(click on headers to sort columns)
| ID | Disease Name(↓) | Status(↓) | Created(↓) | Updated(↓) | OMIM |
|---|---|---|---|---|---|
| 10048 | Down syndrome | DONE | 2017-07 | - | 190685 |
| 10050 | Predisposition to endometrial carcinoma | Need_an_author | - | - | 608089 |
| 10076 | Familial kidney cancer | Need_an_author | - | - | - |
| 10086 | Familial neuroblastoma | Need_an_author | - | - | 256700 613013 613014 613015 613016 613017 |
| 10094 | Familial chordoma | Reserved | - | - | 215400 |
| 10123 | Familial glioma | DONE | 2018-09 | - | |
| 10154 | Metachondromatosis | Need_an_author | - | - | 156250 |
| 10155 | Spondyloenchondro dysplasia | Need_an_author | - | - | 271550 607944 |
| 10156 | Dysspondyloenchondromatosis | Need_an_author | - | - | - |
| 10160 | Generalized enchondromatoses | Need_an_author | - | - | 137360 166000 614569 614875 |
| 10168 | Familial lung cancer | Need_an_author | - | - | 608935 |
| 10181 | Cheirospondyloenchondromatosis | Need_an_author | - | - | - |
| 10112 | Susceptibility to ulcerative colitis | Need_an_author | - | - | - |
| 10077 | Isolated mucocutaneous melanotic pigmentation (IMMP) | Need_an_author | - | - | - |
| 10029 | Familial /sporadic gastrointestinal stromal tumors (GISTs) | DONE | 1998-09 | 2000-06 | 606764 |
| 10005 | Naevoid basal cell carcinoma syndrome (NBCS) | DONE | 1997-09 | - | 109400 |
| 10164 | Saethre-Chotzen syndrome | Need_an_author | - | - | 101400 |
| 10044 | Bannayan-Riley-Ruvalcaba syndrome | DONE | 1998-11 | - | 153480 |
| 10032 | WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome) | DONE | 1999-10 | - | 194072 |
| 10008 | Multiple endocrine neoplasia type 1 (MEN1) | DONE | 2000-03 | - | 131100 |
| 10009 | Multiple endocrine neoplasia type 2 (MEN2) | DONE | 2001-01 | - | 171400 |
| 10071 | Glycogen storage disease type I (GSD I) | DONE | 2012-06 | - | 232200 232220 232240 232300 232400 232500 232600 232700 232800 240600 261750 306000 611556 613027 |
| 10037 | Beckwith-Wiedemann syndrome | DONE | 2000-11 | - | 130650 |
| 10049 | Lynch Syndrome | DONE | 2001-09 | 2017-09 | 120435 120436 185535 600259 600678 609309 609310 613244 614337 614350 |
| 10157 | Genochondromatosis | Need_an_author | - | - | 137360 |
| 10151 | Enchondromatosis | DONE | 2008-07 | - | 137360 156250 166000 271550 607944 |
| 10132 | Carney triad | DONE | 2008-12 | - | 604287 |
| 10130 | Familial liver adenomatosis | DONE | 2006-03 | - | 142330 |
| 10087 | Hirschsprung's disease | Need_an_author | - | - | 142623 600155 600156,606874 606875 608462 611644 613711 613712 |
| 10070 | Second breast cancer syndrome (BRCA2) | Need_an_author | - | - | 600185 |
| 10100 | Familial tylosis | DONE | 2009-07 | - | 148500 148600 |
| 10082 | Currarino syndrome | DONE | 2007-06 | - | 176450 |
| 10115 | Melanoma-Astrocytoma syndrome | DONE | 2006-04 | - | 155755 |
| 10064 | Muir-Torre syndrome | Need_an_author | - | - | 158320 |
| 10122 | Schwannomatosis | DONE | 2006-08 | - | 162091 |
