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CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
162973
Orphanet classification of rare neoplastic diseases
250908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250908
Rare neoplastic disease
Category
98057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98057
Rare tumor
Category
3399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399
Germ cell tumor
Category
363579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579
Extragonadal germ cell tumor
Category
99913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99913
Extragonadal non-dysgerminomatous germ cell tumor
Category
876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876
Yolk sac tumor
Disease
252006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006
Yolk sac tumor of central nervous system
Clinical subtype
883
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883
Extragonadal teratoma
Disease
141077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077
Epignathus
Clinical subtype
141107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107
Nasopharyngeal teratoma
Clinical subtype
252018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018
Teratoma of the central nervous system
Clinical subtype
494421
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421
Sacrococcygeal teratoma
Clinical subtype
99926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926
Gestational choriocarcinoma
Disease
180226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226
Embryonal carcinoma
Disease
48736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736
Embryonal carcinoma of the central nervous system
Clinical subtype
289362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362
Non-central nervous system-localized embryonal carcinoma
Clinical subtype
180229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229
Polyembryoma
Disease
180234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234
Mixed germ cell tumor
Disease
252021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021
Mixed germ cell tumor of central nervous system
Clinical subtype
314613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613
Growing teratoma syndrome
Particular clinical situation in a disease or syndrome
182127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127
Extragonadal germinoma
Disease
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
251995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995
Primary germ cell tumor of central nervous system
Category
48736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736
Embryonal carcinoma of the central nervous system
Clinical subtype
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
252006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006
Yolk sac tumor of central nervous system
Clinical subtype
252015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015
Choriocarcinoma of the central nervous system
Disease
252018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018
Teratoma of the central nervous system
Clinical subtype
252021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021
Mixed germ cell tumor of central nervous system
Clinical subtype
363582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582
Gonadal germ cell tumor
Category
35807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807
Malignant germ cell tumor of ovary
Category
99912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912
Ovarian dysgerminoma
Disease
206538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538
Malignant non-dysgerminomatous germ cell tumor of ovary
Disease
289356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356
Primary non-gestational choriocarcinoma of ovary
Disease
363504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504
Germ cell tumor of testis
Category
842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842
Testicular seminomatous germ cell tumor
Disease
99865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865
Spermatocytic seminoma
Disease
363494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494
Non-seminomatous germ cell tumor of testis
Disease
68347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68347
Tumor of hematopoietic and lymphoid tissues
Category
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
98292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292
Mastocytosis
Category
2467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467
Systemic mastocytosis
Clinical group
98848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848
Indolent systemic mastocytosis
Disease
98849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849
Systemic mastocytosis with associated hematologic neoplasm
Disease
98850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850
Aggressive systemic mastocytosis
Disease
98851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851
Mast cell leukemia
Disease
566393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393
Acute mast cell leukemia
Clinical subtype
566396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396
Chronic mast cell leukemia
Clinical subtype
158775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775
Smoldering systemic mastocytosis
Disease
158778
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778
Isolated bone marrow mastocytosis
Disease
66646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646
Cutaneous mastocytosis
Clinical group
79455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455
Cutaneous mastocytoma
Disease
79456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456
Diffuse cutaneous mastocytosis
Disease
280785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785
Bullous diffuse cutaneous mastocytosis
Clinical subtype
280794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794
Pseudoxanthomatous diffuse cutaneous mastocytosis
Clinical subtype
79457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457
Maculopapular cutaneous mastocytosis
Disease
90389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389
Telangiectasia macularis eruptiva perstans
Clinical subtype
158766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766
Typical urticaria pigmentosa
Clinical subtype
158769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769
Plaque-form urticaria pigmentosa
Clinical subtype
158772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772
Nodular urticaria pigmentosa
Clinical subtype
66661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661
Mast cell sarcoma
Disease
66662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662
Extracutaneous mastocytoma
Disease
171895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895
Myeloid hemopathy
Category
519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519
Acute myeloid leukemia
Clinical group
86845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845
Acute myeloid leukaemia with myelodysplasia-related features
Disease
86846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Category
102379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Disease
102381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Disease
164726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Disease
86851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851
Acute leukemia of ambiguous lineage
Category
530995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995
Mixed phenotype acute leukemia
Disease
589534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Etiological subtype
589595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595
Mixed phenotype acute leukemia with t(v;11q23.3)
Etiological subtype
98835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835
Acute undifferentiated leukemia
Disease
98277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277
Acute myeloid leukemia with recurrent genetic anomaly
Category
520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520
Acute promyelocytic leukemia
Disease
98829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Disease
98831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831
Acute myeloid leukemia with 11q23 abnormalities
Disease
102724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Disease
319480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480
Acute myeloid leukemia with CEBPA somatic mutations
Disease
370026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Disease
402014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014
Acute myeloid leukemia with t(6;9)(p23;q34)
Disease
402017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017
Acute myeloid leukemia with t(9;11)(p22;q23)
Disease
402020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Disease
402023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Disease
402026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026
Acute myeloid leukemia with NPM1 somatic mutations
Disease
585867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Disease
167714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714
Unclassified acute myeloid leukemia
Category
514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514
Acute monoblastic/monocytic leukemia
Disease
318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318
Acute erythroid leukemia
Disease
518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518
Acute megakaryoblastic leukemia
Disease
99887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887
Acute megakaryoblastic leukemia in Down syndrome
Clinical subtype
329469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469
Acute megakaryoblastic leukemia without Down syndrome
Clinical subtype
86843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843
Acute panmyelosis with myelofibrosis
Disease
86849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849
Acute basophilic leukemia
Disease
86850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850
Myeloid sarcoma
Disease
98832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832
Acute myeloid leukemia with minimal differentiation
Disease
98833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833
Acute myeloblastic leukemia without maturation
Disease
98834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834
Acute myeloblastic leukemia with maturation
Disease
517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517
Acute myelomonocytic leukemia
Disease
319465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465
Inherited acute myeloid leukemia
Disease
52688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688
Myelodysplastic syndrome
Clinical group
75564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564
Acquired idiopathic sideroblastic anemia
Disease
86836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836
Refractory cytopenia with multilineage dysplasia
Clinical group
98826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826
Refractory anemia
Disease
98827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827
Unclassified myelodysplastic syndrome
Disease
101096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101096
Aregenerative anemia
Disease
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
86839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839
Refractory anemia with excess blasts
Disease
100019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019
Refractory anemia with excess blasts type 1
Clinical subtype
100020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020
Refractory anemia with excess blasts type 2
Clinical subtype
86841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Disease
168960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960
Refractory anemia with excess blasts in transformation
Disease
495930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930
Familial monosomy 7 syndrome
Disease
98274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274
Myeloproliferative neoplasm
Clinical group
488280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280
14q32 duplication syndrome
Disease
3318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318
Essential thrombocythemia
Disease
521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521
Chronic myeloid leukemia
Disease
824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Primary myelofibrosis
Disease
729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729
Polycythemia vera
Disease
86829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829
Chronic neutrophilic leukemia
Disease
86830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830
Chronic myeloproliferative disease, unclassifiable
Disease
168940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940
Chronic eosinophilic leukemia
Disease
168956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956
Hypereosinophilic syndrome
Clinical group
3260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260
Idiopathic hypereosinophilic syndrome
Disease
314950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950
Primary hypereosinophilic syndrome
Disease
314962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962
Secondary hypereosinophilic syndrome
Disease
314970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970
Lymphocytic hypereosinophilic syndrome
Clinical subtype
420611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611
Transient myeloproliferative syndrome
Disease
480851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851
Hereditary thrombocytopenia with early-onset myelofibrosis
Disease
98275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275
Myelodysplastic/myeloproliferative disease
Clinical group
86834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834
Juvenile myelomonocytic leukemia
Disease
98823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823
Chronic myelomonocytic leukemia
Disease
98824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824
Atypical chronic myeloid leukemia
Disease
98825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825
Unclassified myelodysplastic/myeloproliferative disease
Disease
168943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
Category
168947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Disease
168950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Disease
168953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Disease
589542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Disease
171898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898
Lymphoid hemopathy
Category
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
98282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282
Plasma cell tumor
Category
2905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905
POEMS syndrome
Disease
29073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073
Multiple myeloma
Disease
