Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Lynch Syndrome 8 |
|
Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis color... |
OMIM:613244 |
Lynch Syndrome 4 |
|
Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614337 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Cowden-Like syndrome |
|
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma |
OMIM:612359 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Colorectal Cancer |
|
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... |
OMIM:114500 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Muir-Torre Syndrome |
|
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... |
ORPHA:587 |
Familial Adenomatous Polyposis 3 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... |
OMIM:616415 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Colorectal polyposis, Astrocytoma, Adenocar... |
ORPHA:220460 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... |
ORPHA:157794 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... |
OMIM:617100 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Breast carcinoma, Gastric diverticulum, Colorectal polyposis, Bladder ... |
ORPHA:157798 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis |
OMIM:246470 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... |
ORPHA:523 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... |
ORPHA:480536 |
Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Colon cancer, Glioblastoma multiforme, Adenomatous colonic polyposis, Non-Hodgkin ly... |
OMIM:619101 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Rectal polyposis, Hemato... |
ORPHA:329971 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
Hirschsprung Disease |
|
Diarrhea, Nausea and vomiting, Functional abnormality of the gastrointestinal tract, Aganglionic ... |
ORPHA:388 |
Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Neoplasm of the gastrointestinal tract, Paraganglioma |
OMIM:606864 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Fibroma, Multiple lipomas, Astrocytoma, Medulloblastoma, Odontoma, Adrenocort... |
OMIM:175100 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Desmoid Tumor |
|
Fibroma, Malabsorption, Abdominal pain, Neoplasm of the skin, Intestinal polyposis, Intestinal ob... |
ORPHA:873 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... |
ORPHA:2869 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... |
OMIM:193250 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea... |
ORPHA:44890 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Breast carcinoma, Thyroid carcinoma, Renal cell carcinoma, Multiple trichilemmomata, G... |
ORPHA:306498 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention |
ORPHA:103909 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Ganglioneuroma |
|
Episodic abdominal pain, Colorectal polyposis, Abnormal prostate morphology, Multiple intestinal ... |
ORPHA:251992 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Miscarriage |
OMIM:136580 |
Birt-Hogg-Dube Syndrome |
|
Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Renal neopl... |
OMIM:135150 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Squamous Cell Carcinoma Of The Esophagus |
|
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting |
ORPHA:99977 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Burkitt Lymphoma |
|
Abnormality of the liver, Nausea and vomiting, Abdominal pain, Abnormality of the ovary, Neoplasm... |
ORPHA:543 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... |
ORPHA:103907 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... |
OMIM:150800 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... |
ORPHA:160148 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... |
OMIM:266600 |
Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly, B-cell lymphoma |
ORPHA:52416 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Wolman Disease |
|
Hepatic failure, Anemia, Nausea and vomiting, Steatorrhea, Abdominal distention, Malnutrition, Bo... |
ORPHA:75233 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Anemia, Neoplasm of the central nervous system, Nausea and vomiting, Ileus, Sar... |
ORPHA:83469 |
Gastrointestinal Stromal Tumor |
|
Neurofibromas, Constipation, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor |
OMIM:606764 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Intestinal p... |
ORPHA:2930 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Poor appetite, Nausea and vomiting, Esophageal neoplasm, Abno... |
ORPHA:2198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... |
OMIM:619975 |
Atresia Of Small Intestine |
|
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Intestinal hypoplasia, F... |
ORPHA:1201 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Neoplasm, Constipation, Peritonitis |
ORPHA:168829 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abdominal pain, Inflammation of the large intestine, Constipation, Intestina... |
ORPHA:26790 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Ga... |
ORPHA:97286 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Neoplasm, Peritonitis, Ileus |
ORPHA:168811 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... |
ORPHA:145 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, High palate, Osteoma, Hepatoblastoma, Colon cancer, Intestinal bleeding, Desm... |
ORPHA:261584 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... |
ORPHA:144 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcino... |
ORPHA:99976 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Dependency on parenteral nutrition, Villous atrophy, Abdominal distention, Microvillus ... |
