Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... |
ORPHA:424019 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Dysphagia, Ectropion, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... |
ORPHA:209964 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Ptosis, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Ectropion, Hemangioma, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long pa... |
OMIM:602562 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Esophageal ulceration, Gastric ulcer, Impaired platelet aggregation |
OMIM:618372 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Corneal erosion, Ectropion, Failure to thrive, Keratitis, Hypohidrosis |
ORPHA:79394 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Vomiting, Neoplasm of the rectum, ... |
ORPHA:2869 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma, Lipoma |
OMIM:151700 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Ectropion, Corneal dystrophy, Keratitis, Sparse and thin eyebrow,... |
OMIM:308800 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... |
ORPHA:70482 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... |
OMIM:613662 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Cataract, Corneal neovasculariz... |
OMIM:278730 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Failure to thrive, Punctate keratitis, Thyroiditis, Uve... |
OMIM:617388 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Abnormal intestine morphology, Growth delay, Hepatic fibrosis, Cirrhosis, Cholestasis |
OMIM:609313 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, ... |
OMIM:602579 |
Xeroderma Pigmentosum, Variant Type |
|
Cutaneous melanoma, Telangiectasia, Ectropion, Basal cell carcinoma, Keratitis, Squamous cell car... |
OMIM:278750 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Cataract, Keratoconus, C... |
OMIM:603165 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Bronchiectasis, Abnormal pulmonary interstitial morphology, Reticular pattern on ... |
ORPHA:2032 |
Xeroderma Pigmentosum, Complementation Group E |
|
Telangiectasia, Ectropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Keratitis, ... |
OMIM:278740 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Ganglioneuroma |
|
Colorectal polyposis, Abnormality of the orbital region, Functional intestinal obstruction, Episo... |
ORPHA:251992 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg... |
ORPHA:2198 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Diarrhea, Abdominal pain, Phimosis, Esophageal ulceration, Abnormal esophagus morpholo... |
ORPHA:99921 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Gastric ulcer, Impaired collagen-induced platelet aggregation, Primary amenorrhea... |
OMIM:604928 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Nephritis, Periodontitis, Recurrent upper respiratory tract infections, Conjuncti... |
OMIM:217090 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Barrett Esophagus |
|
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma |
OMIM:614266 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Hypospadias, Allergic rhinitis, Small for gestational age, Vomiting, Cho... |
OMIM:176690 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Splenomegaly |
OMIM:271500 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
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, Oti... |
OMIM:601457 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abdominal distention, Small intestinal dysmotility, Diarrhea, Abdominal pain, Vomiting, Hypogonad... |
ORPHA:298 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... |
OMIM:174900 |
Cystic Fibrosis |
|
Hepatomegaly, Malabsorption, Recurrent respiratory infections, Pulmonary fibrosis, Exocrine pancr... |
ORPHA:586 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Telangiectasia, Ectropion, Basal cell carcinoma, Squamous cell carcinoma of t... |
OMIM:278720 |
Nasolacrimal Duct Cyst |
|
Narrow palpebral fissure, Dacryocystocele, Corneal astigmatism, Dacryocystitis, Red eye, Nasolacr... |
ORPHA:141083 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Tubulointerstitial nephritis, Corneal erosion, Ectropion, Ptosis, Fibrosarcoma, Rec... |
ORPHA:33001 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Recurrent upper... |
OMIM:618333 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... |
OMIM:619662 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Kid Syndrome |
|
Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Corneal erosion, Acne inversa, Limbal stem... |
ORPHA:477 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Volvulus, Abnormality of the liver, Intussusception, Intestinal bleeding |
OMIM:112200 |
Aa Amyloidosis |
|
Hepatomegaly, Vomiting, Nausea, Nephrotic syndrome, Abnormality of the kidney, Malabsorption, Chr... |
ORPHA:85445 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... |
ORPHA:424016 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections |
OMIM:613860 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Esophageal varix, Pulmonary hypoplasia, Hepatic cysts, Tubulointe... |
OMIM:263200 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Peptic ulcer, Nausea, Weight loss, Esophagitis, Episodic abdominal pain, Intestin... |