| 10153 | Maffucci syndrome | DONE | 2008-07 | - | 614569 |
| 10158 | CEBPA-associated familial acute myeloid leukemia | Need_an_author | - | - | - |
| 10128 | Chediak-Higashi Syndrome | DONE | 2012-12 | - | 214500 |
| 10095 | Generalised basaloid follicular hamartoma syndrome | Need_an_author | - | - | 605827 |
| 10169 | Rombo syndrome | DONE | 2011-09 | - | 180730 |
| 10161 | Polycystic ovary syndrome / Stein-Leventhal syndrome | Need_an_author | - | - | 184700 |
| 10103 | Stiff-person syndrome | DONE | 2006-12 | - | 184850 |
| 10180 | Familial Myeloproliferative Disorders | DONE | 2015-09 | - | 187950 254450 601626 |
| 10015 | Cockayne syndrome | DONE | 2000-10 | - | 133540 216400 |
| 10007 | Neurofibromatosis type 2 (NF2) | DONE | 1997-09 | 1998-03::2001-02 | 101000 |
| 10006 | Neurofibromatosis type 1 (NF1) | DONE | 1997-09 | 2006-02 | 162200 |
| 10012 | Familial adenomatous polyposis (FAP) | DONE | 1998-06 | - | 175100 |
| 10052 | Hyperparathyroidism-Jaw tumor syndrome (HPT-JT) | DONE | 1999-05 | - | 145001 |
| 10003 | Ataxia telangiectasia (A-T) | DONE | 1998-04 | 1999-10::2002-10::2016-10 | 208900 |
| 10020 | Nijmegen breakage syndrome | DONE | 1998-10 | 1999-10::2002-10 | 251260 613078 |
| 10013 | Dysplastic nevus syndrome (DNS) | DONE | 1999-10 | - | 155600 155601 |
| 10039 | Familial chronic lymphocytic leukaemia | DONE | 1999-10 | - | 151400 |
| 10051 | Rhabdoid predisposition syndrome | DONE | 1999-03 | 2000-01::2000-02 | 601607 609322 13325 |
| 10059 | Familial monosomy 7 syndrome | DONE | 2001-07 | - | 252270 |
| 10021 | Rothmund-Thomson syndrome (RTS) | DONE | 1998-10 | 2001-10 | 268400 |
| 10061 | Multiple osteochondromas (MO) | DONE | 2000-01 | 2002-03::2008-07 | 133700 133701 |
| 10129 | Schinzel-Giedion midface retraction syndrome | DONE | 2006-04 | - | 269150 |
| 10126 | Pallister Hall syndrome (PHS) | DONE | 2007-01 | - | 146510 |
| 10040 | Diamond-Blackfan anemia (DBA) | DONE | 1999-05 | 2007-02 | 105650 205900 300946 606129 606164 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 |
| 10041 | Multiple self-healing squamous epithelioma | DONE | 2008-09 | - | 132800 |
| 10127 | Hereditary multiple cutaneous leiomyomatosis | DONE | 2008-10 | - | 150800 |
| 10166 | Acrodermatitis enteropathica | Need_an_author | - | - | 201100 |
| 10167 | Mosaic variegated aneuploidy syndrome | DONE | 2011-12 | - | 257300 614114 |
| 10018 | Cowden disease | DONE | 2000-06 | - | 158350 612359 615106 |
| 10028 | X-linked lymphoproliferative disease (XLP) | DONE | 2012-04 | - | 308240 300635 |
| 10057 | Paget's disease of bone | DONE | 2013-04 | - | 602080 |
| 10047 | Familial Juvenile Polyposis Syndrome | DONE | 2013-05 | - | 174900 |
| 10091 | Birt-Hogg-Dubé syndrome (BHDS) | DONE | 2006-02 | 2014-01 | 135150 |
| 10031 | Retinoblastoma (hereditary predisposition) | DONE | 1998-10 | 2019-06 | 180200 |
| 10177 | Hermansky-Pudlak syndrome | Need_an_author | - | - | 203300 608233 614171 614072 614073 614074 614075 614076 614077 |
