Browse syndromes

ACTH-independent macronodular adrenal hyperplasiaAIMAH, Cushing disease, Adrenal, FamilialShow details
Acute Lymphoblastic Leukemia, Familial Clustering ofFamilial ALL, incl. Familial T-ALL, Familial B-ALLShow details
Acute Myelocytic Leukemia with Polyposis Coli & Colon Cancer Show details
Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutationFamilial AMLShow details
Adenosine Deaminase DeficiencySevere Combined Immunodeficiency (SCID) due to ADA-deficiencyShow details
Adrenocortical Cancer, Multiple Primary Malignancies in Patients with Show details
Agammaglobulinemia, X-linkedBruton Type AgammaglobulinemiaShow details
Aicardi syndrome Show details
Alagille SyndromeALGS1, ALGS2.Alagille-Watson syndromeShow details
Alcohol intakeEthanol intake, Alcohol addictionShow details
Alpha-1-Antitrypsin Deficiency Show details
Alpha-Fetoprotein, Hereditary Persistence ofHPAFPShow details
Alport syndrome with Diffuse Leiomyomatosis Show details
Amenorrhea-Galactorrhea syndrome Show details
Anal Cancer, Multiple Primary Malignancies in Patients with Show details
Androgen Insensitivity SyndromeCAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein SyndromeShow details
Angiolipomatosis, Familial Show details
Apert syndromeAcrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.Show details
Arrhenoblastoma and Thyroid Adenoma, Familialincl.: Arrhenoblastoma, Familial ClusteringShow details
Asthma Show details
Ataxia Pancytopenia syndromeMyelocerebellar disorderShow details
Ataxia TelangiectasiaAT, Louis-Bar syndromeShow details
Ataxia-Telangiectasia-Like Disorder ATLDShow details
Atopic Diseaseincl. Atopy, Eczema, Hay Fever, Asthma, AllergyShow details
Autoimmune Lymphoproliferative syndrome, type ICanale-Smith syndrome, ALPS type I (incl.: ALPS1A, ALPS1B), incl. Autoimmune Lymphoproliferative Disease (ALD)Show details
Autoimmune PolyEndocrinopathy Candidiasis Ectodermal DystrophyAPECEDShow details
Autosomal Dominant Polycystic Kidney Disease ADPKDShow details
Baller-Gerold syndromeCraniosynostosis with Radial DefectsShow details
Bannayan-Riley-Ruvalcaba syndromesubset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.Show details
Bardet-Biedl syndromeBBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndromeShow details
Barrett's Esophagus, Familial Show details
Basal Cell Nevus syndromeGorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCSShow details
Basal or Squamous Cell Skin Cancer, Familial Clustering ofFamilial Non-Melanoma Skin CancerShow details
Bazex-Dupré-Christol syndromeBazex syndromeShow details
Beckwith-Wiedemann syndromeBWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBSShow details
Biliary Tract Cancer, Familial Clustering ofincl. Familial Gall Bladder cancerShow details
Biliary Tract Cancer, Multiple Primary Malignancies in Patients with Show details
Birt-Hogg-Dubé syndromeBHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular FibromatosisShow details
Bladder Cancer, Multiple Primary Malignancies in Patients with Show details
Bladder-, Ureter, Renal Pyelum Cancer, Familial Clustering ofUrothelial Cancer, Familial, Transitional Cell Carcinoma of the Urinary Tract, FamilialShow details
Bloom syndrome Show details
Blue Rubber Bleb Nevus syndromeBean syndrome, BRBNSShow details
Bone Dysplasia with Malignant Change, HereditaryHereditary Bone Dysplasia with Malignant Fibrous Histiocytoma, Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma, DMS-MFHShow details
Brain Tumors, Familial Clustering ofincl. Familial GliomaShow details
Brain Tumors, Multiple Primary Malignancies in Patients with Show details
Breast Cancer, Familial Clustering of Show details
Breast Cancer, Multiple Primary Malignancies in Patients with Show details
Breast Cancer, Pyloric Stenosis and Endometriosis Show details
Byler diseasePFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic CholestasisShow details
Carcinoid, Familial Clustering ofincl.: Carcinoid, Intestinal; incl. Familial Ileal Endocrine Carcinoma (FIEC). Show details
