Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis |
ORPHA:3217 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Corneal erosion, Hypohidrosis, Erythroderma, Failure to thrive, Ectropion |
ORPHA:79394 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Lipoma Of The Conjunctiva |
|
Lipoma, Conjunctival lipoma |
OMIM:151700 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... |
OMIM:308800 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Laryngeal papilloma, Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate ker... |
OMIM:617388 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Melanoma, Conjunctivi... |
OMIM:278730 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... |
OMIM:603165 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Nausea, Abdominal pain, Bronchiectasis,... |
ORPHA:99921 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Idiopathic Pulmonary Fibrosis |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl... |
ORPHA:2032 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Co... |
OMIM:278750 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Primary amenorrhea, Gastric ulcer, Oligomenorrhea, Impaired collagen-induced ... |
OMIM:604928 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Hepatomegaly, Abnormal large intestine morpholo... |
ORPHA:2198 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Melanoma, Conjunctivitis, Squamous ce... |
OMIM:278740 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis |
OMIM:271500 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph... |
OMIM:217090 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Squamous cell ca... |
ORPHA:477 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... |
OMIM:174900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Menke-Hennekam Syndrome 2 |
|
Epicanthus, Duodenal ulcer, Recurrent upper respiratory tract infections, Upslanted palpebral fis... |
OMIM:618333 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... |
ORPHA:141083 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Small for gestational age, Hypospadias, Allergic rhinitis, Allergic conjunctivitis, Cho... |
OMIM:176690 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide... |
ORPHA:369 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Conjunctivitis, Squamous cell carcino... |
OMIM:278720 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Cleft palate, Tubulointerstitial... |
ORPHA:33001 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Poor appetite, Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Macrovesicular he... |
ORPHA:298 |
Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Bronch... |
ORPHA:33110 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... |
OMIM:601457 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis |
ORPHA:2111 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab... |
OMIM:619381 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, ... |
ORPHA:2930 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Splenomegaly, Panacinar emphysema, Bronchiecta... |
OMIM:613490 |
Arteriosclerosis, Severe Juvenile |
|
Central retinal vessel vascular tortuosity, Gastric ulcer, Calcification of the aorta, Arterioscl... |
OMIM:208060 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum... |
OMIM:300635 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis |
OMIM:613860 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tr... |
ORPHA:93941 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pulmonary f... |
OMIM:178500 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Jaun... |
ORPHA:913 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Luo-Schoch-Yamamoto Syndrome |
|
Tricuspid regurgitation, Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of low... |
OMIM:619460 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Bilateral cryptorchidism, Pyloric stenosis, Developmental cataract, ... |
OMIM:616395 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Opacification of the corneal stroma, ... |
OMIM:205400 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Epidermolysis Bullosa Acquisita |
|
Pruritus, Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Hepatic fibrosis, Protein-losing enteropathy, C... |
OMIM:602579 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Idiopathic Achalasia |
|
Bronchitis, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration p... |
ORPHA:930 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent ... |
OMIM:240500 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Squamous cell carcinoma of the sk... |
OMIM:278700 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig... |
ORPHA:26790 |
Immunodeficiency 46 |
|
Failure to thrive, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Abnormal pu... |
ORPHA:2072 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology, Gastroin... |
OMIM:602248 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnormal mesentery m... |
ORPHA:3463 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large intestine, Crohn's d... |
OMIM:615767 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Ectropion, A... |
ORPHA:101330 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... |
ORPHA:83469 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjunctival icterus, Jaundice, Intermitte... |
ORPHA:3111 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Cachexia, Abdominal distention, Splenomegaly, Malnutrition, Es... |
ORPHA:75233 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea |
OMIM:617175 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Growth delay, Hepatic fibrosi... |
OMIM:617341 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... |
ORPHA:47 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Harlequin Ichthyosis |
|
Ectropion, Cataract, Sudden cardiac death, Erythroderma |
ORPHA:457 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma, Limbal stem cell deficiency, Chronic rhinitis, Corneal neovas... |
