816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816
Congenital analbuminemia
Disease
98427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98427
Polycythemia
Clinical group
729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729
Polycythemia vera
Disease
90042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042
Primary familial polycythemia
Disease
98428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428
Secondary polycythemia
Category
238536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536
Congenital secondary polycythemia
Category
238557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557
Chuvash erythrocytosis
Disease
247378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378
Autosomal recessive secondary polycythemia not associated with VHL gene
Disease
247511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511
Autosomal dominant secondary polycythemia
Disease
238547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547
Acquired secondary polycythemia
Category
90041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041
Gaisböck syndrome
Disease
324299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299
Multiple paragangliomas associated with polycythemia
Disease
98429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98429
Rare coagulation disorder
Category
182054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182054
Rare thrombotic disease of hematologic origin
Category
248358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248358
Rare thrombotic disorder due to a coagulation factors defect
Category
248361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361
Rare thrombotic disorder due to a constitutional coagulation factors defect
Category
330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330
Congenital factor XII deficiency
Disease
3324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324
Familial thrombomodulin anomalies
Disease
83639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Disease
217454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454
Rare hereditary thrombophilia
Clinical group
743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743
Severe hereditary thrombophilia due to congenital protein S deficiency
Disease
745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745
Severe hereditary thrombophilia due to congenital protein C deficiency
Disease
82
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82
Hereditary thrombophilia due to congenital antithrombin deficiency
Disease
217467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Disease
248365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248365
Rare thrombotic disorder due to an acquired coagulation factors defect
Category
464343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343
Catastrophic antiphospholipid syndrome
Disease
3325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325
Heparin-induced thrombocytopenia
Disease
26349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349
Protein S acquired deficiency
Disease
49566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566
Acquired purpura fulminans
Disease
90041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041
Gaisböck syndrome
Disease
91139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139
Simple cryoglobulinemia
Disease
80
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80
Antiphospholipid syndrome
Disease
248368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248368
Rare thrombotic disorder due to a platelet anomaly
Category
54057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057
Thrombotic thrombocytopenic purpura
Disease
93583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583
Congenital thrombotic thrombocytopenic purpura
Clinical subtype
93585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585
Immune-mediated thrombotic thrombocytopenic purpura
Clinical subtype
248401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401
Rare thrombotic disorder due to a constitutional platelet anomaly
Category
71493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493
Familial thrombocytosis
Disease
329319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319
Thrombocythemia with distal limb defects
Disease
248404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248404
Rare thrombotic disorder due to an acquired platelet anomaly
Category
3318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318
Essential thrombocythemia
Disease
248308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248308
Rare hemorrhagic disorder
Category
248315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248315
Rare hemorrhagic disorder due to a coagulation factors defect
Category
68334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Category
600691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691
Combined deficiency of factor VII and factor X
Disease
3151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Disease
448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448
Hemophilia
Clinical group
98878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878
Hemophilia A
Disease
169802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802
Severe hemophilia A
Clinical subtype
169805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805
Moderate hemophilia A
Clinical subtype
169808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808
Mild hemophilia A
Clinical subtype
177926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926
Bleeding disorder in hemophilia A carriers
Clinical subtype
98879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879
Hemophilia B
Disease
169793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793
Severe hemophilia B
Clinical subtype
169796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796
Moderate hemophilia B
Clinical subtype
169799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799
Mild hemophilia B
Clinical subtype
177929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929
Bleeding disorder in hemophilia B carriers
Clinical subtype
617930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930
Hemophilia B Leyden
Clinical subtype
326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326
Congenital factor V deficiency
Disease
335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335
Congenital fibrinogen deficiency
Disease
98880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880
Familial afibrinogenemia
Clinical subtype
98881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881
Familial dysfibrinogenemia
Clinical subtype
101041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041
Familial hypofibrinogenemia
Clinical subtype
248408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408
Familial hypodysfibrinogenemia
Clinical subtype
79
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79
Congenital alpha2-antiplasmin deficiency
Disease
331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331
Congenital factor XIII deficiency
Disease
903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903
Von Willebrand disease
Disease
166078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078
Von Willebrand disease type 1
Clinical subtype
166081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081
Von Willebrand disease type 2
Clinical subtype
166084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084
