Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613582 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Retinal Venous Beading |
|
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... |
OMIM:180080 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Retinitis Pigmentosa 29 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Lactose Intolerance, Adult Type |
|
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... |
OMIM:223100 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... |
ORPHA:70482 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morpholog... |
ORPHA:2198 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... |
OMIM:266600 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Recurrent otitis media |
OMIM:615617 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Abnormal QRS complex, Reduced ejection fraction, Supraventricula... |
ORPHA:45452 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss, Anorexia, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Weight loss, Gastrostomy... |
ORPHA:141152 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Failure to thrive, Panhypogammaglobulinemia, Diarrhea |
OMIM:269840 |
Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh... |
ORPHA:160148 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Rectal prolapse, Stercoral ulcer, Episodic abd... |
ORPHA:209964 |
Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia, Sudden cardiac death |
ORPHA:770 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Failure to thrive, Decreased circulating Ig... |
OMIM:615767 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Increased circulating a... |
OMIM:618495 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... |
OMIM:616394 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... |
OMIM:613662 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormal intestine morphology, Vomiting, Failure to thrive, Diar... |
OMIM:606528 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Diarrhea |
OMIM:614102 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Diarrhea, Arrhythmia, Constipation |
ORPHA:85447 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis |
OMIM:615947 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Vomiting, Helicobacter pylori infection, Nausea, Abnormal gastric mucos... |
ORPHA:2494 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Idiopathic Achalasia |
|
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux |
ORPHA:930 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Diarrhea 9 |
|
Failure to thrive, Diarrhea, Villous atrophy |
OMIM:618168 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... |
ORPHA:100082 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... |
ORPHA:26790 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma |
ORPHA:64741 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis |
OMIM:269650 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
Linear Iga Dermatosis |
|
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Agammaglobulinemia, Diarrhea, Recurrent otitis media |
OMIM:613501 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Abnormal intestine morphology, Anorexia, Vomiting, Decreased circulating IgG level, Secret... |
OMIM:600351 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea |
OMIM:613217 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel urgency, Atypi... |
ORPHA:100080 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Coproporphyria, Hereditary |
|
Hypertension, Vomiting, Tachycardia, Increased fecal coproporphyrin 3, Diarrhea, Abdominal pain, ... |
OMIM:121300 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Diarrhea |
OMIM:616069 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... |
OMIM:619350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Verrucae, Decre... |
OMIM:618969 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Anorexia, Soft tissue sarcoma |
ORPHA:2023 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Dyspepsia, Malabsorption, Chronic diarrhea, Abnormal smal... |
ORPHA:103907 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Gastrointestin... |
ORPHA:330001 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Constipation, Abnormal gastric mucosa morphology... |
ORPHA:263665 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Immunodeficiency 76 |
|
Chronic diarrhea, B-cell lymphoma, Colitis, Recurrent pneumonia |
OMIM:619164 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy |
OMIM:615863 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Diarrhea |
OMIM:608971 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau... |
ORPHA:100075 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Failure to thrive, Decreased circulatin... |
OMIM:601495 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Congenital Short Bowel Syndrome |
|
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... |
OMIM:615237 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:619281 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant... |
