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- Rare neoplastic disease ORPHA:250908
- Rare tumor ORPHA:98057
- Germ cell tumor ORPHA:3399
- Extragonadal germ cell tumor ORPHA:363579
- Extragonadal non-dysgerminomatous germ cell tumor ORPHA:99913
- Yolk sac tumor ORPHA:876
- Extragonadal teratoma ORPHA:883
- Epignathus ORPHA:141077
- Nasopharyngeal teratoma ORPHA:141107
- Teratoma of the central nervous system ORPHA:252018
- Sacrococcygeal teratoma ORPHA:494421
- Gestational choriocarcinoma ORPHA:99926
- Embryonal carcinoma ORPHA:180226
- Embryonal carcinoma of the central nervous system ORPHA:48736
- Non-central nervous system-localized embryonal carcinoma ORPHA:289362
- Polyembryoma ORPHA:180229
- Mixed germ cell tumor ORPHA:180234
- Growing teratoma syndrome ORPHA:314613
- Extragonadal germinoma ORPHA:182127
- Primary germ cell tumor of central nervous system ORPHA:251995
- Embryonal carcinoma of the central nervous system ORPHA:48736
- Germinoma of the central nervous system ORPHA:91352
- Yolk sac tumor of central nervous system ORPHA:252006
- Choriocarcinoma of the central nervous system ORPHA:252015
- Teratoma of the central nervous system ORPHA:252018
- Mixed germ cell tumor of central nervous system ORPHA:252021
- Gonadal germ cell tumor ORPHA:363582
- Tumor of hematopoietic and lymphoid tissues ORPHA:68347
- Bloom syndrome ORPHA:125
- Mastocytosis ORPHA:98292
- Systemic mastocytosis ORPHA:2467
- Indolent systemic mastocytosis ORPHA:98848
- Systemic mastocytosis with associated hematologic neoplasm ORPHA:98849
- Aggressive systemic mastocytosis ORPHA:98850
- Mast cell leukemia ORPHA:98851
- Smoldering systemic mastocytosis ORPHA:158775
- Isolated bone marrow mastocytosis ORPHA:158778
- Cutaneous mastocytosis ORPHA:66646
- Cutaneous mastocytoma ORPHA:79455
- Diffuse cutaneous mastocytosis ORPHA:79456
- Bullous diffuse cutaneous mastocytosis ORPHA:280785
- Pseudoxanthomatous diffuse cutaneous mastocytosis ORPHA:280794
- Maculopapular cutaneous mastocytosis ORPHA:79457
- Mast cell sarcoma ORPHA:66661
- Extracutaneous mastocytoma ORPHA:66662
- Myeloid hemopathy ORPHA:171895
- Acute myeloid leukemia ORPHA:519
- Acute myeloid leukaemia with myelodysplasia-related features ORPHA:86845
- Therapy related acute myeloid leukemia and myelodysplastic syndrome ORPHA:86846
- Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379
- Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381
- Acute myeloid leukemia and myelodysplastic syndromes related to radiation ORPHA:164726
- Acute leukemia of ambiguous lineage ORPHA:86851
- Mixed phenotype acute leukemia ORPHA:530995
- Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) ORPHA:589534
- Mixed phenotype acute leukemia with t(v;11q23.3) ORPHA:589595
- Acute undifferentiated leukemia ORPHA:98835
- Acute myeloid leukemia with recurrent genetic anomaly ORPHA:98277
- Acute promyelocytic leukemia ORPHA:520
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ORPHA:98829
- Acute myeloid leukemia with 11q23 abnormalities ORPHA:98831
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724
- Acute myeloid leukemia with CEBPA somatic mutations ORPHA:319480
- Acute myeloid leukemia with t(8;16)(p11;p13) translocation ORPHA:370026
- Acute myeloid leukemia with t(6;9)(p23;q34) ORPHA:402014
- Acute myeloid leukemia with t(9;11)(p22;q23) ORPHA:402017
- Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) ORPHA:402020
- Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) ORPHA:402023
- Acute myeloid leukemia with NPM1 somatic mutations ORPHA:402026
- Acute myeloid leukemia with t(9;22)(q34.1;q11.2) ORPHA:585867
- Unclassified acute myeloid leukemia ORPHA:167714
- Acute monoblastic/monocytic leukemia ORPHA:514
- Acute erythroid leukemia ORPHA:318
- Acute megakaryoblastic leukemia ORPHA:518
- Acute megakaryoblastic leukemia in children with Down syndrome ORPHA:99887
- Acute megakaryoblastic leukemia in children without Down syndrome ORPHA:329469
- Acute megakaryoblastic leukemia in adult ORPHA:662934
- Acute panmyelosis with myelofibrosis ORPHA:86843
- Acute basophilic leukemia ORPHA:86849
- Myeloid sarcoma ORPHA:86850
- Acute myeloid leukemia with minimal differentiation ORPHA:98832
- Acute myeloblastic leukemia without maturation ORPHA:98833
- Acute myeloblastic leukemia with maturation ORPHA:98834
- Acute myelomonocytic leukemia ORPHA:517
- Inherited acute myeloid leukemia ORPHA:319465
- Myelodysplastic syndrome ORPHA:52688
- Acquired idiopathic sideroblastic anemia ORPHA:75564
- Refractory cytopenia with multilineage dysplasia ORPHA:86836
- Myelodysplastic neoplasm with low blasts ORPHA:98826
- Unclassified myelodysplastic syndrome ORPHA:98827
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Myelodysplastic neoplasm with increased blasts ORPHA:86839
- Myelodysplastic neoplasm with increased blasts type 1 ORPHA:100019
- Myelodysplastic neoplasm with increased blasts type 2 ORPHA:100020
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality ORPHA:86841
- Refractory anemia with excess blasts in transformation ORPHA:168960
- Familial monosomy 7 syndrome ORPHA:495930
- Myeloproliferative neoplasm ORPHA:98274
- 14q32 duplication syndrome ORPHA:488280
- Essential thrombocythemia ORPHA:3318
- Chronic myeloid leukemia ORPHA:521
- Primary myelofibrosis ORPHA:824
- Polycythemia vera ORPHA:729
- Chronic neutrophilic leukemia ORPHA:86829
- Chronic myeloproliferative disease, unclassifiable ORPHA:86830
- Chronic eosinophilic leukemia ORPHA:168940
- Hypereosinophilic syndrome ORPHA:168956
- Idiopathic hypereosinophilic syndrome ORPHA:3260
- Primary hypereosinophilic syndrome ORPHA:314950
- Secondary hypereosinophilic syndrome ORPHA:314962
- Transient myeloproliferative syndrome ORPHA:420611
- Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Myelodysplastic/myeloproliferative disease ORPHA:98275
- Juvenile myelomonocytic leukemia ORPHA:86834
- Chronic myelomonocytic leukemia ORPHA:98823
- Atypical chronic myeloid leukemia ORPHA:98824
- Unclassified myelodysplastic/myeloproliferative disease ORPHA:98825
- Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 ORPHA:168943
- Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement ORPHA:168947
- Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ORPHA:168950
- Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement ORPHA:168953
- Myeloid/lymphoid neoplasm associated with JAK2 rearrangement ORPHA:589542