OMIM:619445 |
Cowden Syndrome |
|
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... |
ORPHA:201 |
Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abdo... |
ORPHA:206484 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... |
ORPHA:439167 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Fundic gland polyposis, Melena |
OMIM:619182 |
Congenital Pancreatic Cyst |
|
Vomiting, Abdominal pain, Jaundice, Abdominal distention, Anorexia, Pancreatitis |
ORPHA:313906 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Anemia, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatomegaly, Abnormal small in... |
ORPHA:100025 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Abdominal pain, Abnormality of the ova... |
ORPHA:314473 |
Turcot Syndrome With Polyposis |
|
Diarrhea, Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplas... |
ORPHA:99818 |
Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Abdominal pain, Jaundice, Elevated hepatic transaminase, Cholecystitis,... |
ORPHA:131 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Dysphagia, Barrett e... |
ORPHA:70482 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Constipation, Abdominal distention |
OMIM:103200 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Heman... |
OMIM:616858 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Vomiting, Diarrhea, Abdominal distention |
ORPHA:35122 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Gastroesophageal Reflux |
|
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
Peutz-Jeghers Syndrome |
|
Breast carcinoma, Bloody diarrhea, Ovarian cyst, Intussusception, Gastrointestinal carcinoma, Abd... |
OMIM:175200 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Gonadal calcification, Abdominal pain, Abnormality of the o... |
ORPHA:314478 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Primary Effusion Lymphoma |
|
Abdominal pain, Abdominal distention, B-cell lymphoma |
ORPHA:48686 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... |
OMIM:620045 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Hepatocellular carcinoma, Neoplasm of the thyroid gland, Neoplasm of th... |
ORPHA:440437 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal distention, Cholestasis, Hepa... |
OMIM:618528 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
Ppoma |
|
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... |
ORPHA:97278 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Muir-Torre Syndrome |
|
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... |
OMIM:158320 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Grfoma |
|
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... |
ORPHA:97261 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Abdominal d... |
ORPHA:369 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Interface hepatitis, Hematochezia, Intestinal ma... |
OMIM:243150 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... |
ORPHA:2929 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, ... |
OMIM:613662 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... |
ORPHA:79301 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Diarrhea, Elevated circula... |
OMIM:605911 |
Waardenburg-Shah Syndrome |
|
Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Constipation, Intestinal ob... |
ORPHA:897 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Feeding difficulties, High palate, Hepatomegaly |
OMIM:614882 |
Somatostatinoma |
|
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... |
ORPHA:97283 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Breast carcinoma, Macroorchidism, Vomiting, Abnormality of female external genitalia, Jaundice, M... |
ORPHA:90790 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... |
OMIM:300048 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiti... |
ORPHA:1018 |
Neuroendocrine Neoplasm Of Appendix |
|
Ileal adenocarcinoma, Episodic abdominal pain, Midgut malrotation, Mechanical ileus, Adenocarcino... |
ORPHA:100079 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:608971 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... |
ORPHA:913 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocyt... |
OMIM:278000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Glossitis, Anorexi... |
OMIM:175500 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Hypospadias, Intestinal polyp, Cryptorchidism, Lactose intolerance, Protuberant abdomen |
ORPHA:457485 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Abdominal distention |
OMIM:174050 |
Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... |
ORPHA:95427 |
Colonic Atresia |
|
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia, Abnormality of mesentery ... |
ORPHA:1198 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Esophageal var... |
ORPHA:75234 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Neoplasm of the liver, Vaginal... |
ORPHA:2126 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Neoplasm, Constipation, Peritonitis |
ORPHA:168816 |
Pfapa Syndrome |
|
Nausea and vomiting, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Abd... |
ORPHA:1876 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Coproporphyria, Hereditary |
|
Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Constipation, Hep... |
OMIM:121300 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal intestine morphology, Intestinal obst... |
OMIM:226300 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Cirrhosis, Vomiting, Elevated circulating alanine aminotransferase con... |