OMIM:618108 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Skin rash, Enterocolitis, Di... |
OMIM:616050 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Rhabdoid Tumor |
|
Nausea and vomiting, Hypertension, Neoplasm of the central nervous system, Weight loss, Neoplasm ... |
ORPHA:69077 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... |
ORPHA:2070 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Anorexia, Weight loss, Neoplasm of the larynx, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Hepatiti... |
OMIM:300635 |
Reticular Dysgenesis |
|
Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody level, Malab... |
ORPHA:33355 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Eczema, Colitis, Failure to thrive, Decreased cir... |
OMIM:608809 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... |
ORPHA:67 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, Pan... |
OMIM:601457 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti... |
ORPHA:542323 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Chronic diarrhe... |
OMIM:618394 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal... |
ORPHA:247691 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:610370 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Sinusitis, Inflammatory abnormality of the skin, Failure to thrive, Recu... |
ORPHA:277 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea |
OMIM:614602 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Villous atrophy, Infectious encephalitis, Protracted diarrhea, F... |
OMIM:209920 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Nephroblastoma |
|
Hypertension, Neoplasm of the lung, Weight loss, Neoplasm, Neoplasm of the liver, Nephroblastoma,... |
ORPHA:654 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforat... |
OMIM:603041 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... |
OMIM:619445 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:614265 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Weight loss, Abdominal distention, Neoplasm of the liver, Increased hepatitis B... |
ORPHA:90003 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis |
OMIM:616098 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Ileal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Nausea, Functional i... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Nausea, Functional i... |
ORPHA:100077 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorption, N... |
ORPHA:2930 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Weigh... |
ORPHA:2221 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Malabsorption, A... |
ORPHA:92050 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss, Lymphoma, Breast carcinoma, B-cell lymphoma |
ORPHA:86893 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Ovar... |
ORPHA:83469 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... |
OMIM:175500 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Uveitis, Decreased circulating total IgM, Conjunctivitis, Vi... |
OMIM:614700 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Atrial fibrillation, Vomiting, Ventricular tachycardia, Atrioventricular block, Sup... |
ORPHA:137675 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Familial Colorectal Cancer Type X |
|
Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neoplasm of the skelet... |
ORPHA:440437 |
Immunodeficiency 15B |
|
Chronic diarrhea, Agammaglobulinemia, Decreased circulating antibody level, Failure to thrive |
OMIM:615592 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Autosomal Agammaglobulinemia |
|
Sinusitis, High palate, Agammaglobulinemia, Bronchiectasis, Failure to thrive, Verrucae, Chronic ... |
ORPHA:33110 |
Shigellosis |
|
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Bloody mucoid diarrhea, Vomiting,... |
ORPHA:810 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Feeding difficulties in infancy, Eosinophilic microabscess formation in the ... |
ORPHA:411696 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea, Con... |
OMIM:612692 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss, Abdominal distention, Neoplasm, Abdominal pain, Constipation |
ORPHA:168816 |
Lynch Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neop... |
ORPHA:144 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Enteric Anendocrinosis |
|
Portal hypertension, Diarrhea, Malabsorption, Vomiting |
ORPHA:83620 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss, Abdominal distention, Neoplasm, Ileus, Abdominal pain |
ORPHA:168811 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea |
OMIM:613502 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Failure to thrive, Macroglossia, Lo... |
ORPHA:308552 |
Immunodeficiency 58 |
|
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... |
OMIM:618131 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypot... |
OMIM:261740 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Weight loss, Arthrit... |
ORPHA:732 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... |