- Lymphoid hemopathy ORPHA:171898
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Plasma cell tumor ORPHA:98282
- POEMS syndrome ORPHA:2905
- Multiple myeloma ORPHA:29073
- AL amyloidosis ORPHA:85443
- Plasmacytoma ORPHA:86855
- Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861
- Heavy chain deposition disease ORPHA:93556
- Light and heavy chain deposition disease ORPHA:93557
- Light chain deposition disease ORPHA:93558
- Heavy chain disease ORPHA:86864
- Mu-heavy chain disease ORPHA:100024
- Alpha-heavy chain disease ORPHA:100025
- Gamma-heavy chain disease ORPHA:100026
- Plasma cell leukemia ORPHA:454714
- Histiocytic and dendritic cell tumor ORPHA:98287
- Macrophage or histiocytic tumor ORPHA:98288
- Dendritic cell tumor ORPHA:98289
- Langerhans cell histiocytosis ORPHA:389
- Pulmonary Langerhans cell histiocytosis ORPHA:687733
- Multisystem Langerhans cell histiocytosis ORPHA:687741
- Single-system multifocal Langerhans cell histiocytosis ORPHA:687738
- Unifocal Langerhans cell histiocytosis ORPHA:687730
- Langerhans cell sarcoma ORPHA:86897
- Interdigitating dendritic cell sarcoma ORPHA:86900
- Dendritic cell sarcoma not otherwise specified ORPHA:86903
- Indeterminate cell histiocytosis ORPHA:158019
- Immunodeficiency-associated lymphoproliferative disease ORPHA:98290
- Post-transplant lymphoproliferative disease ORPHA:70568
- Methotrexate-associated lymphoproliferative disorders ORPHA:86904
- Lymphoproliferative disease associated with primary immune disease ORPHA:98291
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Lymphoma ORPHA:223735
- Non-Hodgkin lymphoma ORPHA:547
- Acute lymphoblastic leukemia ORPHA:513
- Precursor B-cell acute lymphoblastic leukemia ORPHA:99860
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality ORPHA:585877
- B-lymphoblastic leukemia/lymphoma with t(17;19) ORPHA:641375
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) ORPHA:585918
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) ORPHA:585929
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORPHA:585936
- B-lymphoblastic leukemia/lymphoma with hypodiploidy ORPHA:585942
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) ORPHA:585948
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ORPHA:585956
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) ORPHA:641372
- Precursor T-cell acute lymphoblastic leukemia ORPHA:99861
- B-cell non-Hodgkin lymphoma ORPHA:171915
- Indolent B-cell non-Hodgkin lymphoma ORPHA:300842
- Follicular lymphoma ORPHA:545
- Waldenström macroglobulinemia ORPHA:33226
- Classic hairy cell leukemia ORPHA:58017
- B-cell chronic lymphocytic leukemia ORPHA:67038
- Indolent primary cutaneous B-cell lymphoma ORPHA:178557
- Primary cutaneous marginal zone B-cell lymphoma ORPHA:178536
- Primary cutaneous follicle center lymphoma ORPHA:178540
- Hairy cell leukemia variant ORPHA:300878
- Marginal zone lymphoma ORPHA:300912
- MALT lymphoma ORPHA:52417
- Splenic marginal zone lymphoma ORPHA:86854
- Nodal marginal zone B-cell lymphoma ORPHA:86867
- Splenic diffuse red pulp small B-cell lymphoma ORPHA:300869
- Lymphoplasmacytic lymphoma without IgM production ORPHA:443159
- Aggressive B-cell non-Hodgkin lymphoma ORPHA:300846
- Burkitt lymphoma ORPHA:543
- Diffuse large B-cell lymphoma ORPHA:544
- Lymphomatoid granulomatosis ORPHA:86869
- Primary mediastinal large B-cell lymphoma ORPHA:98838
- Intravascular large B-cell lymphoma ORPHA:98839
- Epstein-Barr virus-positive diffuse large B-cell lymphoma ORPHA:289661
- Diffuse large B-cell lymphoma of the central nervous system ORPHA:300849
- T-cell/histiocyte rich large B cell lymphoma ORPHA:300857
- Diffuse large B-cell lymphoma with chronic inflammation ORPHA:300888
- ALK-positive large B-cell lymphoma ORPHA:364043
- Primary effusion lymphoma ORPHA:48686
- Mantle cell lymphoma ORPHA:52416
- B-cell prolymphocytic leukemia ORPHA:86852
- Aggressive primary cutaneous B-cell lymphoma ORPHA:178554
- Plasmablastic lymphoma ORPHA:289666
- High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement ORPHA:480541
- T-cell non-Hodgkin lymphoma ORPHA:171918
- Post-transplant lymphoproliferative disease ORPHA:70568
- Blastic plasmacytoid dendritic cell neoplasm ORPHA:86870
- T-cell prolymphocytic leukemia ORPHA:86871
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Hepatosplenic T-cell lymphoma ORPHA:86882
- Angioimmunoblastic T-cell lymphoma ORPHA:86886
- Anaplastic large cell lymphoma ORPHA:98841
- ALK-positive anaplastic large cell lymphoma ORPHA:300895
- ALK-negative anaplastic large cell lymphoma ORPHA:300903
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood ORPHA:364033
- Hydroa vacciniforme-like lymphoma ORPHA:364039
- Breast implant-associated anaplastic large cell lymphoma ORPHA:667662
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Large granular lymphocyte leukemia ORPHA:512034
- T-cell large granular lymphocyte leukemia ORPHA:86872
- Aggressive NK-cell leukemia ORPHA:86873
- Chronic lymphoproliferative disorder of natural killer cells ORPHA:512017
- Nodal T-follicular helper cell lymphoma, follicular type ORPHA:652650
- Hodgkin lymphoma ORPHA:98293
- Classic Hodgkin lymphoma ORPHA:391
- Classic Hodgkin lymphoma, nodular sclerosis type ORPHA:98843
- Classic Hodgkin lymphoma, mixed cellularity type ORPHA:98844
- Classic Hodgkin lymphoma, lymphocyte-rich type ORPHA:98845
- Classic Hodgkin lymphoma, lymphocyte-depleted type ORPHA:98846
- Nodular lymphocyte predominant Hodgkin lymphoma ORPHA:86893
- Composite lymphoma ORPHA:168966
- Primary organ-specific lymphoma ORPHA:279911
- Primary pulmonary lymphoma ORPHA:2420
- Primary cutaneous lymphoma ORPHA:542
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Primary cutaneous B-cell lymphoma ORPHA:178563
- Primary central nervous system lymphoma ORPHA:46135
- Thyroid lymphoma ORPHA:97285
- Primary oculocerebral lymphoma ORPHA:279897
- Primary intraocular lymphoma ORPHA:279904
- Primary bone lymphoma ORPHA:314684
- Primary lymphoma of the conjunctiva ORPHA:319667
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Persistent polyclonal B-cell lymphocytosis ORPHA:300324
- Castleman disease ORPHA:160
- Monoclonal mast cell activation syndrome ORPHA:529468
- Rare bone tumor ORPHA:68411
- Chordoma ORPHA:178
- Aneurysmal bone cyst ORPHA:480553
- Ollier disease ORPHA:296
- OSLAM syndrome ORPHA:2760
- Multiple osteochondromas ORPHA:321