ORPHA:913 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Gastric ulcer, Calcification of the... |
OMIM:208060 |
Autosomal Agammaglobulinemia |
|
Sinusitis, High palate, Bronchiectasis, Chronic otitis media, Failure to thrive, Verrucae, Hepati... |
ORPHA:33110 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... |
OMIM:300635 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Ptosis, Abdominal di... |
ORPHA:1876 |
Xeroderma Pigmentosum, Complementation Group A |
|
Telangiectasia, Ectropion, Keratitis, Entropion, Melanoma, Conjunctivitis |
OMIM:278700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Trac... |
ORPHA:93941 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Tangier Disease |
|
Hepatomegaly, Ectropion, Cicatricial ectropion, Myocardial infarction, Opacification of the corne... |
OMIM:205400 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cirrhosis, Pulmonary fibrosis, Usual... |
OMIM:178500 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurrent otitis media, Crohn's disease,... |
OMIM:601495 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... |
OMIM:266600 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... |
OMIM:618955 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru... |
OMIM:613496 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Portal hypertensi... |
OMIM:278000 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Ma... |
ORPHA:2930 |
Idiopathic Achalasia |
|
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux, Br... |
ORPHA:930 |
Anal Sphincter Myopathy, Internal |
|
Abnormality of the anus, Constipation |
OMIM:105565 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Epidermolysis Bullosa Acquisita |
|
Pruritus, Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Luo-Schoch-Yamamoto Syndrome |
|
Highly arched eyebrow, Almond-shaped palpebral fissure, Failure to thrive, Recurrent otitis media... |
OMIM:619460 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic mucocutaneous candidiasis, Melena, Recurrent pneumonia, Cataract, Opacificatio... |
OMIM:158310 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Abnormality of the periton... |
ORPHA:26790 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnor... |
ORPHA:567983 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
De Sanctis-Cacchione Syndrome |
|
Telangiectasia, Ectropion, Keratitis, Entropion, Melanoma, Conjunctivitis |
OMIM:278800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Br... |
OMIM:619381 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cachexia, Abnormality of the spleen, Gastric ulcer, Esophageal varix, Azo... |
ORPHA:2072 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... |
OMIM:615382 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Failure to thrive, Splenomegaly, In... |
OMIM:618495 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Failure to thrive, Crohn's disease, Recurre... |
OMIM:615767 |
Mantle Cell Lymphoma |
|
Weight loss, Anorexia, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Retinal Venous Beading |
|
Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilatations, Ab... |
OMIM:180080 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Ovarian neoplasm, Neoplasm of the lung, Hepatomegaly, Abdominal di... |
ORPHA:83469 |
Malignant Atrophic Papulosis |
|
Abnormal conjunctiva morphology, Constrictive pericarditis, Gastrointestinal hemorrhage, Gastroin... |
OMIM:602248 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Retinal arteritis, Hypopyon, Corneal keratic precipitates, Posterior uvei... |
ORPHA:209959 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft lip and palate, Abnormal eyelid morphology, Anal atresia, Euryblepharon, Distichi... |
ORPHA:1997 |
Porphyria Cutanea Tarda |
|
Abnormal erythrocyte enzyme level, Increased fecal porphyrin, Elevated hepatic iron concentration... |
ORPHA:101330 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Gastrointestinal hem... |
ORPHA:79319 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Vomiting, Ptosis, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Sl... |
OMIM:603041 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Hepatomegaly, Esophageal varix, Abdominal distention, Splenomegaly... |
ORPHA:75233 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Erythroderma, Cataract, Ectropion |
ORPHA:457 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, Gastroint... |
OMIM:175200 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Bronchiectasis, Recurrent otitis media, Neoplasm, Lymphoma, Recurrent pneumonia, Re... |
OMIM:240500 |
Wolfram Syndrome |
|
Feeding difficulties in infancy, Gastric ulcer, Abnormality of mesentery morphology, Malabsorptio... |
ORPHA:3463 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Congenital hepatic fib... |
ORPHA:446 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Cachexia, Rectal prolapse, Freckled genitalia, Adenomatous colonic polyposis... |
ORPHA:79076 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 |
|
Usual interstitial pneumonia, Pulmonary fibrosis |
OMIM:616373 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Cachexia, Cleft palate, Thin eyebrow, Upslanted palpebral fissu... |
ORPHA:3242 |
Rotor Syndrome |
|
Jaundice, Conjunctival icterus, Intermittent jaundice, Abnormal enzyme/coenzyme activity |