ORPHA:298 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Pfapa Syndrome |
|
Nausea and vomiting, Infectious encephalitis, Weight loss, Malabsorption, Arthritis, Abdominal pain |
ORPHA:42642 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Feeding difficulties, Cachexia, Weight loss |
OMIM:612075 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Diarrhea, Vomiting |
ORPHA:30925 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Intussuscep... |
OMIM:174900 |
Typhoid |
|
Infectious encephalitis, Epistaxis, Gastrointestinal hemorrhage, Cardiac arrest, Skin rash, Diarr... |
ORPHA:99745 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hypertension, Diarrhea, Vomiting |
OMIM:231690 |
Immunodeficiency, Common Variable, 2 |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent otiti... |
OMIM:240500 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Gastroesophag... |
ORPHA:542306 |
Thymoma |
|
Prostate neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Neoplasm of the gastrointestina... |
ORPHA:99867 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Abdominal pain, Hypertension, Red... |
ORPHA:563 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Anorexia, Gastrointestinal infarctions, Weight loss, H... |
ORPHA:3287 |
Carcinoid Syndrome |
|
Right ventricular failure, Nausea and vomiting, Facial telangiectasia, Atypical pulmonary carcino... |
ORPHA:100093 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Failure to thrive, Chronic ... |
ORPHA:47 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... |
ORPHA:324964 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Neur... |
ORPHA:913 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Intestinal obstruction, Gas... |
ORPHA:97286 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Constipation, Palpitations, Weight loss, Obesity, Shortened PR interval, S... |
ORPHA:79102 |
Kaposi Sarcoma |
|
Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Weight loss, Skin rash, Abnormali... |
ORPHA:33276 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Feeding difficulties, Cachexia, Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Chylomicron Retention Disease |
|
Vomiting, Failure to thrive, Steatorrhea, Malnutrition, Diarrhea |
OMIM:246700 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Malnutrition, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Dec... |
ORPHA:75565 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Failure to thrive, Lymp... |
ORPHA:911 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Mpi-Cdg |
|
Portal hypertension, Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemo... |
ORPHA:79319 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Ileal ulcer, Skin rash, Anterior uveitis |
OMIM:616744 |
American Trypanosomiasis |
|
Myocarditis, Aganglionic megacolon, Infectious encephalitis, Cardiomyopathy, Achalasia, Congestiv... |
ORPHA:3386 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Facial telangiectasia, Neuroendocrine neoplasm, Anorexia, Neoplasm of ... |
ORPHA:100085 |
Hodgkin Lymphoma |
|
Weight loss, Anorexia, Neoplasm, Lymphoma |
ORPHA:98293 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Chronic lymphatic leukemia, Inflammation of the large intestine, Increase... |
ORPHA:3243 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Anorexia, Abdominal cramps, Leukemia, Weight loss, Malabsorption, Decreased ... |
ORPHA:98850 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Malabsorption, Ar... |
ORPHA:229717 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Nausea, Palpitations, Weight loss, Paraganglioma, Episodic abdominal pain, C... |
ORPHA:94080 |
Turcot Syndrome With Polyposis |
|
Thyroid carcinoma, Astrocytoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Abdominal distention, Malabsorption, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Immunodeficiency 31C |
|
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Diarrhea |
OMIM:614162 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Diarrhea |
ORPHA:49827 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Pancreatitis, Chronic diarr... |
ORPHA:65682 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, Arrhythmia, Abd... |
ORPHA:188 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Il... |
ORPHA:100079 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Arrhythmia, Skin rash |
ORPHA:29822 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... |
ORPHA:90068 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia, Abnormal cardiovascular system physiology |
ORPHA:50251 |
Immunodeficiency 55 |
|
Eczema, Diarrhea, Myelodysplasia, Recurrent skin infections |
OMIM:617827 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Anorexia, Bowel urgency, Pneumonia, Protracted ... |
ORPHA:97287 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Abnormal intestine morphology, Vomiting, Budd-Chiari syndrome, Pneumonia, Decreased circulating a... |
OMIM:226300 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Weight loss, Feeding difficulties |
ORPHA:79238 |