- Adamantinoma ORPHA:55881
- Osteoblastoma ORPHA:58040
- Solitary bone cyst ORPHA:83468
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Maffucci syndrome ORPHA:163634
- Bone sarcoma ORPHA:223727
- Undifferentiated pleomorphic sarcoma ORPHA:2023
- Fibrosarcoma ORPHA:2030
- Osteosarcoma ORPHA:668
- Skeletal Ewing sarcoma ORPHA:319
- Chondrosarcoma ORPHA:55880
- Giant cell tumor of bone ORPHA:363976
- Peripheral primitive neuroectodermal tumor ORPHA:370348
- Chondromyxoid fibroma ORPHA:404507
- Familial ossifying fibroma ORPHA:435329
- Rare soft tissue tumor ORPHA:71209
- Nodular fasciitis ORPHA:477742
- Myopericytoma ORPHA:289685
- Tenosynovial giant cell tumor ORPHA:66627
- Juvenile hyaline fibromatosis ORPHA:2028
- Kaposiform hemangioendothelioma ORPHA:2122
- Infantile myofibromatosis ORPHA:2591
- Soft tissue sarcoma ORPHA:3394
- SMARCA4-deficient sarcoma of thorax ORPHA:466962
- Rhabdomyosarcoma ORPHA:780
- Alveolar rhabdomyosarcoma ORPHA:99756
- Embryonal rhabdomyosarcoma ORPHA:99757
- Pleomorphic rhabdomyosarcoma ORPHA:293199
- Undifferentiated pleomorphic sarcoma ORPHA:2023
- Fibrosarcoma ORPHA:2030
- Solitary fibrous tumor ORPHA:2126
- Malignant peripheral nerve sheath tumor ORPHA:3148
- Malignant triton tumor ORPHA:252212
- Malignant peripheral nerve sheath tumor with perineurial differentiation ORPHA:252128
- Synovial sarcoma ORPHA:3273
- Dermatofibrosarcoma protuberans ORPHA:31112
- Kaposi sarcoma ORPHA:33276
- Leiomyosarcoma ORPHA:64720
- Rhabdoid tumor ORPHA:69077
- Liposarcoma ORPHA:69078
- Myxoid/round cell liposarcoma ORPHA:99967
- Pleomorphic liposarcoma ORPHA:99969
- Dedifferentiated liposarcoma ORPHA:99970
- Well-differentiated liposarcoma ORPHA:99971
- Myxofibrosarcoma ORPHA:79105
- Desmoplastic small round cell tumor ORPHA:83469
- Alveolar soft tissue sarcoma ORPHA:163699
- Extraskeletal myxoid chondrosarcoma ORPHA:209916
- Angiosarcoma ORPHA:263413
- Epithelioid sarcoma ORPHA:293202
- Extraskeletal Ewing sarcoma ORPHA:370334
- Isolated melanotic schwannoma ORPHA:590539
- Follicular dendritic cell sarcoma ORPHA:86902
- Peripheral primitive neuroectodermal tumor ORPHA:370348
- Atypical teratoid rhabdoid tumor ORPHA:99966
- Desmoid tumor ORPHA:873
- Mazabraud syndrome ORPHA:57782
- Melanoma of soft tissue ORPHA:97338
- Congenital epulis ORPHA:157826
- Inflammatory myofibroblastic tumor ORPHA:178342
- Lipoblastoma ORPHA:247762
- Glomus tumor ORPHA:391651
- Perivascular epithelioid cell neoplasm ORPHA:595133
- Rare skin tumor or hamartoma ORPHA:79386
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Gorlin syndrome ORPHA:377
- Tuberous sclerosis complex ORPHA:805
- Extramammary Paget disease ORPHA:2800
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Bazex-Dupré-Christol syndrome ORPHA:113
- Rombo syndrome ORPHA:3110
- Primary cutaneous lymphoma ORPHA:542
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Primary cutaneous B-cell lymphoma ORPHA:178563
- Infantile myofibromatosis ORPHA:2591
- Familial melanoma ORPHA:618
- Proliferating trichilemmal cyst ORPHA:492
- Syringocystadenoma papilliferum ORPHA:840
- Trichofolliculoma ORPHA:864
- Birt-Hogg-Dubé syndrome ORPHA:122
- Familial keratoacanthoma ORPHA:493
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Dermatofibrosarcoma protuberans ORPHA:31112
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Multiple self-healing squamous epithelioma ORPHA:65748
- Cutaneous neuroendocrine carcinoma ORPHA:79140
- Brooke-Spiegler syndrome ORPHA:79493
- Gardner syndrome ORPHA:79665
- Pilomatrixoma ORPHA:91414
- Generalized basaloid follicular hamartoma syndrome ORPHA:168632
- Malignant melanoma of the mucosa ORPHA:168999
- Superficial fibromatosis ORPHA:199257
- Ledderhose disease ORPHA:199251
- Calcifying aponeurotic fibroma ORPHA:199260
- Infantile digital fibromatosis ORPHA:199267
- Congenital smooth muscle hamartoma ORPHA:263435
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Rare nevus ORPHA:294057
- Cowden syndrome ORPHA:201
- Large/giant congenital melanocytic nevus ORPHA:626
- Linear nevus sebaceus syndrome ORPHA:2612
- Proteus syndrome ORPHA:744
- CHILD syndrome ORPHA:139
- Neurocutaneous melanocytosis ORPHA:2481
- Phakomatosis pigmentokeratotica ORPHA:2874
- Proteus-like syndrome ORPHA:2969
- Linear verrucous nevus syndrome ORPHA:2611
- Inflammatory linear verrucous epidermal nevus ORPHA:79466
- Verrucous nevus ORPHA:79467
- Acanthokeratolytic verrucous nevus ORPHA:79468
- Epidermal nevus syndrome ORPHA:35125
- Nevus comedonicus syndrome ORPHA:64754
- Becker nevus syndrome ORPHA:64755
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Congenital panfollicular nevus ORPHA:139414
- CLOVES syndrome ORPHA:140944
- Porokeratotic eccrine ostial and dermal duct nevus ORPHA:166286
- White sponge nevus ORPHA:171723
- Nevus of Ota ORPHA:263425
- Nevus of Ito ORPHA:263432
- PENS syndrome ORPHA:313936
- Angora hair nevus ORPHA:370039
- Didymosis aplasticosebacea ORPHA:370046
- SCALP syndrome ORPHA:370052
- NEVADA syndrome ORPHA:370059
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Epidermolytic nevus ORPHA:497737
- Rare nail tumor ORPHA:300515
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Generalized eruptive keratoacanthoma ORPHA:411777
- Pilomatrix carcinoma ORPHA:499182
- Familial multiple discoid fibromas ORPHA:538756
- Angiomatoid fibrous histiocytoma ORPHA:569164
- Eccrine angiomatous hamartoma ORPHA:673568
- Intravascular papillary endothelial hyperplasia ORPHA:673525
- Rare renal tumor ORPHA:93619
- Benign metanephric tumor ORPHA:464359
- Congenital mesoblastic nephroma ORPHA:2665
- Nephroblastoma ORPHA:654
- Multiloculated renal cyst ORPHA:97366
- Renal cell carcinoma ORPHA:217071
- Collecting duct carcinoma ORPHA:247203
- Clear cell renal carcinoma ORPHA:319276
- Multilocular cystic renal neoplasm of low malignant potential ORPHA:319287
- Clear cell papillary renal cell carcinoma ORPHA:404511
- Papillary renal cell carcinoma ORPHA:319298
- Chromophobe renal cell carcinoma ORPHA:319303
- MiT family translocation renal cell carcinoma ORPHA:319308
- Renal medullary carcinoma ORPHA:319319
- Mucinous tubular and spindle cell renal carcinoma ORPHA:319322
- Tubulocystic renal cell carcinoma ORPHA:319325
- Acquired cystic disease-associated renal cell carcinoma ORPHA:404514
- Cystic hamartoma of lung and kidney ORPHA:2111
- Clear cell sarcoma of kidney ORPHA:457246
- Rare digestive tumor ORPHA:98059