| 10046 | Hemihyperplasia isolated | DONE | 2007-04 | - | 235000 |
| 10179 | Monocytopenia and mycobacterial infection syndrome | Need_an_author | - | - | 614172 |
| 10016 | Dubowitz syndrome | DONE | 1998-02 | - | 223370 |
| 10121 | MUTYH associated polyposis | DONE | 2006-05 | - | 132600 |
| 10125 | Mulibrey nanism | DONE | 2015-12 | - | 253250 |
| 10137 | Congenital myofibromatosis | DONE | 2007-09 | - | 228550 615293 |
| 10146 | Sjogren syndrome / Gougerot-Sjogren syndrome | Need_an_author | - | - | 270150 |
| 10109 | De Sanctis-Cacchione Syndrome | DONE | 2019-08 | - | 278800 |
| 10030 | Piebaldism | DONE | 1998-09 | 2000-06 | 172800 |
| 10147 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Need_an_author | - | - | 175050 |
| 10152 | Ollier disease | DONE | 2008-07 | - | 166000 |
| 10019 | Epidermodysplasia verruciformis | DONE | 1998-06 | - | 226400 305350 |
| 10075 | Costello syndrome | DONE | 2002-04 | - | 218040 |
| 10170 | X-linked thrombocytopenia (THC1/XLT) | DONE | 2019-08 | - | 313900 |
| 10042 | Trichothiodystrophy (TTD) | DONE | 2000-10 | - | 234050 601675 616390 616395 |
| 10141 | Weaver syndrome | DONE | 2007-12 | - | 277590 |
| 10023 | Bruton's agammaglobulinemia | DONE | 2001-01 | - | 300300 300755 |
| 10073 | Congenital neutropenia | DONE | 2002-05 | - | 202700 610738 |
| 10084 | LEOPARD syndrome | DONE | 2004-12 | - | 151100 611554 613707 |
| 10011 | Li-Fraumeni syndrome | DONE | 2000-12 | - | 151623 609265 609266 |
| 10163 | Plummer-Vinson syndrome (or Paterson-Kelly syndrome) | Need_an_author | - | - | - |
| 10097 | Brooke-Spiegler syndrome | DONE | 2011-11 | - | 605041 132700 601606 |
| 10088 | Familial melanoma | DONE | 2005-04 | - | 155600 155601 608035 606719 609048 612263 613099 613972 614456 615134 615848 |
| 10085 | Noonan syndrome | DONE | 2005-06 | - | 163950 605275 609942 610733 611553 613224 613706 615355 |
| 10065 | Lhermitte-Duclos disease | DONE | 2001-10 | - | 158350 |
| 10145 | Proteus syndrome | DONE | 2008-04 | - | 176920 |
| 10176 | Dystrophic epidermolysis bullosa (Hallopeau-Siemens type) | Need_an_author | - | - | 226600 |
| 10033 | Trisomy 8 | Need_an_author | - | - | - |
| 10017 | Werner syndrome | DONE | 2000-10 | - | 277700 |
| 10004 | Xeroderma pigmentosum | DONE | 2000-10 | - | 278700 278720 278730 278740 278750 278760 278780 278800 208900 610651 194400 |
| 10060 | Familial platelet storage pool deficiency | Need_an_author | - | - | 185050 |
| 10026 | Turcot syndrome | DONE | 2005-08 | - | 276300 |
| 10165 | familial cardiac myxoma | Need_an_author | - | - | 255960 |
| 10102 | Oligodontia-colorectal cancer syndrome / Tooth agenesis-colorectal cancer syndrome | Need_an_author | - | - | 608615 |
| 10054 | Familial breast-ovarian cancer | Need_an_author | - | - | 604370 612555 613399 614291 |
| 10068 | Hereditary pancreatic cancer | DONE | 2000-12 | - | 260350 606856 613347 613348 |
| 10062 | Hereditary breast cancer | DONE | 2000-11 | - | 114480 |
| 10055 | Hereditary prostate cancer | DONE | 2008-06 | - | 300147 601518 602759 608658 609558 610321 610997 614731 |
| 10043 | Hereditary paraganglioma (PGL) | DONE | 2002-02 | - | 115310 168000 601650 605373 |
| 10124 | Hereditary adrenocortical carcinoma | Need_an_author | - | - | 202300 |
| 10150 | Palmoplantar hyperkeratosis with a predisposition to squamous cell carcinoma of the skin and XX sex reversal | Need_an_author | - | - | 610644 |
| 10104 | Aicardi syndrome / Agenesis of corpus callosum with chorioretinal abnormality | Need_an_author | - | - | 304050 |
| 10131 | Hereditary lymphoproliferative disorders | Need_an_author | - | - | 151400 208900 240500 251260 257300 300300 300635 300755 308240 601859 603909 605233 616100 607594 613078 613493 613494 613495 613496 614114 614699 614700 615767 615577 |
| 10171 | X-linked neutropaenia | Need_an_author | - | - | 300299 |
| 10092 | MUTYH-Associated Polyposis (MAP) | DONE | 2006-06 | - | 132600 |
| 10135 | Familial thymoma / familial thymic neoplasia | Need_an_author | - | - | 274230 |
| 10142 | Holoprosencephaly-diencephalic hamartoblastoma (HDH). | DONE | 2007-09 | - | - |
| 10080 | Carney complex (CNC) | DONE | 2004-08 | - | 160980 605244 |
| 10119 | Hereditary desmoid disease. | DONE | 2006-08 | - | 135290 |
| 10058 | Shwachman-Diamond syndrome (SDS) | DONE | 2005-03 | - | 260400 |
| 10001 | Fanconi anemia | DONE | 1998-02 | 2002-06::2016-04 | 227650 227645 |
| 10116 | Autoimmune lymphoproliferative syndrome | DONE | 2006-07 | - | 601859 603909 616100 |
| 10027 | Wiskott-Aldrich Syndrome (WAS) | DONE | 2012-01 | - | 301000 614493 |
| 10056 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) | DONE | 1999-12 | - | 112250 |
| 10053 | Hereditary papillary renal cell carcinoma | DONE | 1999-04 | - | 605074 |
| 10067 | Familial nervous system tumour syndromes | DONE | 2001-01 | - | - |
| 10081 | Familial clear cell renal cancer | DONE | 2003-10 | - | 144700 |
| 10111 | Dianzani autoimmune lymphoproliferative disease (DALD) | DONE | 2006-07 | - | 605233 |
| 10134 | Alport syndrome and diffuse leiomyomatosis | DONE | 2008-12 | - | 308940 |
| 10078 | Hereditary diffuse gastric cancer (HDGC) | DONE | 2009-07 | - | |
| 10089 | Waardenburg syndrome (WS) | DONE | 2005-02 | - | 148820 193500 193510 277580 600193 606662 608890 611584 613265 613266 |
| 10022 | Oculocutaneous Albinism | DONE | 2012-08 | 2015-04 | 203100 203200 203290 605962 606574 |
| 10178 | Familial isolated pituitary adenoma | Need_an_author | - | - | 102200 |
| 10066 | Familial medullary thyroid carcinoma | Need_an_author | - | - | 155240 |
| 10113 | Familial thyroglossal duct cyst | Need_an_author | - | - | 188455 |
| 10117 | Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) | DONE | 2006-12 | - | 267000 |
| 10148 | Menetrier disease or hypoproteinemic hypertrophic gastropathy | Need_an_author | - | - | 137280 |
| 10133 | Aplasia cutis congenita with epibulbar dermoids/ Oculoectodermal syndrome | Need_an_author | - | - | 600268 |