Anal Sphincter Dysplasia |
|
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation |
OMIM:105563 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Myelodysplasia, Vomiting, Nausea, Failure to thrive, Feeding difficulties, Cerebral ischemia, Rey... |
ORPHA:927 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Dysphagia |
ORPHA:1177 |
Glossopharyngeal Neuralgia |
|
Syncope, Feeding difficulties, Weight loss, Odynophagia, Bradycardia, Neoplasm, Schwannoma, Oral-... |
ORPHA:221098 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... |
OMIM:301220 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Cholesteatoma, Hepatitis, Gastritis, Crohn's disease, Decreased circulating total... |
OMIM:619381 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Vomiting, Diarrhea, Abdomi... |
OMIM:248360 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Failure t... |
ORPHA:1329 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Nausea, Weight loss, Chron... |
ORPHA:98849 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... |
ORPHA:37042 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... |
OMIM:614328 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis |
OMIM:604416 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Diarrhea, Protein-losing enteropathy |
OMIM:602579 |
Budd-Chiari Syndrome |
|
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Intestin... |
ORPHA:131 |
Porphyria, Acute Intermittent |
|
Hypertension, Vomiting, Nausea, Hepatocellular carcinoma, Tachycardia, Paralytic ileus, Diarrhea,... |
OMIM:176000 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea |
ORPHA:231 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Failure ... |
ORPHA:169160 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Weight loss, Medullary thyroid carcinoma, Neoplasm of the skelet... |
ORPHA:1332 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea |
ORPHA:178029 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Weight loss, Cardiomyopathy, Raynaud phenomenon, Abnormality of the g... |
ORPHA:767 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6, Vomiting, Small for gestational age, Functional abnormality ... |
ORPHA:90051 |
Ppoma |
|
Nausea and vomiting, Adrenocortical adenoma, Anorexia, Hypoactive bowel sounds, Weight loss, Neop... |
ORPHA:97278 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Vomiting, Permanent atrial fibrillati... |
ORPHA:31825 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Autoimmune Hepatitis |
|
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing chol... |
ORPHA:2137 |
Grfoma |
|
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... |
ORPHA:97261 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Dysphagia, Nausea, Poor appetite, Diarrhea, Arrhythmia |
ORPHA:352447 |
Cog7-Cdg |
|
Failure to thrive, Feeding difficulties, Diarrhea, Small for gestational age |
ORPHA:79333 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Neuroblastoma, Ganglioneuroblastoma, Failure to thrive, Weight loss, Ganglioneuroma... |
OMIM:256700 |
Carney Triad |
|
Nausea and vomiting, Hypertension, Anorexia, Gastrointestinal stroma tumor, Adrenocortical adenom... |
ORPHA:139411 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... |
ORPHA:793 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Colitis, Recurrent sinusitis |
OMIM:613101 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Pseudobulbar paralysis, Vomiting, Epistaxis, Tachycardia, Cerebral ische... |
ORPHA:449285 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Diarrhea, Arrhythmia, Nausea |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal salivary gland morphology, Dysphagia, Abnormal P wave, Xero... |
ORPHA:85443 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Xerostomia, Palpitations, Diarrhea, Constipation |
OMIM:133020 |
Thrombotic Thrombocytopenic Purpura |
|
Myocardial infarction, Diarrhea, Arrhythmia, Abdominal pain |
ORPHA:54057 |
Immunodeficiency 27A |
|
Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Increased circulating IgG level, Incr... |
OMIM:209950 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Botulism |
|
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Arrhythmia, Abdominal pain, Constipation |
ORPHA:1267 |
Mental Retardation, Autosomal Dominant 57 |
|
High palate, Feeding difficulties, Otitis media, Diarrhea, Constipation |
OMIM:618050 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Failure to thrive, Decreased circulating IgA level, Decreased circ... |
OMIM:300400 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive, Diarrhea, Hypotension |
OMIM:264350 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Liposarcoma |
|
Nausea and vomiting, Weight loss, Abdominal pain, Sarcoma |
ORPHA:69078 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Abdominal pain, Hematoch... |
OMIM:203300 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Morphological abnormality of the gastrointestinal tract, Achalasia, Hypoperistalsis, Uterine neop... |
ORPHA:1018 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal ... |