- Rare hepatic and biliary tract tumor ORPHA:101943
- Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633
- Carcinoma of gallbladder and extrahepatic biliary tract ORPHA:56044
- Cholangiocarcinoma ORPHA:70567
- Perihilar cholangiocarcinoma ORPHA:99978
- Adenocarcinoma of the gallbladder and extrahepatic biliary tract ORPHA:424991
- Squamous cell carcinoma of gallbladder and extrahepatic biliary tract ORPHA:424996
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Gallbladder neuroendocrine tumor ORPHA:100086
- Rare tumor of liver and intrahepatic biliary tract ORPHA:306636
- Hepatoblastoma ORPHA:449
- Hepatic cystic hamartoma ORPHA:386
- Hepatocellular adenoma ORPHA:54272
- Undifferentiated embryonal sarcoma of the liver ORPHA:178315
- Rare malignant epithelial tumor of liver and intrahepatic biliary tract ORPHA:424933
- Primary hepatic neuroendocrine carcinoma ORPHA:100085
- Carcinoma of liver and intrahepatic biliary tract ORPHA:424936
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Cholangiocarcinoma ORPHA:70567
- Hepatocellular carcinoma ORPHA:88673
- Fibrolamellar hepatocellular carcinoma ORPHA:401920
- Adenocarcinoma of the liver and intrahepatic biliary tract ORPHA:424943
- Undifferentiated carcinoma of liver and intrahepatic biliary tract ORPHA:424970
- Squamous cell carcinoma of liver and intrahepatic biliary tract ORPHA:424975
- Biliary cystadenocarcinoma ORPHA:424982
- Solitary necrotic nodule of the liver ORPHA:100035
- Liver adenomatosis ORPHA:566841
- Rare tumor of intestine ORPHA:104011
- Rare tumor of small intestine ORPHA:423793
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Mesenchymal tumor of small intestine ORPHA:423798
- Rare epithelial tumor of small intestine ORPHA:425368
- Epithelial tumor of the appendix ORPHA:423982
- Neuroendocrine neoplasm of appendix ORPHA:100079
- Mucinous adenocarcinoma of the appendix ORPHA:391723
- Rare epithelial tumor of colon ORPHA:423991
- Rare epithelial tumor of rectum ORPHA:423998
- Epithelial tumor of anal canal ORPHA:424010
- Rare gastroesophageal tumor ORPHA:180821
- Rare epithelial tumor of stomach ORPHA:63443
- Neuroendocrine tumor of stomach ORPHA:100075
- Rare carcinoma of stomach ORPHA:423771
- Gastric linitis plastica ORPHA:36273
- Epstein-Barr virus-associated gastric carcinoma ORPHA:313920
- Squamous cell carcinoma of the stomach ORPHA:418959
- Hereditary gastric cancer ORPHA:423776
- Hereditary diffuse gastric cancer ORPHA:26106
- Gastric adenocarcinoma and proximal polyposis of the stomach ORPHA:314022
- Undifferentiated carcinoma of stomach ORPHA:423786
- Familial gastric type 1 neuroendocrine tumor ORPHA:464756
- Carcinoma of esophagus ORPHA:70482
- Adenocarcinoma of the oesophagus and oesophagogastric junction ORPHA:99976
- Squamous cell carcinoma of the esophagus ORPHA:99977
- Carcinoma of esophagus, salivary gland type ORPHA:418945
- Undifferentiated carcinoma of esophagus ORPHA:418951
- Neuroendocrine neoplasm of esophagus ORPHA:506136
- Rare tumor of pancreas ORPHA:180824
- Rare epithelial tumor of pancreas ORPHA:424033
- Pancreatoblastoma ORPHA:677
- Neuroendocrine neoplasm of pancreas ORPHA:506052
- Neuroendocrine tumor of pancreas ORPHA:97253
- Functioning neuroendocrine tumor of pancreas ORPHA:506060
- Zollinger-Ellison syndrome ORPHA:913
- GRFoma ORPHA:97261
- PPoma ORPHA:97278
- Insulinoma ORPHA:97279
- Glucagonoma ORPHA:97280
- VIPoma ORPHA:97282
- Somatostatinoma ORPHA:97283
- Cushing syndrome due to ectopic ACTH secretion ORPHA:99889
- Serotonin-producing neuroendocrine tumor of pancreas ORPHA:506090
- Non-functioning neuroendocrine tumor of pancreas ORPHA:506075
- Neuroendocrine carcinoma of pancreas ORPHA:506098
- Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas ORPHA:506112
- Rare carcinoma of pancreas ORPHA:217074
- Familial pancreatic carcinoma ORPHA:1333
- Squamous cell carcinoma of pancreas ORPHA:424039
- Acinar cell carcinoma of pancreas ORPHA:424046
- Mucinous cystadenocarcinoma of the pancreas ORPHA:424053
- Intraductal papillary mucinous carcinoma of pancreas ORPHA:424058
- Pancreatic solid pseudopapillary neoplasm ORPHA:424065
- Serous cystadenocarcinoma of pancreas ORPHA:424073
- Undifferentiated carcinoma with osteoclast-like giant cells of pancreas ORPHA:424080
- Adenoma of pancreas ORPHA:93292
- Intraductal tubulopapillary neoplasm of pancreas ORPHA:580572
- GCGR-related hyperglucagonemia ORPHA:438274
- Rare tumor of salivary glands ORPHA:276142
- Malignant epithelial tumor of salivary glands ORPHA:276145
- Benign epithelial tumor of salivary glands ORPHA:276148
- Carcinoma of the ampulla of Vater ORPHA:300557
- Rare respiratory tumor ORPHA:98060
- Nasopharyngeal carcinoma ORPHA:150
- Rare bronchopulmonary and pleural cavity tumors ORPHA:101945
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ORPHA:617916
- Primary pulmonary lymphoma ORPHA:2420
- Pleural mesothelioma ORPHA:50251
- Diffused pleural mesothelioma ORPHA:675837
- Localized pleural mesothelioma ORPHA:675833
- Pleural mesothelioma in situ ORPHA:675841
- Pulmonary blastoma ORPHA:64741
- Pleuropulmonary blastoma ORPHA:64742
- Pleuropulmonary blastoma type 1 ORPHA:99933
- Pleuropulmonary blastoma type 2 ORPHA:99934
- Pleuropulmonary blastoma type 3 ORPHA:99935
- DICER1 tumor-predisposition syndrome ORPHA:284343
- Fetal lung interstitial tumor ORPHA:284362
- Small cell lung cancer ORPHA:70573
- Bronchial neuroendocrine tumor ORPHA:97287
- Well-differentiated fetal adenocarcinoma of the lung ORPHA:284395
- Well-differentiated papillary mesothelial tumour of the pleura ORPHA:675822
- Adenomatoid tumour of the pleura ORPHA:675814
- SMARCA4-deficient sarcoma of thorax ORPHA:466962
- Rare nervous system tumor ORPHA:98062
- Primary central nervous system lymphoma ORPHA:46135
- Craniopharyngioma ORPHA:54595
- Rare tumor of neuroepithelial tissue ORPHA:251558
- Glial tumor ORPHA:182067
- Ependymal tumor ORPHA:301
- Anaplastic ependymoma ORPHA:251646
- Ependymoma ORPHA:251636
- RELA fusion-positive ependymoma ORPHA:530792
- Subependymoma ORPHA:251639
- Myxopapillary ependymoma ORPHA:251643
- Astrocytoma ORPHA:94
- High-grade astrocytoma ORPHA:251561
- Diffuse intrinsic pontine glioma ORPHA:497188
- Glioblastoma ORPHA:360
- Gliomatosis cerebri ORPHA:251582
- Anaplastic astrocytoma ORPHA:251589
- Low-grade astrocytoma ORPHA:251592
- Diffuse astrocytoma ORPHA:251595
- Protoplasmic astrocytoma ORPHA:251598
