Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614350 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... |
OMIM:610069 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Breast carcinoma, Papillary thyroid carcinoma, Uterine leiomyoma |
OMIM:612359 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps |
OMIM:175505 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Colorectal Cancer |
|
Transitional cell carcinoma of the bladder, Neoplasm of the stomach, Hereditary nonpolyposis colo... |
OMIM:114500 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... |
ORPHA:447877 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Papilloma, Stomach cancer, Thyroid adenoma |
OMIM:617100 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Muir-Torre Syndrome |
|
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... |
ORPHA:587 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
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 8 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:613244 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... |
ORPHA:220460 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer |
OMIM:135290 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... |
ORPHA:157794 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... |
ORPHA:157798 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... |
ORPHA:247798 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... |
ORPHA:523 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... |
ORPHA:480536 |
Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon ... |
OMIM:619101 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... |
ORPHA:247806 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal polyposis, Sma... |
ORPHA:329971 |
Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
Hirschsprung Disease |
|
Nausea and vomiting, Aganglionic megacolon, Functional abnormality of the gastrointestinal tract,... |
ORPHA:388 |
Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... |
ORPHA:2869 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Desmoid Tumor |
|
Neoplasm of the skin, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hem... |
ORPHA:873 |
Cowden syndrome 3 |
|
Renal cell carcinoma, Neoplasm of the thyroid gland, Uterine leiomyoma |
OMIM:615106 |
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 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... |
OMIM:193250 |
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 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... |
ORPHA:44890 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid carcinoma, Endometrial carcinoma, Hemangioma, Renal cell carcinoma, Neoplasm, Thyroid ade... |
ORPHA:306498 |
Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft palate, Stomach cancer, Neoplasm |
OMIM:137215 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Ganglioneuroma |
|
Colorectal polyposis, Neoplasm of the adrenal gland, Functional intestinal obstruction, Episodic ... |
ORPHA:251992 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... |
ORPHA:733 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal cell carcinoma, Large intestinal polyposis, Cutaneous leiomyosarcoma, Col... |
OMIM:135150 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Lymphoprolif... |
ORPHA:263665 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Polycystic liver disease, Ab... |
ORPHA:2924 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... |
ORPHA:103907 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Cutane... |
OMIM:150800 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Squamous Cell Carcinoma Of The Esophagus |
|
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma |
ORPHA:99977 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Burkitt Lymphoma |
|
Nausea and vomiting, Abnormality of the ovary, Abnormality of the liver, Intestinal obstruction, ... |
ORPHA:543 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Mantle Cell Lymphoma |
|
Anorexia, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Cap Polyposis |
|
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Diarrhea, Abdominal... |
ORPHA:160148 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Neoplasm of the pancre... |
ORPHA:2591 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Nausea and vomiting, Neoplasm of the central nervous system, Mediastinal lymphadeno... |
ORPHA:83469 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Wolman Disease |
|
Hepatomegaly, Nausea and vomiting, Esophageal varix, Ascites, Abdominal distention, Anemia, Bone-... |
ORPHA:75233 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... |
OMIM:266600 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Neurofibromas |
OMIM:606764 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Neoplasm, Ma... |
ORPHA:2930 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... |
ORPHA:2198 |
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 |
Atresia Of Small Intestine |
|
Vomiting, Feeding difficulties, Abdominal distention, Jejunal atresia, Intestinal malrotation, In... |
ORPHA:1201 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Gastrointestinal... |
ORPHA:97286 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Peritonitis, Abdominal distention, Neoplasm, Abdominal pain, Constipation |
ORPHA:168829 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... |
ORPHA:524 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Abdominal distention, Neoplasm, Ileus, Abdominal pain |
ORPHA:168811 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Abnormal liver sonography, Neoplasm of the liver, Cirrhos... |