OMIM:615225 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis |
OMIM:613493 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Hepatomegaly, Jaundice, Conjunctivitis |
OMIM:603552 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Subcapsular cataract, Hepatic steatosis, Ectropion |
OMIM:275630 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Ectropion of lower eyelids, Bilateral cleft lip and palate, Eurybleph... |
ORPHA:1997 |
Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... |
ORPHA:1198 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Oligoart... |
OMIM:142680 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the... |
ORPHA:722 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Renpenning Syndrome |
|
Epicanthus, Cataract, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Upslanted palpebr... |
ORPHA:3242 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Increased circulating interleukin 10 concentration, Portal inflammation, Elevated circulating ala... |
OMIM:613759 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Skin rash, Genital ulcers, Colitis, Ileal ulcer |
OMIM:616744 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar... |
OMIM:614602 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Malabsorption, Corne... |
ORPHA:37 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Keratitis, Cryptorc... |
ORPHA:910 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... |
ORPHA:1839 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Absent vas deferens, Sinusitis, ... |
ORPHA:586 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Recurrent pharyngitis, Splenome... |
ORPHA:42642 |
Chromomycosis |
|
Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, ... |
ORPHA:182 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ... |
ORPHA:141152 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
Tetrasomy 12P |
|
Telecanthus, Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Upslanted palpebral fissu... |
ORPHA:884 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Vitreous hemorrhage, Abnormal retinal vascular morphology, Small f... |
ORPHA:90050 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Ptosis, Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Nephrotic syndrome, Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Spondyloocular Syndrome |
|
Cataract, Unilateral cryptorchidism, Duodenal ulcer, Posterior subcapsular cataract, Decreased bo... |
OMIM:605822 |
Blepharocheilodontic Syndrome 2 |
|
Distichiasis, Ectropion of lower eyelids, Euryblepharon, Lagophthalmos |
OMIM:617681 |
Tularemia |
|
Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Conjunctival h... |
ORPHA:3392 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal pro... |
OMIM:219700 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Elevated hepatic transaminase, Conjunctivitis, Elevated gamma-glutamyltransferase le... |
OMIM:242150 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft palate, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Arrhythm... |
OMIM:153400 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Hepatosplenomegal... |
OMIM:619858 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol... |
OMIM:612387 |
Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Hypohidrosis |
OMIM:125595 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Conjunctival hyperemia, High palate |
OMIM:619548 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal ... |
OMIM:620045 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Arthritis, Conjunctivitis, Lens subl... |
ORPHA:448237 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema |
OMIM:191900 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr... |
ORPHA:3156 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Failure to thrive, Ectropion |
OMIM:242500 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Gastrocutaneous Syndrome |
|
Upslanted palpebral fissure, Synophrys, Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis, Hyperhidrosis |
ORPHA:47045 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Axillary pterygium, Congenital pyloric atresia, Ectropion |
OMIM:226730 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Gastroesophageal reflux, Pulmonary fibrosis, Cirrhosis, Reticular pattern on pulmonary HRCT, Usua... |
OMIM:614742 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Episodic vomiting, Hepatocellular necrosis, Periportal f... |
OMIM:201475 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous ... |
OMIM:175500 |
Uveal Melanoma |
|
Iris melanoma, Choroidal melanoma, Inferior lens subluxation, Inflammatory abnormality of the eye... |
ORPHA:39044 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis |
OMIM:612692 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis... |
OMIM:607594 |
Wiedemann-Steiner Syndrome |
|
Brow ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Blepharophimosis, Cryptorchidism, ... |
OMIM:605130 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Weight loss, Reticulonodular pa... |
ORPHA:133 |
Linear Iga Dermatosis |
|
Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Diarr... |
ORPHA:436159 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Splenom... |
OMIM:616050 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... |
OMIM:615415 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu... |
OMIM:618394 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Distichiasis, Anal atresia |
OMIM:119580 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... |
OMIM:221900 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Squamous ce... |
OMIM:226600 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Failure to thrive, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on p... |
OMIM:610921 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... |
ORPHA:234 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Vasculitis, Uveitis, Arthritis, Conjunctivitis, Recurrent ... |