- Fibrillary astrocytoma ORPHA:251601
- Gemistocytic astrocytoma ORPHA:251604
- Pleomorphic xanthoastrocytoma ORPHA:251607
- Pilocytic astrocytoma ORPHA:251612
- Pilocytic astrocytoma with histological features of anaplasia ORPHA:673585
- Classic pilocytic astrocytoma ORPHA:673580
- Pilomyxoid astrocytoma ORPHA:251615
- Subependymal giant cell astrocytoma ORPHA:251618
- Pituicytoma ORPHA:251623
- Oligodendroglial tumor ORPHA:46484
- Oligoastrocytic tumor ORPHA:251651
- Glial tumor of neuroepithelial tissue with unknown origin ORPHA:251668
- Embryonal tumor of neuroepithelial tissue ORPHA:251852
- Medulloblastoma ORPHA:616
- Anaplastic/large cell medulloblastoma ORPHA:251855
- Medulloblastoma with extensive nodularity ORPHA:251858
- Desmoplastic/nodular medulloblastoma ORPHA:251863
- Classic medulloblastoma ORPHA:251867
- Atypical teratoid rhabdoid tumor ORPHA:99966
- Central nervous system embryonal tumor ORPHA:251870
- Choroid plexus tumor ORPHA:251896
- Papilloma of choroid plexus ORPHA:2807
- Choroid plexus carcinoma ORPHA:251899
- Atypical papilloma of choroid plexus ORPHA:251902
- Pineal tumor of neuroepithelial tissue ORPHA:251905
- Pineoblastoma ORPHA:251909
- Pineocytoma ORPHA:251912
- Papillary tumor of the pineal region ORPHA:251915
- Pineal parenchymal tumor of intermediate differentiation ORPHA:251919
- Neuronal tumor ORPHA:251924
- Central neurocytoma ORPHA:73256
- Extraventricular neurocytoma ORPHA:251927
- Cerebellar liponeurocytoma ORPHA:251931
- Mixed neuronal-glial tumor ORPHA:251934
- Lhermitte-Duclos disease ORPHA:65285
- Gangliocytoma ORPHA:251937
- Desmoplastic infantile astrocytoma/ganglioglioma ORPHA:251940
- Dysembryoplastic neuroepithelial tumor ORPHA:251946
- Ganglioglioma ORPHA:251949
- Anaplastic ganglioglioma ORPHA:251957
- Papillary glioneuronal tumor ORPHA:251962
- Rosette-forming glioneuronal tumor ORPHA:251975
- Ganglioneuroma ORPHA:251992
- Primary germ cell tumor of central nervous system ORPHA:251995
- Embryonal carcinoma of the central nervous system ORPHA:48736
- Germinoma of the central nervous system ORPHA:91352
- Yolk sac tumor of central nervous system ORPHA:252006
- Choriocarcinoma of the central nervous system ORPHA:252015
- Teratoma of the central nervous system ORPHA:252018
- Mixed germ cell tumor of central nervous system ORPHA:252021
- Tumor of meninges ORPHA:252025
- Meningioma ORPHA:2495
- Primary melanocytic tumor of central nervous system ORPHA:252028
- Diffuse leptomeningeal melanocytosis ORPHA:252031
- Meningeal melanocytoma ORPHA:252046
- Primary melanoma of the central nervous system ORPHA:252050
- Familial multiple meningioma ORPHA:263662
- Hemangioblastoma ORPHA:252054
- Tumor of cranial and spinal nerves ORPHA:252057
- Optic pathway glioma ORPHA:2086
- Malignant peripheral nerve sheath tumor ORPHA:3148
- Malignant triton tumor ORPHA:252212
- Malignant peripheral nerve sheath tumor with perineurial differentiation ORPHA:252128
- Perineurioma ORPHA:85102
- Benign peripheral nerve sheath tumor ORPHA:252131
- Primary oculocerebral lymphoma ORPHA:279897
- Rare gynecological tumor ORPHA:98063
- Rare vulvovaginal tumor ORPHA:180312
- Vulvar intraepithelial neoplasia ORPHA:137583
- Vaginal carcinoma ORPHA:180247
- Malignant germ cell tumor of the vagina ORPHA:206489
- Vulvovaginal rhabdomyosarcoma ORPHA:206492
- Vulvar carcinoma ORPHA:494418
- Rare uterine cancer ORPHA:213564
- Rare cancer of corpus uteri ORPHA:213569
- Malignant mixed epithelial and mesenchymal tumor of corpus uteri ORPHA:213589
- Adenosarcoma of the corpus uteri ORPHA:213600
- Carcinofibroma of the corpus uteri ORPHA:213605
- Carcinosarcoma of the corpus uteri ORPHA:213610
- Sarcoma of the corpus uteri ORPHA:213620
- Rhabdomyosarcoma of the corpus uteri ORPHA:213615
- Leiomyosarcoma of the corpus uteri ORPHA:213625
- Primitive neuroectodermal tumor of the corpus uteri ORPHA:213630
- Endometrial stromal sarcoma ORPHA:213711
- Squamous cell carcinoma of the corpus uteri ORPHA:213716
- Undifferentiated carcinoma of the corpus uteri ORPHA:213721
- Serous carcinoma of the corpus uteri ORPHA:213726
- High-grade neuroendocrine carcinoma of the corpus uteri ORPHA:213731
- Low-grade neuroendocrine tumor of the corpus uteri ORPHA:213736
- Transitional cell carcinoma of the corpus uteri ORPHA:213746
- Malignant germ cell tumor of the corpus uteri ORPHA:213751
- Rare cancer of cervix uteri ORPHA:213761
- Squamous cell carcinoma of the cervix uteri ORPHA:213767
- Adenocarcinoma of the cervix uteri ORPHA:213772
- High-grade neuroendocrine carcinoma of the cervix uteri ORPHA:213777
- Malignant mixed epithelial and mesenchymal tumor of cervix uteri ORPHA:213782
- Sarcoma of cervix uteri ORPHA:213797
- Rhabdomyosarcoma of the cervix uteri ORPHA:213802
- Leiomyosarcoma of the cervix uteri ORPHA:213807
- Primitive neuroectodermal tumor of the cervix uteri ORPHA:213812
- Adenoid cystic carcinoma of the cervix uteri ORPHA:213823
- Adenoid basal carcinoma of the cervix uteri ORPHA:213828
- Glassy cell carcinoma of the cervix uteri ORPHA:213833
- Malignant germ cell tumor of the cervix uteri ORPHA:213837
- Gestational trophoblastic disease ORPHA:254685
- Gestational trophoblastic neoplasm ORPHA:59305
- Invasive mole ORPHA:99925
- Gestational choriocarcinoma ORPHA:99926
- Placental site trophoblastic tumor ORPHA:99928
- Epithelioid trophoblastic tumor ORPHA:254698
- Hydatidiform mole ORPHA:99927
- Extramammary Paget disease ORPHA:2800
- Rare uterine adnexal tumor ORPHA:180220
- Rare benign ovarian tumor ORPHA:97293
- Microcystic stromal tumor ORPHA:569248
- Cystadenoma of childhood ORPHA:206470
- Seromucinous cystadenoma of childhood ORPHA:563676
- Mucinous cystadenoma of childhood ORPHA:563671
- Serous cystadenoma of childhood ORPHA:563666
- Meigs syndrome ORPHA:314451
- Pseudo-Meigs syndrome ORPHA:314459
- Atypical Meigs syndrome ORPHA:314466
- Ovarian fibroma ORPHA:314473
- Ovarian fibrothecoma ORPHA:314478
- Benign tumor of fallopian tubes ORPHA:180237
- Malignant tumor of fallopian tubes ORPHA:180242
- Rare ovarian cancer ORPHA:213500
- Malignant epithelial tumor of ovary ORPHA:398934
- Adenocarcinoma of ovary ORPHA:213504
- Malignant mixed Müllerian tumor of the ovary ORPHA:213512
- Mucinous adenocarcinoma of ovary ORPHA:398961
- Clear cell adenocarcinoma of the ovary ORPHA:398971
- Endometrioid carcinoma of ovary ORPHA:454723
- Malignant non-epithelial tumor of ovary ORPHA:398940