ORPHA:90038 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Microscopic Polyangiitis |
|
Sinusitis, Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Episcleritis, Periton... |
ORPHA:727 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Tube feeding, Villous atrophy, Eczema, Vomiting, Erythroderma, Decr... |
OMIM:619510 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Myelodysplasia, Pustule, Myositis, Increased circulating ant... |
ORPHA:48104 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Inflammation of the large intestine, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Coronary Arterial Fistula |
|
Syncope, Bacterial endocarditis, Systolic heart murmur, Continuous heart murmur, Palpitations, El... |
ORPHA:2041 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Sinusitis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Transi... |
ORPHA:183 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Abnormal intestine morphology, Diarrhea |
OMIM:609313 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Gastrointestinal hemorrhage, Vasculitis, Abdominal pain, Hypertension, Perica... |
ORPHA:91139 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Bloody diarrhea, Increased circulating interleukin 6, Gastrointestinal... |
ORPHA:544482 |
Foodborne Botulism |
|
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Arrhythmia, Abdominal pain, Constipation |
ORPHA:228371 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recu... |
OMIM:607594 |
Cutaneous Mastocytoma |
|
Vomiting, Nausea, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculop... |
ORPHA:79455 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss, Increased circulating antibody level |
ORPHA:411593 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Nausea, Failure to thrive, Fasciitis,... |
ORPHA:39812 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Failure to thrive in infancy, Feeding difficulties in infancy, Hypovolemic sho... |
ORPHA:171876 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Vomiting, Failure to thrive, Feeding difficulties, Diarrhea, Hypotension |
OMIM:177735 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abdominal distention... |
ORPHA:1876 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Gastrointestinal... |
ORPHA:343 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Failure to thrive in infancy, Pancreatitis, Chronic diarrhea, Reduced sys... |
OMIM:618805 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Rectal fistula, Intestinal obstruction, Ab... |
ORPHA:70475 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Adrenocortical adenoma, Adenoma sebaceum, Esophagitis, Insulinoma,... |
OMIM:131100 |
Somatostatinoma |
|
Nausea and vomiting, Adrenocortical adenoma, Anorexia, Weight loss, Neoplasm of the pancreas, Neo... |
ORPHA:97283 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... |
OMIM:615207 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Porphyria |
|
Nausea and vomiting, Hypertension, Anorexia, Diarrhea, Abdominal pain, Constipation |
ORPHA:738 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Cholangitis, Feeding difficulties in infancy, Eczema, Abdominal distentio... |
ORPHA:3260 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Vomiting, Failure to thrive, Abdominal distention, Decreased liver function, Diarrhea, Protein-lo... |
OMIM:608104 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Increased circulatin... |
ORPHA:319218 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypertension, Tubulointerstitial nephritis, Vomiting, Nausea, Weight loss, Intestinal perforation... |
ORPHA:85450 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Abnormality of small intestinal villus morphology, Hypovol... |
ORPHA:2290 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Weight los... |
ORPHA:2126 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Vomiting, Nausea, Atrioventricular block, Abnormal atrioventricular conduction, Chronic diarrhea |
OMIM:118230 |
Zygomycosis |
|
Myocarditis, Sinusitis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... |
ORPHA:73263 |
Refractory Celiac Disease |
|
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Lym... |
ORPHA:398063 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Increased circulating IgA level, Panniculitis, Chronic diarrhea, Va... |
OMIM:617099 |
Necrotizing Enterocolitis |
|
Shock, Bloody diarrhea, Vomiting, Peritonitis, Small for gestational age, Abdominal distention, B... |
ORPHA:391673 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Decreased circulating IgA level, Macrogl... |
OMIM:242860 |
Hyaline Fibromatosis Syndrome |
|
Gingival fibromatosis, Diarrhea |
OMIM:228600 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Hemangioma, Hemang... |
ORPHA:79076 |
Whipple Disease |
|
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Malabsorption, ... |
ORPHA:3452 |
Enterokinase Deficiency |
|
Failure to thrive, Diarrhea |