ORPHA:575 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Ptosis, Hepatomegaly, Micronodular cirrhosis, Obesity, Cardiomyopa... |
ORPHA:98907 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Anal fissure, Glomerulonephritis, Corneal erosion, Malnutrition, Gastr... |
ORPHA:79408 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, R... |
OMIM:614700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Entropion, Dys... |
ORPHA:36426 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Exocrine pancreatic insuffi... |
OMIM:618268 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... |
ORPHA:77297 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Streak ovary, Duplicated lacrimal punctum, Highly arched eyebrow... |
ORPHA:572333 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating ve... |
OMIM:609313 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Orofacial Cleft 15 |
|
Bilateral cleft palate, Epicanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Ectropion o... |
OMIM:616788 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Premature ovarian ins... |
OMIM:240300 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Intestinal perforation, Myocarditis, Peritonitis, Uveiti... |
ORPHA:810 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Melanoma, Conjunctivitis, Ectropion |
OMIM:278800 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Pustule, Xerostomi... |
ORPHA:2907 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... |
ORPHA:906 |
Clouston Syndrome |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis |
OMIM:129500 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor... |
OMIM:148210 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Lymphoma, Neoplasm of the skin, Erythroderma, Ectropion |
ORPHA:3162 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration... |
ORPHA:95159 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula, Ectropion |
OMIM:615706 |
Retinal Capillary Malformation |
|
Retinal capillary hemangioma, Hyphema, Central fundal arteriolar microaneurysms, Vitreous hemorrhage |
ORPHA:71213 |
Lassa Fever |
|
Abnormal bleeding, Shock, Menometrorrhagia, Jaundice, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Cenani-Lenz Syndrome |
|
Ptosis, Cataract, High, narrow palate, Hypothyroidism, Downslanted palpebral fissures, Ectropion |
ORPHA:3258 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... |
OMIM:618913 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Thick eyebrow, Duodenal ulcer, Intestinal malrotation, Hypospad... |
OMIM:135900 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Entropion, Sud... |
ORPHA:537 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Cachexia, Hypogonadism, Dysphagia, Ptosis |
ORPHA:97229 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Crouzon Syndrome |
|
Conjunctivitis, Iris coloboma, Narrow palate, Ptosis |
ORPHA:207 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic steno... |
ORPHA:90038 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis... |
ORPHA:36913 |
Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia |
OMIM:618969 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Hepatomegaly, High palate, Ectropion |
ORPHA:85212 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Infertility, Oligomenorrhea |
ORPHA:280356 |
Proteus Syndrome |
|
Multiple lipomas, Lipoma, Limbal dermoid, Hemangioma, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis... |
OMIM:617321 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Leukocoria... |
ORPHA:790 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Recurrent skin infections, Esophageal stricture, Abnormality of the anus, Cheili... |
ORPHA:2908 |
Ring Chromosome 10 Syndrome |
|
Downslanted palpebral fissures, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis... |
ORPHA:33355 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... |
ORPHA:2357 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Di... |
ORPHA:652 |
Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Thick eyebrow |
ORPHA:85278 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Liver abscess, Abdominal pai... |
ORPHA:67 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, High palate, Dec... |
OMIM:618175 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Epicanthus, Cryptorchidism, Rectal prolapse, Pulmonary lymphangiectasia, Narrow palate, Pleural e... |
OMIM:235510 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous... |
OMIM:193220 |
Ichthyosis With Confetti |
|
Decreased body weight, Ectropion, Erythroderma |
OMIM:609165 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Hepatosplenomegaly, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Ectropion |
OMIM:242510 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Gastritis, Splenomegaly, Xero... |
ORPHA:809 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... |
ORPHA:131 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis, Cholecyst... |
ORPHA:99827 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Pulmonary cyst, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Anorectal anomaly, Gastroesophageal reflux, Chronic otitis media, Hyp... |
ORPHA:567 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Episo... |
ORPHA:100093 |
Dubowitz Syndrome |
|
Anal stenosis, Epicanthus, Hypospadias, Eczema, Telecanthus, Malabsorption, Cataract, Cryptorchid... |
ORPHA:235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Recurrent pneumonia, Ulcerative... |
OMIM:618935 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Lymphoma, Uveitis, Arthritis, Conjunctivitis, Small vessel... |
ORPHA:36412 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Failure to thrive, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular sep... |
OMIM:610913 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, High palate, Pulmonary fibrosis, Micropenis, Decreased testicular size |
ORPHA:457240 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Epistaxis, Elevated circulating aspartate aminotransferase concentration, Diffuse a... |