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
86855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855
Plasmacytoma
Disease
100021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021
Primary plasmacytoma of the bone
Clinical subtype
100022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022
Extramedullary soft tissue plasmacytoma
Clinical subtype
86861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861
Non-amyloid monoclonal immunoglobulin deposition disease
Disease
93556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556
Heavy chain deposition disease
Clinical subtype
93557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557
Light and heavy chain deposition disease
Clinical subtype
93558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558
Light chain deposition disease
Clinical subtype
86864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864
Heavy chain disease
Disease
100024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024
Mu-heavy chain disease
Clinical subtype
100025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025
Alpha-heavy chain disease
Clinical subtype
100026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026
Gamma-heavy chain disease
Clinical subtype
454714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714
Plasma cell leukemia
Disease
98287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287
Histiocytic and dendritic cell tumor
Category
98288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288
Macrophage or histiocytic tumor
Category
86896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896
Histiocytic sarcoma
Disease
98289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289
Dendritic cell tumor
Category
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
86897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897
Langerhans cell sarcoma
Disease
86900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900
Interdigitating dendritic cell sarcoma
Disease
86903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903
Dendritic cell sarcoma not otherwise specified
Disease
158019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019
Indeterminate cell histiocytosis
Disease
98290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290
Immunodeficiency-associated lymphoproliferative disease
Category
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
86904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904
Methotrexate-associated lymphoproliferative disorders
Disease
98291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291
Lymphoproliferative disease associated with primary immune disease
Category
223735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735
Lymphoma
Category
547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547
Non-Hodgkin lymphoma
Category
513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513
Acute lymphoblastic leukemia
Clinical group
99860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860
Precursor B-cell acute lymphoblastic leukemia
Disease
585877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Etiological subtype
641375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375
B-lymphoblastic leukemia/lymphoma with t(17;19)
Etiological subtype
585909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Etiological subtype
585918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Etiological subtype
585929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Etiological subtype
585936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Etiological subtype
585942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Etiological subtype
585948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Etiological subtype
585956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Etiological subtype
641372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
Etiological subtype
99861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861
Precursor T-cell acute lymphoblastic leukemia
Disease
171915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915
B-cell non-Hodgkin lymphoma
Category
300842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842
Indolent B-cell non-Hodgkin lymphoma
Category
545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545
Follicular lymphoma
Disease
33226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226
Waldenström macroglobulinemia
Disease
58017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017
Classic hairy cell leukemia
Disease
67038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038
B-cell chronic lymphocytic leukemia
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
300878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878
Hairy cell leukemia variant
Disease
300912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912
Marginal zone lymphoma
Clinical group
52417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417
MALT lymphoma
Disease
86854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854
Splenic marginal zone lymphoma
Disease
86867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867
Nodal marginal zone B-cell lymphoma
Disease
300869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869
Splenic diffuse red pulp small B-cell lymphoma
Disease
443159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159
Lymphoplasmacytic lymphoma without IgM production
Disease
300846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846
Aggressive B-cell non-Hodgkin lymphoma
Category
543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543
Burkitt lymphoma
Disease
544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544
Diffuse large B-cell lymphoma
Clinical group
86869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869
Lymphomatoid granulomatosis
Disease
98838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838
Primary mediastinal large B-cell lymphoma
Disease
98839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839
Intravascular large B-cell lymphoma
Disease
289661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
Disease
300849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849
Diffuse large B-cell lymphoma of the central nervous system
Disease
300857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857
T-cell/histiocyte rich large B cell lymphoma
Disease
300888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888
Diffuse large B-cell lymphoma with chronic inflammation
Disease
364043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043
ALK-positive large B-cell lymphoma
Disease
48686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686
Primary effusion lymphoma
Disease
52416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416
Mantle cell lymphoma
Disease
86852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852
B-cell prolymphocytic leukemia
Disease
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
289666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666
Plasmablastic lymphoma
Disease
480541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Disease
171918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918
T-cell non-Hodgkin lymphoma
Category
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
86870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870
Blastic plasmacytoid dendritic cell neoplasm
Disease
86871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871
T-cell prolymphocytic leukemia
Disease
86880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880
Enteropathy-associated T-cell lymphoma
Disease
86882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882
Hepatosplenic T-cell lymphoma
Disease
86886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886
Angioimmunoblastic T-cell lymphoma
Disease
98841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841
Anaplastic large cell lymphoma
Disease
300895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895
ALK-positive anaplastic large cell lymphoma
Histopathological subtype
300903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903
ALK-negative anaplastic large cell lymphoma
Histopathological subtype
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
364033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Disease
364039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039
Hydroa vacciniforme-like lymphoma
Disease
652658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658
Monomorphic epitheliotropic intestinal T-cell lymphoma
Disease
512034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034
Large granular lymphocyte leukemia
Clinical group
86872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872
T-cell large granular lymphocyte leukemia
Disease
86873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873
Aggressive NK-cell leukemia
Disease
512017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017
Chronic lymphoproliferative disorder of natural killer cells
Disease
652650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650
Nodal T-follicular helper cell lymphoma, follicular type
Disease
98293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293
Hodgkin lymphoma
Clinical group
391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391
Classic Hodgkin lymphoma
Disease
98843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843
Classic Hodgkin lymphoma, nodular sclerosis type
Histopathological subtype
98844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844
Classic Hodgkin lymphoma, mixed cellularity type
Histopathological subtype
98845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845
Classic Hodgkin lymphoma, lymphocyte-rich type
Histopathological subtype
98846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846
Classic Hodgkin lymphoma, lymphocyte-depleted type
Histopathological subtype
86893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893
Nodular lymphocyte predominant Hodgkin lymphoma
Disease
168966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966
Composite lymphoma
Disease
279911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911
Primary organ-specific lymphoma
Category
2420
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420
Primary pulmonary lymphoma
Disease
542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542
Primary cutaneous lymphoma
Category
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
178563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563
Primary cutaneous B-cell lymphoma
Category
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
46135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135
Primary central nervous system lymphoma
Disease
97285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285
Thyroid lymphoma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
279904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904
Primary intraocular lymphoma
Disease
314684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684
Primary bone lymphoma
Disease
319667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667
Primary lymphoma of the conjunctiva
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
300324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324
Persistent polyclonal B-cell lymphocytosis
Disease
160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160
Castleman disease
Disease
93685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685
Unicentric Castleman disease
Clinical subtype
570438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438
HHV-8-associated multicentric Castleman disease
Clinical subtype
570431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431
Idiopathic multicentric Castleman disease
Clinical subtype
529468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468
Monoclonal mast cell activation syndrome
Disease
68411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68411
Rare bone tumor
Category
178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Chordoma
Disease
480553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553
Aneurysmal bone cyst
Disease
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
2760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
OSLAM syndrome
Malformation syndrome
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
55881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881
Adamantinoma
Disease
58040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040
Osteoblastoma
Disease
83468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468
Solitary bone cyst
Disease
85182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182
Diaphyseal medullary stenosis-bone malignancy syndrome
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
223727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727
Bone sarcoma
Clinical group
2023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023
Undifferentiated pleomorphic sarcoma
Disease
2030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030
Fibrosarcoma
Disease
668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668
Osteosarcoma
Disease
319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319
Skeletal Ewing sarcoma
Disease
55880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880
Chondrosarcoma
Disease
363976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976
Giant cell tumor of bone
Disease
370348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348
Peripheral primitive neuroectodermal tumor
Disease
404507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507
Chondromyxoid fibroma
Disease
435329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329
Familial ossifying fibroma
Disease
71209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71209
Rare soft tissue tumor
Category
477742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742
Nodular fasciitis
Disease
289685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289685
Myopericytoma
Disease
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122
Kaposiform hemangioendothelioma
Disease
2591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591
Infantile myofibromatosis
Disease
3394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3394
Soft tissue sarcoma
Clinical group
466962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962
SMARCA4-deficient sarcoma of thorax
Disease
780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780
Rhabdomyosarcoma
Disease
99756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756
Alveolar rhabdomyosarcoma
Clinical subtype
99757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757
Embryonal rhabdomyosarcoma
Clinical subtype
293199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199
Pleomorphic rhabdomyosarcoma
Clinical subtype
2023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023
Undifferentiated pleomorphic sarcoma
Disease
2030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030
Fibrosarcoma