Von Willebrand disease type 2A
Clinical subtype
166087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087
Von Willebrand disease type 2B
Clinical subtype
166090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090
Von Willebrand disease type 2M
Clinical subtype
166093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093
Von Willebrand disease type 2N
Clinical subtype
166096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096
Von Willebrand disease type 3
Clinical subtype
329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329
Congenital factor XI deficiency
Disease
465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465
Congenital plasminogen activator inhibitor type 1 deficiency
Disease
483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483
Congenital high-molecular-weight kininogen deficiency
Disease
749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749
Congenital prekallikrein deficiency
Disease
35909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909
Combined deficiency of factor V and factor VIII
Disease
169826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826
Congenital vitamin K-dependent coagulation factors deficiency
Category
327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327
Congenital factor VII deficiency
Disease
325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325
Congenital factor II deficiency
Disease
328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328
Congenital factor X deficiency
Disease
98434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434
Hereditary combined deficiency of vitamin K-dependent clotting factors
Disease
178396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Disease
599519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519
Factor V short isoforms-related bleeding disorder
Disease
391320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320
East Texas bleeding disorder
Etiological subtype
599579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579
Factor V Amsterdam bleeding disorder
Etiological subtype
600194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194
Factor V Atlanta bleeding disorder
Etiological subtype
436169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169
Thrombomodulin-related bleeding disorder
Disease
166775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166775
Rare hemorrhagic disorder due to an acquired coagulation factor defect
Category
26348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26348
Acquired prothrombin deficiency
Disease
99147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147
Acquired von Willebrand syndrome
Disease
599507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507
Acquired factor XI deficiency
Disease
599495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495
Acquired factor VII deficiency
Disease
599501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501
Acquired factor X deficiency
Disease
599480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480
Acquired hemophilia A
Disease
599490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490
Acquired factor V deficiency
Disease
599485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485
Acquired hemophilia B
Disease
599513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513
Acquired factor XIII deficiency
Disease
248326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248326
Rare hemorrhagic disorder due to a platelet anomaly
Category
71202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Category
275729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Category
477794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477794
Syndromic constitutional thrombocytopenia
Category
652522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Disease
480851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851
Hereditary thrombocytopenia with early-onset myelofibrosis
Disease
3204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204
Stormorken-Sjaastad-Langslet syndrome
Disease
3320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320
Thrombocytopenia-absent radius syndrome
Malformation syndrome
71289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Malformation syndrome
182050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050
MYH9-related disease
Disease
602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602
GNE myopathy
Disease
2308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308
Jacobsen syndrome
Malformation syndrome
220448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448
Macrothrombocytopenia with mitral valve insufficiency
Disease
734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734
Alpha delta granule deficiency
Disease
98456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456
Dense granule disease
Category
906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906
Wiskott-Aldrich syndrome
Disease
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
71290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290
Familial platelet disorder with associated myeloid malignancy
Disease
79430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430
Hermansky-Pudlak syndrome
Disease
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
231512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Clinical subtype
231531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Clinical subtype
487796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Malformation syndrome
494444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Disease
261323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323
21q22.11q22.12 microdeletion syndrome
Malformation syndrome
477797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477797
Isolated constitutional thrombocytopenia
Category
220452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452
Isolated hereditary giant platelet disorder
Category
438207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207
Severe autosomal recessive macrothrombocytopenia
Disease
274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274
Bernard-Soulier syndrome
Disease
67044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044
Thrombocytopenia with congenital dyserythropoietic anemia
Disease
140957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957
Autosomal dominant macrothrombocytopenia
Disease
98455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455
Alpha granule disease
Category
721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721
Gray platelet syndrome
Disease
220436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436
Quebec platelet disorder
Disease
370127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127
Medich giant platelet syndrome
Disease
370131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131
White platelet syndrome
Disease
851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851
Paris-Trousseau thrombocytopenia
Disease
363727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Disease
268322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322
Hereditary thrombocytopenia with normal platelets
Disease
852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852
X-linked thrombocytopenia with normal platelets
Etiological subtype
168629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629
Autosomal thrombocytopenia with normal platelets
Etiological subtype
71290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290