OMIM:614034 |
Poikiloderma With Neutropenia |
|
Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Telangiectasia, Co... |
OMIM:604173 |
Transketolase Deficiency |
|
Hepatomegaly, Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis |
ORPHA:488618 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Pulmonary fibrosis |
OMIM:615704 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Vascular dilatation, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric... |
OMIM:613177 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Anal stenosis, Cicatricial lagophthalmos, Absent eyelashes, Bilateral... |
OMIM:263650 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pulmonary fibrosis, Cirrhosis |
OMIM:614743 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Weight loss,... |
ORPHA:79128 |
Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
Ichthyosis, Congenital, Autosomal Recessive 4A |
|
Hepatosplenomegaly, Ectropion |
OMIM:601277 |
Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia |
ORPHA:220402 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Esophageal varix, Hepato... |
ORPHA:264580 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Malabsorption, Xerostomia, Oliguria, Gastroesophageal reflux, P... |
ORPHA:220393 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Hepatitis, Chronic mu... |
OMIM:269200 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Vasculitis, Hematochezia, Subconjunctival hemorrhage, Inflammatio... |
OMIM:617718 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Prognathism, Mandibular |
|
Ectropion of lower eyelids |
OMIM:176700 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Xerostomia, Palpitations, Hyperhidrosis |
OMIM:133020 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Vasculitis, Arthritis, Keratoconjunct... |
ORPHA:91138 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Aspergillosis |
|
Pneumonia, Abnormality of the kidney, Hypersensitivity pneumonitis, Bronchiectasis, Hepatitis, Pu... |
ORPHA:1163 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Anore... |
ORPHA:3452 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Telecanthus, Corneal opacity, Small for gestational ... |
OMIM:301056 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Arterioven... |
ORPHA:1059 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Abnormality of the spleen,... |
ORPHA:2552 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Esophageal stricture, Hepatic fibrosis, Pulmonary fibrosis, Failure to thrive... |
OMIM:613989 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Epicanthus, Eczema, High, narrow palate, Cryptorchidism, Dev... |
ORPHA:33364 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Constipation, Ptosis |
ORPHA:52503 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Hypogonadism, Ectropion |
ORPHA:2269 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Lagophthalmos, Nodular re... |
ORPHA:404454 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Achalasia, Abnormality of the female gen... |
ORPHA:1018 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis, Male hypogonadism |
ORPHA:90322 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Synophrys, Short palpebral fissure, Ptosis |
ORPHA:2471 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypohidrosis, Ectropion, Erythroderma |
OMIM:615023 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Urinary bladder inflammation, Congenital pyloric atresia, Intestinal a... |
ORPHA:79403 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Abnormal renal morphology, Pleural empyema, Pulmonary fibrosis, Pleuritis,... |
ORPHA:449280 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Obesity, D... |
ORPHA:2377 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver ... |
OMIM:612284 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels |
OMIM:248510 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Arthritis, Panniculi... |
OMIM:617591 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M... |
ORPHA:1791 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... |
OMIM:614878 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight los... |
ORPHA:732 |
Bathing Suit Ichthyosis |
|
Hypohidrosis, Ectropion, Erythroderma |
ORPHA:100976 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Hypohidrosis, Ectropion |
OMIM:606545 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Lamellar Ichthyosis |
|
Chronic otitis media, Ectropion, Aplasia/Hypoplasia of the eyebrow, Erythroderma |
ORPHA:313 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/Hypoplasia of th... |
ORPHA:1834 |
Jacobsen Syndrome |
|
Epicanthus, Cataract, Ectropion, Eczema, Intestinal malrotation, Pyloric stenosis, Cryptorchidism... |
ORPHA:2308 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Iris hypopigmentation, Cryptorchidism, Ocular albinism, Ectropion |
ORPHA:2719 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent respiratory infections, Recurrent cutaneous abscess form... |
OMIM:618131 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Menometrorrhagia, Impaired thrombin-induced... |
ORPHA:849 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Anteriorly plac... |
OMIM:239300 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... |
OMIM:617093 |
Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Pulmonary fibrosis |
OMIM:619510 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss |
ORPHA:3389 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Weight loss, Dysphagia, Pleur... |
ORPHA:50251 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia |
ORPHA:254361 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper... |
OMIM:300972 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Vitreous hemorrhage, Subcapsular cataract |
OMIM:601813 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Braddock Syndrome |
|
Failure to thrive, Pulmonary fibrosis, Unilateral renal agenesis |
ORPHA:52047 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr... |