Disease
2126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126
Solitary fibrous tumor
Disease
3148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148
Malignant peripheral nerve sheath tumor
Disease
252212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212
Malignant triton tumor
Histopathological subtype
252128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128
Malignant peripheral nerve sheath tumor with perineurial differentiation
Histopathological subtype
3273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273
Synovial sarcoma
Disease
31112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112
Dermatofibrosarcoma protuberans
Disease
33276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276
Kaposi sarcoma
Disease
64720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720
Leiomyosarcoma
Disease
69077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077
Rhabdoid tumor
Disease
69078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078
Liposarcoma
Disease
99967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967
Myxoid/round cell liposarcoma
Histopathological subtype
99969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969
Pleomorphic liposarcoma
Histopathological subtype
99970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970
Dedifferentiated liposarcoma
Histopathological subtype
99971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971
Well-differentiated liposarcoma
Histopathological subtype
79105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105
Myxofibrosarcoma
Disease
83469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469
Desmoplastic small round cell tumor
Disease
163699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699
Alveolar soft tissue sarcoma
Disease
209916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916
Extraskeletal myxoid chondrosarcoma
Disease
263413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413
Angiosarcoma
Disease
293202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202
Epithelioid sarcoma
Disease
370334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334
Extraskeletal Ewing sarcoma
Disease
590539
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539
Isolated melanotic schwannoma
Disease
86902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902
Follicular dendritic cell sarcoma
Disease
370348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348
Peripheral primitive neuroectodermal tumor
Disease
99966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966
Atypical teratoid rhabdoid tumor
Disease
873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873
Desmoid tumor
Disease
57782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782
Mazabraud syndrome
Malformation syndrome
97338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338
Melanoma of soft tissue
Disease
157826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826
Congenital epulis
Disease
178342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342
Inflammatory myofibroblastic tumor
Disease
247762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762
Lipoblastoma
Disease
391651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391651
Glomus tumor
Disease
595133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595133
Perivascular epithelioid cell neoplasm
Disease
79386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79386
Rare skin tumor or hamartoma
Category
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377
Gorlin syndrome
Malformation syndrome
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
2800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800
Extramammary Paget disease
Disease
638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638
Neurofibromatosis-Noonan syndrome
Malformation syndrome
113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113
Bazex-Dupré-Christol syndrome
Disease
3110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110
Rombo syndrome
Disease
542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542
Primary cutaneous lymphoma
Category
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
178563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563
Primary cutaneous B-cell lymphoma
Category
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
2591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591
Infantile myofibromatosis
Disease
618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618
Familial melanoma
Disease
492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492
Proliferating trichilemmal cyst
Disease
840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840
Syringocystadenoma papilliferum
Disease
864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864
Trichofolliculoma
Disease
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493
Familial keratoacanthoma
Disease
523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Hereditary leiomyomatosis and renal cell cancer
Disease
31112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112
Dermatofibrosarcoma protuberans
Disease
53715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715
Familial tumoral calcinosis
Disease
306658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658
Familial normophosphatemic tumoral calcinosis
Clinical subtype
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
65748
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748
Multiple self-healing squamous epithelioma
Disease
79140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140
Cutaneous neuroendocrine carcinoma
Disease
79493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493
Brooke-Spiegler syndrome
Disease
211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211
Familial cylindromatosis
Clinical subtype
867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867
Familial multiple trichoepithelioma
Clinical subtype
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
91414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414
Pilomatrixoma
Disease
168632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632
Generalized basaloid follicular hamartoma syndrome
Disease
168999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999
Malignant melanoma of the mucosa
Disease
199257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199257
Superficial fibromatosis
Clinical group
199251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251
Ledderhose disease
Disease
199260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260
Calcifying aponeurotic fibroma
Disease
199267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267
Infantile digital fibromatosis
Disease
263435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435
Congenital smooth muscle hamartoma
Disease
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
294057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294057
Rare nevus
Category
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626
Large congenital melanocytic nevus
Disease
2612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612
Linear nevus sebaceus syndrome
Disease
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
2481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481
Neurocutaneous melanocytosis
Disease
2874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874
Phakomatosis pigmentokeratotica
Malformation syndrome
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
2611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611
Linear verrucous nevus syndrome
Disease
79466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466
Inflammatory linear verrucous epidermal nevus
Clinical subtype
79467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467
Verrucous nevus
Clinical subtype
79468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468
Acanthokeratolytic verrucous nevus
Clinical subtype
35125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125
Epidermal nevus syndrome
Disease
64754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754
Nevus comedonicus syndrome
Disease
64755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755
Becker nevus syndrome
Disease
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
139414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414
Congenital panfollicular nevus
Disease
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
166286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286
Porokeratotic eccrine ostial and dermal duct nevus
Disease
171723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723
White sponge nevus
Disease
263425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425
Nevus of Ota
Disease
263432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432
Nevus of Ito
Disease
313936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936
PENS syndrome
Disease
370039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039
Angora hair nevus
Disease
370046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046
Didymosis aplasticosebacea
Disease
370052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052
SCALP syndrome
Disease
370059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059
NEVADA syndrome
Disease
497757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Disease
497737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737
Epidermolytic nevus
Disease
300515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300515
Rare nail tumor
Category
300504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504
Onychocytic matricoma
Disease
300512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512
Onychomatricoma
Disease
306498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498
PTEN hamartoma tumor syndrome
Clinical group
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
Disease
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
404560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560
Familial atypical multiple mole melanoma syndrome
Disease
411777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777
Generalized eruptive keratoacanthoma
Disease
499182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182
Pilomatrix carcinoma
Disease
538756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756
Familial multiple discoid fibromas
Disease
569164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164
Angiomatoid fibrous histiocytoma
Disease
93619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93619
Rare renal tumor
Category
464359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359
Benign metanephric tumor
Disease
2665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665
Congenital mesoblastic nephroma
Disease
654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654
Nephroblastoma
Disease
97366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366
Multiloculated renal cyst
Morphological anomaly
217071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071
Renal cell carcinoma
Clinical group
247203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203
Collecting duct carcinoma
Disease
319276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276
Clear cell renal carcinoma
Disease
319287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287
Multilocular cystic renal neoplasm of low malignant potential
Histopathological subtype
404511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511
Clear cell papillary renal cell carcinoma
Histopathological subtype
319298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298
Papillary renal cell carcinoma
Disease
319303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303
Chromophobe renal cell carcinoma
Disease
319308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308
MiT family translocation renal cell carcinoma
Disease
319319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319
Renal medullary carcinoma
Disease
319322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322
Mucinous tubular and spindle cell renal carcinoma
Disease
319325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325
Tubulocystic renal cell carcinoma
Disease
404514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514
Acquired cystic disease-associated renal cell carcinoma
Disease
2111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111
Cystic hamartoma of lung and kidney
Disease
457246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246
Clear cell sarcoma of kidney
Disease
98059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98059
Rare digestive tumor
Category
101943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101943
Rare hepatic and biliary tract tumor
Category
306633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306633
Rare tumor of gallbladder and extrahepatic biliary tract
Category
56044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044
Carcinoma of gallbladder and extrahepatic biliary tract
Clinical group
70567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567
Cholangiocarcinoma
Disease
99978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978
Klatskin tumor
Disease
424991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Disease
424996
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Disease
529852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852
Combined hepatocellular carcinoma and cholangiocarcinoma
Disease
100086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086
Gallbladder neuroendocrine tumor
Disease
306636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306636
Rare tumor of liver and intrahepatic biliary tract
Category
449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449
Hepatoblastoma
Disease
386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386
Hepatic cystic hamartoma
Disease
54272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272
Hepatocellular adenoma
Disease
178315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315
Undifferentiated embryonal sarcoma of the liver
Disease
424933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933
Rare malignant epithelial tumor of liver and intrahepatic biliary tract
Category
100085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085
Primary hepatic neuroendocrine carcinoma
Disease
424936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936
Carcinoma of liver and intrahepatic biliary tract
Category
529852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852
Combined hepatocellular carcinoma and cholangiocarcinoma
Disease
70567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567
Cholangiocarcinoma
Disease
88673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673
Hepatocellular carcinoma
Clinical group
33402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402
Pediatric hepatocellular carcinoma
Disease
210159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159
Adult hepatocellular carcinoma
Disease
