SE-ATLAS

Neoplasie, endokrine multiple Neoplasie, endokrine multiple, Typ 4 PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom Cronkhite-Canada-Syndrom WAGR-Syndrom Werner-Syndrom Wiskott-Aldrich-Syndrom Multiple endokrine Neoplasie Typ 2A Multiple endokrine Neoplasie Typ 2B Familiärer multinodulärer Kropf Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom Nierenzellkarzinom, papilläres, familiäres Warsaw-Breakage-Syndrom Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation APC-abhängige adenomatöse attenuierte familiäre Polyposis Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3 Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation Variables Aneuploidie-Mosaik-Syndrom Schilddrüsenkarzinom, medulläres, familiäres Blue rubber bleb-Naevus Immundefekt, kombinierter, durch OX40-Mangel Hereditäres Krebsprädispositionssyndrom des Verdauungssystems Aicardi-Syndrom Alagille-Syndrom Autoimmun-lymphoproliferatives Syndrom mit rezidivierenden Infekten Autoimmun-lymphoproliferative Krankheit vom Typ Dianzani Hemihyperplasie, isolierte Fanconi-Anämie Polyposis-Syndrom, gemischtes, hereditäres Ataxia-Teleangiectasia Serratiertes Polyposissyndrom Bannayan-Riley-Ruvalcaba-Syndrom Familiäres kolorektales Karzinom Typ X Beckwith-Wiedemann-Syndrom Birt-Hogg-Dubé-Syndrom Nijmegen-Breakage-Syndrom-ähnliche Krankheit Polymalformatives genetisches Syndrom mit erhöhter Krebsanfälligkeit Diamond-Blackfan-Anämie Bloom-Syndrom Xeroderma pigmentosum/Cockayne-Syndrom-Komplex Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Papilläres Schilddrüsenkarzinom mit papillärem Nierenzellkarzinom Familiäres atpisches multiples Muttermal- und Melanomsyndrom Lynch-Syndrom Brust- und/oder Ovarialkrebssyndrom, hereditäres Palmoplantarkeratose - Ösophageales Karzinom Autoimmun-lymphoproliferatives Syndrom NTHL1-abhängige adenomatöse attenuierte familiäre Polyposis Cockayne-Syndrom Hämatologische Malignität-Prädispositionssyndrom, DDX41-assoziiertes Cowden syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Denys-Drash syndrome Bazex syndrome Juvenile polyposis of infancy Xeroderma pigmentosum variant Generalized juvenile polyposis/juvenile polyposis coli Silver-Russell syndrome due to a point mutation MSH3-related attenuated familial adenomatous polyposis Ollier disease Constitutional mismatch repair deficiency syndrome Melanoma and neural system tumor syndrome Epidermodysplasia verruciformis Attenuated familial adenomatous polyposis PTEN hamartoma tumor syndrome Frasier syndrome Simpson-Golabi-Behmel syndrome Gorlin syndrome Polymerase proofreading-related adenomatous polyposis Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome X-linked lymphoproliferative disease Kostmann syndrome COFS syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Ataxia-telangiectasia-like disorder Familial adenomatous polyposis due to 5q22.2 microdeletion Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Alagille syndrome due to 20p12 microdeletion LIG4 syndrome Turcot syndrome with polyposis Alagille syndrome due to a JAG1 point mutation AXIN2-related attenuated familial adenomatous polyposis Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Noonan syndrome with multiple lentigines Alagille syndrome due to a NOTCH2 point mutation Hereditary nonpolyposis colon cancer Hereditary leiomyomatosis and renal cell cancer Li-Fraumeni syndrome Familial ovarian cancer Hereditary site-specific ovarian cancer syndrome Common variable immunodeficiency Oligodontia-cancer predisposition syndrome Hyperparathyroidism-jaw tumor syndrome N syndrome 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-Krankheit Krebsprädispositionssyndrom, hereditäres STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit Xeroderma pigmentosum Proteus-ähnliches Syndrom Lymphoproliferative Krankheit, autosomal-rezessive Lymphoproliferatives Syndrom Autoimmun-lymphoproliferatives Syndrom durch CTLA4-Haploinsuffizienz Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Vererbtes Krebsprädispositionssyndrom durch biallelische BRCA2-Genmutationen MUTYH-abhängige adenomatöse attenuierte familiäre Polyposis Allgemeine Entwicklungsverzögerung-Lungenzysten-Großwuchs-Wilms-Tumor-Syndrom Costello-Syndrom