- Small cell carcinoma of the ovary ORPHA:370396
- Malignant germ cell tumor of ovary ORPHA:35807
- Ovarian dysgerminoma ORPHA:99912
- Malignant non-dysgerminomatous germ cell tumor of ovary ORPHA:206538
- Primary non-gestational choriocarcinoma of ovary ORPHA:289356
- Malignant sex cord stromal tumor of ovary ORPHA:35808
- Gynandroblastoma ORPHA:99914
- Malignant granulosa cell tumor of the ovary ORPHA:99915
- Malignant Sertoli-Leydig cell tumor of the ovary ORPHA:99916
- Theca steroid-producing cell malignant tumor of ovary, not further specified ORPHA:99917
- Gonadoblastoma ORPHA:206484
- Malignant teratoma of ovary ORPHA:398987
- Rare breast tumor ORPHA:180250
- Rare benign breast tumor ORPHA:180253
- Rare malignant breast tumor ORPHA:180257
- Hereditary breast and/or ovarian cancer syndrome ORPHA:145
- Paget disease of the nipple ORPHA:180275
- Rare adenocarcinoma of the breast ORPHA:213528
- Metaplastic carcinoma of the breast ORPHA:213531
- Salivary gland type cancer of the breast ORPHA:213557
- Hereditary breast cancer ORPHA:227535
- Phyllodes tumor of the breast ORPHA:180261
- Thymic tumor ORPHA:100100
- Thymic epithelial neoplasm ORPHA:3398
- Thymic neuroendocrine tumor ORPHA:97289
- Rare eye tumor ORPHA:101950
- Eyelid sebaceous carcinoma ORPHA:658590
- Ocular surface squamous neoplasia ORPHA:659744
- Conjunctival malignant melanoma ORPHA:617910
- Choroidal osteoma ORPHA:674965
- Bilateral diffuse uveal melanocytic proliferation disease ORPHA:674968
- Retinoblastoma ORPHA:790
- Uveal melanoma ORPHA:39044
- Orbital leiomyoma ORPHA:52994
- Ring dermoid of cornea ORPHA:91481
- Intraocular medulloepithelioma ORPHA:268139
- Primary oculocerebral lymphoma ORPHA:279897
- Primary intraocular lymphoma ORPHA:279904
- Combined hamartoma of the retina and retinal pigment epithelium ORPHA:440727
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Vasoproliferative tumor of the retina ORPHA:353356
- Rare cardiac tumor ORPHA:168194
- Carney complex ORPHA:1359
- Familial atrial myxoma ORPHA:615
- Primary adult heart tumor ORPHA:874
- Primary pediatric heart tumor ORPHA:875
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Primary pericardial mesothelioma ORPHA:685004
- Primary peritoneal tumor ORPHA:168803
- Primary benign peritoneal tumor ORPHA:676030
- Disseminated peritoneal leiomyomatosis ORPHA:71274
- Well-differentiated papillary mesothelial tumour of the peritoneum ORPHA:676033
- Adenomatoid tumour of the peritoneum ORPHA:675976
- Peritoneal inclusion cyst ORPHA:168816
- Primary malignant peritoneal tumor ORPHA:168807
- Rare urogenital tumor ORPHA:182114
- Rare urinary tract tumor ORPHA:98058
- Upper tract urothelial carcinoma ORPHA:598216
- Phyllodes tumor of the prostate ORPHA:498228
- Familial prostate cancer ORPHA:1331
- Non-papillary transitional cell carcinoma of the bladder ORPHA:209989
- Small cell carcinoma of the bladder ORPHA:284400
- Tumor of testis and paratestis ORPHA:363472
- Paratesticular adenocarcinoma ORPHA:363478
- Testicular teratoma ORPHA:363483
- Sex cord-stromal tumor of testis ORPHA:363489
- Germ cell tumor of testis ORPHA:363504
- Testicular seminomatous germ cell tumor ORPHA:842
- Spermatocytic seminoma ORPHA:99865
- Non-seminomatous germ cell tumor of testis ORPHA:363494
- Mesothelioma of the tunica vaginalis ORPHA:685010
- Gonadoblastoma ORPHA:206484
- Malignant tumor of penis ORPHA:398043
- Tumor of endocrine glands ORPHA:182130
- Neuroendocrine neoplasm ORPHA:877
- Carcinoid syndrome ORPHA:100093
- Gastroenteropancreatic neuroendocrine neoplasm ORPHA:100092
- Neuroendocrine neoplasm of pancreas ORPHA:506052
- Neuroendocrine tumor of pancreas ORPHA:97253
- Functioning neuroendocrine tumor of pancreas ORPHA:506060
- Zollinger-Ellison syndrome ORPHA:913
- GRFoma ORPHA:97261
- PPoma ORPHA:97278
- Insulinoma ORPHA:97279
- Glucagonoma ORPHA:97280
- VIPoma ORPHA:97282
- Somatostatinoma ORPHA:97283
- Cushing syndrome due to ectopic ACTH secretion ORPHA:99889
- Serotonin-producing neuroendocrine tumor of pancreas ORPHA:506090
- Non-functioning neuroendocrine tumor of pancreas ORPHA:506075
- Neuroendocrine carcinoma of pancreas ORPHA:506098
- Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas ORPHA:506112
- Gastroenteric neuroendocrine neoplasm ORPHA:481508
- Neuroendocrine tumor of stomach ORPHA:100075
- Neuroendocrine neoplasm of appendix ORPHA:100079
- Neuroendocrine tumor of the colon ORPHA:100080
- Neuroendocrine tumor of the rectum ORPHA:100081
- Neuroendocrine tumor of anal canal ORPHA:100082
- Neuroendocrine tumor of the small intestine ORPHA:423975
- Duodenal neuroendocrine tumor ORPHA:100076
- Jejunal neuroendocrine tumor ORPHA:100077
- Ileal neuroendocrine tumor ORPHA:100078
- Neuroendocrine neoplasm of esophagus ORPHA:506136
- Neuroendocrine tumor with other location ORPHA:100101
- Cutaneous neuroendocrine carcinoma ORPHA:79140
- Bronchial neuroendocrine tumor ORPHA:97287
- Laryngeal neuroendocrine tumor ORPHA:100083
- Middle ear neuroendocrine tumor ORPHA:100084
- Primary hepatic neuroendocrine carcinoma ORPHA:100085
- Gallbladder neuroendocrine tumor ORPHA:100086
- High-grade neuroendocrine carcinoma of the corpus uteri ORPHA:213731
- Thymic neuroendocrine tumor ORPHA:97289
- High-grade neuroendocrine carcinoma of the cervix uteri ORPHA:213777
- Thymic neuroendocrine carcinoma ORPHA:99869
- Well-differentiated thymic neuroendocrine carcinoma ORPHA:263331
- Moderately-differentiated thymic neuroendocrine carcinoma ORPHA:263335
- Poorly differentiated thymic neuroendocrine carcinoma ORPHA:263339
- Small cell carcinoma of the bladder ORPHA:284400
- Chordoma ORPHA:178
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Rare thyroid tumor ORPHA:100087
- Thyroid lymphoma ORPHA:97285
- Rare thyroid carcinoma ORPHA:100088
- Rare parathyroid tumor ORPHA:100090
- Familial primary hyperparathyroidism ORPHA:2207
- Multiple endocrine neoplasia type 1 ORPHA:652
- Familial isolated hyperparathyroidism ORPHA:99879
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Parathyroid carcinoma ORPHA:143
- Adrenal/paraganglial tumor ORPHA:100091
- Adrenocortical carcinoma ORPHA:1501
- Familial hyperaldosteronism type II ORPHA:404
- Pituitary dermoid and epidermoid cysts ORPHA:91351
- Rare adrenocortical nodular disease ORPHA:649017
- Isolated primary pigmented nodular adrenocortical disease ORPHA:647772
- Isolated micronodular adrenocortical disease ORPHA:647782
