| Syndrome | Synonym | |
| ACTH-independent macronodular adrenal hyperplasia | AIMAH, Cushing disease, Adrenal, Familial | Show details |
| Acute Lymphoblastic Leukemia, Familial Clustering of | Familial ALL, incl. Familial T-ALL, Familial B-ALL | Show details |
| Acute Myelocytic Leukemia with Polyposis Coli & Colon Cancer | | Show details |
| Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation | Familial AML | Show details |
| Adenosine Deaminase Deficiency | Severe Combined Immunodeficiency (SCID) due to ADA-deficiency | Show details |
| Adrenocortical Cancer, Multiple Primary Malignancies in Patients with | | Show details |
| Agammaglobulinemia, X-linked | Bruton Type Agammaglobulinemia | Show details |
| Aicardi syndrome | | Show details |
| Alagille Syndrome | ALGS1, ALGS2.Alagille-Watson syndrome | Show details |
| Alcohol intake | Ethanol intake, Alcohol addiction | Show details |
| Alpha-1-Antitrypsin Deficiency | | Show details |
| Alpha-Fetoprotein, Hereditary Persistence of | HPAFP | Show 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 Syndrome | CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome | Show details |
| Angiolipomatosis, Familial | | Show details |
| Apert syndrome | Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s. | Show details |
| Arrhenoblastoma and Thyroid Adenoma, Familial | incl.: Arrhenoblastoma, Familial Clustering | Show details |
| Asthma | | Show details |
| Ataxia Pancytopenia syndrome | Myelocerebellar disorder | Show details |
| Ataxia Telangiectasia | AT, Louis-Bar syndrome | Show details |
| Ataxia-Telangiectasia-Like Disorder | ATLD | Show details |
| Atopic Disease | incl. Atopy, Eczema, Hay Fever, Asthma, Allergy | Show details |
| Autoimmune Lymphoproliferative syndrome, type I | Canale-Smith syndrome, ALPS type I (incl.: ALPS1A, ALPS1B), incl. Autoimmune Lymphoproliferative Disease (ALD) | Show details |
| Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy | APECED | Show details |
| Autosomal Dominant Polycystic Kidney Disease | ADPKD | Show details |
| Baller-Gerold syndrome | Craniosynostosis with Radial Defects | Show details |
| Bannayan-Riley-Ruvalcaba syndrome | subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s. | Show details |
| Bardet-Biedl syndrome | BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome | Show details |
| Barrett's Esophagus, Familial | | Show details |
| Basal Cell Nevus syndrome | Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS | Show details |
| Basal or Squamous Cell Skin Cancer, Familial Clustering of | Familial Non-Melanoma Skin Cancer | Show details |
| Bazex-Dupré-Christol syndrome | Bazex syndrome | Show details |
| Beckwith-Wiedemann syndrome | BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS | Show details |
| Biliary Tract Cancer, Familial Clustering of | incl. Familial Gall Bladder cancer | Show details |
| Biliary Tract Cancer, Multiple Primary Malignancies in Patients with | | Show details |
| Birt-Hogg-Dubé syndrome | BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis | Show details |
| Bladder Cancer, Multiple Primary Malignancies in Patients with | | Show details |
| Bladder-, Ureter, Renal Pyelum Cancer, Familial Clustering of | Urothelial Cancer, Familial, Transitional Cell Carcinoma of the Urinary Tract, Familial | Show details |
| Bloom syndrome | | Show details |
| Blue Rubber Bleb Nevus syndrome | Bean syndrome, BRBNS | Show details |
| Bone Dysplasia with Malignant Change, Hereditary | Hereditary Bone Dysplasia with Malignant Fibrous Histiocytoma, Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma, DMS-MFH | Show details |
| Brain Tumors, Familial Clustering of | incl. Familial Glioma | Show 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 disease | PFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic Cholestasis | Show details |
| Carcinoid, Familial Clustering of | incl.: 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 syndrome | CFC, CFCS | Show details |
| Carney Complex | Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome | Show details |
| Carney Triad | Carney syndrome | Show details |
| Carney-Stratakis syndrome | Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad | Show details |
| Caroli disease | Caroli syndrome | Show details |
| Cartilage-Hair Hypoplasia | CHH, Metaphyseal Dysplasia/Chondrodysplasia McKusick type | Show details |
| CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies | CBL-associated JMML | Show details |
| Celiac Disease | Celiac Sprue | Show 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 cancer | incl. Hereditary Breast and Colorectal Cancer, HBCC | Show details |
| Chemodectoma, Intra-abdominal, with Cutaneous Angiolipomas | | Show details |
| Cherubism | Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease | Show details |
| Childhood Leukemia and Lymphoma, Mulitple Primary Malignancies in Patients with | | Show details |
| CHIME syndrome | Zunich Neuroectodermal Syndrome | Show details |
| Chondrosarcoma and Breast Cancer | | Show details |
| Chondrosarcoma, Familial Clustering of | | Show details |
| Chordoma, Familial Clustering of | | Show details |
| Chronic Inflammatory Bowel Disease | incl. Chronic Ulcerative Colitis, Crohn's disease | Show details |
| Chronic Lymphocytic Leukemia, Familial Clustering of | Familial CLL | Show details |
| Chronic Lymphocytic Leukemia, Multiple Primary Malignancies in Patients with | CLL and second Primary Tumors | Show details |
| Chronic Mucocutaneous Candidiasis syndrome | CMC syndrome | Show details |
| Chronic Myelocytic Leukemia, Familial Clustering of | Familial CML, incl.: Familial Chronic Myelocytic Leukemia-Like Syndrome, Familial Chronic Neutrophilic Leukemia | Show details |
| Chronic Obstructive Pulmonary Disease | COPD | Show details |
| Chuvash Polycythemia | Erythrocytosis, Familial type 2 | Show details |
| Cleft Lip/Palate and Wilms' Tumor, Familial | | Show details |
| CLOVE syndrome | Congenital 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 Immunodeficiency | Common Variable Hypogammaglobulinemia, Late-onset Immunoglobulin Deficiency | Show details |
| Congenital Central Hypoventilation Syndrome | CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease | Show details |
| Congenital Dyskeratosis | Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita | Show details |
| Congenital Generalized Fibromatosis | incl.: Juvenile Myofibromatosis, Infantile Myofibrosis | Show details |
| Congenital Hereditary Lymphedema | Hereditary Lymphedema type I, Milroy's disease, Nonne-Milroy Lymphedema | Show details |
| Congenital Hypothalamic Hamartoma syndrome | CHHS | Show details |
| Constitutional deletion of 18p | del(18p) | Show details |
| Constitutional Mismatch Repair Deficiency Syndrome | CMMR-D, Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III | Show details |
| Costello syndrome | incl.: Facio-Cutaneous-Skeletal syndrome | Show details |
| Cowden syndrome | CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome | Show details |
| Craniofacial Fibrous Dysplasia | | Show details |
| Craniopharyngioma, Familial | | Show details |
| Cronkhite-Canada syndrome | | Show details |
| Currarino syndrome | Currarino 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 Fibrosis | CF | Show details |