Orphanet classification: Rare neoplastic disease (ORPHA:250908)
Disorder type: Category
Subcategories and diseases:
Name: Rare tumor
OrphaCode: 98057
DisorderType: Category
Children: Name: Germ cell tumor
OrphaCode: 3399
DisorderType: Category
Children: Name: Extragonadal germ cell tumor
OrphaCode: 363579
DisorderType: Category
Children: Name: Extragonadal non-dysgerminomatous germ cell tumor
OrphaCode: 99913
DisorderType: Category
Children: Name: Yolk sac tumor
OrphaCode: 876
DisorderType: Disease
Children: Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Extragonadal teratoma
OrphaCode: 883
DisorderType: Disease
Children: Name: Epignathus
OrphaCode: 141077
DisorderType: Clinical subtype
Name: Nasopharyngeal teratoma
OrphaCode: 141107
DisorderType: Clinical subtype
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Sacrococcygeal teratoma
OrphaCode: 494421
DisorderType: Clinical subtype
Name: Gestational choriocarcinoma
OrphaCode: 99926
DisorderType: Disease
Name: Embryonal carcinoma
OrphaCode: 180226
DisorderType: Disease
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Non-central nervous system-localized embryonal carcinoma
OrphaCode: 289362
DisorderType: Clinical subtype
Name: Polyembryoma
OrphaCode: 180229
DisorderType: Disease
Name: Mixed germ cell tumor
OrphaCode: 180234
DisorderType: Disease
Children: Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Growing teratoma syndrome
OrphaCode: 314613
DisorderType: Particular clinical situation in a disease or syndrome
Name: Extragonadal germinoma
OrphaCode: 182127
DisorderType: Disease
Children: Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Primary germ cell tumor of central nervous system
OrphaCode: 251995
DisorderType: Category
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Choriocarcinoma of the central nervous system
OrphaCode: 252015
DisorderType: Disease
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Gonadal germ cell tumor
OrphaCode: 363582
DisorderType: Category
Children: Name: Malignant germ cell tumor of ovary
OrphaCode: 35807
DisorderType: Category
Children: Name: Ovarian dysgerminoma
OrphaCode: 99912
DisorderType: Disease
Name: Malignant non-dysgerminomatous germ cell tumor of ovary
OrphaCode: 206538
DisorderType: Disease
Name: Primary non-gestational choriocarcinoma of ovary
OrphaCode: 289356
DisorderType: Disease
Name: Germ cell tumor of testis
OrphaCode: 363504
DisorderType: Category
Children: Name: Testicular seminomatous germ cell tumor
OrphaCode: 842
DisorderType: Disease
Name: Spermatocytic seminoma
OrphaCode: 99865
DisorderType: Disease
Name: Non-seminomatous germ cell tumor of testis
OrphaCode: 363494
DisorderType: Disease
Name: Tumor of hematopoietic and lymphoid tissues
OrphaCode: 68347
DisorderType: Category
Children: Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Mastocytosis
OrphaCode: 98292
DisorderType: Category
Children: Name: Systemic mastocytosis
OrphaCode: 2467
DisorderType: Clinical group
Children: Name: Indolent systemic mastocytosis
OrphaCode: 98848
DisorderType: Disease
Name: Systemic mastocytosis with associated hematologic neoplasm
OrphaCode: 98849
DisorderType: Disease
Name: Aggressive systemic mastocytosis
OrphaCode: 98850
DisorderType: Disease
Name: Mast cell leukemia
OrphaCode: 98851
DisorderType: Disease
Children: Name: Acute mast cell leukemia
OrphaCode: 566393
DisorderType: Clinical subtype
Name: Chronic mast cell leukemia
OrphaCode: 566396
DisorderType: Clinical subtype
Name: Smoldering systemic mastocytosis
OrphaCode: 158775
DisorderType: Disease
Name: Isolated bone marrow mastocytosis
OrphaCode: 158778
DisorderType: Disease
Name: Cutaneous mastocytosis
OrphaCode: 66646
DisorderType: Clinical group
Children: Name: Cutaneous mastocytoma
OrphaCode: 79455
DisorderType: Disease
Name: Diffuse cutaneous mastocytosis
OrphaCode: 79456
DisorderType: Disease
Children: Name: Bullous diffuse cutaneous mastocytosis
OrphaCode: 280785
DisorderType: Clinical subtype
Name: Pseudoxanthomatous diffuse cutaneous mastocytosis
OrphaCode: 280794
DisorderType: Clinical subtype
Name: Maculopapular cutaneous mastocytosis
OrphaCode: 79457
DisorderType: Disease
Children: Name: Telangiectasia macularis eruptiva perstans
OrphaCode: 90389
DisorderType: Clinical subtype
Name: Typical urticaria pigmentosa
OrphaCode: 158766
DisorderType: Clinical subtype
Name: Plaque-form urticaria pigmentosa
OrphaCode: 158769
DisorderType: Clinical subtype
Name: Nodular urticaria pigmentosa
OrphaCode: 158772
DisorderType: Clinical subtype
Name: Mast cell sarcoma
OrphaCode: 66661
DisorderType: Disease
Name: Extracutaneous mastocytoma
OrphaCode: 66662
DisorderType: Disease
Name: Myeloid hemopathy
OrphaCode: 171895
DisorderType: Category
Children: Name: Acute myeloid leukemia
OrphaCode: 519
DisorderType: Clinical group
Children: Name: Acute myeloid leukaemia with myelodysplasia-related features
OrphaCode: 86845
DisorderType: Disease
Name: Therapy related acute myeloid leukemia and myelodysplastic syndrome
OrphaCode: 86846
DisorderType: Category
Children: Name: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
OrphaCode: 102379
DisorderType: Disease
Name: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
OrphaCode: 102381
DisorderType: Disease
Name: Acute myeloid leukemia and myelodysplastic syndromes related to radiation
OrphaCode: 164726
DisorderType: Disease
Name: Acute leukemia of ambiguous lineage
OrphaCode: 86851
DisorderType: Category
Children: Name: Mixed phenotype acute leukemia
OrphaCode: 530995
DisorderType: Disease
Children: Name: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
OrphaCode: 589534
DisorderType: Etiological subtype
Name: Mixed phenotype acute leukemia with t(v;11q23.3)
OrphaCode: 589595
DisorderType: Etiological subtype
Name: Acute undifferentiated leukemia
OrphaCode: 98835
DisorderType: Disease
Name: Acute myeloid leukemia with recurrent genetic anomaly
OrphaCode: 98277
DisorderType: Category
Children: Name: Acute promyelocytic leukemia
OrphaCode: 520
DisorderType: Disease
Name: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
OrphaCode: 98829
DisorderType: Disease
Name: Acute myeloid leukemia with 11q23 abnormalities
OrphaCode: 98831
DisorderType: Disease
Name: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
OrphaCode: 102724
DisorderType: Disease
Name: Acute myeloid leukemia with CEBPA somatic mutations
OrphaCode: 319480
DisorderType: Disease
Name: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
OrphaCode: 370026
DisorderType: Disease
Name: Acute myeloid leukemia with t(6;9)(p23;q34)
OrphaCode: 402014
DisorderType: Disease
Name: Acute myeloid leukemia with t(9;11)(p22;q23)
OrphaCode: 402017
DisorderType: Disease
Name: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
OrphaCode: 402020
DisorderType: Disease
Name: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
OrphaCode: 402023
DisorderType: Disease
Name: Acute myeloid leukemia with NPM1 somatic mutations
OrphaCode: 402026
DisorderType: Disease
Name: Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
OrphaCode: 585867
DisorderType: Disease
Name: Unclassified acute myeloid leukemia
OrphaCode: 167714
DisorderType: Category
Children: Name: Acute monoblastic/monocytic leukemia
OrphaCode: 514
DisorderType: Disease
Name: Acute erythroid leukemia
OrphaCode: 318
DisorderType: Disease
Name: Acute megakaryoblastic leukemia
OrphaCode: 518
DisorderType: Disease
Children: Name: Acute megakaryoblastic leukemia in children with Down syndrome
OrphaCode: 99887
DisorderType: Clinical subtype
Name: Acute megakaryoblastic leukemia in children without Down syndrome
OrphaCode: 329469
DisorderType: Clinical subtype
Name: Acute megakaryoblastic leukemia in adult
OrphaCode: 662934
DisorderType: Clinical subtype
Name: Acute panmyelosis with myelofibrosis
OrphaCode: 86843
DisorderType: Disease
Name: Acute basophilic leukemia
OrphaCode: 86849
DisorderType: Disease
Name: Myeloid sarcoma
OrphaCode: 86850
DisorderType: Disease
Name: Acute myeloid leukemia with minimal differentiation
OrphaCode: 98832
DisorderType: Disease
Name: Acute myeloblastic leukemia without maturation
OrphaCode: 98833
DisorderType: Disease
Name: Acute myeloblastic leukemia with maturation
OrphaCode: 98834
DisorderType: Disease
Name: Acute myelomonocytic leukemia
OrphaCode: 517
DisorderType: Disease
Name: Inherited acute myeloid leukemia
OrphaCode: 319465
DisorderType: Disease
Name: Myelodysplastic syndrome
OrphaCode: 52688
DisorderType: Clinical group
Children: Name: Acquired idiopathic sideroblastic anemia
OrphaCode: 75564
DisorderType: Disease
Name: Refractory cytopenia with multilineage dysplasia
OrphaCode: 86836
DisorderType: Clinical group
Children: Name: Myelodysplastic neoplasm with low blasts
OrphaCode: 98826
DisorderType: Disease
Name: Unclassified myelodysplastic syndrome
OrphaCode: 98827
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Myelodysplastic neoplasm with increased blasts
OrphaCode: 86839
DisorderType: Disease
Children: Name: Myelodysplastic neoplasm with increased blasts type 1
OrphaCode: 100019
DisorderType: Clinical subtype
Name: Myelodysplastic neoplasm with increased blasts type 2
OrphaCode: 100020
DisorderType: Clinical subtype
Name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
OrphaCode: 86841
DisorderType: Disease
Name: Refractory anemia with excess blasts in transformation
OrphaCode: 168960
DisorderType: Disease
Name: Familial monosomy 7 syndrome
OrphaCode: 495930
DisorderType: Disease
Name: Myeloproliferative neoplasm
OrphaCode: 98274
DisorderType: Clinical group
Children: Name: 14q32 duplication syndrome
OrphaCode: 488280
DisorderType: Disease
Name: Essential thrombocythemia
OrphaCode: 3318
DisorderType: Disease
Name: Chronic myeloid leukemia
OrphaCode: 521
DisorderType: Disease
Name: Primary myelofibrosis
OrphaCode: 824
DisorderType: Disease
Name: Polycythemia vera
OrphaCode: 729
DisorderType: Disease
Name: Chronic neutrophilic leukemia
OrphaCode: 86829
DisorderType: Disease
Name: Chronic myeloproliferative disease, unclassifiable
OrphaCode: 86830
DisorderType: Disease
Name: Chronic eosinophilic leukemia
OrphaCode: 168940
DisorderType: Disease
Name: Hypereosinophilic syndrome
OrphaCode: 168956
DisorderType: Clinical group
Children: Name: Idiopathic hypereosinophilic syndrome
OrphaCode: 3260
DisorderType: Disease
Name: Primary hypereosinophilic syndrome
OrphaCode: 314950
DisorderType: Disease
Name: Secondary hypereosinophilic syndrome
OrphaCode: 314962
DisorderType: Disease
Children: Name: Lymphocytic hypereosinophilic syndrome
OrphaCode: 314970
DisorderType: Clinical subtype
Name: Transient myeloproliferative syndrome
OrphaCode: 420611
DisorderType: Disease
Name: Hereditary thrombocytopenia with early-onset myelofibrosis
OrphaCode: 480851
DisorderType: Disease
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Myelodysplastic/myeloproliferative disease
OrphaCode: 98275
DisorderType: Clinical group
Children: Name: Juvenile myelomonocytic leukemia
OrphaCode: 86834
DisorderType: Disease
Name: Chronic myelomonocytic leukemia
OrphaCode: 98823
DisorderType: Disease
Name: Atypical chronic myeloid leukemia
OrphaCode: 98824
DisorderType: Disease
Name: Unclassified myelodysplastic/myeloproliferative disease
OrphaCode: 98825
DisorderType: Disease