OMIM:615630 |
Idiopathic Bronchiectasis |
|
Cachexia, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Rec... |
ORPHA:60033 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... |
ORPHA:186 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Cachexia, Narrow palate, Gastroesophageal reflux, High palate, Ptosis |
OMIM:618186 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Kabuki Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Cleft palate, Long eyelashes, Recurrent otitis media, Pulmonic... |
OMIM:300867 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin... |
ORPHA:541423 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Malabsorption, Sebo... |
ORPHA:2796 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly,... |
ORPHA:47612 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Cdags Syndrome |
|
Ptosis, Sparse eyelashes, Sparse eyebrow, Rectourethral fistula, Cleft palate, Rectovaginal fistu... |
OMIM:603116 |
Infant Botulism |
|
Mydriasis, Cardiac arrest, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dys... |
ORPHA:178478 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive ... |
ORPHA:79124 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, Developmental cataract, High pal... |
OMIM:616809 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent sinusitis, Recurre... |
OMIM:601495 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Recurrent bacterial skin infections, Increased stool urobilinogen concentratio... |
ORPHA:79277 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Postaxial Acrofacial Dysostosis |
|
Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures, Cleft palate |
ORPHA:246 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Myocarditis, Xerostomia, K... |
ORPHA:81 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Decreased HDL cholesterol... |
ORPHA:247585 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... |
OMIM:618999 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent respiratory inf... |
OMIM:607616 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Hematochezia, Inflammation of the large intestine, ... |
OMIM:203300 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir... |
ORPHA:40923 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Cryptorchidism, Uveitis, Hypohidrosis, Hyp... |
ORPHA:90321 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Lacrimal duct atresia, Conjunctivitis, Lacrimal duct aplasia |
OMIM:620192 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Decreased fertility, Secondary amenorrhea, Primary... |
ORPHA:243 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... |
OMIM:251880 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Ectropion, Erythroderma |
OMIM:242300 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Narrow palate, Eversion of lateral third of lower eyelids, Slender build, Ptosis |
ORPHA:364028 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Uveitis, Conjunctival hyperemia, Internal hemorrhage, Abnormal bleeding, Maculopapul... |
ORPHA:99826 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Bilateral ptosis, Xerostomia, Bruising susceptibility, Cardiomyopathy, ... |
ORPHA:85448 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Cleft palate, Conjunc... |
OMIM:106260 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, Rectal pr... |
ORPHA:508 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ... |
ORPHA:509 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Cleft palate, Hyperechogenic kidneys |
OMIM:613885 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Abnormal pulmonary ... |
ORPHA:330001 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Splenomegaly, Chronic diarrhea, Esophage... |
OMIM:614576 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Crouzon Syndrome |
|
Keratitis, High palate, Conjunctivitis, Shallow orbits, Dysgerminoma |
OMIM:123500 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Cataract, Small for gestational age, Malabsorption, Telangiectasia, Micro... |
OMIM:601675 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Epicanthus, Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Downslant... |
OMIM:616801 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Hypohidrosis, Ectropion, Erythroderma |
OMIM:612281 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Corneal scar... |
OMIM:301220 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... |
ORPHA:75234 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... |
OMIM:619339 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, External genital hypoplasia, Anal atresia |
OMIM:613390 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Nephrotic syndrome, H... |
ORPHA:110 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Poor appetite, Osteomyelitis, Pruritus, Vasculitis, Art... |
ORPHA:324964 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... |
OMIM:263000 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, In... |
ORPHA:454836 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Pulmonary hypoplasia, Enlarged k... |
OMIM:314390 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Peritonitis, Vasc... |
ORPHA:32960 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Weight loss, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, ... |
ORPHA:319213 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, ... |
ORPHA:293173 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Sparse or absent eyelashes, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:1231 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morpho... |
OMIM:616414 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... |
ORPHA:2538 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hepatosplenomegaly,... |
ORPHA:275761 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired ristocetin-indu... |
OMIM:614201 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... |
OMIM:193235 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |