Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Gastric Cancer |
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Stomach cancer |
OMIM:613659 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... |
OMIM:619281 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Adult Idiopathic Neutropenia |
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Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Immunodeficiency 15B |
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Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Colorectal Cancer |
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Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Hepatic Adenomas, Familial |
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Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Satoyoshi Syndrome |
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Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
Burkitt Lymphoma |
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Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Decreased proport... |
ORPHA:543 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... |
ORPHA:2975 |
Intrinsic Factor Deficiency |
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Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Tetragametic Chimerism |
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Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Syndromic Recessive X-Linked Ichthyosis |
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Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Thrombocytopenia, Paris-Trousseau Type |
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Pyloric stenosis, Clinodactyly, Radial deviation of finger, Thrombocytopenia |
OMIM:188025 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
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Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Familial Adenomatous Polyposis 4 |
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Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
Alpha-1-Antitrypsin Deficiency |
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Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Peutz-Jeghers Syndrome |
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Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Microgastria-Limb Reduction Defect Syndrome |
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Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro... |
ORPHA:2538 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Fraser-Like Syndrome |
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Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe |
OMIM:229230 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot |
OMIM:133705 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:612138 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Rectal prolapse, Clubbing, Multiple gastric polyps, Hamartomatous polyp... |
OMIM:175200 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac... |
OMIM:614262 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Müllerian Aplasia And Hyperandrogenism |
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Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Bra... |
ORPHA:247768 |
Ovarian Fibrothecoma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered finger |
OMIM:617219 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
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Pyloric stenosis |
OMIM:179010 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Hepatoportal Sclerosis |
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Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu... |
ORPHA:64743 |
Fg Syndrome 3 |
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Pyloric stenosis, Broad hallux, Broad thumb, Cryptorchidism |
OMIM:300406 |
Muir-Torre Syndrome |
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Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, C... |
ORPHA:587 |
Ulnar-Mammary Syndrome |
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Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Pyloric stenosis, Syndactyly |
OMIM:226700 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Precocious puberty, Pyloric stenosis, Cryptorchidism, Small hand, Cleft palate, Short foot, High ... |
ORPHA:96184 |
Ulnar-Mammary Syndrome |
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Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Foot acroosteolysis, Pe... |
OMIM:161700 |
Periventricular Nodular Heterotopia |
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Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux |
ORPHA:98892 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a... |
ORPHA:95699 |
Bronchogenic Cyst |
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Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
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Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Abnormal phalange... |
ORPHA:90291 |
Bardet-Biedl Syndrome 1 |
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Decreased testicular size, Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow... |
OMIM:209900 |
Familial Melanoma |
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Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Hypoplasminogenemia |
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Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... |
ORPHA:454840 |
Craniorachischisis |
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Bifid sternum, Anal atresia |
ORPHA:63260 |
Postaxial Acrofacial Dysostosis |
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Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pyloric ste... |
OMIM:263750 |
Chronic Granulomatous Disease |
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Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Splenomegaly, Tracheo... |
ORPHA:379 |
Cornelia De Lange Syndrome 1 |
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Proximal placement of thumb, High, narrow palate, High palate, Gastroesophageal reflux, Clinodact... |
OMIM:122470 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Accessory spleen, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thu... |
OMIM:618419 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Apert Syndrome |
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Syndactyly, Finger syndactyly, Pyloric stenosis, Esophageal atresia, Cryptorchidism, Delayed epip... |
OMIM:101200 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Osteogenesis Imperfecta, Type X |
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Multiple rib fractures, Bowing of the long bones, Short femur, Pyloric stenosis, Tibial bowing, T... |
OMIM:613848 |
Esophageal Atresia |
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Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... |
ORPHA:1199 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... |
ORPHA:99413 |
Turner Syndrome |
|
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... |
ORPHA:881 |
Mosaic Monosomy X |
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Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... |
ORPHA:99228 |
Monosomy X |
|
Hypermobility of toe joints, Celiac disease, High, narrow palate, Increased circulating gonadotro... |
ORPHA:99226 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, High, narrow palate, Abnormal finger morphology, Apl... |
ORPHA:3472 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Hypersplenism, Splenomega... |
OMIM:301068 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... |
ORPHA:1359 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Pyloric stenosis,... |
ORPHA:83617 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Papillary... |
ORPHA:93111 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th finger, Hy... |
ORPHA:904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Aganglionic megacolon, Hypospadias, Down-sloping shoulders, High, narrow palate, Rect... |
OMIM:309800 |