ORPHA:90003 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly |
OMIM:613490 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Rectal absce... |
ORPHA:70475 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Breast carcinoma, Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymphoma |
ORPHA:86893 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,... |
OMIM:602347 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Basal cell carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Chronic diarrhea, Sp... |
OMIM:619164 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Thrombocytopenia, Hepatomegaly, ... |
OMIM:133180 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Cirrhosis, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appeti... |
ORPHA:298 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Intestinal obstruction, Gastrointestinal... |
ORPHA:343 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol... |
ORPHA:276399 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastroesophageal reflux, Intestinal perforation, Vomiting, Primary testicular failure, Diarrhea, ... |
ORPHA:85450 |
Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Adenocarcinoma of the small intestine, Astrocytoma, Adenocarcinoma of ... |
OMIM:276300 |
Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Abdominal distention, Micronodular c... |
OMIM:215600 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Papilloma, Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, An... |
ORPHA:424019 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy... |
ORPHA:92050 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... |
OMIM:277320 |
Thyroid Hemiagenesis |
|
Constipation, Jaundice, Macroglossia, Abdominal distention |
ORPHA:95719 |
Glucagonoma |
|
Intermittent jaundice, Diarrhea, Parathyroid adenoma, Neoplasm of the pancreas, Intestinal obstru... |
ORPHA:97280 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Episodic abdominal pain, Neoplasm of the nervous system, Extrahepatic chol... |
ORPHA:100086 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Jaundice, Elevated circulating aspartate aminotransferase concen... |
OMIM:614876 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis... |
OMIM:214900 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Melanoma, High, narrow palate, Endometrial carcinoma, Breast carcinoma |
ORPHA:457212 |
Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Diarrhea, Liver abscess, Abdominal pain, Elevated hepatic transaminase, Protract... |
ORPHA:67 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low posterior hairline, Small placenta, Delayed eruption of teeth |
ORPHA:73272 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splen... |
OMIM:614480 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Abdominal distention |
ORPHA:103910 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Peripheral Primitive Neuroectodermal Tumor |
|
Episodic abdominal pain, Precocious puberty, Nausea and vomiting, Neoplasm of the pancreas, Spina... |
ORPHA:370348 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t... |
ORPHA:234 |
Barrett Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
Cowden Syndrome 1 |
|
Breast carcinoma, High palate, Colonic diverticula, Fibroadenoma of the breast, Hydrocele testis,... |
OMIM:158350 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly |
ORPHA:79238 |
Benign Schwannoma |
|
Abnormality of the liver, Abnormal parotid gland morphology, Schwannoma, Intestinal polyposis, Ab... |
ORPHA:252164 |
Mismatch Repair Cancer Syndrome 3 |
|
Lymphoma, Astrocytoma, Neoplasm of the rectum, Colon cancer, Lisch nodules, Glioblastoma multifor... |
OMIM:619097 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Abdominal pain, Splenomegaly |
OMIM:118830 |
Secondary Intestinal Lymphangiectasia |
|
Lymphoma, Cirrhosis, Vomiting, Increased stool alpha1-antitrypsin concentration, Intussusception,... |
ORPHA:90363 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Episodic abdominal pain, Neoplasm of the nervous system, Chronic noninfect... |
ORPHA:100085 |
Cowden Syndrome 6 |
|
Breast carcinoma, High palate, Colonic diverticula, Fibroadenoma of the breast, Hydrocele testis,... |
OMIM:615109 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep... |
OMIM:601847 |
Athyreosis |
|
Constipation, Feeding difficulties, Macroglossia, Abdominal distention |
ORPHA:95713 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Vomiting, Diarrhea, Abdominal distention, Thrombocytopenia, Cholestasis, Hepatomegaly, De... |
OMIM:608104 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Lymphoma, Narrow palate, Neoplasm of the adrenal cortex, Thyroid carcinoma, Abnormal large intest... |
ORPHA:109 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction, Clitoral hypertrophy |
OMIM:150700 |
Lambert Syndrome |
|
Branchial anomaly |
ORPHA:1296 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Nausea and vomiting, Abdominal pain, Jaundice, Acholic stools, Bilia... |
ORPHA:1414 |
Mccune-Albright Syndrome |
|
Precocious puberty, Pituitary adenoma, Intestinal polyposis |
OMIM:174800 |
Oligodontia-Colorectal Cancer Syndrome |
|
Breast carcinoma, Colon cancer, Adenomatous colonic polyposis, Fundic gland polyposis |
OMIM:608615 |
Congenital Hypothyroidism |
|
Hypogonadism, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Tracheoesophag... |
ORPHA:442 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty, Abdominal pain, Gonadal neoplasm, Neoplasm of head ... |
ORPHA:180229 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun... |