- Multiple endocrine neoplasia type 1 ORPHA:652
- Pheochromocytoma-paraganglioma ORPHA:573163
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Hereditary pheochromocytoma-paraganglioma ORPHA:29072
- Sporadic pheochromocytoma/secreting paraganglioma ORPHA:276621
- Non-functioning paraganglioma ORPHA:94080
- Carney complex ORPHA:1359
- Von Hippel-Lindau disease ORPHA:892
- Multiple endocrine neoplasia type 2A ORPHA:247698
- Multiple endocrine neoplasia type 2B ORPHA:247709
- Multiple polyglandular tumor ORPHA:100094
- Von Hippel-Lindau disease ORPHA:892
- Carney complex ORPHA:1359
- Carney-Stratakis syndrome ORPHA:97286
- Carney triad ORPHA:139411
- Multiple endocrine neoplasia ORPHA:276161
- Pituitary tumor ORPHA:304055
- Pituitary adenoma ORPHA:99408
- Non-functioning pituitary adenoma ORPHA:91349
- Functioning pituitary adenoma ORPHA:314753
- Prolactinoma ORPHA:2965
- TSH-secreting pituitary adenoma ORPHA:91347
- Functioning gonadotropic adenoma ORPHA:91348
- Cushing disease ORPHA:96253
- Somatotropic adenoma ORPHA:96256
- Nelson syndrome ORPHA:199244
- Mixed functioning pituitary adenoma ORPHA:314759
- Familial isolated pituitary adenoma ORPHA:314777
- Pituitary carcinoma ORPHA:300385
- Rare vascular tumor ORPHA:211237
- Malignant vascular tumor ORPHA:673466
- Benign vascular tumor ORPHA:673470
- Hereditary neurocutaneous malformation ORPHA:1062
- Tufted angioma ORPHA:1063
- Retinal capillary malformation ORPHA:71213
- Spindle cell hemangioma ORPHA:210584
- Congenital hemangioma ORPHA:458775
- Non-involuting congenital hemangioma ORPHA:141179
- Partially involuting congenital hemangioma ORPHA:458785
- Rapidly involuting congenital hemangioma ORPHA:141184
- Anastomosing haemangioma ORPHA:675359
- Acquired elastotic haemangioma ORPHA:675597
- Hobnail hemangioma ORPHA:675362
- Microvenular haemangioma ORPHA:675369
- Epithelioid hemangioma ORPHA:675396
- Papillary hemangioma ORPHA:673543
- Reactive angioendotheliomatosis ORPHA:673574
- Eccrine angiomatous hamartoma ORPHA:673568
- Littoral cell hemangioma of the spleen ORPHA:673538
- Intravascular papillary endothelial hyperplasia ORPHA:673525
- Rare infantile hemangioma ORPHA:210589
- Borderline vascular tumor ORPHA:673473
- Rare virus associated tumor ORPHA:289635
- Cutaneous neuroendocrine carcinoma ORPHA:79140
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Human herpesvirus 8-related disorder ORPHA:102024
- HHV-8-associated multicentric Castleman disease ORPHA:570438
- Kaposi sarcoma ORPHA:33276
- Primary effusion lymphoma ORPHA:48686
- Epstein-Barr Virus-related tumor ORPHA:289638
- Epstein-Barr virus-associated malignant lymphoproliferative disorder ORPHA:289644
- Burkitt lymphoma ORPHA:543
- Primary central nervous system lymphoma ORPHA:46135
- Primary effusion lymphoma ORPHA:48686
- Post-transplant lymphoproliferative disease ORPHA:70568
- Lymphomatoid granulomatosis ORPHA:86869
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Hodgkin lymphoma ORPHA:98293
- Classic Hodgkin lymphoma ORPHA:391
- Classic Hodgkin lymphoma, nodular sclerosis type ORPHA:98843
- Classic Hodgkin lymphoma, mixed cellularity type ORPHA:98844
- Classic Hodgkin lymphoma, lymphocyte-rich type ORPHA:98845
- Classic Hodgkin lymphoma, lymphocyte-depleted type ORPHA:98846
- Nodular lymphocyte predominant Hodgkin lymphoma ORPHA:86893
- Epstein-Barr virus-positive diffuse large B-cell lymphoma ORPHA:289661
- Plasmablastic lymphoma ORPHA:289666
- Diffuse large B-cell lymphoma with chronic inflammation ORPHA:300888
- Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood ORPHA:364033
- Hydroa vacciniforme-like lymphoma ORPHA:364039
- Epstein-Barr Virus-associated carcinoma ORPHA:289651
- Nasopharyngeal carcinoma ORPHA:150
- Lymphoepithelial-like carcinoma ORPHA:289682
- Epstein-Barr virus-associated gastric carcinoma ORPHA:313920
- Epstein-Barr Virus-associated mesenchymal tumor ORPHA:289656
- HIV-associated cancer ORPHA:443291
- Rare head and neck tumor ORPHA:290849
- Rare tumor of salivary glands ORPHA:276142
- Malignant epithelial tumor of salivary glands ORPHA:276145
- Benign epithelial tumor of salivary glands ORPHA:276148
- Rare odontogenic tumor ORPHA:314425
- Ameloblastoma ORPHA:314419
- Ameloblastic carcinoma ORPHA:314422
- Keratocystic odontogenic tumor ORPHA:447777
- Adenoid ameloblastoma ORPHA:689430
- Rare otorhinolaryngologic tumor ORPHA:98061
- Intraoral basal cell carcinoma ORPHA:667678
- Squamous cell carcinoma of the nasal cavity and paranasal sinuses ORPHA:500464
- Squamous cell carcinoma of the oropharynx ORPHA:500478
- Squamous cell carcinoma of oral cavity and lip ORPHA:502369
- Squamous cell carcinoma of the lip ORPHA:502366
- Squamous cell carcinoma of the oral cavity ORPHA:502363
- Nasopharyngeal carcinoma ORPHA:150
- Laryngeal neuroendocrine tumor ORPHA:100083
- Middle ear neuroendocrine tumor ORPHA:100084
- Epignathus ORPHA:141077
- Nasopharyngeal teratoma ORPHA:141107
- Nasal glial heterotopia ORPHA:141112
- Nasal ganglioglioma ORPHA:141115
- Juvenile nasopharyngeal angiofibroma ORPHA:289596
- Squamous cell carcinoma of the hypopharynx ORPHA:494547
- Squamous cell carcinoma of the larynx ORPHA:494550
- Vestibular schwannoma ORPHA:252175
- NUT midline carcinoma ORPHA:443167
- Rare andrological tumor ORPHA:626609
- Hereditary breast cancer ORPHA:227535
- Tumor of testis and paratestis ORPHA:363472
- Paratesticular adenocarcinoma ORPHA:363478
- Testicular teratoma ORPHA:363483
- Sex cord-stromal tumor of testis ORPHA:363489
- Germ cell tumor of testis ORPHA:363504
- Testicular seminomatous germ cell tumor ORPHA:842
- Spermatocytic seminoma ORPHA:99865
- Non-seminomatous germ cell tumor of testis ORPHA:363494
- Mesothelioma of the tunica vaginalis ORPHA:685010
- Gonadoblastoma ORPHA:206484
- Malignant tumor of penis ORPHA:398043
- Cancer of unknown primary site ORPHA:631251
- Inherited cancer-predisposing syndrome ORPHA:140162
- Melanoma and neural system tumor syndrome ORPHA:252206
- Rhabdoid tumor predisposition syndrome ORPHA:231108
- Gorlin syndrome ORPHA:377
- Blue rubber bleb nevus ORPHA:1059
- Dyskeratosis congenita ORPHA:1775
- Ollier disease ORPHA:296
- Inherited epidermodysplasia verruciformis ORPHA:302
- Common variable immunodeficiency ORPHA:1572
- Kostmann syndrome ORPHA:99749
- Maffucci syndrome ORPHA:163634
- Polymalformative genetic syndrome with increased risk of developing cancer ORPHA:183422