ORPHA:3111 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to thrive, Weight... |
ORPHA:47 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Keratitis, Cataract, Sparse and thin eyebrow, Blepharitis, Conjun... |
OMIM:612843 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Conjunctivitis |
OMIM:616740 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Postnatal... |
OMIM:232700 |
Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Tetrasomy 12P |
|
Cachexia, Ptosis, Upslanted palpebral fissure, Telecanthus, Abnormal soft palate morphology, Anal... |
ORPHA:884 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, ... |
OMIM:614602 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hepatomegaly, Skin rash, Conjunctivitis |
OMIM:603552 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Failure to thrive, Cirrhosis, Keratoconus, Conjunctivitis |
OMIM:242150 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Subcapsular cataract, Ectropion, Hepatic steatosis |
OMIM:275630 |
Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctival hyperemia, Hepatomegaly, Myositis, Oligoarthritis, Hepatic amyloidosis, Gastrointest... |
OMIM:142680 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Corneal neovascularization, Limbal stem cell deficiency, Carcinoma |
OMIM:615225 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:617175 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating creatine kina... |
OMIM:232400 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Chromomycosis |
|
Keratoconjunctivitis sicca, Multiple cutaneous malignancies, Ectropion, Keratitis, Eyelid retract... |
ORPHA:182 |
Hypoplasminogenemia |
|
Duodenal ulcer, Abnormality of the ovary, Periodontitis, Abnormal fallopian tube morphology, Cerv... |
ORPHA:722 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Increased... |
OMIM:613759 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Infectious encephalitis, Weight loss, Malabsorption, Arthritis... |
ORPHA:42642 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... |
OMIM:619267 |
Anus, Imperforate |
|
Ectopic anus, Anal atresia |
OMIM:301800 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis |
OMIM:613493 |
Poikiloderma With Neutropenia |
|
Recurrent otitis media, Increased circulating lactate dehydrogenase concentration, Recurrent pneu... |
OMIM:604173 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Villous atrophy, Biliary tract abnormality, Protracted diar... |
OMIM:209920 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... |
ORPHA:141152 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Abnormality of the hepatic vascula... |
ORPHA:210136 |
Xeroderma Pigmentosum |
|
Telangiectasia, Ectropion, Failure to thrive, Ankyloblepharon, Conjunctival telangiectasia, Telan... |
ORPHA:910 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia ... |
ORPHA:64743 |
Acrodermatitis Enteropathica |
|
Pustule, Corneal erosion, Cheilitis, Failure to thrive, Weight loss, Furrowed tongue, Abnormal ey... |
ORPHA:37 |
Cystic Fibrosis |
|
Hepatomegaly, Rectal prolapse, Bronchiectasis, Failure to thrive, Recurrent bronchopulmonary infe... |
OMIM:219700 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Retinopathy Of Prematurity |
|
Abnormal retinal vascular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Small f... |
ORPHA:90050 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Pulmonary artery atresia, Hepatic fibrosis |
ORPHA:306550 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fibrosis, Rec... |
ORPHA:1839 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Axillary pterygium, Congenital pyloric atresia, Esophageal atresia, Ectropion |
OMIM:226730 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia |
OMIM:617244 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... |
OMIM:616629 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... |
ORPHA:157798 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Crohn's disea... |
OMIM:618394 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology, Nephrotic syndrome |
ORPHA:401835 |
Mosaic Trisomy 14 |
|
Hypospadias, High palate, Cleft palate, Ectopic anus, Ptosis, Failure to thrive, Cryptorchidism, ... |
ORPHA:1703 |
Linear Iga Dermatosis |
|
Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent s... |
OMIM:607594 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Small for gestational age, Upslanted palpebral fissure, Anal atresia, Decreased body weight, Decr... |
ORPHA:93950 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Myeloproliferative disorder, Uveitis, Blepharitis, Iritis, Hyphema |
ORPHA:158000 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Uveitis, Arthritis, Skin rash, Conjunctivitis |
OMIM:120100 |
Radiation Proctitis |
|
Abnormal vascular morphology, Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal o... |
ORPHA:70475 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Recurrent bronchiolitis, Colitis |
OMIM:619164 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric hypertrophy, Gastric ulcer, Ptosis |
OMIM:161700 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevat... |
OMIM:615486 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis |
OMIM:149700 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Recu... |
OMIM:618108 |
Caroli Disease |
|