401920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920
Fibrolamellar hepatocellular carcinoma
Disease
424943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943
Adenocarcinoma of the liver and intrahepatic biliary tract
Disease
424970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Disease
424975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975
Squamous cell carcinoma of liver and intrahepatic biliary tract
Disease
424982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982
Biliary cystadenocarcinoma
Disease
100035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035
Solitary necrotic nodule of the liver
Disease
566841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841
Liver adenomatosis
Disease
104011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011
Rare tumor of intestine
Category
423793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793
Rare tumor of small intestine
Category
652658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658
Monomorphic epitheliotropic intestinal T-cell lymphoma
Disease
86880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880
Enteropathy-associated T-cell lymphoma
Disease
423798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798
Mesenchymal tumor of small intestine
Category
44890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890
Gastrointestinal stromal tumor
Disease
104076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076
Leiomyosarcoma of small intestine
Disease
425368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368
Rare epithelial tumor of small intestine
Category
423957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957
Rare carcinoma of small intestine
Category
104075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075
Adenocarcinoma of the small intestine
Disease
423968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968
Squamous cell carcinoma of the small intestine
Disease
423975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975
Neuroendocrine tumor of the small intestine
Category
100076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076
Duodenal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
100077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077
Jejunal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
100078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078
Ileal neuroendocrine tumor
Disease
423982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982
Epithelial tumor of the appendix
Category
100079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079
Neuroendocrine neoplasm of appendix
Disease
329977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977
Classic neuroendocrine tumor of appendix
Clinical subtype
329984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984
Goblet cell carcinoma
Clinical subtype
391723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723
Mucinous adenocarcinoma of the appendix
Disease
423991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991
Rare epithelial tumor of colon
Category
100080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080
Neuroendocrine tumor of the colon
Disease
423994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994
Squamous cell carcinoma of the colon
Disease
423998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998
Rare epithelial tumor of rectum
Category
100081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081
Neuroendocrine tumor of the rectum
Disease
424002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002
Squamous cell carcinoma of the rectum
Disease
424010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010
Epithelial tumor of anal canal
Category
100082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082
Neuroendocrine tumor of anal canal
Disease
424013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013
Carcinoma of the anal canal
Clinical group
424016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016
Adenocarcinoma of the anal canal
Disease
424019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019
Squamous cell carcinoma of the anal canal
Disease
180821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821
Rare gastroesophageal tumor
Category
63443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443
Rare epithelial tumor of stomach
Category
100075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075
Neuroendocrine tumor of stomach
Disease
423771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423771
Rare carcinoma of stomach
Category
36273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273
Gastric linitis plastica
Disease
313920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920
Epstein-Barr virus-associated gastric carcinoma
Disease
418959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959
Squamous cell carcinoma of the stomach
Disease
423776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423776
Hereditary gastric cancer
Category
26106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106
Hereditary diffuse gastric cancer
Disease
314022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022
Gastric adenocarcinoma and proximal polyposis of the stomach
Disease
423786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786
Undifferentiated carcinoma of stomach
Disease
464756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756
Familial gastric type 1 neuroendocrine tumor
Disease
70482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482
Carcinoma of esophagus
Clinical group
99976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976
Adenocarcinoma of the esophagus
Disease
99977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977
Squamous cell carcinoma of the esophagus
Disease
418945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945
Carcinoma of esophagus, salivary gland type
Disease
418951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951
Undifferentiated carcinoma of esophagus
Disease
506136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136
Neuroendocrine neoplasm of esophagus
Disease
180824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824
Rare tumor of pancreas
Category
424033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033
Rare epithelial tumor of pancreas
Category
677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677
Pancreatoblastoma
Disease
506052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052
Neuroendocrine neoplasm of pancreas
Category
97253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253
Neuroendocrine tumor of pancreas
Category
506060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060
Functioning neuroendocrine tumor of pancreas
Category
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
97261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261
GRFoma
Disease
97278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278
PPoma
Disease
97279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279
Insulinoma
Disease
97280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280
Glucagonoma
Disease
97282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282
VIPoma
Disease
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
506090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090
Serotonin-producing neuroendocrine tumor of pancreas
Disease
506075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075
Non-functioning neuroendocrine tumor of pancreas
Disease
506098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098
Neuroendocrine carcinoma of pancreas
Disease
506112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Disease
217074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074
Rare carcinoma of pancreas
Category
1333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333
Familial pancreatic carcinoma
Disease
424039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039
Squamous cell carcinoma of pancreas
Disease
424046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046
Acinar cell carcinoma of pancreas
Disease
424053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053
Mucinous cystadenocarcinoma of the pancreas
Disease
424058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058
Intraductal papillary mucinous carcinoma of pancreas
Disease
424065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065
Solid pseudopapillary carcinoma of pancreas
Disease
424073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073
Serous cystadenocarcinoma of pancreas
Disease
424080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Disease
93292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292
Adenoma of pancreas
Disease
580572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572
Intraductal tubulopapillary neoplasm of pancreas
Disease
438274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274
GCGR-related hyperglucagonemia
Disease
276142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142
Rare tumor of salivary glands
Category
276145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145
Malignant epithelial tumor of salivary glands
Disease
500481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500481
Squamous cell carcinoma of salivary glands
Histopathological subtype
276148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148
Benign epithelial tumor of salivary glands
Disease
454821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821
Pleomorphic salivary gland adenoma
Histopathological subtype
300557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557
Carcinoma of the ampulla of Vater
Disease
98060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98060
Rare respiratory tumor
Category
150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150
Nasopharyngeal carcinoma
Disease
101945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101945
Rare bronchopulmonary tumor
Category
2420
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420
Primary pulmonary lymphoma
Disease
50251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251
Pleural mesothelioma
Disease
64741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741
Pulmonary blastoma
Disease
64742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742
Pleuropulmonary blastoma
Disease
99933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99933
Pleuropulmonary blastoma type 1
Clinical subtype
99934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99934
Pleuropulmonary blastoma type 2
Clinical subtype
99935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99935
Pleuropulmonary blastoma type 3
Clinical subtype
284343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343
DICER1 tumor-predisposition syndrome
Disease
284362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362
Fetal lung interstitial tumor
Clinical subtype
70573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573
Small cell lung cancer
Disease
97287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287
Bronchial neuroendocrine tumor
Disease
284395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395
Well-differentiated fetal adenocarcinoma of the lung
Disease
466962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962
SMARCA4-deficient sarcoma of thorax
Disease
98062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98062
Rare nervous system tumor
Category
46135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135
Primary central nervous system lymphoma
Disease
54595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595
Craniopharyngioma
Disease
251558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251558
Rare tumor of neuroepithelial tissue
Category
182067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182067
Glial tumor
Clinical group
301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301
Ependymal tumor
Clinical group
251646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646
Anaplastic ependymoma
Disease
251636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636
Ependymoma
Disease
530792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792
RELA fusion-positive ependymoma
Disease
251639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639
Subependymoma
Disease
251643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643
Myxopapillary ependymoma
Disease
94
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94
Astrocytoma
Clinical group
251561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251561
High-grade astrocytoma
Clinical group
497188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188
Diffuse intrinsic pontine glioma
Disease
360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360
Glioblastoma
Disease
251576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576
Gliosarcoma
Histopathological subtype
251579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579
Giant cell glioblastoma
Histopathological subtype
251582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582
Gliomatosis cerebri
Disease
251589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589
Anaplastic astrocytoma
Disease
251592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251592
Low-grade astrocytoma
Clinical group
251595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595
Diffuse astrocytoma
Disease
251598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598
Protoplasmic astrocytoma
Histopathological subtype
251601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601
Fibrillary astrocytoma
Histopathological subtype
251604
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604
Gemistocytic astrocytoma
Histopathological subtype
251607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607
Pleomorphic xanthoastrocytoma
Disease
251612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612
Pilocytic astrocytoma
Disease
251615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615
Pilomyxoid astrocytoma
Histopathological subtype
251618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618
Subependymal giant cell astrocytoma
Disease
251623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623
Pituicytoma
Disease
46484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484
Oligodendroglial tumor
Clinical group
251627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627
Oligodendroglioma
Disease
251630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630
Anaplastic oligodendroglioma
Disease
251651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251651
Oligoastrocytic tumor
Clinical group
251656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656
Oligoastrocytoma
Disease
251663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663
Anaplastic oligoastrocytoma
Disease
251668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251668
Glial tumor of neuroepithelial tissue with unknown origin
Clinical group
251671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671