- Ataxia-telangiectasia ORPHA:100
- Wiskott-Aldrich syndrome ORPHA:906
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- Peutz-Jeghers syndrome ORPHA:2869
- Saethre-Chotzen syndrome ORPHA:794
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Aicardi syndrome ORPHA:50
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- McCune-Albright syndrome ORPHA:562
- Diamond-Blackfan anemia ORPHA:124
- Bloom syndrome ORPHA:125
- Costello syndrome ORPHA:3071
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Sotos syndrome ORPHA:821
- Fanconi anemia ORPHA:84
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Tuberous sclerosis complex ORPHA:805
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Werner syndrome ORPHA:902
- Noonan syndrome with multiple lentigines ORPHA:500
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Isolated hemihyperplasia ORPHA:2128
- Schinzel-Giedion syndrome ORPHA:798
- Nijmegen breakage syndrome ORPHA:647
- Xeroderma pigmentosum ORPHA:910
- Perlman syndrome ORPHA:2849
- Tyrosinemia type 1 ORPHA:882
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Shwachman-Diamond syndrome ORPHA:811
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- LIG4 syndrome ORPHA:99812
- Bazex syndrome ORPHA:166113
- Cernunnos-XLF deficiency ORPHA:169079
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Rothmund-Thomson syndrome type 2 ORPHA:221016
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Warsaw breakage syndrome ORPHA:280558
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- N syndrome ORPHA:2608
- Xeroderma pigmentosum variant ORPHA:90342
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Familial multinodular goiter ORPHA:276399
- BAP1-related tumor predisposition syndrome ORPHA:289539
- MITF-related melanoma and renal cell carcinoma predisposition syndrome ORPHA:293822
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome ORPHA:313846
- Inherited renal cancer-predisposing syndrome ORPHA:319328
- Hereditary papillary renal cell carcinoma ORPHA:47044
- Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations ORPHA:319462
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Hereditary clear cell renal cell carcinoma ORPHA:422526
- Von Hippel-Lindau disease ORPHA:892
- WAGR syndrome ORPHA:893
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Tuberous sclerosis complex ORPHA:805
- Perlman syndrome ORPHA:2849
- Birt-Hogg-Dubé syndrome ORPHA:122
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Hereditary retinoblastoma ORPHA:357027
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Inherited digestive cancer-predisposing syndrome ORPHA:425003
- Familial medullary thyroid carcinoma ORPHA:99361
- Multiple endocrine neoplasia type 1 ORPHA:652
- Multiple endocrine neoplasia type 2 ORPHA:653
- Intestinal polyposis syndrome ORPHA:104010
- Familial adenomatous polyposis ORPHA:733
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Peutz-Jeghers syndrome ORPHA:2869
- Cowden syndrome ORPHA:201
- Juvenile polyposis syndrome ORPHA:2929
- Juvenile polyposis of infancy ORPHA:79076
- Generalized juvenile polyposis/juvenile polyposis coli ORPHA:329971
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Cronkhite-Canada syndrome ORPHA:2930
- Hereditary mixed polyposis syndrome ORPHA:157794
- Serrated polyposis syndrome ORPHA:157798
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- AXIN2-related attenuated familial adenomatous polyposis ORPHA:401911
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Hereditary neuroendocrine tumor of small intestine ORPHA:456333
- Combined immunodeficiency due to OX40 deficiency ORPHA:431149
- Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953
- DICER1 tumor-predisposition syndrome ORPHA:284343
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- MBD4-related tumor predisposition syndrome ORPHA:661526
- Inherited cancer-predisposing lymphoproliferative syndrome ORPHA:664450
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- X-linked lymphoproliferative disease due to SAP deficiency ORPHA:538931
- Familial hemophagocytic lymphohistiocytosis ORPHA:540
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- FADD-related immunodeficiency ORPHA:306550
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Combined immunodeficiency due to CD27 deficiency ORPHA:238505
- Dianzani autoimmune lymphoproliferative disease ORPHA:275523
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- EBV-induced lymphoproliferative disease due to PRKCD deficiency ORPHA:664711
- EBV-induced lymphoproliferative disease due to RASGRP1 deficiency ORPHA:664699
- EBV-induced lymphoproliferative disease due to CD137 deficiency ORPHA:664726
- EBV-induced lymphoproliferative disease due to TET2 deficiency ORPHA:664729
- Severe combined immunodeficiency due to CTPS1 deficiency ORPHA:420573
- XMEN ORPHA:317476
- Neurofibromatosis/schwannomatosis ORPHA:634518
- Full schwannomatosis ORPHA:93921
- Full NF2-related schwannomatosis ORPHA:637
- Mosaic neurofibromatosis type 1 ORPHA:634461
- Mosaic NF2-related schwannomatosis ORPHA:634475
- Mosaic schwannomatosis ORPHA:634492
- Neurofibromatosis type 1 ORPHA:636
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Inherited gynecological cancer-predisposing syndrome ORPHA:589746
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Peutz-Jeghers syndrome ORPHA:2869
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Cowden syndrome ORPHA:201
- Inherited hematologic cancer-predisposing syndrome ORPHA:619340
- Noonan syndrome ORPHA:648
- Noonan syndrome with multiple lentigines ORPHA:500
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Inherited acute myeloid leukemia ORPHA:319465
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality ORPHA:585877
- B-lymphoblastic leukemia/lymphoma with t(17;19) ORPHA:641375
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) ORPHA:585918
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) ORPHA:585929
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORPHA:585936
- B-lymphoblastic leukemia/lymphoma with hypodiploidy ORPHA:585942
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) ORPHA:585948
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ORPHA:585956
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) ORPHA:641372
- Li-Fraumeni syndrome ORPHA:524
- DDX41-related hematologic malignancy predisposition syndrome ORPHA:488647