Cholangitis, Cholangiocarcinoma, Esophageal varix, Splenomegaly, Intrahepatic cholestasis, Portal... |
ORPHA:53035 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Gastroesophageal reflux, Usua... |
OMIM:614742 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Anterior uveitis, Ileal ulcer, Skin rash, Genital ulcers, Colitis |
OMIM:616744 |
Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Hypohidrosis |
OMIM:125595 |
Blepharocheilodontic Syndrome 2 |
|
Euryblepharon, Distichiasis, Ectropion of lower eyelids |
OMIM:617681 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dysphagia, Corneal erosion, Esophageal ulceration, Ankyloglossia, Recurrent skin infections, Anal... |
ORPHA:79408 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus |
ORPHA:2978 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Bronchiectasis, Pneumothorax, Elevated bronchoalveolar lavage fluid lymphocyte prop... |
OMIM:612387 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Tularemia |
|
Conjunctival hyperemia, Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye... |
ORPHA:3392 |
Familial Cold Urticaria |
|
Arthritis, Hyperhidrosis, Conjunctivitis |
ORPHA:47045 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract, Anal atresia |
OMIM:246000 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Pulmonary hypoplas... |
OMIM:615415 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulmonary... |
ORPHA:99931 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia, Hyperbilirubinemia |
ORPHA:101009 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Ptosis, Corneal ulceration, Distichiasis, Recurrent corneal erosions, Arrhythmia, C... |
OMIM:153400 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, High palate, Epicanthus |
OMIM:619548 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... |
OMIM:175500 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic steatosis, Necrotizing entero... |
OMIM:201475 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Pulmonary hypoplasia, Vascular dilatation, Pulmonary artery st... |
OMIM:613177 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Corneal erosion, Vomiting, Failure to thrive, Abdominal distention, Weight loss,... |
ORPHA:92050 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carc... |
ORPHA:370 |
Senior-Boichis Syndrome |
|
Esophageal varix, Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal ... |
ORPHA:84081 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Splenomegaly, Skin rash, Ent... |
OMIM:616050 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... |
ORPHA:411696 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Malabsorption, S... |
ORPHA:100025 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma, Downslanted palpebral fissures, Anal atresia |
DECIPHER:42 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i... |
OMIM:610921 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal... |
ORPHA:572333 |
Uveal Melanoma |
|
Mydriasis, Zonular cataract, Iris melanoma, Inflammatory abnormality of the eye, Vitreous hemorrh... |
ORPHA:39044 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Hyper... |
ORPHA:133 |
Isolated Congenital Alacrima |
|
Corneal erosion, Ptosis, Keratitis, Lacrimal punctal atresia, Distichiasis, Lacrimal gland hypopl... |
ORPHA:91416 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis |
OMIM:176090 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Esophageal stricture, Squamous c... |
OMIM:226600 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ... |
ORPHA:3156 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Distichiasis, Absent lower eyelashes, Epicanthus, Anal atresia |
OMIM:227260 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorp... |
ORPHA:131 |
Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia, Ptosis, Hypogonadism, Iris hypopigmentation |
ORPHA:97229 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Feeding difficulties, Cachexia, Weight loss |
OMIM:612075 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Pulmonary fibrosis |
OMIM:615704 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Ectropion, Cheilitis, Abnormality of the anus, Es... |
ORPHA:2908 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Failure to thriv... |
OMIM:614700 |
Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Abdominal diste... |
ORPHA:1198 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... |
OMIM:619377 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Renal dysplasia, Nephronophthisis, Ren... |
OMIM:266920 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Increased fecal porphyrin, Ectropion, Recurrent bacterial skin infection... |
ORPHA:95159 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Hepatomegaly, Pus... |
ORPHA:77297 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... |
ORPHA:90038 |
Blepharocheilodontic Syndrome 1 |
|
Ectropion of lower eyelids, Distichiasis, Anal atresia |
OMIM:119580 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Lung abscess, Protracted diarrhea, Gastrointestinal d... |
ORPHA:67 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma |
ORPHA:64741 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ectropion, Hypohidrosis |
OMIM:606545 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Coach Syndrome 2 |
|