Name: Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
OrphaCode: 168943
DisorderType: Category
Children: Name: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
OrphaCode: 168947
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
OrphaCode: 168950
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
OrphaCode: 168953
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
OrphaCode: 589542
DisorderType: Disease
Name: Lymphoid hemopathy
OrphaCode: 171898
DisorderType: Category
Children: Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: Plasma cell tumor
OrphaCode: 98282
DisorderType: Category
Children: Name: POEMS syndrome
OrphaCode: 2905
DisorderType: Disease
Name: Multiple myeloma
OrphaCode: 29073
DisorderType: Disease
Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Children: Name: Primary systemic amyloidosis
OrphaCode: 314701
DisorderType: Clinical subtype
Name: Primary localized amyloidosis
OrphaCode: 314709
DisorderType: Clinical subtype
Name: Plasmacytoma
OrphaCode: 86855
DisorderType: Disease
Children: Name: Primary plasmacytoma of the bone
OrphaCode: 100021
DisorderType: Clinical subtype
Name: Extramedullary soft tissue plasmacytoma
OrphaCode: 100022
DisorderType: Clinical subtype
Name: Non-amyloid monoclonal immunoglobulin deposition disease
OrphaCode: 86861
DisorderType: Disease
Children: Name: Heavy chain deposition disease
OrphaCode: 93556
DisorderType: Clinical subtype
Name: Light and heavy chain deposition disease
OrphaCode: 93557
DisorderType: Clinical subtype
Name: Light chain deposition disease
OrphaCode: 93558
DisorderType: Clinical subtype
Name: Heavy chain disease
OrphaCode: 86864
DisorderType: Disease
Children: Name: Mu-heavy chain disease
OrphaCode: 100024
DisorderType: Clinical subtype
Name: Alpha-heavy chain disease
OrphaCode: 100025
DisorderType: Clinical subtype
Name: Gamma-heavy chain disease
OrphaCode: 100026
DisorderType: Clinical subtype
Name: Plasma cell leukemia
OrphaCode: 454714
DisorderType: Disease
Name: Histiocytic and dendritic cell tumor
OrphaCode: 98287
DisorderType: Category
Children: Name: Macrophage or histiocytic tumor
OrphaCode: 98288
DisorderType: Category
Children: Name: Histiocytic sarcoma
OrphaCode: 86896
DisorderType: Disease
Name: Dendritic cell tumor
OrphaCode: 98289
DisorderType: Category
Children: Name: Langerhans cell histiocytosis
OrphaCode: 389
DisorderType: Disease
Name: Langerhans cell sarcoma
OrphaCode: 86897
DisorderType: Disease
Name: Interdigitating dendritic cell sarcoma
OrphaCode: 86900
DisorderType: Disease
Name: Dendritic cell sarcoma not otherwise specified
OrphaCode: 86903
DisorderType: Disease
Name: Indeterminate cell histiocytosis
OrphaCode: 158019
DisorderType: Disease
Name: Immunodeficiency-associated lymphoproliferative disease
OrphaCode: 98290
DisorderType: Category
Children: Name: Post-transplant lymphoproliferative disease
OrphaCode: 70568
DisorderType: Disease
Name: Methotrexate-associated lymphoproliferative disorders
OrphaCode: 86904
DisorderType: Disease
Name: Lymphoproliferative disease associated with primary immune disease
OrphaCode: 98291
DisorderType: Category
Name: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
OrphaCode: 675628
DisorderType: Disease
Name: Lymphoma
OrphaCode: 223735
DisorderType: Category
Children: Name: Non-Hodgkin lymphoma
OrphaCode: 547
DisorderType: Category
Children: Name: Acute lymphoblastic leukemia
OrphaCode: 513
DisorderType: Clinical group
Children: Name: Precursor B-cell acute lymphoblastic leukemia
OrphaCode: 99860
DisorderType: Disease
Children: Name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
OrphaCode: 585877
DisorderType: Etiological subtype
Children: Name: B-lymphoblastic leukemia/lymphoma with t(17;19)
OrphaCode: 641375
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
OrphaCode: 585909
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
OrphaCode: 585918
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
OrphaCode: 585929
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
OrphaCode: 585936
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
OrphaCode: 585942
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
OrphaCode: 585948
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
OrphaCode: 585956
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
OrphaCode: 641372
DisorderType: Etiological subtype
Name: Precursor T-cell acute lymphoblastic leukemia
OrphaCode: 99861
DisorderType: Disease
Name: B-cell non-Hodgkin lymphoma
OrphaCode: 171915
DisorderType: Category
Children: Name: Indolent B-cell non-Hodgkin lymphoma
OrphaCode: 300842
DisorderType: Category
Children: Name: Follicular lymphoma
OrphaCode: 545
DisorderType: Disease
Name: Waldenström macroglobulinemia
OrphaCode: 33226
DisorderType: Disease
Name: Classic hairy cell leukemia
OrphaCode: 58017
DisorderType: Disease
Name: B-cell chronic lymphocytic leukemia
OrphaCode: 67038
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Hairy cell leukemia variant
OrphaCode: 300878
DisorderType: Disease
Name: Marginal zone lymphoma
OrphaCode: 300912
DisorderType: Clinical group
Children: Name: MALT lymphoma
OrphaCode: 52417
DisorderType: Disease
Name: Splenic marginal zone lymphoma
OrphaCode: 86854
DisorderType: Disease
Name: Nodal marginal zone B-cell lymphoma
OrphaCode: 86867
DisorderType: Disease
Name: Splenic diffuse red pulp small B-cell lymphoma
OrphaCode: 300869
DisorderType: Disease
Name: Lymphoplasmacytic lymphoma without IgM production
OrphaCode: 443159
DisorderType: Disease
Name: Aggressive B-cell non-Hodgkin lymphoma
OrphaCode: 300846
DisorderType: Category
Children: Name: Burkitt lymphoma
OrphaCode: 543
DisorderType: Disease
Name: Diffuse large B-cell lymphoma
OrphaCode: 544
DisorderType: Clinical group
Children: Name: Lymphomatoid granulomatosis
OrphaCode: 86869
DisorderType: Disease
Name: Primary mediastinal large B-cell lymphoma
OrphaCode: 98838
DisorderType: Disease
Name: Intravascular large B-cell lymphoma
OrphaCode: 98839
DisorderType: Disease
Name: Epstein-Barr virus-positive diffuse large B-cell lymphoma
OrphaCode: 289661
DisorderType: Disease
Name: Diffuse large B-cell lymphoma of the central nervous system
OrphaCode: 300849
DisorderType: Disease
Name: T-cell/histiocyte rich large B cell lymphoma
OrphaCode: 300857
DisorderType: Disease
Name: Diffuse large B-cell lymphoma with chronic inflammation
OrphaCode: 300888
DisorderType: Disease
Name: ALK-positive large B-cell lymphoma
OrphaCode: 364043
DisorderType: Disease
Name: Primary effusion lymphoma
OrphaCode: 48686
DisorderType: Disease
Name: Mantle cell lymphoma
OrphaCode: 52416
DisorderType: Disease
Name: B-cell prolymphocytic leukemia
OrphaCode: 86852
DisorderType: Disease
Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Plasmablastic lymphoma
OrphaCode: 289666
DisorderType: Disease
Name: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
OrphaCode: 480541
DisorderType: Disease
Name: T-cell non-Hodgkin lymphoma
OrphaCode: 171918
DisorderType: Category
Children: Name: Post-transplant lymphoproliferative disease
OrphaCode: 70568
DisorderType: Disease
Name: Blastic plasmacytoid dendritic cell neoplasm
OrphaCode: 86870
DisorderType: Disease
Name: T-cell prolymphocytic leukemia
OrphaCode: 86871
DisorderType: Disease
Name: Enteropathy-associated T-cell lymphoma
OrphaCode: 86880
DisorderType: Disease
Name: Hepatosplenic T-cell lymphoma
OrphaCode: 86882
DisorderType: Disease
Name: Angioimmunoblastic T-cell lymphoma
OrphaCode: 86886
DisorderType: Disease
Name: Anaplastic large cell lymphoma
OrphaCode: 98841
DisorderType: Disease
Children: Name: ALK-positive anaplastic large cell lymphoma
OrphaCode: 300895
DisorderType: Histopathological subtype
Name: ALK-negative anaplastic large cell lymphoma
OrphaCode: 300903
DisorderType: Histopathological subtype
Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
OrphaCode: 364033
DisorderType: Disease
Name: Hydroa vacciniforme-like lymphoma
OrphaCode: 364039
DisorderType: Disease
Name: Breast implant-associated anaplastic large cell lymphoma
OrphaCode: 667662
DisorderType: Disease
Name: Monomorphic epitheliotropic intestinal T-cell lymphoma
OrphaCode: 652658
DisorderType: Disease
Name: Large granular lymphocyte leukemia
OrphaCode: 512034
DisorderType: Clinical group
Children: Name: T-cell large granular lymphocyte leukemia
OrphaCode: 86872
DisorderType: Disease
Name: Aggressive NK-cell leukemia
OrphaCode: 86873
DisorderType: Disease
Name: Chronic lymphoproliferative disorder of natural killer cells
OrphaCode: 512017
DisorderType: Disease
Name: Nodal T-follicular helper cell lymphoma, follicular type
OrphaCode: 652650
DisorderType: Disease
Name: Hodgkin lymphoma
OrphaCode: 98293
DisorderType: Clinical group
Children: Name: Classic Hodgkin lymphoma
OrphaCode: 391
DisorderType: Disease
Children: Name: Classic Hodgkin lymphoma, nodular sclerosis type
OrphaCode: 98843
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, mixed cellularity type
OrphaCode: 98844
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, lymphocyte-rich type
OrphaCode: 98845
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, lymphocyte-depleted type
OrphaCode: 98846
DisorderType: Histopathological subtype
Name: Nodular lymphocyte predominant Hodgkin lymphoma
OrphaCode: 86893
DisorderType: Disease
Name: Composite lymphoma
OrphaCode: 168966
DisorderType: Disease
Name: Primary organ-specific lymphoma
OrphaCode: 279911
DisorderType: Category
Children: Name: Primary pulmonary lymphoma
OrphaCode: 2420
DisorderType: Disease
Name: Primary cutaneous lymphoma
OrphaCode: 542
DisorderType: Category
Children: Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Primary cutaneous B-cell lymphoma
OrphaCode: 178563
DisorderType: Category
Children: Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Primary central nervous system lymphoma
OrphaCode: 46135
DisorderType: Disease
Name: Thyroid lymphoma
OrphaCode: 97285
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Primary intraocular lymphoma
OrphaCode: 279904
DisorderType: Disease
Name: Primary bone lymphoma
OrphaCode: 314684
DisorderType: Disease
Name: Primary lymphoma of the conjunctiva
OrphaCode: 319667
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: Persistent polyclonal B-cell lymphocytosis
OrphaCode: 300324
DisorderType: Disease
Name: Castleman disease
OrphaCode: 160
DisorderType: Disease
Children: Name: Unicentric Castleman disease
OrphaCode: 93685
DisorderType: Clinical subtype
Name: HHV-8-associated multicentric Castleman disease
OrphaCode: 570438
DisorderType: Clinical subtype
Name: Idiopathic multicentric Castleman disease
OrphaCode: 570431
DisorderType: Clinical subtype
Name: Monoclonal mast cell activation syndrome
OrphaCode: 529468
DisorderType: Disease
Name: Rare bone tumor
OrphaCode: 68411
DisorderType: Category
Children: Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Aneurysmal bone cyst
OrphaCode: 480553
DisorderType: Disease
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Adamantinoma
OrphaCode: 55881
DisorderType: Disease
Name: Osteoblastoma
OrphaCode: 58040
DisorderType: Disease
Name: Solitary bone cyst
OrphaCode: 83468
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Bone sarcoma
OrphaCode: 223727
DisorderType: Clinical group
Children: Name: Undifferentiated pleomorphic sarcoma