OMIM:226200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Nausea and vomiting, Failure to thrive, Weight loss, Diarrhea |
ORPHA:1842 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Diarrhea, Villous atrophy, Malabsorption |
OMIM:600955 |
Polycythemia Vera |
|
Hypertension, Myelodysplasia, Acute leukemia, Budd-Chiari syndrome, Weight loss, Epistaxis, Inter... |
ORPHA:729 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrh... |
OMIM:616740 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Dysphagia, Failure to thrive, Macro... |
ORPHA:365 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Esophageal varix, Hepatic failure |
ORPHA:75234 |
Rett Syndrome |
|
Cachexia, Abnormal T-wave, Prolonged QTc interval, Gastroesophageal reflux, Constipation |
OMIM:312750 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG ... |
OMIM:607271 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... |
ORPHA:679 |
Glycogen Storage Disease Ii |
|
Macroglossia, Wolff-Parkinson-White syndrome, Shortened PR interval |
OMIM:232300 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon, Prolonged QT interval, Ganglioneuroblastoma, Neoplasm of the nervous syste... |
ORPHA:2151 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intestinal carcinoid, Palpitat... |
ORPHA:100076 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Feeding difficulties in infancy, Diarrhea, Malabsorption |
OMIM:229050 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Thyroid carcinoma, Basal cell carcinoma, Hepatitis, Gastritis, Vasculitis, ... |
ORPHA:3261 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Sudden cardiac death, Necrotizing enteroc... |
OMIM:201475 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Mastocytosis |
|
Nausea and vomiting, Anorexia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Sarc... |
ORPHA:98292 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Shortened QT interval, Thyroid carcinoma, Meningioma, Gingival fibromatosis, Insu... |
ORPHA:652 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... |
ORPHA:540 |
Immunodeficiency 69 |
|
Failure to thrive, Diarrhea, Skin rash |
OMIM:618963 |
Glucose-Galactose Malabsorption |
|
Vomiting, Failure to thrive, Abdominal distention, Weight loss, Hyperactive bowel sounds, Malnutr... |
ORPHA:35710 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Dysphagia, Shortened QT interval, Thyroid carcinoma, Parathyroid carcinoma, ... |
ORPHA:143 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... |
ORPHA:391487 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Classic Hodgkin Lymphoma |
|
Anorexia, Weight loss, Neoplasm, Lymphoma, Poor appetite, Skin rash |
ORPHA:391 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Weight loss, Ar... |
ORPHA:29207 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Failure to thrive, Weight loss, Pulmonic stenosis, Aortic valve stenosis |
OMIM:143880 |
Dengue Fever |
|
Cerebral hemorrhage, Nausea and vomiting, Epistaxis, Gastrointestinal hemorrhage, Skin rash, Diar... |
ORPHA:99828 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Abdominal pain, Vomiting, Nausea |
ORPHA:79457 |
Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctivitis, Vomiting, Myositis, Oligoarthritis, Chronic diarrhea, Gastrointestinal hemorrhage... |
OMIM:142680 |
Familial Mediterranean Fever |
|
Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Peritonitis, Osteoarthritis, Mal... |
ORPHA:342 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... |
ORPHA:98897 |
Glucagonoma |
|
Nausea and vomiting, Abnormal gastrointestinal motility, Anorexia, Adrenocortical adenoma, Stomat... |
ORPHA:97280 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Epistaxis, Diarrhea, Fat malabsorption |
OMIM:211600 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Nausea, Palpitation... |
ORPHA:276621 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Vomiting, Myeloproliferative disorder, Gastrointestinal hemorrhage, Malnutrition, D... |
ORPHA:79456 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Vomiting, Decreased liver function, Diarrhea, Arrhythmia |
ORPHA:42 |
Aa Amyloidosis |
|
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Malnutrition, Abdominal pain, Hypotension |
ORPHA:85445 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Inflammation of the large intestine, Failure to thrive |
OMIM:617718 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Myelodysplasia, ... |
ORPHA:486 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Boutonneuse Fever |
|
Nausea, Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculopapul... |
ORPHA:83313 |
Fabry Disease |
|
Hypertension, Tenesmus, Vomiting, Nausea, Myocardial infarction, Transient ischemic attack, Conge... |
OMIM:301500 |
Erythroderma Desquamativum |
|
Failure to thrive, Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Vomiting, Nausea, Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular cond... |
OMIM:118301 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Weight loss, Steatorrhea, Exocrine pan... |
ORPHA:309031 |
Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Feeding difficulties, Diarrhea, Abdominal pain, Constipation |
OMIM:613638 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloprolifera... |
ORPHA:100924 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Steatorrhea, Hepatic failu... |
ORPHA:75233 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea |
OMIM:601110 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatocellular carcinoma, Diarrhea, Fat malabsorption |
OMIM:601847 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Vomiting, Celiac disease, Decreased circula... |
ORPHA:90363 |
Gitelman Syndrome |
|
Prominent U wave, Nausea and vomiting, Syncope, Abnormal T-wave, Prolonged QT interval, Tubuloint... |
ORPHA:358 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Malignant neoplasm of the central nervous system, Weight loss, A... |
ORPHA:142 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Testicular adrenal rest tumor, Anorexia, Vomiting, Failure to thrive... |
ORPHA:361 |
Rapadilino Syndrome |
|
Cleft palate, High, narrow palate, Diarrhea, High palate |
OMIM:266280 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... |
ORPHA:31205 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Celiac disease, Orthostatic hypotension, Failure to thrive, Weight... |
ORPHA:199299 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Failure to thrive, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Dysphagia, Esophagitis, Vomiting |
OMIM:610247 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Lymphoproliferative disorder, Failure to thrive, Abnormal immunoglobulin level, Decrea... |
ORPHA:276 |
Adiposis Dolorosa |
|
Xerostomia, Telangiectasia of the skin, Arthritis, Recurrent skin infections, Obesity, Diarrhea, ... |
ORPHA:36397 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Vomiting, Stomatitis, Failure to thrive, Decreased circulating IgA level, Abdominal diste... |
OMIM:212750 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Protracted diarrhea, Failure to thr... |
ORPHA:572 |
Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight |
ORPHA:1672 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... |
ORPHA:70578 |
Chylomicron Retention Disease |
|
Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Fat malabsorption |
ORPHA:71 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Colitis, Esophageal stenosis |
OMIM:615190 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
Lassa Fever |
|
Shock, Nausea and vomiting, Dysphagia, Increased circulating IgM level, Diarrhea, Abdominal pain,... |
ORPHA:99824 |
Alg1-Cdg |
|
Cardiomyopathy, Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal t... |
ORPHA:79327 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Nasogastric tube feeding, Vomiting, Failure to thrive |
ORPHA:289504 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Vomiting, Failure to thrive, Reye syndrome-like episodes, Acute hepatic failure, Osteomyelitis le... |
OMIM:256810 |
Multiple Endocrine Neoplasia Type 4 |
|
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... |
ORPHA:276152 |
Juvenile Dermatomyositis |
|
Dysphagia, Pericarditis, Myositis, Weight loss, Telangiectasia of the skin, Cardiomyopathy, Bundl... |
ORPHA:93672 |
Juvenile Polyposis Syndrome |
|
Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplasm of the small ... |
ORPHA:2929 |
Acute Lung Injury |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... |
ORPHA:178320 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss, Pulmonary arterial hypertension, Bronchiectasis |
ORPHA:1164 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary h... |
ORPHA:29072 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Syndromic Diarrhea |
|
Bloody diarrhea, Villous atrophy, Small for gestational age, Aortic regurgitation, Intractable di... |
ORPHA:84064 |
Selective Igm Deficiency |
|
Thyroid carcinoma, Non-infectious meningitis, Fasciitis, Raynaud phenomenon, Crohn's disease, Dec... |
ORPHA:331235 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Diarrhea, Skin rash |
OMIM:601979 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Failure to thrive, Decreased specific anti... |
OMIM:614576 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Chronic leukemia, R... |
ORPHA:906 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia |
OMIM:310200 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Hypertension, Atrial fibrillation, Episcleritis, Palpitations, Failure to th... |
ORPHA:525731 |
Legionnaires Disease |
|
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... |
ORPHA:549 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Perry Syndrome |
|
Weight loss, Hypotension |
ORPHA:178509 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Weight loss, Tachycardia |
OMIM:613239 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Failure to thrive, Otitis media, Panhypogammaglobulinemia, Diarrhea |
OMIM:602450 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Capilla... |
ORPHA:36234 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Intracranial hemorrhage, Acute leukemia, Chronic otitis media, Weight loss, ... |