Angiocentric glioma
Disease
251674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674
Chordoid glioma
Disease
251679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679
Astroblastoma
Disease
251852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251852
Embryonal tumor of neuroepithelial tissue
Category
616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616
Medulloblastoma
Disease
251855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855
Anaplastic/large cell medulloblastoma
Histopathological subtype
251858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858
Medulloblastoma with extensive nodularity
Histopathological subtype
251863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863
Desmoplastic/nodular medulloblastoma
Histopathological subtype
251867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867
Classic medulloblastoma
Histopathological subtype
99966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966
Atypical teratoid rhabdoid tumor
Disease
251870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870
Central nervous system embryonal tumor
Clinical group
635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635
Neuroblastoma
Disease
1957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957
Esthesioneuroblastoma
Disease
251877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877
Ganglioneuroblastoma
Disease
656417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656417
Embryonal tumor with multilayered rosettes
Disease
251896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251896
Choroid plexus tumor
Clinical group
2807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807
Papilloma of choroid plexus
Disease
251899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899
Choroid plexus carcinoma
Disease
251902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251902
Atypical papilloma of choroid plexus
Disease
251905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251905
Pineal tumor of neuroepithelial tissue
Clinical group
251909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909
Pineoblastoma
Disease
251912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912
Pineocytoma
Disease
251915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915
Papillary tumor of the pineal region
Disease
251919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919
Pineal parenchymal tumor of intermediate differentiation
Disease
251924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251924
Neuronal tumor
Clinical group
73256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256
Central neurocytoma
Disease
251927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927
Extraventricular neurocytoma
Disease
251931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931
Cerebellar liponeurocytoma
Disease
251934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251934
Mixed neuronal-glial tumor
Clinical group
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
Disease
251937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937
Gangliocytoma
Disease
251940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940
Desmoplastic infantile astrocytoma/ganglioglioma
Disease
251946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946
Dysembryoplastic neuroepithelial tumor
Disease
251949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949
Ganglioglioma
Disease
141115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115
Nasal ganglioglioma
Clinical subtype
251957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957
Anaplastic ganglioglioma
Disease
251962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962
Papillary glioneuronal tumor
Disease
251975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975
Rosette-forming glioneuronal tumor
Disease
251992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992
Ganglioneuroma
Disease
251995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995
Primary germ cell tumor of central nervous system
Category
48736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736
Embryonal carcinoma of the central nervous system
Clinical subtype
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
252006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006
Yolk sac tumor of central nervous system
Clinical subtype
252015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015
Choriocarcinoma of the central nervous system
Disease
252018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018
Teratoma of the central nervous system
Clinical subtype
252021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021
Mixed germ cell tumor of central nervous system
Clinical subtype
252025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252025
Tumor of meninges
Category
2495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495
Meningioma
Disease
252028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252028
Primary melanocytic tumor of central nervous system
Category
252031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252031
Diffuse leptomeningeal melanocytosis
Disease
252046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252046
Meningeal melanocytoma
Disease
252050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050
Primary melanoma of the central nervous system
Disease
263662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662
Familial multiple meningioma
Disease
252054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054
Hemangioblastoma
Disease
252057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252057
Tumor of cranial and spinal nerves
Category
2086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086
Optic pathway glioma
Disease
3148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148
Malignant peripheral nerve sheath tumor
Disease
252212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212
Malignant triton tumor
Histopathological subtype
252128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128
Malignant peripheral nerve sheath tumor with perineurial differentiation
Histopathological subtype
85102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85102
Perineurioma
Clinical group
100002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002
Extraneural perineurioma
Disease
100000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000
Reticular perineurioma
Clinical subtype
100001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001
Sclerosing perineurioma
Clinical subtype
100003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003
Intraneural perineurioma
Disease
252131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252131
Benign peripheral nerve sheath tumor
Category
252164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164
Benign schwannoma
Disease
252175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175
Vestibular schwannoma
Clinical subtype
252183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183
Neurofibroma
Disease
300501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Malformation syndrome
590539
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539
Isolated melanotic schwannoma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
98063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98063
Rare gynecological tumor
Category
180312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180312
Rare vulvovaginal tumor
Category
137583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583
Vulvar intraepithelial neoplasia
Disease
180247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247
Vaginal carcinoma
Disease
206489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206489
Malignant germ cell tumor of the vagina
Disease
206492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206492
Vulvovaginal rhabdomyosarcoma
Disease
494418
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418
Vulvar carcinoma
Disease
494448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448
Vulvar squamous cell carcinoma
Histopathological subtype
494451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451
Vulvar basal cell carcinoma
Histopathological subtype
494454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454
Vulvar adenocarcinoma
Histopathological subtype
213564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213564
Rare uterine cancer
Category
213569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213569
Rare cancer of corpus uteri
Category
213589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213589
Malignant mixed epithelial and mesenchymal tumor of corpus uteri
Clinical group
213600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600
Adenosarcoma of the corpus uteri
Disease
213605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605
Carcinofibroma of the corpus uteri
Disease
213610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610
Carcinosarcoma of the corpus uteri
Disease
213620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213620
Sarcoma of the corpus uteri
Clinical group
213615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615
Rhabdomyosarcoma of the corpus uteri
Disease
213625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213625
Leiomyosarcoma of the corpus uteri
Disease
213630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213630
Primitive neuroectodermal tumor of the corpus uteri
Disease
213711
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711
Endometrial stromal sarcoma
Disease
213716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716
Squamous cell carcinoma of the corpus uteri
Disease
213721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721
Undifferentiated carcinoma of the corpus uteri
Disease
213726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726
Serous carcinoma of the corpus uteri
Disease
213731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731
High-grade neuroendocrine carcinoma of the corpus uteri
Disease
213736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213736
Low-grade neuroendocrine tumor of the corpus uteri
Disease
213746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746
Transitional cell carcinoma of the corpus uteri
Disease
213751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751
Malignant germ cell tumor of the corpus uteri
Disease
213761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213761
Rare cancer of cervix uteri
Category
213767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767
Squamous cell carcinoma of the cervix uteri
Disease
213772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772
Adenocarcinoma of the cervix uteri
Disease
213777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777
High-grade neuroendocrine carcinoma of the cervix uteri
Disease
213782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213782
Malignant mixed epithelial and mesenchymal tumor of cervix uteri
Clinical group
213787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787
Carcinosarcoma of the cervix uteri
Disease
213792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792
Adenosarcoma of the cervix uteri
Disease
213797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213797
Sarcoma of cervix uteri
Clinical group
213802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802
Rhabdomyosarcoma of the cervix uteri
Disease
213807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807
Leiomyosarcoma of the cervix uteri
Disease
213812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812
Primitive neuroectodermal tumor of the cervix uteri
Disease
213823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823
Adenoid cystic carcinoma of the cervix uteri
Disease
213828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828
Adenoid basal carcinoma of the cervix uteri
Disease
213833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213833
Glassy cell carcinoma of the cervix uteri
Disease
213837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213837
Malignant germ cell tumor of the cervix uteri
Disease
254685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254685
Gestational trophoblastic disease
Category
59305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305
Gestational trophoblastic neoplasm
Clinical group
99925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925
Invasive mole
Disease
99926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926
Gestational choriocarcinoma
Disease
99928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928
Placental site trophoblastic tumor
Disease
254698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698
Epithelioid trophoblastic tumor
Disease
99927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927
Hydatidiform mole
Disease
254688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688
Complete hydatidiform mole
Clinical subtype
254693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693
Partial hydatidiform mole
Clinical subtype
2800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800
Extramammary Paget disease
Disease
180220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180220
Rare uterine adnexal tumor
Category
97293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97293
Rare benign ovarian tumor
Category
569248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248
Microcystic stromal tumor
Disease
206470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470
Cystadenoma of childhood
Disease
563676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676
Seromucinous cystadenoma of childhood
Histopathological subtype
563671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671
Mucinous cystadenoma of childhood
Histopathological subtype
563666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666
Serous cystadenoma of childhood
Histopathological subtype
314451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451
Meigs syndrome
Clinical syndrome
314459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459
Pseudo-Meigs syndrome
Clinical syndrome
314466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466
Atypical Meigs syndrome
Clinical syndrome
314473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473
Ovarian fibroma
Disease
314478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478
Ovarian fibrothecoma
Disease
180237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237
Benign tumor of fallopian tubes
Disease
180242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242
Malignant tumor of fallopian tubes
Disease
213500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213500
Ovarian cancer
Category
398934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934
Malignant epithelial tumor of ovary
Category
213504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504
Adenocarcinoma of ovary
Disease
213512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512