ORPHA:90003 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Osteoma, High palate, Adenomatous colonic polyposis, Desmoid tumors, Hepatoblastoma, Duodenal pol... |
ORPHA:261584 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... |
ORPHA:145 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Diarrhea, Autoimmune ... |
OMIM:618495 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Abdominal distention, Microvillus ... |
OMIM:619445 |
Cowden Syndrome |
|
Neoplasm of the skin, Meningioma, Endometrial carcinoma, Papilloma, Conjunctival hamartoma, Enlar... |
ORPHA:201 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer |
OMIM:619096 |
Lynch Syndrome |
|
Ovarian neoplasm, Neuroblastoma, Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carc... |
ORPHA:144 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Abdomi... |
OMIM:613070 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Congenital Pancreatic Cyst |
|
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice |
ORPHA:313906 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Cirrhosis, Familial |
|
Abdominal distention, Micronodular cirrhosis, Esophageal varix, Jaundice |
OMIM:215600 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Barrett esophagus, Ga... |
ORPHA:99976 |
Ovarian Fibroma |
|
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal distention, ... |
ORPHA:314473 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Cirrhos... |
ORPHA:131 |
Placental Insufficiency |
|
Eclampsia, Preeclampsia, Maternal hypertension, Spontaneous abortion, Small placenta, Abnormal pl... |
ORPHA:439167 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
Adiposis Dolorosa |
|
Abdominal distention, Painful subcutaneous lipomas, Constipation |
OMIM:103200 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Abdominal distention, Diff... |
ORPHA:314478 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Gastrointestinal dysmotility, Abdominal distention, Malabsorption, Malnutrition, Abdominal pain, ... |
OMIM:613662 |
Cowden Syndrome 7 |
|
Trichilemmoma, Hemangioma, Papillary thyroid carcinoma, Breast carcinoma, Intestinal polyposis, P... |
OMIM:616858 |
Primary Effusion Lymphoma |
|
Abdominal distention, B-cell lymphoma, Abdominal pain |
ORPHA:48686 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Barrett esophagus, Gastroesophagea... |
ORPHA:70482 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension |
OMIM:617068 |
Ppoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Intrahepatic ... |
ORPHA:97278 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Feeding difficulties, Abdominal distention, Cholestasis, Hepatic failure, Elevated ... |
OMIM:618528 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Biliary tract abnormality, Gastrointestinal carcinoma, Neoplasm of the pancreas,... |
OMIM:175200 |
Grfoma |
|
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... |
ORPHA:97261 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcin... |
ORPHA:440437 |
Juvenile Polyposis Syndrome |
|
Visceral angiomatosis, Hemangioblastoma, Neoplasm of the small intestine, Intussusception, Gastro... |
ORPHA:2929 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Increased hepatic glyc... |
ORPHA:369 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting |
OMIM:605911 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... |
ORPHA:79301 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Neoplasm, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Feeding difficulties in infancy, Increased mean platelet volume, Vomiting, Inte... |
OMIM:300048 |
Somatostatinoma |
|
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic cholestas... |
ORPHA:97283 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Feeding difficulties, Hepatomegaly, High palate |
OMIM:614882 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Vomiting, Endometrial carcinoma, Breast carcinoma, Female external genitalia in i... |
ORPHA:90790 |
Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction, Abdominal pain, Con... |
ORPHA:897 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Midgut malrotation, Appendiceal mucinous neoplasm, Nausea and vomiting, Constip... |
ORPHA:100079 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Vomiting, Abdominal distention, Anemia, Decreased liver function, Cholesta... |
OMIM:608104 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, E... |
OMIM:602347 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Jaun... |
ORPHA:913 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... |
OMIM:278000 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Tracheobronchial leiomyomatosis, Esophageal neoplasm, Morphological abnormality of the... |
ORPHA:1018 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... |
ORPHA:95427 |
Familial Multinodular Goiter |
|
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, Diarrhea, H... |
OMIM:175500 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Lactose intolerance, Hypospadias, Hemangioma, Protuberant abdomen, Cryptorchidism |
ORPHA:457485 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, B-cell lymphoma, Splenomegaly |
OMIM:619437 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Nausea and vomiting, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... |
ORPHA:75234 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Polycystic liver disease, Ascites |
OMIM:174050 |
Pfapa Syndrome |
|
Hepatomegaly, Nausea and vomiting, Lymphadenopathy, Malabsorption, Splenomegaly, Abdominal pain |
ORPHA:42642 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Diarrhea, Increased hepatic glycogen content |