ORPHA:3226 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Weight loss, Tachycardia |
OMIM:188580 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Arthritis, Lymphoma, Uveitis, Inflammatory abnormality of the ... |
ORPHA:36412 |
Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Weight loss, Skin rash |
ORPHA:317 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Eosinophilic ... |
OMIM:618999 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Diarrhea |
ORPHA:858 |
Riboflavin Transporter Deficiency |
|
Hypertension, Dysphagia, Cachexia |
ORPHA:97229 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... |
OMIM:618523 |
Imerslund-Gräsbeck Syndrome |
|
Vomiting, Failure to thrive, Weight loss, Tachycardia, Angular cheilitis, Poor appetite, Glossiti... |
ORPHA:35858 |
Carnitine Palmitoyltransferase I Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Arrhythmia |
OMIM:255120 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Failure to thrive, Feeding difficulties, Chron... |
OMIM:613489 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Nausea, Pa... |
ORPHA:231625 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Vomiting, Nausea, ST segment depression, Prolonged QT... |
ORPHA:90065 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Feeding difficulties, Failure to thrive, Hypovolemi... |
ORPHA:427 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Failure to thrive, Cheilitis, Weight loss, Furrowed tongue, Malabsorption, Chr... |
ORPHA:37 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Weight loss, Card... |
ORPHA:465508 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Diarrhea, Steatorrhea, Hepatic failure |
OMIM:235555 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Congestive heart failure |
OMIM:275000 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellula... |
ORPHA:171 |
Microsporidiosis |
|
Myocarditis, Sinusitis, Cholangitis, Hepatitis, Abdominal pain, Infectious encephalitis, Vomiting... |
ORPHA:2552 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Noncompaction cardiomyopathy, Weigh... |
ORPHA:3208 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Steatorrhea, Hepatic failure, Diarrhea, Fat malabsorption |
OMIM:607765 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia, Acute infectious pneumonia, Bronchiectasis |
ORPHA:60033 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatitis, Steatorrhea, Hepatic failure, Diarrhea |
OMIM:613812 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Cachexia, Esophageal varix, Vomiting, Failure to thrive, Feeding difficultie... |
ORPHA:275761 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux |
OMIM:109350 |
Hereditary Angioedema Type 1 |
|
Dysphagia, Vomiting, Nausea, Intestinal edema, Abnormal soft palate morphology, Abnormal uvula mo... |
ORPHA:100050 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Inflammation of the large intestine, Joint hemorrhage, Epistaxis, Hepatic fa... |
ORPHA:331 |
Immunodeficiency 22 |
|
Failure to thrive, Panniculitis, Diarrhea |
OMIM:615758 |
Igg4-Related Aortitis |
|
Weight loss, Increased circulating IgG4 level, Increased inflammatory response, Intestinal obstru... |
ORPHA:449400 |
Mast Cell Sarcoma |
|
Sarcoma, Weight loss |
ORPHA:66661 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Diarrhea, Poor appetite |
OMIM:201100 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Dextrocardia |
|
Neuroblastoma, Meckel diverticulum, Intestinal malrotation, Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Alternating Hemiplegia Of Childhood |
|
Dysphagia, Anorexia, Abnormal T-wave, Vomiting, Cardiac conduction abnormality, Gastrointestinal ... |
ORPHA:2131 |
Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
Plague |
|
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Erythema nodosum, Vomiting, Endoc... |
ORPHA:707 |
Waldenström Macroglobulinemia |
|
Anorexia, Leukemia, Monoclonal immunoglobulin M proteinemia, Epistaxis, Malabsorption, Lymphoma, ... |
ORPHA:33226 |
Lysosomal Acid Lipase Deficiency |
|
Portal hypertension, Esophageal varix, Vomiting, Failure to thrive, Protuberant abdomen, Acute he... |
OMIM:278000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... |
ORPHA:139402 |
Dopamine Beta-Hydroxylase Deficiency |
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Syncope, Vomiting, Orthostatic hypotension, Orthostatic syncope, Rhinitis, Abnormal EKG, Diarrhea |
ORPHA:230 |
Progressive Nodular Histiocytosis |
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Cachexia |
ORPHA:158022 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Inflammatory abnormality of the skin, Prolonged QT interval, Vomiting, Sm... |
ORPHA:26793 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Prolonged Q... |
ORPHA:71212 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Failure to thrive in infancy, Recurrent aspiration pneumonia, Pulmonary hemorrhage, Chronic mucoc... |
ORPHA:79124 |
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