ATAXIA-TELANGIECTASIA
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(OMIM:208900)
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ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH
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(OMIM:208910)
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Acute erythroid leukemia
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(Orphanet:318)
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Aggressive systemic mastocytosis
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(Orphanet:98850)
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Ataxia-telangiectasia
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(Orphanet:100)
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Bloom syndrome
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(Orphanet:125)
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Constitutional mismatch repair deficiency syndrome
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(Orphanet:252202)
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Cutaneous mastocytosis
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(Orphanet:66646)
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Deafness - lymphedema - leukemia
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(Orphanet:3226)
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Diffuse cutaneous mastocytosis
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(Orphanet:79456)
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Down syndrome
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(Orphanet:870)
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Erythromelalgia
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(Orphanet:1956)
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Essential thrombocythemia
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(Orphanet:3318)
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FANCONI ANEMIA, COMPLEMENTATION GROUP A
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(OMIM:227650)
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FANCONI ANEMIA, COMPLEMENTATION GROUP C
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(OMIM:227645)
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FANCONI ANEMIA, COMPLEMENTATION GROUP D2
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(OMIM:227646)
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FANCONI ANEMIA, COMPLEMENTATION GROUP E
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(OMIM:600901)
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FANCONI ANEMIA, COMPLEMENTATION GROUP G
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(OMIM:614082)
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FORKHEAD BOX O4
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(OMIM:300033)
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Familial thrombocytosis
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(Orphanet:71493)
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Fanconi anemia
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(Orphanet:84)
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Hairy cell leukemia variant
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(Orphanet:300878)
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Juvenile xanthogranuloma
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(Orphanet:158000)
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Kostmann syndrome
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(Orphanet:99749)
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MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
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(OMIM:257300)
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Mastocytosis
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(Orphanet:98292)
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Megalencephaly-capillary malformation-polymicrogyria syndrome
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(Orphanet:60040)
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Mosaic variegated aneuploidy syndrome
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(Orphanet:1052)
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Neurofibromatosis type 1
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(Orphanet:636)
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Non-histaminic angioedema
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(Orphanet:658)
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Non-polyposis Turcot syndrome
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(Orphanet:99817)
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Noonan syndrome with multiple lentigines
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(Orphanet:500)
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PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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(OMIM:614742)
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PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
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(OMIM:614743)
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Primary hypereosinophilic syndrome
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(Orphanet:314950)
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RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
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(OMIM:614470)
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Retinoblastoma
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(Orphanet:790)
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Shwachman-Diamond syndrome
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(Orphanet:811)
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Systemic mastocytosis
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(Orphanet:2467)
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Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
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(Orphanet:98849)
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T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1
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(OMIM:187040)
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T-CELL LEUKEMIA/LYMPHOMA 1A
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(OMIM:186960)
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T-CELL LEUKEMIA/LYMPHOMA 4
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(OMIM:186860)
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WT limb-blood syndrome
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(Orphanet:3466)
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Waldenström macroglobulinemia
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(Orphanet:33226)
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Wiskott-Aldrich syndrome
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(Orphanet:906)
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