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... |
OMIM:619111 |
Retinal Capillary Malformation |
|
Central fundal arteriolar microaneurysms, Vitreous hemorrhage, Retinal capillary hemangioma, Hyphema |
ORPHA:71213 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Dysphagia, Gastroesophageal reflux, Pulmonary fibrosis |
ORPHA:220402 |
Stevens-Johnson Syndrome |
|
Dysphagia, Corneal erosion, Weight loss, Pancreatitis, Dyspareunia, Myocardial infarction, Acute ... |
ORPHA:36426 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Episcleritis, Arthritis, Uveitis, Vasculitis, Skin rash, Recurrent aphthous stomati... |
ORPHA:575 |
Proteus Syndrome |
|
Limbal dermoid, Ptosis, Hemangioma, Lymphangioma, Downslanted palpebral fissures, Lipoma, Multipl... |
OMIM:176920 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Eso... |
ORPHA:264580 |
Lassa Fever |
|
Shock, Conjunctivitis, Dysphagia, Spontaneous abortion, Menometrorrhagia, Abnormal bleeding, Jaun... |
ORPHA:99824 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Pro... |
OMIM:618913 |
Sézary Syndrome |
|
Hepatomegaly, Neoplasm of the skin, Erythroderma, Ectropion, Lymphoma, Cutaneous T-cell lymphoma |
ORPHA:3162 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Prolonged bleeding time, Pulmonary fibrosis, Colitis, Renal ... |
OMIM:203300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Perianal abscess, Anal fis... |
OMIM:618935 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Ectropion, Ptosis, Downslanted palpebral fissures, Cataract, Hypothyroidism |
ORPHA:3258 |
Shigellosis |
|
Myocarditis, Hypovolemic shock, Failure to thrive in infancy, Pneumonia, Peritonitis, Acute colit... |
ORPHA:810 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Morphological abnormality of the gastrointestinal tract, Achalasia, Hypoperistalsis, Recurrent re... |
ORPHA:1018 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Infertility, Oligomenorrhea, Hepatic fibrosis |
ORPHA:280356 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Gingival bleeding, Ectropion, Transitional cell carcinoma of the bladder, Xerost... |
ORPHA:2907 |
Christianson Syndrome |
|
Feeding difficulties in infancy, Dysphagia, Cachexia, Thick eyebrow, Gastroesophageal reflux |
ORPHA:85278 |
Polymyositis |
|
Hepatomegaly, Anorexia, Weight loss, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial... |
ORPHA:732 |
Clouston Syndrome |
|
Sparse eyelashes, Cataract, Sparse and thin eyebrow, Blepharitis, Conjunctivitis |
OMIM:129500 |
Zika Virus Disease |
|
Infectious encephalitis, Lens subluxation, Spontaneous abortion, Arthritis, Iris coloboma, Subcut... |
ORPHA:448237 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Dysphagia, Xerostomia, Malabsorption, Dyspareunia, Abnormal bowel sounds, Re... |
ORPHA:220393 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratoconjunctivitis sicca, Sparse eyelashes, Trichiasis, Corneal scarring, Furrowed tongue, Abno... |
OMIM:148210 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Ectropion, Ptosis, Micronodular cirrhosis, Cardiomyopathy, Hepatic steatosis, Subca... |
ORPHA:98907 |
Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Failure to thrive, Arthritis, Ch... |
OMIM:608809 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Duodenal ulcer, Feeding difficulties in infancy, Cleft palate, High palate, Gastric ... |
OMIM:135900 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Anal atresia |
ORPHA:2310 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Petechiae, Chronic otitis media, Abnormal... |
ORPHA:906 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis sicca, Abnormal salivary gland morphology, Lacrimal gland aplasia, Absent la... |
ORPHA:2363 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon, Downslanted palpebral fissures |
ORPHA:1438 |
Retinoblastoma |
|
Hypopyon, Cleft palate, Subretinal pigment epithelium hemorrhage, Rhabdomyosarcoma, Leukemia, Red... |
ORPHA:790 |
Lichen Planus Pemphigoides |
|
Blepharitis, Conjunctivitis |
ORPHA:254478 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Hepatosplenomegaly, Colitis |
OMIM:604416 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, D... |
ORPHA:99827 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Epicanthus, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Pleural lymp... |
OMIM:235510 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Episcleritis, Retinal hemorrhage, Chronic otitis media, Weight loss, Keratitis, Uveiti... |
OMIM:608710 |
Fetal Gaucher Disease |
|
Hepatomegaly, Intracranial hemorrhage, High palate, Ectropion |
ORPHA:85212 |
Orofacial Cleft 15 |
|
Sparse eyelashes, Upslanted palpebral fissure, Epicanthus, Sparse eyebrow, Euryblepharon, Ectropi... |
OMIM:616788 |
Crouzon Disease |
|
Conjunctivitis, Narrow palate, Ptosis, Iris coloboma |
ORPHA:207 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Tube feeding, Villous atrophy, Vomiting, Chronic diarrhea, Pulmonar... |
OMIM:619510 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Chronic activ... |
OMIM:240300 |
Carcinoid Syndrome |
|
Nausea and vomiting, Small intestine carcinoid, Protracted diarrhea, Hepatic necrosis, Episodic a... |
ORPHA:100093 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Extrapulmonary sequest... |