OrphaCode: 2023
DisorderType: Disease
Name: Fibrosarcoma
OrphaCode: 2030
DisorderType: Disease
Name: Osteosarcoma
OrphaCode: 668
DisorderType: Disease
Name: Skeletal Ewing sarcoma
OrphaCode: 319
DisorderType: Disease
Name: Chondrosarcoma
OrphaCode: 55880
DisorderType: Disease
Name: Giant cell tumor of bone
OrphaCode: 363976
DisorderType: Disease
Name: Peripheral primitive neuroectodermal tumor
OrphaCode: 370348
DisorderType: Disease
Name: Chondromyxoid fibroma
OrphaCode: 404507
DisorderType: Disease
Name: Familial ossifying fibroma
OrphaCode: 435329
DisorderType: Disease
Name: Rare soft tissue tumor
OrphaCode: 71209
DisorderType: Category
Children: Name: Nodular fasciitis
OrphaCode: 477742
DisorderType: Disease
Name: Myopericytoma
OrphaCode: 289685
DisorderType: Disease
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Kaposiform hemangioendothelioma
OrphaCode: 2122
DisorderType: Disease
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Soft tissue sarcoma
OrphaCode: 3394
DisorderType: Clinical group
Children: Name: SMARCA4-deficient sarcoma of thorax
OrphaCode: 466962
DisorderType: Disease
Name: Rhabdomyosarcoma
OrphaCode: 780
DisorderType: Disease
Children: Name: Alveolar rhabdomyosarcoma
OrphaCode: 99756
DisorderType: Clinical subtype
Name: Embryonal rhabdomyosarcoma
OrphaCode: 99757
DisorderType: Clinical subtype
Name: Pleomorphic rhabdomyosarcoma
OrphaCode: 293199
DisorderType: Clinical subtype
Name: Undifferentiated pleomorphic sarcoma
OrphaCode: 2023
DisorderType: Disease
Name: Fibrosarcoma
OrphaCode: 2030
DisorderType: Disease
Name: Solitary fibrous tumor
OrphaCode: 2126
DisorderType: Disease
Name: Malignant peripheral nerve sheath tumor
OrphaCode: 3148
DisorderType: Disease
Children: Name: Malignant triton tumor
OrphaCode: 252212
DisorderType: Histopathological subtype
Name: Malignant peripheral nerve sheath tumor with perineurial differentiation
OrphaCode: 252128
DisorderType: Histopathological subtype
Name: Synovial sarcoma
OrphaCode: 3273
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Kaposi sarcoma
OrphaCode: 33276
DisorderType: Disease
Name: Leiomyosarcoma
OrphaCode: 64720
DisorderType: Disease
Name: Rhabdoid tumor
OrphaCode: 69077
DisorderType: Disease
Name: Liposarcoma
OrphaCode: 69078
DisorderType: Disease
Children: Name: Myxoid/round cell liposarcoma
OrphaCode: 99967
DisorderType: Histopathological subtype
Name: Pleomorphic liposarcoma
OrphaCode: 99969
DisorderType: Histopathological subtype
Name: Dedifferentiated liposarcoma
OrphaCode: 99970
DisorderType: Histopathological subtype
Name: Well-differentiated liposarcoma
OrphaCode: 99971
DisorderType: Histopathological subtype
Name: Myxofibrosarcoma
OrphaCode: 79105
DisorderType: Disease
Name: Desmoplastic small round cell tumor
OrphaCode: 83469
DisorderType: Disease
Name: Alveolar soft tissue sarcoma
OrphaCode: 163699
DisorderType: Disease
Name: Extraskeletal myxoid chondrosarcoma
OrphaCode: 209916
DisorderType: Disease
Name: Angiosarcoma
OrphaCode: 263413
DisorderType: Disease
Name: Epithelioid sarcoma
OrphaCode: 293202
DisorderType: Disease
Name: Extraskeletal Ewing sarcoma
OrphaCode: 370334
DisorderType: Disease
Name: Isolated melanotic schwannoma
OrphaCode: 590539
DisorderType: Disease
Name: Follicular dendritic cell sarcoma
OrphaCode: 86902
DisorderType: Disease
Name: Peripheral primitive neuroectodermal tumor
OrphaCode: 370348
DisorderType: Disease
Name: Atypical teratoid rhabdoid tumor
OrphaCode: 99966
DisorderType: Disease
Name: Desmoid tumor
OrphaCode: 873
DisorderType: Disease
Name: Mazabraud syndrome
OrphaCode: 57782
DisorderType: Malformation syndrome
Name: Melanoma of soft tissue
OrphaCode: 97338
DisorderType: Disease
Name: Congenital epulis
OrphaCode: 157826
DisorderType: Disease
Name: Inflammatory myofibroblastic tumor
OrphaCode: 178342
DisorderType: Disease
Name: Lipoblastoma
OrphaCode: 247762
DisorderType: Disease
Name: Glomus tumor
OrphaCode: 391651
DisorderType: Disease
Name: Perivascular epithelioid cell neoplasm
OrphaCode: 595133
DisorderType: Disease
Name: Rare skin tumor or hamartoma
OrphaCode: 79386
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Extramammary Paget disease
OrphaCode: 2800
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Rombo syndrome
OrphaCode: 3110
DisorderType: Disease
Name: Primary cutaneous lymphoma
OrphaCode: 542
DisorderType: Category
Children: Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Primary cutaneous B-cell lymphoma
OrphaCode: 178563
DisorderType: Category
Children: Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Familial melanoma
OrphaCode: 618
DisorderType: Disease
Name: Proliferating trichilemmal cyst
OrphaCode: 492
DisorderType: Disease
Name: Syringocystadenoma papilliferum
OrphaCode: 840
DisorderType: Disease
Name: Trichofolliculoma
OrphaCode: 864
DisorderType: Disease
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Familial keratoacanthoma
OrphaCode: 493
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Multiple self-healing squamous epithelioma
OrphaCode: 65748
DisorderType: Disease
Name: Cutaneous neuroendocrine carcinoma
OrphaCode: 79140
DisorderType: Disease
Name: Brooke-Spiegler syndrome
OrphaCode: 79493
DisorderType: Disease
Children: Name: Familial cylindromatosis
OrphaCode: 211
DisorderType: Clinical subtype
Name: Familial multiple trichoepithelioma
OrphaCode: 867
DisorderType: Clinical subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Pilomatrixoma
OrphaCode: 91414
DisorderType: Disease
Name: Generalized basaloid follicular hamartoma syndrome
OrphaCode: 168632
DisorderType: Disease
Name: Malignant melanoma of the mucosa
OrphaCode: 168999
DisorderType: Disease
Name: Superficial fibromatosis
OrphaCode: 199257
DisorderType: Clinical group
Children: Name: Ledderhose disease
OrphaCode: 199251
DisorderType: Disease
Name: Calcifying aponeurotic fibroma
OrphaCode: 199260
DisorderType: Disease
Name: Infantile digital fibromatosis
OrphaCode: 199267
DisorderType: Disease
Name: Congenital smooth muscle hamartoma
OrphaCode: 263435
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Rare nevus
OrphaCode: 294057
DisorderType: Category
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Large congenital melanocytic nevus
OrphaCode: 626
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Neurocutaneous melanocytosis
OrphaCode: 2481
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Linear verrucous nevus syndrome
OrphaCode: 2611
DisorderType: Disease
Children: Name: Inflammatory linear verrucous epidermal nevus
OrphaCode: 79466
DisorderType: Clinical subtype
Name: Verrucous nevus
OrphaCode: 79467
DisorderType: Clinical subtype
Name: Acanthokeratolytic verrucous nevus
OrphaCode: 79468
DisorderType: Clinical subtype
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Nevus comedonicus syndrome
OrphaCode: 64754
DisorderType: Disease
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Congenital panfollicular nevus
OrphaCode: 139414
DisorderType: Disease
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Porokeratotic eccrine ostial and dermal duct nevus
OrphaCode: 166286
DisorderType: Disease
Name: White sponge nevus
OrphaCode: 171723
DisorderType: Disease
Name: Nevus of Ota
OrphaCode: 263425
DisorderType: Disease
Name: Nevus of Ito
OrphaCode: 263432
DisorderType: Disease
Name: PENS syndrome
OrphaCode: 313936
DisorderType: Disease
Name: Angora hair nevus
OrphaCode: 370039
DisorderType: Disease
Name: Didymosis aplasticosebacea
OrphaCode: 370046
DisorderType: Disease
Name: SCALP syndrome
OrphaCode: 370052
DisorderType: Disease
Name: NEVADA syndrome
OrphaCode: 370059
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: Rare nail tumor
OrphaCode: 300515
DisorderType: Category
Children: Name: Onychocytic matricoma
OrphaCode: 300504
DisorderType: Disease
Name: Onychomatricoma
OrphaCode: 300512
DisorderType: Disease
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Generalized eruptive keratoacanthoma
OrphaCode: 411777
DisorderType: Disease
Name: Pilomatrix carcinoma
OrphaCode: 499182
DisorderType: Disease
Name: Familial multiple discoid fibromas
OrphaCode: 538756
DisorderType: Disease
Name: Angiomatoid fibrous histiocytoma
OrphaCode: 569164
DisorderType: Disease
Name: Eccrine angiomatous hamartoma
OrphaCode: 673568
DisorderType: Disease
Name: Intravascular papillary endothelial hyperplasia
OrphaCode: 673525
DisorderType: Disease
Name: Rare renal tumor
OrphaCode: 93619
DisorderType: Category
Children: Name: Benign metanephric tumor
OrphaCode: 464359
DisorderType: Disease
Name: Congenital mesoblastic nephroma
OrphaCode: 2665
DisorderType: Disease
Name: Nephroblastoma
OrphaCode: 654
DisorderType: Disease
Name: Multiloculated renal cyst
OrphaCode: 97366
DisorderType: Morphological anomaly
Name: Renal cell carcinoma
OrphaCode: 217071
DisorderType: Clinical group
Children: Name: Collecting duct carcinoma
OrphaCode: 247203
DisorderType: Disease
Name: Clear cell renal carcinoma
OrphaCode: 319276
DisorderType: Disease
Children: Name: Multilocular cystic renal neoplasm of low malignant potential
OrphaCode: 319287
DisorderType: Histopathological subtype
Name: Clear cell papillary renal cell carcinoma
OrphaCode: 404511
DisorderType: Histopathological subtype
Name: Papillary renal cell carcinoma
OrphaCode: 319298
DisorderType: Disease
Name: Chromophobe renal cell carcinoma
OrphaCode: 319303
DisorderType: Disease
Name: MiT family translocation renal cell carcinoma
OrphaCode: 319308
DisorderType: Disease
Name: Renal medullary carcinoma
OrphaCode: 319319
DisorderType: Disease
Name: Mucinous tubular and spindle cell renal carcinoma
OrphaCode: 319322
DisorderType: Disease
Name: Tubulocystic renal cell carcinoma
OrphaCode: 319325
DisorderType: Disease
Name: Acquired cystic disease-associated renal cell carcinoma
OrphaCode: 404514
DisorderType: Disease
Name: Cystic hamartoma of lung and kidney
OrphaCode: 2111
DisorderType: Disease
Name: Clear cell sarcoma of kidney
OrphaCode: 457246
DisorderType: Disease
Name: Rare digestive tumor
OrphaCode: 98059
DisorderType: Category
Children: Name: Rare hepatic and biliary tract tumor
OrphaCode: 101943
DisorderType: Category
Children: Name: Rare tumor of gallbladder and extrahepatic biliary tract
OrphaCode: 306633
DisorderType: Category
Children: Name: Carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 56044
DisorderType: Clinical group
Children: Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Klatskin tumor
OrphaCode: 99978
DisorderType: Disease
Name: Adenocarcinoma of the gallbladder and extrahepatic biliary tract
OrphaCode: 424991
DisorderType: Disease
Name: Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 424996
DisorderType: Disease
Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Gallbladder neuroendocrine tumor
OrphaCode: 100086
DisorderType: Disease
Name: Rare tumor of liver and intrahepatic biliary tract
OrphaCode: 306636
DisorderType: Category
Children: Name: Hepatoblastoma
OrphaCode: 449
DisorderType: Disease
Name: Hepatic cystic hamartoma
OrphaCode: 386
DisorderType: Disease
Name: Hepatocellular adenoma
OrphaCode: 54272
DisorderType: Disease
Name: Undifferentiated embryonal sarcoma of the liver
OrphaCode: 178315
DisorderType: Disease
Name: Rare malignant epithelial tumor of liver and intrahepatic biliary tract