Malignant mixed Müllerian tumor of the ovary
Disease
398961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961
Mucinous adenocarcinoma of ovary
Disease
398971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971
Clear cell adenocarcinoma of the ovary
Disease
454723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723
Endometrioid carcinoma of ovary
Disease
398940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940
Malignant non-epithelial tumor of ovary
Category
370396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396
Small cell carcinoma of the ovary
Disease
35807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807
Malignant germ cell tumor of ovary
Category
99912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912
Ovarian dysgerminoma
Disease
206538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538
Malignant non-dysgerminomatous germ cell tumor of ovary
Disease
289356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356
Primary non-gestational choriocarcinoma of ovary
Disease
35808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808
Malignant sex cord stromal tumor of ovary
Category
99914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914
Gynandroblastoma
Disease
99915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915
Malignant granulosa cell tumor of the ovary
Disease
99916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916
Malignant Sertoli-Leydig cell tumor of the ovary
Disease
99917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917
Theca steroid-producing cell malignant tumor of ovary, not further specified
Disease
206484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484
Gonadoblastoma
Disease
398987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987
Malignant teratoma of ovary
Disease
180250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180250
Rare breast tumor
Category
180253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180253
Rare benign breast tumor
Category
180261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261
Phyllodes tumor of the breast
Disease
180267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267
Giant adenofibroma of the breast
Disease
180257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180257
Rare malignant breast tumor
Category
145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145
Hereditary breast and/or ovarian cancer syndrome
Disease
180275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275
Paget disease of the nipple
Disease
213528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528
Rare adenocarcinoma of the breast
Disease
213531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531
Metaplastic carcinoma of the breast
Disease
213557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557
Salivary gland type cancer of the breast
Disease
227535
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535
Hereditary breast cancer
Disease
180261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261
Phyllodes tumor of the breast
Disease
100100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100100
Thymic tumor
Category
3398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3398
Thymic epithelial neoplasm
Category
99867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99867
Thymoma
Disease
263310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310
Thymoma type A
Histopathological subtype
263317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317
Thymoma type B
Histopathological subtype
263324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324
Thymoma type AB
Histopathological subtype
99868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99868
Thymic carcinoma
Disease
99869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869
Thymic neuroendocrine carcinoma
Disease
263331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331
Well-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335
Moderately-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339
Poorly differentiated thymic neuroendocrine carcinoma
Histopathological subtype
97289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289
Thymic neuroendocrine tumor
Disease
101950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101950
Rare eye tumor
Category
658590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658590
Eyelid sebaceous carcinoma
Disease
617910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910
Conjunctival malignant melanoma
Disease
790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790
Retinoblastoma
Disease
357027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027
Hereditary retinoblastoma
Clinical subtype
357034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034
Non-hereditary retinoblastoma
Clinical subtype
39044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044
Uveal melanoma
Disease
52994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994
Orbital leiomyoma
Disease
91481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481
Ring dermoid of cornea
Disease
268139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139
Intraocular medulloepithelioma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
279904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904
Primary intraocular lymphoma
Disease
440727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727
Combined hamartoma of the retina and retinal pigment epithelium
Disease
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
353356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356
Vasoproliferative tumor of the retina
Disease
168194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194
Rare cardiac tumor
Category
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615
Familial atrial myxoma
Disease
874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874
Primary adult heart tumor
Disease
875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875
Primary pediatric heart tumor
Disease
319340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340
Carney complex-trismus-pseudocamptodactyly syndrome
Disease
168803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168803
Primary peritoneal tumor
Category
26790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790
Pseudomyxoma peritonei
Disease
71274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274
Disseminated peritoneal leiomyomatosis
Disease
168807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807
Primary malignant peritoneal tumor
Category
83469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469
Desmoplastic small round cell tumor
Disease
168811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811
Malignant peritoneal mesothelioma
Disease
168816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816
Peritoneal cystic mesothelioma
Disease
168829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829
Primary peritoneal carcinoma
Disease
182114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182114
Rare urogenital tumor
Category
98058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98058
Rare urinary tract tumor
Category
598216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216
Upper tract urothelial carcinoma
Disease
498228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228
Phyllodes tumor of the prostate
Disease
1331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331
Familial prostate cancer
Disease
209989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209989
Non-papillary transitional cell carcinoma of the bladder
Disease
284400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400
Small cell carcinoma of the bladder
Disease
363472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472
Tumor of testis and paratestis
Category
363478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478
Paratesticular adenocarcinoma
Disease
363483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483
Testicular teratoma
Disease
363489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489
Sex cord-stromal tumor of testis
Disease
363504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504
Germ cell tumor of testis
Category
842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842
Testicular seminomatous germ cell tumor
Disease
99865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865
Spermatocytic seminoma
Disease
363494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494
Non-seminomatous germ cell tumor of testis
Disease
206484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484
Gonadoblastoma
Disease
398043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043
Malignant tumor of penis
Category
398053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053
Adenocarcinoma of the penis
Disease
398058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058
Squamous cell carcinoma of the penis
Disease
182130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182130
Tumor of endocrine glands
Category
877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877
Neuroendocrine neoplasm
Category
100093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093
Carcinoid syndrome
Clinical syndrome
100092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100092
Gastroenteropancreatic neuroendocrine neoplasm
Category
506052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052
Neuroendocrine neoplasm of pancreas
Category
97253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253
Neuroendocrine tumor of pancreas
Category
506060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060
Functioning neuroendocrine tumor of pancreas
Category
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
97261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261
GRFoma
Disease
97278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278
PPoma
Disease
97279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279
Insulinoma
Disease
97280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280
Glucagonoma
Disease
97282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282
VIPoma
Disease
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
506090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090
Serotonin-producing neuroendocrine tumor of pancreas
Disease
506075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075
Non-functioning neuroendocrine tumor of pancreas
Disease
506098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098
Neuroendocrine carcinoma of pancreas
Disease
506112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Disease
481508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481508
Gastroenteric neuroendocrine neoplasm
Category
100075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075
Neuroendocrine tumor of stomach
Disease
100079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079
Neuroendocrine neoplasm of appendix
Disease
329977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977
Classic neuroendocrine tumor of appendix
Clinical subtype
329984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984
Goblet cell carcinoma
Clinical subtype
100080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080
Neuroendocrine tumor of the colon
Disease
100081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081
Neuroendocrine tumor of the rectum
Disease
100082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082
Neuroendocrine tumor of anal canal
Disease
423975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975
Neuroendocrine tumor of the small intestine
Category
100076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076
Duodenal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
100077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077
Jejunal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
100078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078
Ileal neuroendocrine tumor
Disease
506136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136
Neuroendocrine neoplasm of esophagus
Disease
100101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100101
Neuroendocrine tumor with other location
Category
79140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140
Cutaneous neuroendocrine carcinoma
Disease
97287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287
Bronchial neuroendocrine tumor
Disease
100083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083
Laryngeal neuroendocrine tumor
Disease
100084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084
Middle ear neuroendocrine tumor
Disease
100085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085
Primary hepatic neuroendocrine carcinoma
Disease
100086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086
Gallbladder neuroendocrine tumor
Disease
213731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731
High-grade neuroendocrine carcinoma of the corpus uteri
Disease
97289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289
Thymic neuroendocrine tumor
Disease
213777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777
High-grade neuroendocrine carcinoma of the cervix uteri
Disease
99869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869
Thymic neuroendocrine carcinoma
Disease
263331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331
Well-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335
Moderately-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339
Poorly differentiated thymic neuroendocrine carcinoma
Histopathological subtype
284400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400
Small cell carcinoma of the bladder
Disease
178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Chordoma
Disease
53715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715
Familial tumoral calcinosis
Disease
306658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658
Familial normophosphatemic tumoral calcinosis
Clinical subtype
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
100087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087
Rare thyroid tumor
Category
97285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285
Thyroid lymphoma
Disease
100088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088
Rare thyroid carcinoma
Category
99361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361
Familial medullary thyroid carcinoma
Disease
146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146
Differentiated thyroid carcinoma
Disease
653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Multiple endocrine neoplasia type 2
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142
Anaplastic thyroid carcinoma
Disease
1332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332
Medullary thyroid carcinoma
Disease
319494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494
Familial nonmedullary thyroid carcinoma
Clinical group
97290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290