Carcinoma of Sebacous Gland, Thyroid and Breast Show details
Cardiac Myxomas, Familial Clustering of Show details
Cardiofaciocutaneous syndromeCFC, CFCSShow details
Carney ComplexCarney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndromeShow details
Carney TriadCarney syndromeShow details
Carney-Stratakis syndromeCarney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyadShow details
Caroli diseaseCaroli syndromeShow details
Cartilage-Hair HypoplasiaCHH, Metaphyseal Dysplasia/Chondrodysplasia McKusick type Show details
CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental AnomaliesCBL-associated JMMLShow details
Celiac DiseaseCeliac SprueShow details
Cerebral Sarcoma, Familial Clustering of Show details
Cerumen Type Show details
Cervical Cancer, Familial Clustering of Show details
Cervical Cancer, Multiple Primary Malignancies in Patients with Show details
Chediak-Higashi syndrome Show details
Cheilitis Glandularis Show details
CHEK2-associated cancerincl. Hereditary Breast and Colorectal Cancer, HBCCShow details
Chemodectoma, Intra-abdominal, with Cutaneous Angiolipomas Show details
CherubismFamilial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic DiseaseShow details
Childhood Leukemia and Lymphoma, Mulitple Primary Malignancies in Patients with  Show details
CHIME syndromeZunich Neuroectodermal SyndromeShow details
Chondrosarcoma and Breast Cancer  Show details
Chondrosarcoma, Familial Clustering of Show details
Chordoma, Familial Clustering of Show details
Chronic Inflammatory Bowel Diseaseincl. Chronic Ulcerative Colitis, Crohn's diseaseShow details
Chronic Lymphocytic Leukemia, Familial Clustering ofFamilial CLLShow details
Chronic Lymphocytic Leukemia, Multiple Primary Malignancies in Patients withCLL and second Primary TumorsShow details
Chronic Mucocutaneous Candidiasis syndromeCMC syndromeShow details
Chronic Myelocytic Leukemia, Familial Clustering ofFamilial CML, incl.: Familial Chronic Myelocytic Leukemia-Like Syndrome, Familial Chronic Neutrophilic LeukemiaShow details
Chronic Obstructive Pulmonary DiseaseCOPDShow details
Chuvash Polycythemia Erythrocytosis, Familial type 2Show details
Cleft Lip/Palate and Wilms' Tumor, Familial Show details
CLOVE syndromeCongenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi Show details
Colonic Polyps, Lipmatosis, Pituitary Adenoma, Renal Cancer and Testicular Cancer Show details
Colorectal Cancer, Familial Clustering of Show details
Colorectal Cancer, Multiple Primary Malignancies in Patients with Show details
Colorectal Carcinoids, Multiple Primary Malignancies in Patients with Show details
Common Variable ImmunodeficiencyCommon Variable Hypogammaglobulinemia, Late-onset Immunoglobulin DeficiencyShow details
Congenital Central Hypoventilation SyndromeCCHS, Ondine Curse, incl. Ondine-Hirschsprung DiseaseShow details
Congenital DyskeratosisZinsser-Engman-Cole syndrome, Dyskeratosis CongenitaShow details
Congenital Generalized Fibromatosisincl.: Juvenile Myofibromatosis, Infantile MyofibrosisShow details
Congenital Hereditary LymphedemaHereditary Lymphedema type I, Milroy's disease, Nonne-Milroy LymphedemaShow details
Congenital Hypothalamic Hamartoma syndromeCHHSShow details
Constitutional deletion of 18pdel(18p)Show details
Constitutional Mismatch Repair Deficiency SyndromeCMMR-D, Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type IIIShow details
Costello syndromeincl.: Facio-Cutaneous-Skeletal syndromeShow details
Cowden syndromeCS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndromeShow details
Craniofacial Fibrous Dysplasia Show details
Craniopharyngioma, Familial Show details
Cronkhite-Canada syndrome Show details
Currarino syndromeCurrarino Triad, Sacral Agenesis syndrome, incl.: Hereditary Presacral Teratoma, Presacral Teratoma with Sacral Dysgenesis,Show details
Curry-Jones syndrome  Show details
Cutaneous Malignant Melanoma, Multiple Primary Malignancies in Patients with Show details
Cystic FibrosisCFShow details