Familial platelet disorder with associated myeloid malignancy
Disease
3319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319
Congenital amegakaryocytic thrombocytopenia
Disease
220443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443
Bleeding diathesis due to thromboxane synthesis deficiency
Disease
248340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340
Isolated delta-storage pool disease
Disease
466806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806
Autosomal dominant thrombocytopenia with platelet secretion defect
Disease
566192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192
Congenital autosomal recessive small-platelet thrombocytopenia
Disease
275736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736
Rare hemorrhagic disorder due to a qualitative platelet defect
Category
849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849
Glanzmann thrombasthenia
Disease
477787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Disease
806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806
Scott syndrome
Disease
36355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355
Bleeding disorder due to P2Y12 defect
Disease
52530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530
Pseudo-von Willebrand disease
Disease
73271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271
Bleeding diathesis due to a collagen receptor defect
Disease
98885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885
Bleeding diathesis due to glycoprotein VI deficiency
Etiological subtype
98886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Etiological subtype
420566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566
Bleeding disorder due to CalDAG-GEFI deficiency
Disease
248347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248347
Rare hemorrhagic disorder due to an acquired platelet anomaly
Category
464321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Disease
457077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077
TAFRO syndrome
Disease
244242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242
HELLP syndrome
Disease
853
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853
Fetal and neonatal alloimmune thrombocytopenia
Disease
71203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71203
Autoimmune thrombocytopenia
Clinical group
3002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002
Immune thrombocytopenia
Disease
1959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959
Evans syndrome
Disease
438159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159
STAT3-related early-onset multisystem autoimmune disease
Disease
2330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330
Kasabach-Merritt phenomenon
Particular clinical situation in a disease or syndrome
108997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108997
Rare anemia
Category
1047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047
Sideroblastic anemia
Category
75564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564
Acquired idiopathic sideroblastic anemia
Disease
98362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362
Constitutional sideroblastic anemia
Category
699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Pearson syndrome
Disease
2598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598
Mitochondrial myopathy and sideroblastic anemia
Disease
2802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802
X-linked sideroblastic anemia and spinocerebellar ataxia
Disease
49827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Thiamine-responsive megaloblastic anemia syndrome
Disease
75563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563
X-linked sideroblastic anemia
Disease
255132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132
Adult-onset autosomal recessive sideroblastic anemia
Disease
260305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305
Autosomal recessive sideroblastic anemia
Disease
300298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298
Severe congenital hypochromic anemia with ringed sideroblasts
Disease
369861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disease
68364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364
Hemoglobinopathy
Category
2133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133
Hemoglobin E disease
Disease
90039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039
Hemoglobin D disease
Disease
99139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139
Unstable hemoglobin disease
Disease
275745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745
Alpha-thalassemia and related disorders
Category
846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846
Alpha-thalassemia
Disease
93616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616
Hemoglobin H disease
Clinical subtype
163596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596
Hb Bart's hydrops fetalis
Clinical subtype
232288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288
Syndrome with alpha-thalassemia as a major feature
Category
847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Alpha-thalassemia-X-linked intellectual disability syndrome
Malformation syndrome
98791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Malformation syndrome
231401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401
Alpha-thalassemia-myelodysplastic syndrome
Disease
275749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749
Beta-thalassemia and related diseases
Category
848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848
Beta-thalassemia
Disease
231214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214
Beta-thalassemia major
Clinical subtype
231222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222
Beta-thalassemia intermedia
Clinical subtype
231226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226
Dominant beta-thalassemia
Clinical subtype
231230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230
Beta-thalassemia associated with another hemoglobin anomaly
Category
46532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Disease
231237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237
Delta-beta-thalassemia
Disease
231242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242
Hemoglobin C-beta-thalassemia syndrome
Disease
231249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249
Hemoglobin E-beta-thalassemia syndrome
Disease
330032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032
Hemoglobin Lepore-beta-thalassemia syndrome
Disease
231386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386
Beta-thalassemia with other manifestations
Category
231393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393
Beta-thalassemia-X-linked thrombocytopenia syndrome
Disease
275752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752
Sickle cell disease and related diseases
Category
232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
Sickle cell anemia
Disease
251355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251355
Sickle cell disease associated with another hemoglobin anomaly
Category
251359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359
Sickle cell-beta-thalassemia disease syndrome
Disease
251365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365
Sickle cell-hemoglobin C disease syndrome
Disease
251370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370