OMIM:261750 |
Immunodeficiency 48 |
|
Hepatomegaly, Diarrhea, Splenomegaly |
OMIM:269840 |
Glucose/Galactose Malabsorption |
|
Chronic diarrhea, Abdominal distention, Malabsorption, Hyperactive bowel sounds |
OMIM:606824 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Abdominal distention, Neoplasm, Abdominal pain, Constipation |
ORPHA:168816 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Abdominal diste... |
ORPHA:1198 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... |
ORPHA:2126 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Abnormal intestine morphology, Vomiting, Malabsorption, Intestinal obstruction, Dia... |
OMIM:226300 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma |
ORPHA:86893 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Vomiting, Nausea, Gastrointestinal dysmotility, Hypergonadotropic hypogonadism, Abdomi... |
ORPHA:298 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Diarrhea, Abdominal pain,... |
OMIM:121300 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Dysphagia, Feeding difficulties, Protuberant abdomen, Anemia, Splenomegaly, Thrombo... |
OMIM:230900 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... |
ORPHA:70475 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... |
OMIM:619164 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Malabsorption, Colon cancer |
OMIM:300310 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Diarrhea, T lymphocytopenia |
OMIM:608971 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Anorexia, Ascites, Nausea, Biliary tract obstruction, Biliary tract neop... |
ORPHA:100086 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthou... |
ORPHA:343 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Glossoptosis, Elevated circulating aspartate amino... |
OMIM:614876 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Vomiting, Nausea, Intestinal perforation, Dyspepsia, Decreased liver ... |
ORPHA:85450 |
Glucagonoma |
|
Stomatitis, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic cholestasis, Parathyroid adeno... |
ORPHA:97280 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Abdominal distention, Malabsorption, Anal atresia, Abnormal small inte... |
ORPHA:92050 |
Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Constipation, Jaundice |
ORPHA:95719 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... |
OMIM:214900 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Abdominal distention, Gastroparesis, Malnutrition, Abdominal ... |
OMIM:277320 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, High, narrow palate, Breast carcinoma, Melanoma |
ORPHA:457212 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Neuroendocrine neoplasm, Anorexia, Neoplasm of the lung, Ascites, Nausea, Biliary t... |
ORPHA:100085 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the lung, Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma... |
ORPHA:424019 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, Intestinal obs... |
ORPHA:67 |
Benign Schwannoma |
|
Vestibular Schwannoma, Abnormal parotid gland morphology, Peripheral Schwannoma, Abnormality of t... |
ORPHA:252164 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
Chylomicron Retention Disease |
|
Vomiting, Acanthocytosis, Abdominal distention, Increased hepatocellular lipid droplets, Hepatic ... |
ORPHA:71 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low posterior hairline, Delayed eruption of teeth, Small placenta |
ORPHA:73272 |
Tylosis With Esophageal Cancer |
|
Neoplasm, Esophageal carcinoma |
OMIM:148500 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Abdominal pain, Splenomegaly |
OMIM:118830 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Barrett Esophagus |
|
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma |
OMIM:614266 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Nausea and vomiting, Feeding difficulties, Splenomegaly, Jaundice |
ORPHA:79238 |
Mismatch Repair Cancer Syndrome 3 |
|
Astrocytoma, Neoplasm of the rectum, Glioblastoma multiforme, Lisch nodules, Lymphoma, T-cell lym... |
OMIM:619097 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Secondary Intestinal Lymphangiectasia |
|
Celiac disease, Increased stool alpha1-antitrypsin concentration, Vomiting, Volvulus, Malabsorpti... |
ORPHA:90363 |
Athyreosis |
|
Macroglossia, Feeding difficulties, Abdominal distention, Constipation |
ORPHA:95713 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Diarrh... |
OMIM:601847 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cowden Syndrome 1 |
|
High palate, Meningioma, Transitional cell carcinoma of the bladder, Carcinoma, Ovarian cyst, Fur... |
OMIM:158350 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Nausea and vomiting, Acholic stools, Biliary tract abnormality, Multiple lipomas, A... |
ORPHA:1414 |
Lambert Syndrome |
|
Branchial anomaly |
ORPHA:1296 |
Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy, Esophageal obstruction |
OMIM:150700 |
Oligodontia-Colorectal Cancer Syndrome |
|
Breast carcinoma, Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
Cowden Syndrome 6 |
|
High palate, Meningioma, Transitional cell carcinoma of the bladder, Ovarian cyst, Furrowed tongu... |
OMIM:615109 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Intestinal polyposis |
OMIM:174800 |
Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Hypogonadism, Intestinal obs... |
ORPHA:442 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomi... |
ORPHA:2494 |
Trichothiodystrophy 1, Photosensitive |
|
Basal cell carcinoma, Malabsorption, Chronic diarrhea, Intestinal obstruction, Hypogonadism, Squa... |