Familial papillary thyroid carcinoma with renal papillary neoplasia
Disease
319487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487
Familial papillary or follicular thyroid carcinoma
Disease
100090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100090
Rare parathyroid tumor
Category
2207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207
Familial primary hyperparathyroidism
Clinical group
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
99879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879
Familial isolated hyperparathyroidism
Disease
99880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Hyperparathyroidism-jaw tumor syndrome
Disease
143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143
Parathyroid carcinoma
Disease
100091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100091
Adrenal/paraganglial tumor
Category
1501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501
Adrenocortical carcinoma
Disease
404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Familial hyperaldosteronism type II
Disease
91351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351
Pituitary dermoid and epidermoid cysts
Disease
649017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649017
Rare adrenocortical nodular disease
Clinical group
647772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772
Isolated primary pigmented nodular adrenocortical disease
Disease
647782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782
Isolated micronodular adrenocortical disease
Disease
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
573163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573163
Pheochromocytoma-paraganglioma
Clinical group
324299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299
Multiple paragangliomas associated with polycythemia
Disease
29072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072
Hereditary pheochromocytoma-paraganglioma
Disease
276621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621
Sporadic pheochromocytoma/secreting paraganglioma
Disease
94080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94080
Non-functioning paraganglioma
Disease
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
100094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094
Multiple polyglandular tumor
Category
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
97286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286
Carney-Stratakis syndrome
Disease
139411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411
Carney triad
Disease
276161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161
Multiple endocrine neoplasia
Clinical group
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Multiple endocrine neoplasia type 2
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
276152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152
Multiple endocrine neoplasia type 4
Disease
304055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304055
Pituitary tumor
Category
99408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408
Pituitary adenoma
Clinical group
91349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349
Non-functioning pituitary adenoma
Disease
314786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786
Silent pituitary adenoma
Histopathological subtype
314790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790
Null pituitary adenoma
Histopathological subtype
314753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314753
Functioning pituitary adenoma
Clinical group
2965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965
Prolactinoma
Disease
91347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347
TSH-secreting pituitary adenoma
Disease
91348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348
Functioning gonadotropic adenoma
Disease
96253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
Cushing disease
Disease
96256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256
Somatotropic adenoma
Clinical group
963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963
Acromegaly
Disease
99725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725
Pituitary gigantism
Disease
199244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244
Nelson syndrome
Clinical syndrome
314759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314759
Mixed functioning pituitary adenoma
Category
314769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769
Somatomammotropinoma
Disease
314777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777
Familial isolated pituitary adenoma
Disease
300385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385
Pituitary carcinoma
Disease
211237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237
Rare vascular tumor
Category
1062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062
Hereditary neurocutaneous malformation
Disease
33276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276
Kaposi sarcoma
Disease
458768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768
Primary intralymphatic angioendothelioma
Disease
263413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413
Angiosarcoma
Disease
458775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775
Congenital hemangioma
Clinical group
141179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179
Non-involuting congenital hemangioma
Disease
458785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785
Partially involuting congenital hemangioma
Disease
141184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184
Rapidly involuting congenital hemangioma
Disease
2123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123
Diffuse neonatal hemangiomatosis
Malformation syndrome
458758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758
Composite hemangioendothelioma
Disease
1063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063
Tufted angioma
Disease
2122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122
Kaposiform hemangioendothelioma
Disease
458763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763
Retiform hemangioendothelioma
Disease
71213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213
Retinal capillary malformation
Disease
210584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584
Spindle cell hemangioma
Disease
157791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791
Epithelioid hemangioendothelioma
Disease
210589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589
Infantile hemangioma of rare localization
Clinical group
140436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436
Primary intraosseous venous malformation
Disease
137935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935
Laryngotracheal angioma
Disease
458827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458827
Vascular tumor with associated anomalies
Category
42775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
PHACE syndrome
Malformation syndrome
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
329324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329324
Inverse Klippel-Trénaunay syndrome
Disease
464318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318
Verrucous hemangioma
Disease
464329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329
Kaposiform lymphangiomatosis
Disease
289635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289635
Rare virus associated tumor
Category
79140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140
Cutaneous neuroendocrine carcinoma
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
102024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102024
Human herpesvirus 8-related disorder
Category
570438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438
HHV-8-associated multicentric Castleman disease
Clinical subtype
33276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276
Kaposi sarcoma
Disease
48686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686
Primary effusion lymphoma
Disease
289638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289638
Epstein-Barr Virus-related tumor
Category
289644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289644
Epstein-Barr virus-associated malignant lymphoproliferative disorder
Category
543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543
Burkitt lymphoma
Disease
46135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135
Primary central nervous system lymphoma
Disease
48686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686
Primary effusion lymphoma
Disease
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
86869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869
Lymphomatoid granulomatosis
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
98293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293
Hodgkin lymphoma
Clinical group
391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391
Classic Hodgkin lymphoma
Disease
98843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843
Classic Hodgkin lymphoma, nodular sclerosis type
Histopathological subtype
98844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844
Classic Hodgkin lymphoma, mixed cellularity type
Histopathological subtype
98845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845
Classic Hodgkin lymphoma, lymphocyte-rich type
Histopathological subtype
98846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846
Classic Hodgkin lymphoma, lymphocyte-depleted type
Histopathological subtype
86893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893
Nodular lymphocyte predominant Hodgkin lymphoma
Disease
289661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
Disease
289666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666
Plasmablastic lymphoma
Disease
300888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888
Diffuse large B-cell lymphoma with chronic inflammation
Disease
364033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Disease
364039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039
Hydroa vacciniforme-like lymphoma
Disease
289651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289651
Epstein-Barr Virus-associated carcinoma
Category
150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150
Nasopharyngeal carcinoma
Disease
289682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289682
Lymphoepithelial-like carcinoma
Disease
313920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920
Epstein-Barr virus-associated gastric carcinoma
Disease
289656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289656
Epstein-Barr Virus-associated mesenchymal tumor
Category
64720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720
Leiomyosarcoma
Disease
86902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902
Follicular dendritic cell sarcoma
Disease
289685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289685
Myopericytoma
Disease
443291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443291
HIV-associated cancer
Particular clinical situation in a disease or syndrome
290849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290849
Rare head and neck tumor
Category
276142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142
Rare tumor of salivary glands
Category
276145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145
Malignant epithelial tumor of salivary glands
Disease
500481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500481
Squamous cell carcinoma of salivary glands
Histopathological subtype
276148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148
Benign epithelial tumor of salivary glands
Disease
454821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821
Pleomorphic salivary gland adenoma
Histopathological subtype
314425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314425
Rare odontogenic tumor
Category
314419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419
Ameloblastoma
Disease
314422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422
Ameloblastic carcinoma
Disease
447777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777
Keratocystic odontogenic tumor
Disease
98061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98061
Rare otorhinolaryngologic tumor
Category
500464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Disease
500478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478
Squamous cell carcinoma of the oropharynx
Disease
502369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502369
Squamous cell carcinoma of oral cavity and lip
Category
502366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366
Squamous cell carcinoma of the lip
Disease
502363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363
Squamous cell carcinoma of the oral cavity
Disease
150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150
Nasopharyngeal carcinoma
Disease
100083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083
Laryngeal neuroendocrine tumor
Disease
100084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084
Middle ear neuroendocrine tumor
Disease
141077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077
Epignathus
Clinical subtype
141107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107
Nasopharyngeal teratoma
Clinical subtype
141112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112
Nasal glial heterotopia
Disease
141115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115
Nasal ganglioglioma
Clinical subtype
289596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596
Juvenile nasopharyngeal angiofibroma
Disease
494547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547
Squamous cell carcinoma of the hypopharynx
Disease
494550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550
Squamous cell carcinoma of the larynx
Disease
252175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175
Vestibular schwannoma
Clinical subtype
443167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167
NUT midline carcinoma
Disease
626609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626609
Rare andrological tumor
Category
227535
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535
Hereditary breast cancer
Disease
363472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472
Tumor of testis and paratestis
Category
363478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478
Paratesticular adenocarcinoma
Disease
363483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483
Testicular teratoma
Disease
363489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489
Sex cord-stromal tumor of testis
Disease
363504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504
Germ cell tumor of testis
Category
842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842
Testicular seminomatous germ cell tumor
Disease
99865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865
Spermatocytic seminoma
Disease