OrphaCode: 424933
DisorderType: Category
Children: Name: Primary hepatic neuroendocrine carcinoma
OrphaCode: 100085
DisorderType: Disease
Name: Carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424936
DisorderType: Category
Children: Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Hepatocellular carcinoma
OrphaCode: 88673
DisorderType: Clinical group
Children: Name: Pediatric hepatocellular carcinoma
OrphaCode: 33402
DisorderType: Disease
Name: Adult hepatocellular carcinoma
OrphaCode: 210159
DisorderType: Disease
Name: Fibrolamellar hepatocellular carcinoma
OrphaCode: 401920
DisorderType: Disease
Name: Adenocarcinoma of the liver and intrahepatic biliary tract
OrphaCode: 424943
DisorderType: Disease
Name: Undifferentiated carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424970
DisorderType: Disease
Name: Squamous cell carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424975
DisorderType: Disease
Name: Biliary cystadenocarcinoma
OrphaCode: 424982
DisorderType: Disease
Name: Solitary necrotic nodule of the liver
OrphaCode: 100035
DisorderType: Disease
Name: Liver adenomatosis
OrphaCode: 566841
DisorderType: Disease
Name: Rare tumor of intestine
OrphaCode: 104011
DisorderType: Category
Children: Name: Rare tumor of small intestine
OrphaCode: 423793
DisorderType: Category
Children: Name: Monomorphic epitheliotropic intestinal T-cell lymphoma
OrphaCode: 652658
DisorderType: Disease
Name: Enteropathy-associated T-cell lymphoma
OrphaCode: 86880
DisorderType: Disease
Name: Mesenchymal tumor of small intestine
OrphaCode: 423798
DisorderType: Category
Children: Name: Gastrointestinal stromal tumor
OrphaCode: 44890
DisorderType: Disease
Name: Leiomyosarcoma of small intestine
OrphaCode: 104076
DisorderType: Disease
Name: Rare epithelial tumor of small intestine
OrphaCode: 425368
DisorderType: Category
Children: Name: Rare carcinoma of small intestine
OrphaCode: 423957
DisorderType: Category
Children: Name: Adenocarcinoma of the small intestine
OrphaCode: 104075
DisorderType: Disease
Name: Squamous cell carcinoma of the small intestine
OrphaCode: 423968
DisorderType: Disease
Name: Neuroendocrine tumor of the small intestine
OrphaCode: 423975
DisorderType: Category
Children: Name: Duodenal neuroendocrine tumor
OrphaCode: 100076
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: Jejunal neuroendocrine tumor
OrphaCode: 100077
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Ileal neuroendocrine tumor
OrphaCode: 100078
DisorderType: Disease
Name: Epithelial tumor of the appendix
OrphaCode: 423982
DisorderType: Category
Children: Name: Neuroendocrine neoplasm of appendix
OrphaCode: 100079
DisorderType: Disease
Children: Name: Classic neuroendocrine tumor of appendix
OrphaCode: 329977
DisorderType: Clinical subtype
Name: Goblet cell carcinoma
OrphaCode: 329984
DisorderType: Clinical subtype
Name: Mucinous adenocarcinoma of the appendix
OrphaCode: 391723
DisorderType: Disease
Name: Rare epithelial tumor of colon
OrphaCode: 423991
DisorderType: Category
Children: Name: Neuroendocrine tumor of the colon
OrphaCode: 100080
DisorderType: Disease
Name: Squamous cell carcinoma of the colon
OrphaCode: 423994
DisorderType: Disease
Name: Rare epithelial tumor of rectum
OrphaCode: 423998
DisorderType: Category
Children: Name: Neuroendocrine tumor of the rectum
OrphaCode: 100081
DisorderType: Disease
Name: Squamous cell carcinoma of the rectum
OrphaCode: 424002
DisorderType: Disease
Name: Epithelial tumor of anal canal
OrphaCode: 424010
DisorderType: Category
Children: Name: Neuroendocrine tumor of anal canal
OrphaCode: 100082
DisorderType: Disease
Name: Carcinoma of the anal canal
OrphaCode: 424013
DisorderType: Clinical group
Children: Name: Adenocarcinoma of the anal canal
OrphaCode: 424016
DisorderType: Disease
Name: Squamous cell carcinoma of the anal canal
OrphaCode: 424019
DisorderType: Disease
Name: Rare gastroesophageal tumor
OrphaCode: 180821
DisorderType: Category
Children: Name: Rare epithelial tumor of stomach
OrphaCode: 63443
DisorderType: Category
Children: Name: Neuroendocrine tumor of stomach
OrphaCode: 100075
DisorderType: Disease
Name: Rare carcinoma of stomach
OrphaCode: 423771
DisorderType: Category
Children: Name: Gastric linitis plastica
OrphaCode: 36273
DisorderType: Disease
Name: Epstein-Barr virus-associated gastric carcinoma
OrphaCode: 313920
DisorderType: Disease
Name: Squamous cell carcinoma of the stomach
OrphaCode: 418959
DisorderType: Disease
Name: Hereditary gastric cancer
OrphaCode: 423776
DisorderType: Category
Children: Name: Hereditary diffuse gastric cancer
OrphaCode: 26106
DisorderType: Disease
Name: Gastric adenocarcinoma and proximal polyposis of the stomach
OrphaCode: 314022
DisorderType: Disease
Name: Undifferentiated carcinoma of stomach
OrphaCode: 423786
DisorderType: Disease
Name: Familial gastric type 1 neuroendocrine tumor
OrphaCode: 464756
DisorderType: Disease
Name: Carcinoma of esophagus
OrphaCode: 70482
DisorderType: Clinical group
Children: Name: Adenocarcinoma of the esophagus
OrphaCode: 99976
DisorderType: Disease
Name: Squamous cell carcinoma of the esophagus
OrphaCode: 99977
DisorderType: Disease
Name: Carcinoma of esophagus, salivary gland type
OrphaCode: 418945
DisorderType: Disease
Name: Undifferentiated carcinoma of esophagus
OrphaCode: 418951
DisorderType: Disease
Name: Neuroendocrine neoplasm of esophagus
OrphaCode: 506136
DisorderType: Disease
Name: Rare tumor of pancreas
OrphaCode: 180824
DisorderType: Category
Children: Name: Rare epithelial tumor of pancreas
OrphaCode: 424033
DisorderType: Category
Children: Name: Pancreatoblastoma
OrphaCode: 677
DisorderType: Disease
Name: Neuroendocrine neoplasm of pancreas
OrphaCode: 506052
DisorderType: Category
Children: Name: Neuroendocrine tumor of pancreas
OrphaCode: 97253
DisorderType: Category
Children: Name: Functioning neuroendocrine tumor of pancreas
OrphaCode: 506060
DisorderType: Category
Children: Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: GRFoma
OrphaCode: 97261
DisorderType: Disease
Name: PPoma
OrphaCode: 97278
DisorderType: Disease
Name: Insulinoma
OrphaCode: 97279
DisorderType: Disease
Name: Glucagonoma
OrphaCode: 97280
DisorderType: Disease
Name: VIPoma
OrphaCode: 97282
DisorderType: Disease
Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Serotonin-producing neuroendocrine tumor of pancreas
OrphaCode: 506090
DisorderType: Disease
Name: Non-functioning neuroendocrine tumor of pancreas
OrphaCode: 506075
DisorderType: Disease
Name: Neuroendocrine carcinoma of pancreas
OrphaCode: 506098
DisorderType: Disease
Name: Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
OrphaCode: 506112
DisorderType: Disease
Name: Rare carcinoma of pancreas
OrphaCode: 217074
DisorderType: Category
Children: Name: Familial pancreatic carcinoma
OrphaCode: 1333
DisorderType: Disease
Name: Squamous cell carcinoma of pancreas
OrphaCode: 424039
DisorderType: Disease
Name: Acinar cell carcinoma of pancreas
OrphaCode: 424046
DisorderType: Disease
Name: Mucinous cystadenocarcinoma of the pancreas
OrphaCode: 424053
DisorderType: Disease
Name: Intraductal papillary mucinous carcinoma of pancreas
OrphaCode: 424058
DisorderType: Disease
Name: Solid pseudopapillary carcinoma of pancreas
OrphaCode: 424065
DisorderType: Disease
Name: Serous cystadenocarcinoma of pancreas
OrphaCode: 424073
DisorderType: Disease
Name: Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
OrphaCode: 424080
DisorderType: Disease
Name: Adenoma of pancreas
OrphaCode: 93292
DisorderType: Disease
Name: Intraductal tubulopapillary neoplasm of pancreas
OrphaCode: 580572
DisorderType: Disease
Name: GCGR-related hyperglucagonemia
OrphaCode: 438274
DisorderType: Disease
Name: Rare tumor of salivary glands
OrphaCode: 276142
DisorderType: Category
Children: Name: Malignant epithelial tumor of salivary glands
OrphaCode: 276145
DisorderType: Disease
Children: Name: Squamous cell carcinoma of salivary glands
OrphaCode: 500481
DisorderType: Histopathological subtype
Name: Benign epithelial tumor of salivary glands
OrphaCode: 276148
DisorderType: Disease
Children: Name: Pleomorphic salivary gland adenoma
OrphaCode: 454821
DisorderType: Histopathological subtype
Name: Carcinoma of the ampulla of Vater
OrphaCode: 300557
DisorderType: Disease
Name: Rare respiratory tumor
OrphaCode: 98060
DisorderType: Category
Children: Name: Nasopharyngeal carcinoma
OrphaCode: 150
DisorderType: Disease
Name: Rare bronchopulmonary and pleural cavity tumors
OrphaCode: 101945
DisorderType: Category
Children: Name: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
OrphaCode: 617916
DisorderType: Disease
Name: Primary pulmonary lymphoma
OrphaCode: 2420
DisorderType: Disease
Name: Pleural mesothelioma
OrphaCode: 50251
DisorderType: Disease
Children: Name: Diffused pleural mesothelioma
OrphaCode: 675837
DisorderType: Clinical subtype
Name: Localized pleural mesothelioma
OrphaCode: 675833
DisorderType: Clinical subtype
Name: Pleural mesothelioma in situ
OrphaCode: 675841
DisorderType: Clinical subtype
Name: Pulmonary blastoma
OrphaCode: 64741
DisorderType: Disease
Name: Pleuropulmonary blastoma
OrphaCode: 64742
DisorderType: Disease
Children: Name: Pleuropulmonary blastoma type 1
OrphaCode: 99933
DisorderType: Clinical subtype
Name: Pleuropulmonary blastoma type 2
OrphaCode: 99934
DisorderType: Clinical subtype
Name: Pleuropulmonary blastoma type 3
OrphaCode: 99935
DisorderType: Clinical subtype
Name: DICER1 tumor-predisposition syndrome
OrphaCode: 284343
DisorderType: Disease
Name: Fetal lung interstitial tumor
OrphaCode: 284362
DisorderType: Clinical subtype
Name: Small cell lung cancer
OrphaCode: 70573
DisorderType: Disease
Name: Bronchial neuroendocrine tumor
OrphaCode: 97287
DisorderType: Disease
Name: Well-differentiated fetal adenocarcinoma of the lung
OrphaCode: 284395
DisorderType: Disease
Name: Well-differentiated papillary mesothelial tumour of the pleura
OrphaCode: 675822
DisorderType: Disease
Name: Adenomatoid tumour of the pleura
OrphaCode: 675814
DisorderType: Disease
Name: SMARCA4-deficient sarcoma of thorax
OrphaCode: 466962
DisorderType: Disease
Name: Rare nervous system tumor
OrphaCode: 98062
DisorderType: Category
Children: Name: Primary central nervous system lymphoma
OrphaCode: 46135
DisorderType: Disease
Name: Craniopharyngioma
OrphaCode: 54595
DisorderType: Disease
Name: Rare tumor of neuroepithelial tissue
OrphaCode: 251558
DisorderType: Category
Children: Name: Glial tumor
OrphaCode: 182067
DisorderType: Clinical group
Children: Name: Ependymal tumor
OrphaCode: 301
DisorderType: Clinical group
Children: Name: Anaplastic ependymoma
OrphaCode: 251646
DisorderType: Disease
Name: Ependymoma
OrphaCode: 251636
DisorderType: Disease
Name: RELA fusion-positive ependymoma
OrphaCode: 530792
DisorderType: Disease
Name: Subependymoma
OrphaCode: 251639
DisorderType: Disease
Name: Myxopapillary ependymoma
OrphaCode: 251643
DisorderType: Disease
Name: Astrocytoma
OrphaCode: 94
DisorderType: Clinical group
Children: Name: High-grade astrocytoma
OrphaCode: 251561
DisorderType: Clinical group
Children: Name: Diffuse intrinsic pontine glioma
OrphaCode: 497188
DisorderType: Disease
Name: Glioblastoma
OrphaCode: 360
DisorderType: Disease
Children: Name: Gliosarcoma