OMIM:601675 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Thyroid carcinoma, Meningioma, Abnormal large intestine morphology, Neoplasm of the breast, Neopl... |
ORPHA:109 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Small placenta |
ORPHA:397590 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloprolifera... |
ORPHA:100924 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Nausea and vomiting, Anorexia, Brain neoplasm, Abdominal distention, Neoplasm o... |
ORPHA:370348 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic failure, E... |
OMIM:613812 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Feeding difficulties i... |
ORPHA:273 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... |
ORPHA:158057 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the breast, Neoplasm of the stomach, Melanoma |
ORPHA:618 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Vomiting |
ORPHA:158 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis |
ORPHA:66661 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis, Ascites, Neoplasm |
ORPHA:1160 |
Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly |
ORPHA:98293 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic f... |
OMIM:602579 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Abdominal ... |
OMIM:618852 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Gastric varix, Splenomeg... |
ORPHA:64743 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplas... |
OMIM:619463 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Polyembryoma |
|
Macroorchidism, Gonadal neoplasm, Abdominal distention, Neuroectodermal neoplasm, Isosexual preco... |
ORPHA:180229 |
Puerto Rican Infant Hypotonia Syndrome |
|
High palate, Abdominal distention, Narrow palate, Cryptorchidism, Constipation, Chronic constipation |
OMIM:600096 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Aganglionic megacolon, Abnormality of the uterus, Intestinal obstruct... |
ORPHA:3440 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Neoplasm of the heart, Hypoper... |
ORPHA:2241 |
Cowden Syndrome 5 |
|
High palate, Meningioma, Transitional cell carcinoma of the bladder, Ovarian cyst, Furrowed tongu... |
OMIM:615108 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties |
OMIM:613861 |
Porphyria, Acute Intermittent |
|
Hepatocellular carcinoma, Vomiting, Nausea, Paralytic ileus, Diarrhea, Abdominal pain, Constipation |
OMIM:176000 |
Acrocephalopolydactyly |
|
Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Celiac dis... |
OMIM:619375 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic... |
OMIM:607765 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Freckled genitalia, Rectal prolapse, Adenomatous colonic polyposis, Hemangio... |
ORPHA:79076 |
Subependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Vomiting, Neoplasm of... |
ORPHA:251639 |
Ependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Vomiting, Neoplasm of... |
ORPHA:251636 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Vomiting, Splenomegaly |
OMIM:230350 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Hepatic failure, Elevated hepatic transaminase, Diarrhea... |
OMIM:235555 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Gastric Volvulus, Intrathoracic |
|
Volvulus, Hiatus hernia |
OMIM:137210 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Renal oncocytoma, Papillary thyroid carcinoma, Renal cortical adenoma, Breast carcinoma, Neoplasm... |
ORPHA:97290 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Hepatomegaly |
ORPHA:2432 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... |
OMIM:174900 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Rectovaginal fistula, Abdominal distention, Intestinal malrotation, Anal atresia, Secretory diarrhea |
OMIM:270420 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly |
OMIM:615593 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Multiple Endocrine Neoplasia Type 4 |
|
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... |
ORPHA:276152 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
Permanent Congenital Hypothyroidism |
|
Macroglossia, Feeding difficulties, Abdominal distention, Constipation, Jaundice |
ORPHA:226292 |
Aicardi Syndrome |
|
Feeding difficulties in infancy, Cleft palate, Malabsorption, Hepatoblastoma, Precocious puberty,... |
ORPHA:50 |
Castleman Disease |
|
Nausea and vomiting, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Abdomi... |
ORPHA:160 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Feeding difficulties in infancy, Constipation, Ascites, Vomiting, Lymphadenopathy, ... |
OMIM:257200 |
Combined Saposin Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly |
OMIM:611721 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Abdominal pain |
ORPHA:449400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Ascites, Abdominal distentio... |
OMIM:235255 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cleft palate, Myelodysplasia, Duodenal atresia, Rhabdomyosarcoma, S... |
ORPHA:1052 |
Currarino Syndrome |
|
Gastrointestinal obstruction, Presacral teratoma, Rectovaginal fistula, Abdominal distention, Ana... |
OMIM:176450 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... |
OMIM:614470 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas |
ORPHA:2398 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Aplastic anemia, Panc... |
OMIM:300635 |
Familial Mediterranean Fever |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Malabsorption, Intestinal obstruc... |
ORPHA:342 |
Caroli Disease |
|
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... |
ORPHA:53035 |