363494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494
Non-seminomatous germ cell tumor of testis
Disease
206484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484
Gonadoblastoma
Disease
398043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043
Malignant tumor of penis
Category
398053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053
Adenocarcinoma of the penis
Disease
398058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058
Squamous cell carcinoma of the penis
Disease
631251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631251
Cancer of unknown primary site
Disease
140162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162
Inherited cancer-predisposing syndrome
Category
252206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206
Melanoma and neural system tumor syndrome
Disease
231108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108
Rhabdoid tumor predisposition syndrome
Disease
377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377
Gorlin syndrome
Malformation syndrome
1059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059
Blue rubber bleb nevus
Malformation syndrome
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302
Epidermodysplasia verruciformis
Disease
1572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572
Common variable immunodeficiency
Disease
99749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749
Kostmann syndrome
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
183422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422
Polymalformative genetic syndrome with increased risk of developing cancer
Category
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906
Wiskott-Aldrich syndrome
Disease
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
50
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50
Aicardi syndrome
Disease
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Diamond-Blackfan anemia
Disease
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813
Silver-Russell syndrome
Disease
96182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Etiological subtype
231137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Etiological subtype
231140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140
Silver-Russell syndrome due to an imprinting defect of 11p15
Etiological subtype
231144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to 11p15 microduplication
Etiological subtype
231147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Etiological subtype
397590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590
Silver-Russell syndrome due to a point mutation
Etiological subtype
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
1052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Mosaic variegated aneuploidy syndrome
Malformation syndrome
2128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128
Isolated hemihyperplasia
Morphological anomaly
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
Nijmegen breakage syndrome
Malformation syndrome
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
2849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849
Perlman syndrome
Malformation syndrome
882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Tyrosinemia type 1
Disease
220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Denys-Drash syndrome
Disease
347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Frasier syndrome
Disease
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
50944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944
Schöpf-Schulz-Passarge syndrome
Disease
60040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Malformation syndrome
99812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812
LIG4 syndrome
Disease
166113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113
Bazex syndrome
Disease
169079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079
Cernunnos-XLF deficiency
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
221016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016
Rothmund-Thomson syndrome type 2
Clinical subtype
240760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760
Nijmegen breakage syndrome-like disorder
Malformation syndrome
251347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347
Ataxia-telangiectasia-like disorder
Disease
280558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558
Warsaw breakage syndrome
Malformation syndrome
300576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576
Oligodontia-cancer predisposition syndrome
Disease
306498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498
PTEN hamartoma tumor syndrome
Clinical group
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
Disease
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
363972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Malformation syndrome
438134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134
PCNA-related progressive neurodegenerative photosensitivity syndrome
Disease
2608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608
N syndrome
Malformation syndrome
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
238510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238510
Lymphoproliferative syndrome
Clinical group
2442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442
X-linked lymphoproliferative disease
Clinical group
538931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931
X-linked lymphoproliferative disease due to SH2D1A deficiency
Disease
538934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934
X-linked lymphoproliferative disease due to XIAP deficiency
Disease
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
238505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505
Combined immunodeficiency due to CD27 deficiency
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
275517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Disease
275523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523
Dianzani autoimmune lymphoproliferative disease
Disease
436159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Disease
438159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159
STAT3-related early-onset multisystem autoimmune disease
Disease
538963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963
Combined immunodeficiency due to ITK deficiency
Disease
538958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958
Combined immunodeficiency due to CD70 deficiency
Disease
542301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301
Combined immunodeficiency due to CARMIL2 deficiency
Disease
619953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953
Familial hyperinflammatory lymphoproliferative immunodeficiency
Disease
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
252202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202
Constitutional mismatch repair deficiency syndrome
Disease
276399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399
Familial multinodular goiter
Disease
289539
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539
BAP1-related tumor predisposition syndrome
Disease
293822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Disease
313846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Disease
319328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319328
Inherited renal cancer-predisposing syndrome
Category
47044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044
Hereditary papillary renal cell carcinoma
Disease
97290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290
Familial papillary thyroid carcinoma with renal papillary neoplasia
Disease
99880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Hyperparathyroidism-jaw tumor syndrome
Disease
319462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Disease
404476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Malformation syndrome
422526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526
Hereditary clear cell renal cell carcinoma
Disease
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
2849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849
Perlman syndrome
Malformation syndrome
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Hereditary leiomyomatosis and renal cell cancer
Disease
357027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027
Hereditary retinoblastoma
Clinical subtype
404560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560
Familial atypical multiple mole melanoma syndrome
Disease
425003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003
Inherited digestive cancer-predisposing syndrome
Category
99361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361
Familial medullary thyroid carcinoma
Disease
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Multiple endocrine neoplasia type 2
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
104010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010
Intestinal polyposis syndrome
Clinical group
733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733
Familial adenomatous polyposis
Disease
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
99818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818
Turcot syndrome with polyposis
Clinical subtype
261584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584
Familial adenomatous polyposis due to 5q22.2 microdeletion
Etiological subtype
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
2929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929
Juvenile polyposis syndrome
Disease
79076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076
Juvenile polyposis of infancy
Clinical subtype
329971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971
Generalized juvenile polyposis/juvenile polyposis coli
Clinical subtype
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
2930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930
Cronkhite-Canada syndrome
Disease
157794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794
Hereditary mixed polyposis syndrome
Disease
157798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798
Serrated polyposis syndrome
Disease
220460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460
Attenuated familial adenomatous polyposis
Disease
247798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798
MUTYH-related attenuated familial adenomatous polyposis
Clinical subtype
247806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806
APC-related attenuated familial adenomatous polyposis
Clinical subtype
401911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911
AXIN2-related attenuated familial adenomatous polyposis
Clinical subtype
480536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536
MSH3-related attenuated familial adenomatous polyposis
Clinical subtype
447877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877
Polymerase proofreading-related adenomatous polyposis
Clinical subtype
454840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840
NTHL1-related attenuated familial adenomatous polyposis
Clinical subtype
443909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909
Hereditary nonpolyposis colon cancer
Clinical group
144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144
Lynch syndrome
Disease
440437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437
Familial colorectal cancer Type X
Disease
456333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333
Hereditary neuroendocrine tumor of small intestine
Disease
431149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149
Combined immunodeficiency due to OX40 deficiency
Disease
435953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953
Progeroid features-hepatocellular carcinoma predisposition syndrome
Disease
284343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343
DICER1 tumor-predisposition syndrome
Disease
568056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Disease
2198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198
Palmoplantar keratoderma-esophageal carcinoma syndrome
Disease
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
634518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518
Neurofibromatosis/schwannomatosis
Category
93921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921
Full schwannomatosis
Disease
637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637
Full NF2-related schwannomatosis
Disease
634461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461
Mosaic neurofibromatosis type 1
Disease
634475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475
Mosaic NF2-related schwannomatosis
Disease
634492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492
Mosaic schwannomatosis
Disease
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
589746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589746
Inherited gynecological cancer-predisposing syndrome
Category
443909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909
Hereditary nonpolyposis colon cancer
Clinical group
144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144
Lynch syndrome
Disease
440437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437
Familial colorectal cancer Type X
Disease
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Hereditary leiomyomatosis and renal cell cancer
Disease
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
619340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619340
Inherited hematologic cancer-predisposing syndrome
Category
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
71290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290
Familial platelet disorder with associated myeloid malignancy
Disease
319465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465
Inherited acute myeloid leukemia
Disease
585877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Etiological subtype
641375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375
B-lymphoblastic leukemia/lymphoma with t(17;19)
Etiological subtype
585909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Etiological subtype
585918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Etiological subtype
585929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Etiological subtype
585936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Etiological subtype
585942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Etiological subtype
585948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Etiological subtype
585956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Etiological subtype
641372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
Etiological subtype
524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524
Li-Fraumeni syndrome
Disease
488647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647
DDX41-related hematologic malignancy predisposition syndrome
Disease