SE-ATLAS

Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 PCNA-related progressive neurodegenerative photosensitivity syndrome Cronkhite-Canada syndrome WAGR syndrome Werner syndrome Wiskott-Aldrich syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial multinodular goiter Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MITF-related melanoma and renal cell carcinoma predisposition syndrome Hereditary papillary renal cell carcinoma Warsaw breakage syndrome Rubinstein-Taybi syndrome due to CREBBP mutations APC-related attenuated familial adenomatous polyposis Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Beckwith-Wiedemann syndrome due to NSD1 mutation Mosaic variegated aneuploidy syndrome Familial medullary thyroid carcinoma Blue rubber bleb nevus Combined immunodeficiency due to OX40 deficiency Inherited digestive cancer-predisposing syndrome Aicardi syndrome Alagille syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Dianzani autoimmune lymphoproliferative disease Isolated hemihyperplasia Fanconi anemia Hereditary mixed polyposis syndrome Ataxia-telangiectasia Serrated polyposis syndrome Bannayan-Riley-Ruvalcaba syndrome Familial colorectal cancer Type X Beckwith-Wiedemann syndrome Birt-Hogg-Dubé syndrome Nijmegen breakage syndrome-like disorder Polymalformative genetic syndrome with increased risk of developing cancer Diamond-Blackfan anemia Bloom syndrome Xeroderma pigmentosum-Cockayne syndrome complex Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Familial papillary thyroid carcinoma with renal papillary neoplasia Familial atypical multiple mole melanoma syndrome Lynch syndrome Hereditary breast and/or ovarian cancer syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Autoimmune lymphoproliferative syndrome NTHL1-related attenuated familial adenomatous polyposis Cockayne-Syndrom Hämatologische Malignität-Prädispositionssyndrom, DDX41-assoziiertes Cowden-Syndrom Cockayne-Syndrom Typ 1 Cockayne-Syndrom Typ 2 Cockayne-Syndrom Typ 3 Denys-Drash-Syndrom Bazex-Syndrom Polyposis-Syndrom, juveniles, frühkindliche Form Xeroderma pigmentosum Variante (XPV) Generalisierte juvenile Polyposis/juvenile Polyposis coli Silver-Russell-Syndrom durch Punktmutation MSH3-abhängige adenomatöse attenuierte familiäre Polyposis Ollier-Krankheit Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles Melanom und Tumorsyndrom des Nervensystems Epidermodysplasia verruciformis Polyposis , adenomatöse attenuierte familiäre PTEN-Hamartom-Tumor-Syndrom Frasier-Syndrom Simpson-Golabi-Behmel-Syndrom Gorlin-Syndrom Polymerase-Proofreading-assoziierte adenomatöse Polyposis Segmentaler Auswuchs-Lipomatose-arteriovenöse Fehlbildung-epidermaler Naevus-Syndrom Lymphoproliferative Krankheit, X-chromosomale Kostmann-Syndrom COFS-Syndrom Noonan-ähnliches Syndrom mit juveniler myelomonozytischer Leukämie Ataxia-Teleangiectasia-ähnliche Krankheit Polyposis, adenomatöse familiäre, durch Mikrodeletion 5q22.2 Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom Alagille-Syndrom durch Mikrodeletion 20p12 LIG4-Syndrom Turcot-Syndrom mit Polyposis Alagille-Syndrom durch JAG1-Gen-Punktmutationen AXIN2-abhängige adenomatöse attenuierte familiäre Polyposis Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom Noonan-Syndrom mit multiplen Lentigines Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen Kolonkarzinom, hereditäres nicht-polypöses Hereditäre Leiomyomatose mit Nierenzellkrebs Li-Fraumeni-Syndrom Ovarialkrebs, familiärer Ovarialkarzinom, lagespezifisches Immundefektsyndrom, variables Oligodontie-Krebs-Prädispositionssyndrom Hyperparathyreoidismus-Kiefertumor-Syndrom (HPT-JT) N-Syndrom McCune-Albright syndrome Intestinal polyposis syndrome Muir-Torre syndrome Hereditary clear cell renal cell carcinoma Familial platelet disorder with associated myeloid malignancy Full NF2-related schwannomatosis Nijmegen breakage syndrome Noonan syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Hereditary neuroendocrine tumor of small intestine Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Hereditary retinoblastoma Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Familial adenomatous polyposis Full schwannomatosis Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Proteus syndrome Silver-Russell syndrome due to 11p15 microduplication Dyskeratosis congenita Progeroid features-hepatocellular carcinoma predisposition syndrome Schöpf-Schulz-Passarge syndrome BAP1-related tumor predisposition syndrome Rubinstein-Taybi syndrome Saethre-Chotzen syndrome Schinzel-Giedion syndrome Perlman syndrome Tuberous sclerosis complex Shwachman-Diamond syndrome Silver-Russell syndrome Maffucci syndrome Gardner syndrome Peutz-Jeghers syndrome Sotos syndrome Beckwith-Wiedemann syndrome due to 11p15 microduplication RAS-associated autoimmune leukoproliferative disease Rothmund-Thomson syndrome type 2 Inherited renal cancer-predisposing syndrome Juvenile polyposis syndrome Tyrosinemia type 1 Von Hippel-Lindau disease Inherited cancer-predisposing syndrome STAT3-related early-onset multisystem autoimmune disease Xeroderma pigmentosum Proteus-like syndrome Combined immunodeficiency due to CD27 deficiency Lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations MUTYH-related attenuated familial adenomatous polyposis Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome Costello syndrome