Sickle cell-hemoglobin D disease syndrome
Disease
251375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375
Sickle cell-hemoglobin E disease syndrome
Disease
251380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Disease
280615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615
Hemoglobinopathy Toms River
Disease
621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621
Hereditary methemoglobinemia
Disease
2132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132
Hemoglobin C disease
Disease
619233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Disease
330041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041
Hemoglobin M disease
Disease
464453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453
Acquired methemoglobinemia
Disease
98363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98363
Rare hemolytic anemia
Category
182043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043
Rare constitutional hemolytic anemia
Category
576742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742
Genetic hemolytic uremic syndrome
Category
2134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134
Atypical hemolytic uremic syndrome
Disease
93581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Etiological subtype
544472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472
Atypical hemolytic uremic syndrome with complement gene abnormality
Etiological subtype
357008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008
Hemolytic uremic syndrome with DGKE deficiency
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
1046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046
Lethal hemolytic anemia-genital anomalies syndrome
Malformation syndrome
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
86818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Disease
98364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Category
822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822
Hereditary spherocytosis
Disease
288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288
Hereditary elliptocytosis
Disease
93610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610
Distal renal tubular acidosis with anemia
Clinical subtype
98365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365
Hereditary stomatocytosis
Clinical group
3203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203
Overhydrated hereditary stomatocytosis
Disease
3202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202
Dehydrated hereditary stomatocytosis
Disease
71275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275
Rh deficiency syndrome
Disease
90044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044
Familial pseudohyperkalemia
Disease
98868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868
Southeast Asian ovalocytosis
Disease
168577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577
Hereditary cryohydrocytosis with reduced stomatin
Disease
398088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088
Hereditary cryohydrocytosis with normal stomatin
Disease
98366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366
Constitutional hemolytic anemia due to acanthocytosis
Category
14
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Abetalipoproteinemia
Disease
59306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306
McLeod neuroacanthocytosis syndrome
Disease
169464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464
Primary CD59 deficiency
Disease
98369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369
Rare constitutional hemolytic anemia due to an enzyme disorder
Category
79277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Congenital erythropoietic porphyria
Disease
98370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Category
32
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32
Glutathione synthetase deficiency
Disease
289846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846
Glutathione synthetase deficiency with 5-oxoprolinuria
Clinical subtype
289849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849
Glutathione synthetase deficiency without 5-oxoprolinuria
Clinical subtype
33574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574
Glutamate-cysteine ligase deficiency
Disease
90030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030
Hemolytic anemia due to glutathione reductase deficiency
Disease
99135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135
6-phosphogluconate dehydrogenase deficiency
Disease
98372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372
Hemolytic anemia due to a disorder of glycolytic enzymes
Category
371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371
Glycogen storage disease due to muscle phosphofructokinase deficiency
Disease
868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868
Triose phosphate-isomerase deficiency
Disease
57
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57
Glycogen storage disease due to aldolase A deficiency
Disease
713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Disease
766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766
Hemolytic anemia due to red cell pyruvate kinase deficiency
Disease
712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712
Hemolytic anemia due to glucophosphate isomerase deficiency
Disease
714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Disease
90031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Disease
466026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026
Class I glucose-6-phosphate dehydrogenase deficiency
Disease
98374
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Category
35120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Disease
86817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817
Hemolytic anemia due to adenylate kinase deficiency
Disease
99138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Disease
182047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182047
Rare acquired hemolytic anemia
Category
447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447
Paroxysmal nocturnal hemoglobinuria
Disease
98375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98375
Autoimmune hemolytic anemia
Clinical group
228312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312
Autoimmune hemolytic anemia, cold type
Clinical group
56425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425
Cold agglutinin disease
Disease
90035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035
Paroxysmal cold hemoglobinuria
Disease
438159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159
STAT3-related early-onset multisystem autoimmune disease
Disease
1959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959
Evans syndrome
Disease
90033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033
Autoimmune hemolytic anemia, warm type
Disease
90036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036
Mixed-type autoimmune hemolytic anemia
Disease
90037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037
Drug-induced autoimmune hemolytic anemia
Disease
275938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275938
Hemolytic disease due to fetomaternal alloimmunization
Category
275944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944
Hemolytic disease of the newborn with Kell alloimmunization
Disease
544482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482