Hereditary Spherocytosis |
|
Hepatomegaly, Abdominal distention, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopo... |
ORPHA:822 |
Hereditary Hemorrhagic Telangiectasia |
|
Cavernous hemangioma, Esophageal varix, Visceral angiomatosis, Cholelithiasis, Cirrhosis, Gastroi... |
ORPHA:774 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Hepatocellular Carcinoma |
|
Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Diarrh... |
ORPHA:88673 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Dysphagia, Malabsorption, Intestinal obstruction, Gastroesophageal reflux, A... |
ORPHA:183 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Abdominal distention, Splenomegaly |
OMIM:602557 |
Caroli Disease, Isolated |
|
Hepatomegaly, Cholangitis, Esophageal varix, Vomiting, Portal hypertension, Liver abscess |
OMIM:600643 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis... |
ORPHA:186 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Splenomegaly |
ORPHA:77260 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Macroglossia, Protuberant abdomen, Abdominal distention, Prolong... |
ORPHA:226313 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Malnutrition, Anemia of inadequate production, E... |
OMIM:612714 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Fetal akinesia sequence, Premature birth, Generalized amyotrophy, Arthrogry... |
OMIM:208150 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... |
OMIM:618549 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Facial palsy |
ORPHA:1114 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... |
OMIM:613489 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Ascites, Abdominal distention, Splenomegal... |
ORPHA:1655 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Fatal liver failure in ... |
ORPHA:275761 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate |
OMIM:613885 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Thrombocytopenia |
ORPHA:1980 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... |
ORPHA:2088 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... |
ORPHA:79319 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... |
OMIM:613101 |
Sepsis In Premature Infants |
|
Hepatomegaly, Leukocytosis, Neutropenia, Vomiting, Functional abnormality of the gastrointestinal... |
ORPHA:90051 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Cryptorchidism, Hypoplasia of penis |
ORPHA:2323 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency |
ORPHA:586 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Decre... |
OMIM:301045 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Cancer-Associated Retinopathy |
|
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... |
ORPHA:71505 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Abdominal pain, Jaun... |
ORPHA:99978 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Diarrhea |
OMIM:618963 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Porphyria Variegata |
|
Hepatocellular carcinoma, Nausea, Abnormality of the liver, Elevated hepatic transaminase, Ileus,... |
ORPHA:79473 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary thyroid carcinoma, Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary r... |
ORPHA:319487 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Dysphagia, Thyroid carcinoma, Constipation, Uterine leiomyoma, Pancreatic ad... |
ORPHA:99880 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:306000 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux |
OMIM:256300 |
Shigellosis |
|
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Anorexia, Vomiting, Abdominal cramps, Nausea, ... |
ORPHA:810 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy |
OMIM:614870 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... |
ORPHA:436252 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel ... |
ORPHA:100082 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Neoplasm, Lymphoma, Splenom... |
ORPHA:391 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Cryptorchidism, Chronic constipation |
ORPHA:3010 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Pseudobulbar paralysis, Hepatocellular carcinoma, Abdominal distention, Diar... |
ORPHA:79276 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Ankle flexion contracture, Knee flexion contracture, Camptodactyly, Pulmonary art... |
ORPHA:435938 |
Aa Amyloidosis |
|
Hepatomegaly, Vomiting, Nausea, Malabsorption, Chronic diarrhea, Cholestasis, Malnutrition, Abdom... |
ORPHA:85445 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Decreased fetal movement, Joint contracture of the hand, P... |
OMIM:256520 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Elevated hepatic transaminase, Abdominal pain, Jaundice |
ORPHA:890 |
Mirizzi Syndrome |
|
Anorexia, Gallbladder perforation, Vomiting, Nausea, Abdominal distention, Cholelithiasis, Pancre... |
ORPHA:521219 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent infection of the gastrointestinal tract, Leukocytosis, Anorexia, Nausea, Abdominal dist... |
ORPHA:51890 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Bloody diarrhea, Anorexia, Bowel urgency, Atypical pulmonary carcinoid tumor, Protr... |
ORPHA:100080 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Hepatitis, Villous atrophy, Ileus |
OMIM:304790 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... |
ORPHA:79501 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Dysphagia, Thyroid carcinoma, Parathyroid carcinoma, Constipation, Uterine l... |
ORPHA:143 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Feeding difficulties, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Medulloblastoma |