OrphaCode: 251576
DisorderType: Histopathological subtype
Name: Giant cell glioblastoma
OrphaCode: 251579
DisorderType: Histopathological subtype
Name: Gliomatosis cerebri
OrphaCode: 251582
DisorderType: Disease
Name: Anaplastic astrocytoma
OrphaCode: 251589
DisorderType: Disease
Name: Low-grade astrocytoma
OrphaCode: 251592
DisorderType: Clinical group
Children: Name: Diffuse astrocytoma
OrphaCode: 251595
DisorderType: Disease
Children: Name: Protoplasmic astrocytoma
OrphaCode: 251598
DisorderType: Histopathological subtype
Name: Fibrillary astrocytoma
OrphaCode: 251601
DisorderType: Histopathological subtype
Name: Gemistocytic astrocytoma
OrphaCode: 251604
DisorderType: Histopathological subtype
Name: Pleomorphic xanthoastrocytoma
OrphaCode: 251607
DisorderType: Disease
Name: Pilocytic astrocytoma
OrphaCode: 251612
DisorderType: Disease
Children: Name: Pilocytic astrocytoma with histological features of anaplasia
OrphaCode: 673585
DisorderType: Clinical subtype
Name: Classic pilocytic astrocytoma
OrphaCode: 673580
DisorderType: Clinical subtype
Name: Pilomyxoid astrocytoma
OrphaCode: 251615
DisorderType: Histopathological subtype
Name: Subependymal giant cell astrocytoma
OrphaCode: 251618
DisorderType: Disease
Name: Pituicytoma
OrphaCode: 251623
DisorderType: Disease
Name: Oligodendroglial tumor
OrphaCode: 46484
DisorderType: Clinical group
Children: Name: Oligodendroglioma
OrphaCode: 251627
DisorderType: Disease
Name: Anaplastic oligodendroglioma
OrphaCode: 251630
DisorderType: Disease
Name: Oligoastrocytic tumor
OrphaCode: 251651
DisorderType: Clinical group
Children: Name: Oligoastrocytoma
OrphaCode: 251656
DisorderType: Disease
Name: Anaplastic oligoastrocytoma
OrphaCode: 251663
DisorderType: Disease
Name: Glial tumor of neuroepithelial tissue with unknown origin
OrphaCode: 251668
DisorderType: Clinical group
Children: Name: Angiocentric glioma
OrphaCode: 251671
DisorderType: Disease
Name: Chordoid glioma
OrphaCode: 251674
DisorderType: Disease
Name: Astroblastoma
OrphaCode: 251679
DisorderType: Disease
Name: Embryonal tumor of neuroepithelial tissue
OrphaCode: 251852
DisorderType: Category
Children: Name: Medulloblastoma
OrphaCode: 616
DisorderType: Disease
Children: Name: Anaplastic/large cell medulloblastoma
OrphaCode: 251855
DisorderType: Histopathological subtype
Name: Medulloblastoma with extensive nodularity
OrphaCode: 251858
DisorderType: Histopathological subtype
Name: Desmoplastic/nodular medulloblastoma
OrphaCode: 251863
DisorderType: Histopathological subtype
Name: Classic medulloblastoma
OrphaCode: 251867
DisorderType: Histopathological subtype
Name: Atypical teratoid rhabdoid tumor
OrphaCode: 99966
DisorderType: Disease
Name: Central nervous system embryonal tumor
OrphaCode: 251870
DisorderType: Clinical group
Children: Name: Neuroblastoma
OrphaCode: 635
DisorderType: Disease
Name: Esthesioneuroblastoma
OrphaCode: 1957
DisorderType: Disease
Name: Ganglioneuroblastoma
OrphaCode: 251877
DisorderType: Disease
Name: Embryonal tumor with multilayered rosettes
OrphaCode: 656417
DisorderType: Disease
Name: Choroid plexus tumor
OrphaCode: 251896
DisorderType: Clinical group
Children: Name: Papilloma of choroid plexus
OrphaCode: 2807
DisorderType: Disease
Name: Choroid plexus carcinoma
OrphaCode: 251899
DisorderType: Disease
Name: Atypical papilloma of choroid plexus
OrphaCode: 251902
DisorderType: Disease
Name: Pineal tumor of neuroepithelial tissue
OrphaCode: 251905
DisorderType: Clinical group
Children: Name: Pineoblastoma
OrphaCode: 251909
DisorderType: Disease
Name: Pineocytoma
OrphaCode: 251912
DisorderType: Disease
Name: Papillary tumor of the pineal region
OrphaCode: 251915
DisorderType: Disease
Name: Pineal parenchymal tumor of intermediate differentiation
OrphaCode: 251919
DisorderType: Disease
Name: Neuronal tumor
OrphaCode: 251924
DisorderType: Clinical group
Children: Name: Central neurocytoma
OrphaCode: 73256
DisorderType: Disease
Name: Extraventricular neurocytoma
OrphaCode: 251927
DisorderType: Disease
Name: Cerebellar liponeurocytoma
OrphaCode: 251931
DisorderType: Disease
Name: Mixed neuronal-glial tumor
OrphaCode: 251934
DisorderType: Clinical group
Children: Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Gangliocytoma
OrphaCode: 251937
DisorderType: Disease
Name: Desmoplastic infantile astrocytoma/ganglioglioma
OrphaCode: 251940
DisorderType: Disease
Name: Dysembryoplastic neuroepithelial tumor
OrphaCode: 251946
DisorderType: Disease
Name: Ganglioglioma
OrphaCode: 251949
DisorderType: Disease
Children: Name: Nasal ganglioglioma
OrphaCode: 141115
DisorderType: Disease
Name: Anaplastic ganglioglioma
OrphaCode: 251957
DisorderType: Disease
Name: Papillary glioneuronal tumor
OrphaCode: 251962
DisorderType: Disease
Name: Rosette-forming glioneuronal tumor
OrphaCode: 251975
DisorderType: Disease
Name: Ganglioneuroma
OrphaCode: 251992
DisorderType: Disease
Name: Primary germ cell tumor of central nervous system
OrphaCode: 251995
DisorderType: Category
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Choriocarcinoma of the central nervous system
OrphaCode: 252015
DisorderType: Disease
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Tumor of meninges
OrphaCode: 252025
DisorderType: Category
Children: Name: Meningioma
OrphaCode: 2495
DisorderType: Disease
Name: Primary melanocytic tumor of central nervous system
OrphaCode: 252028
DisorderType: Category
Children: Name: Diffuse leptomeningeal melanocytosis
OrphaCode: 252031
DisorderType: Disease
Name: Meningeal melanocytoma
OrphaCode: 252046
DisorderType: Disease
Name: Primary melanoma of the central nervous system
OrphaCode: 252050
DisorderType: Disease
Name: Familial multiple meningioma
OrphaCode: 263662
DisorderType: Disease
Name: Hemangioblastoma
OrphaCode: 252054
DisorderType: Disease
Name: Tumor of cranial and spinal nerves
OrphaCode: 252057
DisorderType: Category
Children: Name: Optic pathway glioma
OrphaCode: 2086
DisorderType: Disease
Name: Malignant peripheral nerve sheath tumor
OrphaCode: 3148
DisorderType: Disease
Children: Name: Malignant triton tumor
OrphaCode: 252212
DisorderType: Histopathological subtype
Name: Malignant peripheral nerve sheath tumor with perineurial differentiation
OrphaCode: 252128
DisorderType: Histopathological subtype
Name: Perineurioma
OrphaCode: 85102
DisorderType: Clinical group
Children: Name: Extraneural perineurioma
OrphaCode: 100002
DisorderType: Disease
Children: Name: Reticular perineurioma
OrphaCode: 100000
DisorderType: Clinical subtype
Name: Sclerosing perineurioma
OrphaCode: 100001
DisorderType: Clinical subtype
Name: Intraneural perineurioma
OrphaCode: 100003
DisorderType: Disease
Name: Benign peripheral nerve sheath tumor
OrphaCode: 252131
DisorderType: Category
Children: Name: Benign schwannoma
OrphaCode: 252164
DisorderType: Disease
Children: Name: Vestibular schwannoma
OrphaCode: 252175
DisorderType: Clinical subtype
Name: Neurofibroma
OrphaCode: 252183
DisorderType: Disease
Name: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
OrphaCode: 300501
DisorderType: Malformation syndrome
Name: Isolated melanotic schwannoma
OrphaCode: 590539
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Rare gynecological tumor
OrphaCode: 98063
DisorderType: Category
Children: Name: Rare vulvovaginal tumor
OrphaCode: 180312
DisorderType: Category
Children: Name: Vulvar intraepithelial neoplasia
OrphaCode: 137583
DisorderType: Disease
Name: Vaginal carcinoma
OrphaCode: 180247
DisorderType: Disease
Name: Malignant germ cell tumor of the vagina
OrphaCode: 206489
DisorderType: Disease
Name: Vulvovaginal rhabdomyosarcoma
OrphaCode: 206492
DisorderType: Disease
Name: Vulvar carcinoma
OrphaCode: 494418
DisorderType: Disease
Children: Name: Vulvar squamous cell carcinoma
OrphaCode: 494448
DisorderType: Histopathological subtype
Name: Vulvar basal cell carcinoma
OrphaCode: 494451
DisorderType: Histopathological subtype
Name: Vulvar adenocarcinoma
OrphaCode: 494454
DisorderType: Histopathological subtype
Name: Rare uterine cancer
OrphaCode: 213564
DisorderType: Category
Children: Name: Rare cancer of corpus uteri
OrphaCode: 213569
DisorderType: Category
Children: Name: Malignant mixed epithelial and mesenchymal tumor of corpus uteri
OrphaCode: 213589
DisorderType: Clinical group
Children: Name: Adenosarcoma of the corpus uteri
OrphaCode: 213600
DisorderType: Disease
Name: Carcinofibroma of the corpus uteri
OrphaCode: 213605
DisorderType: Disease
Name: Carcinosarcoma of the corpus uteri
OrphaCode: 213610
DisorderType: Disease
Name: Sarcoma of the corpus uteri
OrphaCode: 213620
DisorderType: Clinical group
Children: Name: Rhabdomyosarcoma of the corpus uteri
OrphaCode: 213615
DisorderType: Disease
Name: Leiomyosarcoma of the corpus uteri
OrphaCode: 213625
DisorderType: Disease
Name: Primitive neuroectodermal tumor of the corpus uteri
OrphaCode: 213630
DisorderType: Disease
Name: Endometrial stromal sarcoma
OrphaCode: 213711
DisorderType: Disease
Name: Squamous cell carcinoma of the corpus uteri
OrphaCode: 213716
DisorderType: Disease
Name: Undifferentiated carcinoma of the corpus uteri
OrphaCode: 213721
DisorderType: Disease
Name: Serous carcinoma of the corpus uteri
OrphaCode: 213726
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the corpus uteri
OrphaCode: 213731
DisorderType: Disease
Name: Low-grade neuroendocrine tumor of the corpus uteri
OrphaCode: 213736
DisorderType: Disease
Name: Transitional cell carcinoma of the corpus uteri
OrphaCode: 213746
DisorderType: Disease
Name: Malignant germ cell tumor of the corpus uteri
OrphaCode: 213751
DisorderType: Disease
Name: Rare cancer of cervix uteri
OrphaCode: 213761
DisorderType: Category
Children: Name: Squamous cell carcinoma of the cervix uteri
OrphaCode: 213767
DisorderType: Disease
Name: Adenocarcinoma of the cervix uteri
OrphaCode: 213772
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the cervix uteri
OrphaCode: 213777
DisorderType: Disease
Name: Malignant mixed epithelial and mesenchymal tumor of cervix uteri
OrphaCode: 213782
DisorderType: Clinical group
Children: Name: Carcinosarcoma of the cervix uteri
OrphaCode: 213787
DisorderType: Disease
Name: Adenosarcoma of the cervix uteri
OrphaCode: 213792
DisorderType: Disease
Name: Sarcoma of cervix uteri
OrphaCode: 213797
DisorderType: Clinical group
Children: Name: Rhabdomyosarcoma of the cervix uteri
OrphaCode: 213802
DisorderType: Disease
Name: Leiomyosarcoma of the cervix uteri
OrphaCode: 213807
DisorderType: Disease
Name: Primitive neuroectodermal tumor of the cervix uteri
OrphaCode: 213812
DisorderType: Disease
Name: Adenoid cystic carcinoma of the cervix uteri
OrphaCode: 213823
DisorderType: Disease
Name: Adenoid basal carcinoma of the cervix uteri
OrphaCode: 213828
DisorderType: Disease
Name: Glassy cell carcinoma of the cervix uteri
OrphaCode: 213833
DisorderType: Disease
Name: Malignant germ cell tumor of the cervix uteri
OrphaCode: 213837
DisorderType: Disease
Name: Gestational trophoblastic disease
OrphaCode: 254685
DisorderType: Category
Children: Name: Gestational trophoblastic neoplasm
OrphaCode: 59305
DisorderType: Clinical group
Children: Name: Invasive mole
OrphaCode: 99925
DisorderType: Disease
Name: Gestational choriocarcinoma
OrphaCode: 99926
DisorderType: Disease
Name: Placental site trophoblastic tumor
