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 syndrome DDX41-related hematologic malignancy predisposition syndrome 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 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