ORPHA:64743 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Nasogastric tube feeding in infancy, Diarrhea, Feeding difficulties in infancy, E... |
ORPHA:273 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Abdominal dist... |
ORPHA:71 |
Systemic Primary Carnitine Deficiency |
|
Vomiting, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios |
ORPHA:397590 |
Familial Melanoma |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Neoplasm of the breast |
ORPHA:618 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... |
ORPHA:158057 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Intermittent diarrhea, Poo... |
ORPHA:1333 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
Cowden Syndrome 5 |
|
Breast carcinoma, High palate, Colonic diverticula, Hydrocele testis, Meningioma, Transitional ce... |
OMIM:615108 |
Trichothiodystrophy 1, Photosensitive |
|
Hypogonadism, Malabsorption, Squamous cell carcinoma, Basal cell carcinoma, Intestinal obstructio... |
OMIM:601675 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Aplasia/Hypoplasia of the colon... |
ORPHA:3440 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Neoplasm, Pancreatitis |
ORPHA:1160 |
Hodgkin Lymphoma |
|
Lymphoma, Anorexia, Lymphadenopathy, Neoplasm, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Niemann-Pick Disease, Type A |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Sea-blue histiocytosis, Pr... |
OMIM:257200 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Abnormal intestine morphology, Villous atrophy, Protracted diarrhea |
OMIM:251850 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Abdominal pain, Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsill... |
OMIM:618852 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Abdominal distention, Episodic vomiti... |
ORPHA:100924 |
Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Abdominal pain, Microcolon, Pancreatitis... |
OMIM:155310 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Protuberant abdomen |
ORPHA:221054 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hypoperistalsis, Abnormality of the gastrointestinal tract, Nausea and vomiting, Microcolon, Abdo... |
ORPHA:2241 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... |
OMIM:607765 |
Mast Cell Sarcoma |
|
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Porphyria, Acute Intermittent |
|
Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Nausea, Constipation |
OMIM:176000 |
Juvenile Polyposis Of Infancy |
|
Diarrhea, High, narrow palate, Intussusception, Freckled genitalia, Abdominal pain, Hematochezia,... |
ORPHA:79076 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Diastasis recti, Umbilical hernia, Large placenta |
ORPHA:254534 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Hepatomegaly |
OMIM:269840 |
Subependymoma |
|
Vomiting, Neoplasm of the lung, Neoplasm of the liver, Spinal cord tumor, Ependymoma, Supratentor... |
ORPHA:251639 |
Ependymoma |
|
Vomiting, Neoplasm of the lung, Neoplasm of the liver, Spinal cord tumor, Ependymoma, Supratentor... |
ORPHA:251636 |
Combined Saposin Deficiency |
|
Feeding difficulties, Splenomegaly, Hepatomegaly |
OMIM:611721 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinoma, Renal cortical adenoma, Neopl... |
ORPHA:97290 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho... |
OMIM:235555 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Microvesicular hepatic ste... |
OMIM:613070 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pain, Mult... |
OMIM:174900 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Wrist flexion contracture, Decr... |
OMIM:208150 |
Castleman Disease |
|
Anemia, Abnormality of the gastrointestinal tract, Nausea and vomiting, Abdominal pain, Jaundice,... |
ORPHA:160 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma |
OMIM:615593 |
Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction |
ORPHA:449400 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Permanent Congenital Hypothyroidism |
|
Jaundice, Macroglossia, Abdominal distention, Constipation, Feeding difficulties |
ORPHA:226292 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Extramedullary hematopoiesis, Hepatomegaly, Chronic diarrhea... |
OMIM:615285 |
Currarino Syndrome |
|
Anal fistula, Perianal abscess, Bicornuate uterus, Chronic constipation, Anal atresia, Abdominal ... |
OMIM:176450 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Abdominal ... |
ORPHA:90039 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarrhea, Rectovaginal fistula |
OMIM:270420 |
Aicardi Syndrome |
|
Gastroesophageal reflux, Multiple lipomas, Precocious puberty, Malabsorption, Feeding difficultie... |
ORPHA:50 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Galactosemia Iii |
|
Jaundice, Vomiting, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Elevated c... |
OMIM:619868 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Diarrhea... |
OMIM:613812 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Stomach cancer, Ambiguous genitalia, Myelodysplasia, Vaginal neoplasm, Acute lymp... |
ORPHA:1052 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, High palate, Thyroid lymphangiectasia, Ascites, Pulmonary lymphangiectasia, Abdo... |
OMIM:235255 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Hepatomegaly |
ORPHA:2398 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Hepatocellular Carcinoma |
|
Diarrhea, Elevated hepatic transaminase, Neoplasm, Hepatomegaly, Thrombocytopenia, Abnormal rectu... |
ORPHA:88673 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, L... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic chol... |