OrphaCode: 99928
DisorderType: Disease
Name: Epithelioid trophoblastic tumor
OrphaCode: 254698
DisorderType: Disease
Name: Hydatidiform mole
OrphaCode: 99927
DisorderType: Disease
Children: Name: Complete hydatidiform mole
OrphaCode: 254688
DisorderType: Clinical subtype
Name: Partial hydatidiform mole
OrphaCode: 254693
DisorderType: Clinical subtype
Name: Extramammary Paget disease
OrphaCode: 2800
DisorderType: Disease
Name: Rare uterine adnexal tumor
OrphaCode: 180220
DisorderType: Category
Children: Name: Rare benign ovarian tumor
OrphaCode: 97293
DisorderType: Category
Children: Name: Microcystic stromal tumor
OrphaCode: 569248
DisorderType: Disease
Name: Cystadenoma of childhood
OrphaCode: 206470
DisorderType: Disease
Children: Name: Seromucinous cystadenoma of childhood
OrphaCode: 563676
DisorderType: Histopathological subtype
Name: Mucinous cystadenoma of childhood
OrphaCode: 563671
DisorderType: Histopathological subtype
Name: Serous cystadenoma of childhood
OrphaCode: 563666
DisorderType: Histopathological subtype
Name: Meigs syndrome
OrphaCode: 314451
DisorderType: Clinical syndrome
Name: Pseudo-Meigs syndrome
OrphaCode: 314459
DisorderType: Clinical syndrome
Name: Atypical Meigs syndrome
OrphaCode: 314466
DisorderType: Clinical syndrome
Name: Ovarian fibroma
OrphaCode: 314473
DisorderType: Disease
Name: Ovarian fibrothecoma
OrphaCode: 314478
DisorderType: Disease
Name: Benign tumor of fallopian tubes
OrphaCode: 180237
DisorderType: Disease
Name: Malignant tumor of fallopian tubes
OrphaCode: 180242
DisorderType: Disease
Name: Ovarian cancer
OrphaCode: 213500
DisorderType: Category
Children: Name: Malignant epithelial tumor of ovary
OrphaCode: 398934
DisorderType: Category
Children: Name: Adenocarcinoma of ovary
OrphaCode: 213504
DisorderType: Disease
Name: Malignant mixed Müllerian tumor of the ovary
OrphaCode: 213512
DisorderType: Disease
Name: Mucinous adenocarcinoma of ovary
OrphaCode: 398961
DisorderType: Disease
Name: Clear cell adenocarcinoma of the ovary
OrphaCode: 398971
DisorderType: Disease
Name: Endometrioid carcinoma of ovary
OrphaCode: 454723
DisorderType: Disease
Name: Malignant non-epithelial tumor of ovary
OrphaCode: 398940
DisorderType: Category
Children: Name: Small cell carcinoma of the ovary
OrphaCode: 370396
DisorderType: Disease
Name: Malignant germ cell tumor of ovary
OrphaCode: 35807
DisorderType: Category
Children: Name: Ovarian dysgerminoma
OrphaCode: 99912
DisorderType: Disease
Name: Malignant non-dysgerminomatous germ cell tumor of ovary
OrphaCode: 206538
DisorderType: Disease
Name: Primary non-gestational choriocarcinoma of ovary
OrphaCode: 289356
DisorderType: Disease
Name: Malignant sex cord stromal tumor of ovary
OrphaCode: 35808
DisorderType: Category
Children: Name: Gynandroblastoma
OrphaCode: 99914
DisorderType: Disease
Name: Malignant granulosa cell tumor of the ovary
OrphaCode: 99915
DisorderType: Disease
Name: Malignant Sertoli-Leydig cell tumor of the ovary
OrphaCode: 99916
DisorderType: Disease
Name: Theca steroid-producing cell malignant tumor of ovary, not further specified
OrphaCode: 99917
DisorderType: Disease
Name: Gonadoblastoma
OrphaCode: 206484
DisorderType: Disease
Name: Malignant teratoma of ovary
OrphaCode: 398987
DisorderType: Disease
Name: Rare breast tumor
OrphaCode: 180250
DisorderType: Category
Children: Name: Rare benign breast tumor
OrphaCode: 180253
DisorderType: Category
Children: Name: Phyllodes tumor of the breast
OrphaCode: 180261
DisorderType: Disease
Name: Giant adenofibroma of the breast
OrphaCode: 180267
DisorderType: Disease
Name: Rare malignant breast tumor
OrphaCode: 180257
DisorderType: Category
Children: Name: Hereditary breast and/or ovarian cancer syndrome
OrphaCode: 145
DisorderType: Disease
Name: Paget disease of the nipple
OrphaCode: 180275
DisorderType: Disease
Name: Rare adenocarcinoma of the breast
OrphaCode: 213528
DisorderType: Disease
Name: Metaplastic carcinoma of the breast
OrphaCode: 213531
DisorderType: Disease
Name: Salivary gland type cancer of the breast
OrphaCode: 213557
DisorderType: Disease
Name: Hereditary breast cancer
OrphaCode: 227535
DisorderType: Disease
Name: Phyllodes tumor of the breast
OrphaCode: 180261
DisorderType: Disease
Name: Thymic tumor
OrphaCode: 100100
DisorderType: Category
Children: Name: Thymic epithelial neoplasm
OrphaCode: 3398
DisorderType: Category
Children: Name: Thymoma
OrphaCode: 99867
DisorderType: Disease
Children: Name: Thymoma type A
OrphaCode: 263310
DisorderType: Histopathological subtype
Name: Thymoma type B
OrphaCode: 263317
DisorderType: Histopathological subtype
Name: Thymoma type AB
OrphaCode: 263324
DisorderType: Histopathological subtype
Name: Thymic carcinoma
OrphaCode: 99868
DisorderType: Disease
Name: Thymic neuroendocrine carcinoma
OrphaCode: 99869
DisorderType: Disease
Children: Name: Well-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263331
DisorderType: Histopathological subtype
Name: Moderately-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263335
DisorderType: Histopathological subtype
Name: Poorly differentiated thymic neuroendocrine carcinoma
OrphaCode: 263339
DisorderType: Histopathological subtype
Name: Thymic neuroendocrine tumor
OrphaCode: 97289
DisorderType: Disease
Name: Rare eye tumor
OrphaCode: 101950
DisorderType: Category
Children: Name: Eyelid sebaceous carcinoma
OrphaCode: 658590
DisorderType: Disease
Name: Ocular surface squamous neoplasia
OrphaCode: 659744
DisorderType: Disease
Name: Conjunctival malignant melanoma
OrphaCode: 617910
DisorderType: Disease
Name: Choroidal osteoma
OrphaCode: 674965
DisorderType: Disease
Name: Retinoblastoma
OrphaCode: 790
DisorderType: Disease
Children: Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Non-hereditary retinoblastoma
OrphaCode: 357034
DisorderType: Clinical subtype
Name: Uveal melanoma
OrphaCode: 39044
DisorderType: Disease
Name: Orbital leiomyoma
OrphaCode: 52994
DisorderType: Disease
Name: Ring dermoid of cornea
OrphaCode: 91481
DisorderType: Disease
Name: Intraocular medulloepithelioma
OrphaCode: 268139
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Primary intraocular lymphoma
OrphaCode: 279904
DisorderType: Disease
Name: Combined hamartoma of the retina and retinal pigment epithelium
OrphaCode: 440727
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Vasoproliferative tumor of the retina
OrphaCode: 353356
DisorderType: Disease
Name: Rare cardiac tumor
OrphaCode: 168194
DisorderType: Category
Children: Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Familial atrial myxoma
OrphaCode: 615
DisorderType: Disease
Name: Primary adult heart tumor
OrphaCode: 874
DisorderType: Disease
Name: Primary pediatric heart tumor
OrphaCode: 875
DisorderType: Disease
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Primary peritoneal tumor
OrphaCode: 168803
DisorderType: Category
Children: Name: Primary benign peritoneal tumor
OrphaCode: 676030
DisorderType: Category
Children: Name: Well-differentiated papillary mesothelial tumour of the peritoneum
OrphaCode: 676033
DisorderType: Disease
Name: Adenomatoid tumour of the peritoneum
OrphaCode: 675976
DisorderType: Disease
Name: Peritoneal inclusion cyst
OrphaCode: 168816
DisorderType: Disease
Name: Pseudomyxoma peritonei
OrphaCode: 26790
DisorderType: Disease
Name: Disseminated peritoneal leiomyomatosis
OrphaCode: 71274
DisorderType: Disease
Name: Primary malignant peritoneal tumor
OrphaCode: 168807
DisorderType: Category
Children: Name: Desmoplastic small round cell tumor
OrphaCode: 83469
DisorderType: Disease
Name: Malignant peritoneal mesothelioma
OrphaCode: 168811
DisorderType: Disease
Name: Primary peritoneal carcinoma
OrphaCode: 168829
DisorderType: Disease
Name: Peritoneal mesothelioma in situ
OrphaCode: 676036
DisorderType: Disease
Name: Rare urogenital tumor
OrphaCode: 182114
DisorderType: Category
Children: Name: Rare urinary tract tumor
OrphaCode: 98058
DisorderType: Category
Children: Name: Upper tract urothelial carcinoma
OrphaCode: 598216
DisorderType: Disease
Name: Phyllodes tumor of the prostate
OrphaCode: 498228
DisorderType: Disease
Name: Familial prostate cancer
OrphaCode: 1331
DisorderType: Disease
Name: Non-papillary transitional cell carcinoma of the bladder
OrphaCode: 209989
DisorderType: Disease
Name: Small cell carcinoma of the bladder
OrphaCode: 284400
DisorderType: Disease
Name: Tumor of testis and paratestis
OrphaCode: 363472
DisorderType: Category
Children: Name: Paratesticular adenocarcinoma
OrphaCode: 363478
DisorderType: Disease
Name: Testicular teratoma
OrphaCode: 363483
DisorderType: Disease
Name: Sex cord-stromal tumor of testis
OrphaCode: 363489
DisorderType: Disease
Name: Germ cell tumor of testis
OrphaCode: 363504
DisorderType: Category
Children: Name: Testicular seminomatous germ cell tumor
OrphaCode: 842
DisorderType: Disease
Name: Spermatocytic seminoma
OrphaCode: 99865
DisorderType: Disease
Name: Non-seminomatous germ cell tumor of testis
OrphaCode: 363494
DisorderType: Disease
Name: Gonadoblastoma
OrphaCode: 206484
DisorderType: Disease
Name: Malignant tumor of penis
OrphaCode: 398043
DisorderType: Category
Children: Name: Adenocarcinoma of the penis
OrphaCode: 398053
DisorderType: Disease
Name: Squamous cell carcinoma of the penis
OrphaCode: 398058
DisorderType: Disease
Name: Tumor of endocrine glands
OrphaCode: 182130
DisorderType: Category
Children: Name: Neuroendocrine neoplasm
OrphaCode: 877
DisorderType: Category
Children: Name: Carcinoid syndrome
OrphaCode: 100093
DisorderType: Clinical syndrome
Name: Gastroenteropancreatic neuroendocrine neoplasm
OrphaCode: 100092
DisorderType: Category
Children: Name: Neuroendocrine neoplasm of pancreas
OrphaCode: 506052
DisorderType: Category
Children: Name: Neuroendocrine tumor of pancreas
OrphaCode: 97253
DisorderType: Category
Children: Name: Functioning neuroendocrine tumor of pancreas
OrphaCode: 506060
DisorderType: Category
Children: Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: GRFoma
OrphaCode: 97261
DisorderType: Disease
Name: PPoma
OrphaCode: 97278
DisorderType: Disease
Name: Insulinoma
OrphaCode: 97279
DisorderType: Disease
Name: Glucagonoma
OrphaCode: 97280
DisorderType: Disease
Name: VIPoma
OrphaCode: 97282
DisorderType: Disease
Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Serotonin-producing neuroendocrine tumor of pancreas
OrphaCode: 506090
DisorderType: Disease
Name: Non-functioning neuroendocrine tumor of pancreas
OrphaCode: 506075
DisorderType: Disease
Name: Neuroendocrine carcinoma of pancreas
OrphaCode: 506098
DisorderType: Disease
Name: Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
OrphaCode: 506112
DisorderType: Disease
Name: Gastroenteric neuroendocrine neoplasm
OrphaCode: 481508
DisorderType: Category
Children: Name: Neuroendocrine tumor of stomach
OrphaCode: 100075
DisorderType: Disease
Name: Neuroendocrine neoplasm of appendix
OrphaCode: 100079
DisorderType: Disease
Children: Name: Classic neuroendocrine tumor of appendix
OrphaCode: 329977
DisorderType: Clinical subtype
Name: Goblet cell carcinoma
OrphaCode: 329984
DisorderType: Clinical subtype
Name: Neuroendocrine tumor of the colon
OrphaCode: 100080
DisorderType: Disease
Name: Neuroendocrine tumor of the rectum
OrphaCode: 100081
DisorderType: Disease