Infection-related hemolytic uremic syndrome
Disease
90038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038
Shiga toxin-associated hemolytic uremic syndrome
Clinical subtype
544493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493
Streptococcus pneumoniae-associated hemolytic uremic syndrome
Clinical subtype
182040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040
Rare aplastic anemia
Category
68383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383
Rare constitutional aplastic anemia
Category
124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Diamond-Blackfan anemia
Disease
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088
Revesz syndrome
Malformation syndrome
3322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322
Hoyeraal-Hreidarsson syndrome
Disease
3466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
WT limb-blood syndrome
Disease
3319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319
Congenital amegakaryocytic thrombocytopenia
Disease
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
314399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399
Autosomal dominant aplasia and myelodysplasia
Disease
397692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692
Hereditary isolated aplastic anemia
Disease
401764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764
Pancytopenia-developmental delay syndrome
Disease
611216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216
Aplastic anemia-intellectual disability-dwarfism syndrome
Disease
164823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823
Rare acquired aplastic anemia
Category
447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447
Paroxysmal nocturnal hemoglobinuria
Disease
824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Primary myelofibrosis
Disease
88
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88
Idiopathic aplastic anemia
Disease
98421
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421
Primary acquired red cell aplasia
Clinical group
98871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871
Transient erythroblastopenia of childhood
Disease
98872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872
Primary acquired pure red cell aplasia
Disease
248293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248293
Rare deficiency anemia
Category
248296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296
Constitutional deficiency anemia
Category
98360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360
Constitutional anemia due to iron metabolism disorder
Category
1195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195
Congenital atransferrinemia
Disease
48818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818
Aceruloplasminemia
Disease
83642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642
Microcytic anemia with liver iron overload
Disease
209981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981
IRIDA syndrome
Disease
300298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298
Severe congenital hypochromic anemia with ringed sideroblasts
Disease
98396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Category
26
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26
Methylmalonic acidemia with homocystinuria
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
79283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283
Methylmalonic acidemia with homocystinuria, type cblD
Clinical subtype
79284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284
Methylmalonic acidemia with homocystinuria type cblF
Clinical subtype
369955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955
Methylmalonic acidemia with homocystinuria, type cblJ
Clinical subtype
369962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962
Methylmalonic acidemia with homocystinuria, type cblX
Clinical subtype
859
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859
Transcobalamin deficiency
Disease
332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332
Congenital intrinsic factor deficiency
Disease
622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622
Homocystinuria without methylmalonic aciduria
Disease
2169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169
Methylcobalamin deficiency type cblE
Clinical subtype
2170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170
Methylcobalamin deficiency type cblG
Clinical subtype
308380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380
Methylcobalamin deficiency type cblDv1
Clinical subtype
35858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858
Imerslund-Gräsbeck syndrome
Disease
98408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408
Constitutional megaloblastic anemia due to folate metabolism disorder
Category
51208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208
Formiminoglutamic aciduria
Disease
90045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045
Hereditary folate malabsorption
Disease
319651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651
Constitutional megaloblastic anemia with severe neurologic disease
Disease
658813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813
Methylenetetrahydrofolate dehydrogenase 1 deficiency
Disease
98415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Category
30
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30
Hereditary orotic aciduria
Disease
49827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Thiamine-responsive megaloblastic anemia syndrome
Disease
206428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Clinical group
510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510
Lesch-Nyhan syndrome
Disease
79233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Disease
248302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248302
Rare acquired deficiency anemia
Category
54028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028
Plummer-Vinson syndrome
Disease
293830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830
Constitutional dyserythropoietic anemia
Category
85
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85
Congenital dyserythropoietic anemia
Clinical group
67044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044
Thrombocytopenia with congenital dyserythropoietic anemia
Disease
98869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869
Congenital dyserythropoietic anemia type I
Disease
98870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870
Congenital dyserythropoietic anemia type III
Disease
98873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873
Congenital dyserythropoietic anemia type II
Disease
293825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825
Congenital dyserythropoietic anemia type IV
Disease
363727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Disease
77297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297
Majeed syndrome
Disease
199337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337
Pancreatic insufficiency-anemia-hyperostosis syndrome
Disease
440731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731
L-ferritin deficiency
Biological anomaly
450322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322
Polyclonal hyperviscosity syndrome
Clinical syndrome
617294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294
Twin anemia-polycythemia sequence
Disease
570470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470
Ricin poisoning
Disease