OMIM:211600 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Steatorrhea, Malnutrition, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of i... |
OMIM:612714 |
Hereditary Hemorrhagic Telangiectasia |
|
Hepatic failure, Cirrhosis, Visceral angiomatosis, Intestinal polyposis, Cholecystitis, Cavernous... |
ORPHA:774 |
Harderoporphyria |
|
Vomiting, Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prol... |
OMIM:618892 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Inflammation of the large intestine, Hemophagocytosis, Hepatomegaly, Col... |
OMIM:300635 |
Familial Mediterranean Fever |
|
Diarrhea, Orchitis, Nausea and vomiting, Malabsorption, Abdominal pain, Intestinal obstruction, O... |
ORPHA:342 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obl... |
OMIM:619849 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Nausea and vomiting, Malabsorption, Abdominal pain, Intestinal obstructi... |
ORPHA:183 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Constipation, Prolonged neon... |
ORPHA:226313 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Episodic abdominal pain, Peptic ulcer, Nephroblastoma, Pancreatic adenocarcinoma, Parath... |
ORPHA:99880 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Meckel Syndrome, Type 8 |
|
Cleft palate, Enlarged kidney, Abdominal distention |
OMIM:613885 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Carcinoma, Unilateral vestibular schwannoma |
OMIM:603641 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Feedin... |
OMIM:613489 |
Primary Biliary Cholangitis |
|
Hepatic failure, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Hepatocellu... |
ORPHA:186 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, High, narrow palate, Abdominal distention, Cryptorchidism |
ORPHA:3010 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, High palate, Pulmonary lymphangiectasia, Abdominal distention, Hepatosplenomegal... |
ORPHA:1655 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Dysphagia |
ORPHA:77260 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Elevated hepatic transaminase, Hepatosplenomegaly, Bone-marrow foam cells, Decreased li... |
ORPHA:275761 |
Parathyroid Carcinoma |
|
Fibroma, Episodic abdominal pain, Peptic ulcer, Nephroblastoma, Pancreatic adenocarcinoma, Thyroi... |
ORPHA:143 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated cir... |
ORPHA:53035 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... |
OMIM:269600 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Nau... |
OMIM:618549 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic failure, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... |
ORPHA:71505 |
Sepsis In Premature Infants |
|
Anemia, Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, ... |
ORPHA:90051 |
Mpi-Cdg |
|
Hepatic fibrosis, Vomiting, Diarrhea, Gastrointestinal hemorrhage, Hepatomegaly, Decreased liver ... |
ORPHA:79319 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Neoplasm of head and neck, Colon cancer, Follicular thyroid carci... |
ORPHA:319487 |
Immunodeficiency 61 |
|
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation |
OMIM:300310 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Intestinal obstruction, Cryptorchidism |
ORPHA:2323 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Porphyria Variegata |
|
Abnormality of the liver, Abdominal pain, Hepatocellular carcinoma, Elevated hepatic transaminase... |
ORPHA:79473 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thrombocytopenia, Splenom... |
OMIM:613101 |
Shigellosis |
|
Intestinal perforation, Bloody diarrhea, Vomiting, Hepatic failure, Paralytic ileus, Abdominal pa... |
ORPHA:810 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic failure, Vomiting, Hepatic fibrosis, Diarrhea, Villous atrophy, Cirrhos... |
OMIM:602579 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... |
ORPHA:436252 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Elevated circulating alanine aminotransferase concentration, Diarrhea,... |
OMIM:256810 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Feeding difficulties, Splenomegaly |
OMIM:615010 |
Immunodeficiency 69 |
|
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis, Hepatomegaly |
ORPHA:1759 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615158 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Pyloric stenosis, Abdominal distention |
OMIM:256300 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Abdominal pain, Elevated hepatic transaminase, Hepatomegaly, Ascites |
ORPHA:890 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Classic Hodgkin Lymphoma |
|
Lymphoma, Poor appetite, Anorexia, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepato... |
ORPHA:391 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Knee flexion contracture, Camptodactyly, Pulmonary artery stenosis, Ankle flexion contracture, Br... |
ORPHA:435938 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Abdominal pain, Abdominal distention, Anorexia, Nausea, Leukocytosis, Recurrent infection of the ... |
ORPHA:51890 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Abdominal pain, Cholangiocarcinoma, Lymphadenopathy, Hepatome... |
ORPHA:99978 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Hepatitis, Villous atrophy, Chronic diarrhea |
OMIM:304790 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Nasogastric tube feeding in infancy, High palate, Poor suck, Abnormality of the liver, Macrogloss... |