Name: Neuroendocrine tumor of anal canal
OrphaCode: 100082
DisorderType: Disease
Name: Neuroendocrine tumor of the small intestine
OrphaCode: 423975
DisorderType: Category
Children: Name: Duodenal neuroendocrine tumor
OrphaCode: 100076
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: Jejunal neuroendocrine tumor
OrphaCode: 100077
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Ileal neuroendocrine tumor
OrphaCode: 100078
DisorderType: Disease
Name: Neuroendocrine neoplasm of esophagus
OrphaCode: 506136
DisorderType: Disease
Name: Neuroendocrine tumor with other location
OrphaCode: 100101
DisorderType: Category
Children: Name: Cutaneous neuroendocrine carcinoma
OrphaCode: 79140
DisorderType: Disease
Name: Bronchial neuroendocrine tumor
OrphaCode: 97287
DisorderType: Disease
Name: Laryngeal neuroendocrine tumor
OrphaCode: 100083
DisorderType: Disease
Name: Middle ear neuroendocrine tumor
OrphaCode: 100084
DisorderType: Disease
Name: Primary hepatic neuroendocrine carcinoma
OrphaCode: 100085
DisorderType: Disease
Name: Gallbladder neuroendocrine tumor
OrphaCode: 100086
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the corpus uteri
OrphaCode: 213731
DisorderType: Disease
Name: Thymic neuroendocrine tumor
OrphaCode: 97289
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the cervix uteri
OrphaCode: 213777
DisorderType: Disease
Name: Thymic neuroendocrine carcinoma
OrphaCode: 99869
DisorderType: Disease
Children: Name: Well-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263331
DisorderType: Histopathological subtype
Name: Moderately-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263335
DisorderType: Histopathological subtype
Name: Poorly differentiated thymic neuroendocrine carcinoma
OrphaCode: 263339
DisorderType: Histopathological subtype
Name: Small cell carcinoma of the bladder
OrphaCode: 284400
DisorderType: Disease
Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Rare thyroid tumor
OrphaCode: 100087
DisorderType: Category
Children: Name: Thyroid lymphoma
OrphaCode: 97285
DisorderType: Disease
Name: Rare thyroid carcinoma
OrphaCode: 100088
DisorderType: Category
Children: Name: Familial medullary thyroid carcinoma
OrphaCode: 99361
DisorderType: Disease
Name: Differentiated thyroid carcinoma
OrphaCode: 146
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Anaplastic thyroid carcinoma
OrphaCode: 142
DisorderType: Disease
Name: Medullary thyroid carcinoma
OrphaCode: 1332
DisorderType: Disease
Name: Familial nonmedullary thyroid carcinoma
OrphaCode: 319494
DisorderType: Clinical group
Children: Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Familial papillary or follicular thyroid carcinoma
OrphaCode: 319487
DisorderType: Disease
Name: Rare parathyroid tumor
OrphaCode: 100090
DisorderType: Category
Children: Name: Familial primary hyperparathyroidism
OrphaCode: 2207
DisorderType: Clinical group
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Familial isolated hyperparathyroidism
OrphaCode: 99879
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Parathyroid carcinoma
OrphaCode: 143
DisorderType: Disease
Name: Adrenal/paraganglial tumor
OrphaCode: 100091
DisorderType: Category
Children: Name: Adrenocortical carcinoma
OrphaCode: 1501
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Pituitary dermoid and epidermoid cysts
OrphaCode: 91351
DisorderType: Disease
Name: Rare adrenocortical nodular disease
OrphaCode: 649017
DisorderType: Clinical group
Children: Name: Isolated primary pigmented nodular adrenocortical disease
OrphaCode: 647772
DisorderType: Disease
Name: Isolated micronodular adrenocortical disease
OrphaCode: 647782
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Pheochromocytoma-paraganglioma
OrphaCode: 573163
DisorderType: Clinical group
Children: Name: Multiple paragangliomas associated with polycythemia
OrphaCode: 324299
DisorderType: Disease
Name: Hereditary pheochromocytoma-paraganglioma
OrphaCode: 29072
DisorderType: Disease
Name: Sporadic pheochromocytoma/secreting paraganglioma
OrphaCode: 276621
DisorderType: Disease
Name: Non-functioning paraganglioma
OrphaCode: 94080
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Multiple polyglandular tumor
OrphaCode: 100094
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Carney-Stratakis syndrome
OrphaCode: 97286
DisorderType: Disease
Name: Carney triad
OrphaCode: 139411
DisorderType: Disease
Name: Multiple endocrine neoplasia
OrphaCode: 276161
DisorderType: Clinical group
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 4
OrphaCode: 276152
DisorderType: Disease
Name: Pituitary tumor
OrphaCode: 304055
DisorderType: Category
Children: Name: Pituitary adenoma
OrphaCode: 99408
DisorderType: Clinical group
Children: Name: Non-functioning pituitary adenoma
OrphaCode: 91349
DisorderType: Disease
Children: Name: Silent pituitary adenoma
OrphaCode: 314786
DisorderType: Histopathological subtype
Name: Null pituitary adenoma
OrphaCode: 314790
DisorderType: Histopathological subtype
Name: Functioning pituitary adenoma
OrphaCode: 314753
DisorderType: Clinical group
Children: Name: Prolactinoma
OrphaCode: 2965
DisorderType: Disease
Name: TSH-secreting pituitary adenoma
OrphaCode: 91347
DisorderType: Disease
Name: Functioning gonadotropic adenoma
OrphaCode: 91348
DisorderType: Disease
Name: Cushing disease
OrphaCode: 96253
DisorderType: Disease
Name: Somatotropic adenoma
OrphaCode: 96256
DisorderType: Clinical group
Children: Name: Acromegaly
OrphaCode: 963
DisorderType: Disease
Name: Pituitary gigantism
OrphaCode: 99725
DisorderType: Disease
Name: Nelson syndrome
OrphaCode: 199244
DisorderType: Clinical syndrome
Name: Mixed functioning pituitary adenoma
OrphaCode: 314759
DisorderType: Category
Children: Name: Somatomammotropinoma
OrphaCode: 314769
DisorderType: Disease
Name: Familial isolated pituitary adenoma
OrphaCode: 314777
DisorderType: Disease
Name: Pituitary carcinoma
OrphaCode: 300385
DisorderType: Disease
Name: Rare vascular tumor
OrphaCode: 211237
DisorderType: Category
Children: Name: Malignant vascular tumor
OrphaCode: 673466
DisorderType: Clinical group
Children: Name: Epithelioid hemangioendothelioma
OrphaCode: 157791
DisorderType: Disease
Name: Angiosarcoma
OrphaCode: 263413
DisorderType: Disease
Name: Benign vascular tumor
OrphaCode: 673470
DisorderType: Clinical group
Children: Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Tufted angioma
OrphaCode: 1063
DisorderType: Disease
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Spindle cell hemangioma
OrphaCode: 210584
DisorderType: Disease
Name: Congenital hemangioma
OrphaCode: 458775
DisorderType: Clinical group
Children: Name: Non-involuting congenital hemangioma
OrphaCode: 141179
DisorderType: Disease
Name: Partially involuting congenital hemangioma
OrphaCode: 458785
DisorderType: Disease
Name: Rapidly involuting congenital hemangioma
OrphaCode: 141184
DisorderType: Disease
Name: Anastomosing haemangioma
OrphaCode: 675359
DisorderType: Disease
Name: Acquired elastotic haemangioma
OrphaCode: 675597
DisorderType: Disease
Name: Hobnail hemangioma
OrphaCode: 675362
DisorderType: Disease
Name: Microvenular haemangioma
OrphaCode: 675369
DisorderType: Disease
Name: Epithelioid hemangioma
OrphaCode: 675396
DisorderType: Disease
Name: Papillary hemangioma
OrphaCode: 673543
DisorderType: Disease
Name: Reactive angioendotheliomatosis
OrphaCode: 673574
DisorderType: Disease
Name: Eccrine angiomatous hamartoma
OrphaCode: 673568
DisorderType: Disease
Name: Littoral cell hemangioma of the spleen
OrphaCode: 673538
DisorderType: Disease
Name: Intravascular papillary endothelial hyperplasia
OrphaCode: 673525
DisorderType: Disease
Name: Rare infantile hemangioma
OrphaCode: 210589
DisorderType: Clinical group
Children: Name: Multifocal infantile hemangioma with extracutenous involvement
OrphaCode: 2123
DisorderType: Malformation syndrome
Name: Airway infantile hemangioma
OrphaCode: 137935
DisorderType: Disease
Name: Isolated segmental infantile hemangioma
OrphaCode: 675380
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Borderline vascular tumor
OrphaCode: 673473
DisorderType: Clinical group
Children: Name: Kaposiform hemangioendothelioma
OrphaCode: 2122
DisorderType: Disease
Name: Kaposi sarcoma
OrphaCode: 33276
DisorderType: Disease
Name: Composite hemangioendothelioma
OrphaCode: 458758
DisorderType: Disease
Name: Retiform hemangioendothelioma
OrphaCode: 458763
DisorderType: Disease
Name: Papillary intralymphatic angioendothelioma
OrphaCode: 458768
DisorderType: Disease
Name: Pseudomyogenic hemangioendothelioma
OrphaCode: 673556
DisorderType: Disease
Name: Rare virus associated tumor
OrphaCode: 289635
DisorderType: Category
Children: Name: Cutaneous neuroendocrine carcinoma
OrphaCode: 79140
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Human herpesvirus 8-related disorder
OrphaCode: 102024
DisorderType: Category
Children: Name: HHV-8-associated multicentric Castleman disease
OrphaCode: 570438
DisorderType: Clinical subtype
Name: Kaposi sarcoma
OrphaCode: 33276
DisorderType: Disease
Name: Primary effusion lymphoma
OrphaCode: 48686
DisorderType: Disease
Name: Epstein-Barr Virus-related tumor
OrphaCode: 289638
DisorderType: Category
Children: Name: Epstein-Barr virus-associated malignant lymphoproliferative disorder
OrphaCode: 289644
DisorderType: Category
Children: Name: Burkitt lymphoma
OrphaCode: 543
DisorderType: Disease
Name: Primary central nervous system lymphoma
OrphaCode: 46135
DisorderType: Disease
Name: Primary effusion lymphoma
OrphaCode: 48686
DisorderType: Disease
Name: Post-transplant lymphoproliferative disease
OrphaCode: 70568
DisorderType: Disease
Name: Lymphomatoid granulomatosis
OrphaCode: 86869
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Hodgkin lymphoma
OrphaCode: 98293
DisorderType: Clinical group
Children: Name: Classic Hodgkin lymphoma
OrphaCode: 391
DisorderType: Disease
Children: Name: Classic Hodgkin lymphoma, nodular sclerosis type
OrphaCode: 98843
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, mixed cellularity type
OrphaCode: 98844
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, lymphocyte-rich type
OrphaCode: 98845
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, lymphocyte-depleted type
OrphaCode: 98846
DisorderType: Histopathological subtype
Name: Nodular lymphocyte predominant Hodgkin lymphoma
OrphaCode: 86893
DisorderType: Disease
Name: Epstein-Barr virus-positive diffuse large B-cell lymphoma
OrphaCode: 289661
DisorderType: Disease
Name: Plasmablastic lymphoma
OrphaCode: 289666
DisorderType: Disease
Name: Diffuse large B-cell lymphoma with chronic inflammation
OrphaCode: 300888
DisorderType: Disease
Name: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
OrphaCode: 364033
DisorderType: Disease
Name: Hydroa vacciniforme-like lymphoma
OrphaCode: 364039
DisorderType: Disease
Name: Epstein-Barr Virus-associated carcinoma
OrphaCode: 289651
DisorderType: Category
Children: Name: Nasopharyngeal carcinoma
OrphaCode: 150
DisorderType: Disease
Name: Lymphoepithelial-like carcinoma
OrphaCode: 289682
DisorderType: Disease
Name: Epstein-Barr virus-associated gastric carcinoma
OrphaCode: 313920
DisorderType: Disease
Name: Epstein-Barr Virus-associated mesenchymal tumor
OrphaCode: 289656