| 10096 | Bazex-Dupré-Christol syndrome (BDCS) | DONE | 2012-10 | - | 301845 |
| 10136 | Juvenile hyaline fibromatosis / Murray-Puretic-Drescher syndrome | Need_an_author | - | - | 228600 |
| 10079 | Familial platelet disorder with predisposition to acute myelogenous leukemia | DONE | 2008-07 | 2012-09 | 601399 |
| 10036 | Denys-Drash syndrome (DDS) | DONE | 2015-12 | - | 194080 136680 |
| 10035 | Frasier syndrome (FS) | DONE | 2007-05 | - | 136680 |
| 10162 | Familial paraganglioma and gastric stromal sarcoma syndrome | Need_an_author | - | - | 606864 |
| 10107 | Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots | Need_an_author | - | - | 276300 |
| 10118 | Pheochromocytoma-islet cell tumor syndrome (variant of MEN1/MEN2) | Need_an_author | - | - | 171420 |
| 10110 | Congenital central hypoventilation syndrome / Haddad syndrome | Need_an_author | - | - | 209880 |
| 10108 | Ichthyosis, X-linked / Steroid sulfatase deficiency disease | Need_an_author | - | - | 308100 |
| 10139 | Progressive osseous heteroplasia / Familial ectopic ossification / Osteoma cutis | Need_an_author | - | - | 166350 |
| 10072 | Familial pancreatitis | Need_an_author | - | - | 167800 |
| 10069 | Variegated aneuploidy related to premature centromere division (PCD) | DONE | 2000-11 | - | 257300 614114 |
| 10120 | Glomuvenous malformation (GVM) | DONE | 2007-07 | - | 138000 |
| 10090 | Alagille syndrome (AGS) | DONE | 2005-10 | - | 118450 610205 |
| 10093 | McCune Albright syndrome | DONE | 2008-05 | - | 174800 |
| 10105 | Cartilage-hair hypoplasia (CHH) | DONE | 2007-10 | - | 250250 |
| 10002 | Bloom syndrome | DONE | 1998-02 | 2000-09::2005-02 | 210900 |
| 10034 | Dyskeratosis congenita (DKC) | DONE | 2001-08 | - | 127550 224230 305000 613987 613988 613989 613990 615190 616353 |
| 10138 | Schöpf-Schulz-Passarge syndrome (SSPS) | DONE | 2012-07 | - | 224750 |
| 10106 | Porokeratosis of Mibelli | DONE | 2008-06 | - | 175800 |
| 10014 | Tuberous sclerosis (TSC) | DONE | 2002-06 | - | 191092 191100 |
| 10025 | Peutz-Jeghers syndrome | DONE | 2002-02 | 2015-11 | 175200 |
| 10074 | Sturge Weber syndrome | DONE | 2004-08 | - | 185300 |
| 10010 | Von Hippel-Lindau | DONE | 1998-04 | 2001-01 | 193300 |
| 10114 | Prader Willi syndrome | DONE | 2008-04 | - | 176270 |
| 10149 | Silver Russell syndrome | DONE | 2008-09 | - | 180860 312780 |
| 10063 | Rubinstein-Taybi syndrome (RTS) | DONE | 2001-06 | - | 180849 |
| 10144 | Klippel Trenaunay syndrome | DONE | 2008-01 | - | 149000 |
| 10038 | Simpson-Golabi-Behmel syndrome | DONE | 2000-09 | 2002-05 | 300209 312870 |
| 10045 | Sotos syndrome (SOS) | DONE | 2004-10 | - | 117550 614753 |
| 10083 | Hereditary tyrosinemia type 1 | Need_an_author | - | - | 276700 |
| 10024 | Common variable immunodeficiency | Need_an_author | - | - | 240500 607594 613493 613494 613495 613496 614699 614700 615767 615577 |
| 10182 | Poikiloderma with Neutropenia | Need_an_author | - | - | 604173 |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Nov 14 15:25:05 CET 2019 |