ORPHA:254864 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Stomach cancer, Breast carcinoma, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... |
OMIM:301045 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Abdominal distention, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Diarrhea, Lymphopenia, Autoimmune thrombocytopenia, Autoimmu... |
OMIM:616100 |
Neuroendocrine Tumor Of The Rectum |
|
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... |
ORPHA:100082 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Diarrhea, Hepatomegaly |
OMIM:261750 |
Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormality of the pulmonary artery, Webbed neck, Branchial anomaly |
ORPHA:1131 |
Mirizzi Syndrome |
|
Vomiting, Abdominal colic, Cholesterol gallstones, Abdominal pain, Jaundice, Elevated hepatic tra... |
ORPHA:521219 |
Acute Intermittent Porphyria |
|
Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Hepatocellular carcinoma, ... |
ORPHA:79276 |
Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Diarrhea, Lymphadenopathy, Follicular hyperplasia, Neoplasm, Hepatomegaly, Splenomegaly |
OMIM:240500 |
Aa Amyloidosis |
|
Vomiting, Malabsorption, Enlarged kidney, Abdominal pain, Malnutrition, Nausea, Hepatomegaly, Chr... |
ORPHA:85445 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Polyhydramnios, Fetal akinesia sequence, Broad neck, Joint contracture ... |
OMIM:256520 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, M... |
ORPHA:254528 |
Medulloblastoma |
|
Medulloblastoma, Cerebellar medulloblastoma, Nausea and vomiting, Spinal cord tumor, Elevated hep... |
ORPHA:616 |
Neuroendocrine Tumor Of The Colon |
|
Bloody diarrhea, Abdominal pain, Atypical pulmonary carcinoid tumor, Hypoactive bowel sounds, Ele... |
ORPHA:100080 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Protuberant abdomen |
OMIM:618272 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Cirrhosis, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Hepatomegaly, ... |
OMIM:614602 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
Adenocarcinoma Of The Anal Canal |
|
Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal ad... |
ORPHA:424016 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Facial palsy |
ORPHA:1114 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Indolent Systemic Mastocytosis |
|
Abdominal cramps, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hemato... |
ORPHA:98848 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Constipation, Ileus |
ORPHA:52503 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Feeding difficulties i... |
OMIM:616050 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Celiac Disease, Susceptibility To, 1 |
|
Lymphoma, Recurrent aphthous stomatitis, Vomiting, Diarrhea, Abdominal pain, Elevated hepatic tra... |
OMIM:212750 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Abdominal distention, Hepatomegaly |
OMIM:619423 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog... |
ORPHA:846 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Hepatomegaly, Portal vein thrombosis |
ORPHA:33402 |
Hereditary Fructose Intolerance |
|
Vomiting, Diarrhea, Abdominal pain, Jaundice, Abdominal distention, Chronic hepatic failure, Naus... |
ORPHA:469 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vomiting, Diarrhea, Abdominal pain, Constipation, Intestinal obstruction, Orchitis, Peritonitis |
ORPHA:32960 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Abdominal pain, Microa... |
ORPHA:93552 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelodysplasia, Feeding difficulties in infancy, Elevated hepatic transaminase, Generalized lymph... |
ORPHA:3260 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Elevated hepatic transaminase, Hepatic steatosis, Constipation, Hepatomegaly, D... |
OMIM:613327 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Feeding difficulties in infancy, Hepatomegaly |
OMIM:614870 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune throm... |
OMIM:300853 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Thyroid Hypoplasia |
|
Constipation, Jaundice, Macroglossia, Abdominal distention |
ORPHA:95720 |
Restrictive Dermopathy |
|
Patent ductus arteriosus, Polyhydramnios, Camptodactyly of finger, Ascending tubular aorta aneury... |
ORPHA:1662 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Abdominal pain, Tufted angioma, Microangiopathic hemolytic anemia, Capillary ... |
ORPHA:2330 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Hepatomegaly, ... |
OMIM:610333 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Scleros... |
OMIM:619662 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Vomiting, Diarrhea, Abdominal pain, Jau... |
ORPHA:677 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Juvenile gastrointestinal polypos... |
OMIM:175050 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... |
OMIM:261000 |
Wilson Disease |
|
Hepatic failure, Vomiting, Elevated circulating alanine aminotransferase concentration, Cirrhosis... |
OMIM:277900 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Episodic abdominal pain, Bloody diarrhea, Intermittent dia... |
ORPHA:100075 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... |
OMIM:214950 |
Sialuria |
|
High palate, Macroglossia, Hepatomegaly, Splenomegaly, Protuberant abdomen |
OMIM:269921 |
Mungan Syndrome |
|
Barrett esophagus, Hypoperistalsis, Megaduodenum, Abdominal pain, Intestinal pseudo-obstruction, ... |
OMIM:611376 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Inflammat... |
OMIM:232220 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Branchiootic Syndrome 1 |
|