DisorderType: Category
Children: Name: Leiomyosarcoma
OrphaCode: 64720
DisorderType: Disease
Name: Follicular dendritic cell sarcoma
OrphaCode: 86902
DisorderType: Disease
Name: Myopericytoma
OrphaCode: 289685
DisorderType: Disease
Name: HIV-associated cancer
OrphaCode: 443291
DisorderType: Particular clinical situation in a disease or syndrome
Name: Rare head and neck tumor
OrphaCode: 290849
DisorderType: Category
Children: Name: Rare tumor of salivary glands
OrphaCode: 276142
DisorderType: Category
Children: Name: Malignant epithelial tumor of salivary glands
OrphaCode: 276145
DisorderType: Disease
Children: Name: Squamous cell carcinoma of salivary glands
OrphaCode: 500481
DisorderType: Histopathological subtype
Name: Benign epithelial tumor of salivary glands
OrphaCode: 276148
DisorderType: Disease
Children: Name: Pleomorphic salivary gland adenoma
OrphaCode: 454821
DisorderType: Histopathological subtype
Name: Rare odontogenic tumor
OrphaCode: 314425
DisorderType: Category
Children: Name: Ameloblastoma
OrphaCode: 314419
DisorderType: Disease
Name: Ameloblastic carcinoma
OrphaCode: 314422
DisorderType: Disease
Name: Keratocystic odontogenic tumor
OrphaCode: 447777
DisorderType: Disease
Name: Intraoral basal cell carcinoma
OrphaCode: 667678
DisorderType: Disease
Name: Rare otorhinolaryngologic tumor
OrphaCode: 98061
DisorderType: Category
Children: Name: Squamous cell carcinoma of the nasal cavity and paranasal sinuses
OrphaCode: 500464
DisorderType: Disease
Name: Squamous cell carcinoma of the oropharynx
OrphaCode: 500478
DisorderType: Disease
Name: Squamous cell carcinoma of oral cavity and lip
OrphaCode: 502369
DisorderType: Category
Children: Name: Squamous cell carcinoma of the lip
OrphaCode: 502366
DisorderType: Disease
Name: Squamous cell carcinoma of the oral cavity
OrphaCode: 502363
DisorderType: Disease
Name: Nasopharyngeal carcinoma
OrphaCode: 150
DisorderType: Disease
Name: Laryngeal neuroendocrine tumor
OrphaCode: 100083
DisorderType: Disease
Name: Middle ear neuroendocrine tumor
OrphaCode: 100084
DisorderType: Disease
Name: Epignathus
OrphaCode: 141077
DisorderType: Clinical subtype
Name: Nasopharyngeal teratoma
OrphaCode: 141107
DisorderType: Clinical subtype
Name: Nasal glial heterotopia
OrphaCode: 141112
DisorderType: Disease
Name: Nasal ganglioglioma
OrphaCode: 141115
DisorderType: Disease
Name: Juvenile nasopharyngeal angiofibroma
OrphaCode: 289596
DisorderType: Disease
Name: Squamous cell carcinoma of the hypopharynx
OrphaCode: 494547
DisorderType: Disease
Name: Squamous cell carcinoma of the larynx
OrphaCode: 494550
DisorderType: Disease
Name: Vestibular schwannoma
OrphaCode: 252175
DisorderType: Clinical subtype
Name: NUT midline carcinoma
OrphaCode: 443167
DisorderType: Disease
Name: Rare andrological tumor
OrphaCode: 626609
DisorderType: Category
Children: Name: Hereditary breast cancer
OrphaCode: 227535
DisorderType: Disease
Name: Tumor of testis and paratestis
OrphaCode: 363472
DisorderType: Category
Children: Name: Paratesticular adenocarcinoma
OrphaCode: 363478
DisorderType: Disease
Name: Testicular teratoma
OrphaCode: 363483
DisorderType: Disease
Name: Sex cord-stromal tumor of testis
OrphaCode: 363489
DisorderType: Disease
Name: Germ cell tumor of testis
OrphaCode: 363504
DisorderType: Category
Children: Name: Testicular seminomatous germ cell tumor
OrphaCode: 842
DisorderType: Disease
Name: Spermatocytic seminoma
OrphaCode: 99865
DisorderType: Disease
Name: Non-seminomatous germ cell tumor of testis
OrphaCode: 363494
DisorderType: Disease
Name: Gonadoblastoma
OrphaCode: 206484
DisorderType: Disease
Name: Malignant tumor of penis
OrphaCode: 398043
DisorderType: Category
Children: Name: Adenocarcinoma of the penis
OrphaCode: 398053
DisorderType: Disease
Name: Squamous cell carcinoma of the penis
OrphaCode: 398058
DisorderType: Disease
Name: Cancer of unknown primary site
OrphaCode: 631251
DisorderType: Disease
Name: Inherited cancer-predisposing syndrome
OrphaCode: 140162
DisorderType: Category
Children: Name: Melanoma and neural system tumor syndrome
OrphaCode: 252206
DisorderType: Disease
Name: Rhabdoid tumor predisposition syndrome
OrphaCode: 231108
DisorderType: Disease
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: Common variable immunodeficiency
OrphaCode: 1572
DisorderType: Disease
Name: Kostmann syndrome
OrphaCode: 99749
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Polymalformative genetic syndrome with increased risk of developing cancer
OrphaCode: 183422
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Bazex syndrome
OrphaCode: 166113
DisorderType: Disease
Name: Cernunnos-XLF deficiency
OrphaCode: 169079
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Warsaw breakage syndrome
OrphaCode: 280558
DisorderType: Malformation syndrome
Name: Oligodontia-cancer predisposition syndrome
OrphaCode: 300576
DisorderType: Disease
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Familial multinodular goiter
OrphaCode: 276399
DisorderType: Disease
Name: BAP1-related tumor predisposition syndrome
OrphaCode: 289539
DisorderType: Disease
Name: MITF-related melanoma and renal cell carcinoma predisposition syndrome
OrphaCode: 293822
DisorderType: Disease
Name: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
OrphaCode: 313846
DisorderType: Disease
Name: Inherited renal cancer-predisposing syndrome
OrphaCode: 319328
DisorderType: Category
Children: Name: Hereditary papillary renal cell carcinoma
OrphaCode: 47044
DisorderType: Disease
Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
OrphaCode: 319462
DisorderType: Disease
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Hereditary clear cell renal cell carcinoma
OrphaCode: 422526
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Inherited digestive cancer-predisposing syndrome
OrphaCode: 425003
DisorderType: Category
Children: Name: Familial medullary thyroid carcinoma
OrphaCode: 99361
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Intestinal polyposis syndrome
OrphaCode: 104010
DisorderType: Clinical group
Children: Name: Familial adenomatous polyposis
OrphaCode: 733
DisorderType: Disease
Children: Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Juvenile polyposis syndrome
OrphaCode: 2929
DisorderType: Disease
Children: Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Generalized juvenile polyposis/juvenile polyposis coli
OrphaCode: 329971
DisorderType: Clinical subtype
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Cronkhite-Canada syndrome
OrphaCode: 2930
DisorderType: Disease
Name: Hereditary mixed polyposis syndrome
OrphaCode: 157794
DisorderType: Disease
Name: Serrated polyposis syndrome
OrphaCode: 157798
DisorderType: Disease
Name: Attenuated familial adenomatous polyposis
OrphaCode: 220460
DisorderType: Disease
Children: Name: MUTYH-related attenuated familial adenomatous polyposis
OrphaCode: 247798
DisorderType: Clinical subtype
Name: APC-related attenuated familial adenomatous polyposis
OrphaCode: 247806
DisorderType: Clinical subtype
Name: AXIN2-related attenuated familial adenomatous polyposis
OrphaCode: 401911
DisorderType: Clinical subtype
Name: MSH3-related attenuated familial adenomatous polyposis
OrphaCode: 480536
DisorderType: Clinical subtype
Name: Polymerase proofreading-related adenomatous polyposis
OrphaCode: 447877
DisorderType: Clinical subtype
Name: NTHL1-related attenuated familial adenomatous polyposis
OrphaCode: 454840
DisorderType: Clinical subtype
Name: Hereditary nonpolyposis colon cancer
OrphaCode: 443909
DisorderType: Clinical group
Children: Name: Lynch syndrome
OrphaCode: 144
DisorderType: Disease
Name: Familial colorectal cancer Type X
OrphaCode: 440437
DisorderType: Disease
Name: Hereditary neuroendocrine tumor of small intestine
OrphaCode: 456333
DisorderType: Disease
Name: Combined immunodeficiency due to OX40 deficiency
OrphaCode: 431149
DisorderType: Disease
Name: Progeroid features-hepatocellular carcinoma predisposition syndrome
OrphaCode: 435953
DisorderType: Disease
Name: DICER1 tumor-predisposition syndrome
OrphaCode: 284343
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Palmoplantar keratoderma-esophageal carcinoma syndrome
OrphaCode: 2198
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: MBD4-related tumor predisposition syndrome
OrphaCode: 661526
DisorderType: Disease
Name: Inherited cancer-predisposing lymphoproliferative syndrome
OrphaCode: 664450
DisorderType: Category
Children: Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to SAP deficiency
OrphaCode: 538931
DisorderType: Disease
Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: FADD-related immunodeficiency
OrphaCode: 306550
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: Dianzani autoimmune lymphoproliferative disease
OrphaCode: 275523
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to PRKCD deficiency
OrphaCode: 664711
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
OrphaCode: 664699
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to CD137 deficiency
OrphaCode: 664726
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to TET2 deficiency
OrphaCode: 664729
DisorderType: Disease
Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: Neurofibromatosis/schwannomatosis
OrphaCode: 634518
DisorderType: Category
Children: Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Mosaic neurofibromatosis type 1
OrphaCode: 634461
DisorderType: Disease
Name: Mosaic NF2-related schwannomatosis
OrphaCode: 634475
DisorderType: Disease
Name: Mosaic schwannomatosis
OrphaCode: 634492
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Inherited gynecological cancer-predisposing syndrome
OrphaCode: 589746
DisorderType: Category
Children: Name: Hereditary nonpolyposis colon cancer
OrphaCode: 443909
DisorderType: Clinical group
Children: Name: Lynch syndrome
OrphaCode: 144
DisorderType: Disease
Name: Familial colorectal cancer Type X
OrphaCode: 440437
DisorderType: Disease
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Inherited hematologic cancer-predisposing syndrome
OrphaCode: 619340
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Familial platelet disorder with associated myeloid malignancy
OrphaCode: 71290
DisorderType: Disease
Name: Inherited acute myeloid leukemia
OrphaCode: 319465
DisorderType: Disease
Name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
OrphaCode: 585877
DisorderType: Etiological subtype
Children: Name: B-lymphoblastic leukemia/lymphoma with t(17;19)
OrphaCode: 641375
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
OrphaCode: 585909
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
OrphaCode: 585918
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
OrphaCode: 585929
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
OrphaCode: 585936
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
OrphaCode: 585942
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
OrphaCode: 585948
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
OrphaCode: 585956
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
OrphaCode: 641372
DisorderType: Etiological subtype
Name: Li-Fraumeni syndrome
OrphaCode: 524
DisorderType: Disease
Name: DDX41-related hematologic malignancy predisposition syndrome
OrphaCode: 488647
DisorderType: Disease