|
Nausea and vomiting, Neuroblastoma, Neoplasm of the lung, Adenomatous colonic polyposis, Elevated... |
ORPHA:616 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Feeding difficulties, Hepatomegaly, High palate, Jaundice |
OMIM:614872 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Dysphagia, Feeding difficulties, Hepatic steatosis, Elevated hepa... |
OMIM:613327 |
Letterer-Siwe Disease |
|
Neutropenia, Abdominal distention, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice |
OMIM:246400 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Macroglossia, Polyhydramnios, Wrist flexion contracture, Diastasis recti, Fl... |
ORPHA:254528 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Hepatitis, Cirrhosis, Diarrhea, Colitis |
OMIM:614602 |
Sialuria |
|
Hepatomegaly, Protuberant abdomen, High palate, Splenomegaly |
OMIM:269921 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly, Diarrhea, Follicular hyperplasia |
OMIM:240500 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, High palate, Macroglossia, Nasogastric tube feeding in infancy, Abnormality of the ... |
ORPHA:254864 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Vomiting, Hepatic steatosis, Hepatic failure, Pancytopenia |
OMIM:617872 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Webbed neck, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... |
OMIM:616100 |
Alpha-Thalassemia |
|
Myelodysplasia, Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcy... |
ORPHA:846 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus, Constipation |
ORPHA:52503 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Anemia, Splenomegaly, Reduced natural killer ce... |
OMIM:616050 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Ascites, Lymphadenopathy, Leukopenia, Abdominal distention, Vo... |
ORPHA:93552 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Vomiting, Nausea, Abdominal distention, Diarrhea, Chronic hepatic failure, Abdomina... |
ORPHA:469 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Elevated hepa... |
OMIM:610333 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus |
OMIM:613559 |
Thyroid Hypoplasia |
|
Macroglossia, Abdominal distention, Constipation, Jaundice |
ORPHA:95720 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Abdominal distention, Hypochromic microcytic anemia |
OMIM:619423 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency |
OMIM:615723 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vomiting, Peritonitis, Intestinal obstruction, Orchitis, Diarrhea, Abdominal pain, Constipation |
ORPHA:32960 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Restrictive Dermopathy |
|
Short umbilical cord, Ascending tubular aorta aneurysm, Premature delivery because of cervical in... |
ORPHA:1662 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Portal fibrosis, Abdominal distention, Splenomegaly... |
ORPHA:3260 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Pancreatoblastoma |
|
Vomiting, Pancreatic calcification, Abdominal distention, Abnormality of the lymph nodes, Diarrhe... |
ORPHA:677 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Chronic diarrhea, Intestinal obstruction |
OMIM:600802 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Bannayan-Riley-Ruvalcaba syndrome |
|
High palate, Meningioma, Long penis, Hemangioma, Intussusception, Lipoma, Hamartomatous polyposis... |
OMIM:153480 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal ... |
ORPHA:424016 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Gastrointestinal carcinoma, Hepatic arteriovenous malformati... |
OMIM:175050 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... |
ORPHA:567983 |
Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Stomatitis, Vomiting, Abdominal distention, Lymphoma, Steatorrhea, Elevated hepat... |
OMIM:212750 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Lym... |
OMIM:300853 |
Cold Agglutinin Disease |
|
Hepatomegaly, Nausea and vomiting, Lymphadenopathy, Splenomegaly, Diarrhea, Hemolytic anemia |
ORPHA:56425 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, Lymphoma,... |
OMIM:615122 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Feeding difficulties in infancy, Aganglionic megacolon, Vomiting, Ileus, Constipation |
OMIM:300352 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Sp... |
ORPHA:2584 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Atypical pulmonary c... |
ORPHA:100075 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Vomiting, Lymphadenopathy, Abnormality of the liver, Mye... |
ORPHA:79456 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated ci... |
OMIM:619662 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Arthrogryposis multi... |
ORPHA:79321 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... |
ORPHA:379 |
Necrotizing Enterocolitis |
|
Leukocytosis, Bloody diarrhea, Neutropenia, Ascites, Peritonitis, Vomiting, Abdominal distention,... |
ORPHA:391673 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Nausea and vomiting, Anorexia, Neutropenia, Feeding difficulties, Anemia, Pancreati... |
ORPHA:79312 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... |
ORPHA:139507 |
Kasabach-Merritt Syndrome |
|
Neoplasm of the skin, Neutropenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... |
ORPHA:2330 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Feeding difficulties, Cholestasis, Jaundice |
OMIM:614887 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... |
ORPHA:231401 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Abnormal large intestine physiology, Spleno... |
ORPHA:3386 |