OMIM:200995 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Weight loss, Abnormal liver sonography, Neoplasm of the l... |
ORPHA:90003 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Xerostomia, Pleuritis, Splenomegaly, Gastritis, Gastrointestinal hemorrhage, Prolon... |
ORPHA:809 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Chronic mucocutaneo... |
ORPHA:36913 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis |
OMIM:618969 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondrial DNA in liver... |
OMIM:251880 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... |
OMIM:618641 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Corneal erosion, Weight loss, Intestinal perforation, Pancreatitis, Malabsorption, Acu... |
ORPHA:537 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... |
OMIM:300755 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... |
ORPHA:2494 |
Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Malabsorption, Skin rash, Recurrent respira... |
ORPHA:33355 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Ectropion |
OMIM:242500 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Portal hypertension, Hepatic fibrosis, Esophageal varix |
OMIM:616589 |
Warburg-Cinotti Syndrome |
|
Decreased corneal thickness, Narrow palpebral fissure, High palate, Cholesteatoma, Symblepharon, ... |
OMIM:618175 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Periportal fibrosis |
OMIM:213010 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Ectropion |
OMIM:242510 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia |
OMIM:618093 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, In... |
ORPHA:330001 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Elevated circulating aspartate aminotr... |
OMIM:619481 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Anorexia, Constipation, Vomiting, Nausea, Hematemesis, Weight loss, Insulinoma, N... |
ORPHA:652 |
Hepatocellular Carcinoma |
|
Portal hypertension, Hepatomegaly, Anorexia, Esophageal varix, Hemobilia, Abdominal distention, H... |
ORPHA:88673 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... |
ORPHA:44890 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Polycystic ovaries, Ectopic anus |
ORPHA:1643 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Episcleritis, Arthritis, Lymphoma, Uveitis, Inflammatory abnormality of the eye, Sk... |
ORPHA:36412 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, External genital hypoplasia, Rectal atresia, Anal atresia |
OMIM:613390 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Chronic hepatitis, Hepatitis, Primary adrenal insufficiency, Chronic mucocutaneous candidiasis, C... |
OMIM:269200 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hypertension, Nephritis, Epistaxis, Chemosis, Elevated circulating alanine aminotra... |
OMIM:614034 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Infectious encephalitis, Abnormal gastric mu... |
ORPHA:779 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage, Retinal arteriolar occlusion, Microcornea, Retin... |
OMIM:193220 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Subpleural interstitial thickening, Bronchiectasis, Failure to thrive, Weight loss,... |
ORPHA:79128 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Intralobular ... |
OMIM:610913 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Failure to thrive, Hemolytic-uremic syndrome, Pulmonary hemorrh... |
OMIM:619644 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, High palate, Rectal prolapse, Ptosis, Sparse lateral eyebrow, Telecanthus, M... |
ORPHA:235 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, High palate, Ptosis, Epicanthus, Gastroesophageal reflux |
OMIM:618186 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... |
OMIM:619281 |
Transketolase Deficiency |
|
Secondary amenorrhea, Hepatomegaly, Seborrheic dermatitis, Uveitis, Cataract, Conjunctivitis |
ORPHA:488618 |
Blue Rubber Bleb Nevus |
|
Gastrointestinal infarctions, Volvulus, Prolonged bleeding time, Skin rash, Intestinal bleeding, ... |
ORPHA:1059 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Cleft palate, Ectropion, Upslanted palpebral fissure, Ankyloblepharon, Absen... |
OMIM:263650 |
Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh... |
ORPHA:160148 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis |
ORPHA:466794 |
Microsporidiosis |
|
Sinusitis, Cholangitis, Myocarditis, Abnormality of the endometrium, Hepatitis, Abdominal pain, B... |
ORPHA:2552 |
Whipple Disease |
|
Myocarditis, Hepatomegaly, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, P... |
ORPHA:3452 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Pulmonary fibrosis |
OMIM:614743 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the lens, Anal atresia, Cataract, Cryptorchidism, Hypoplasia o... |
ORPHA:1381 |
Bronchogenic Cyst |
|
Dysphagia, Pneumonia, Bronchogenic cyst, Abnormality of the peritoneum, Abnormal stomach morpholo... |
ORPHA:2357 |
Ichthyosis, Congenital, Autosomal Recessive 4A |
|
Ectropion |
OMIM:601277 |
Prognathism, Mandibular |
|
Ectropion of lower eyelids |
OMIM:176700 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Failure to thri... |
OMIM:276700 |
22Q11.2 Deletion Syndrome |
|
Cleft palate, Chronic otitis media, Telecanthus, Gastrointestinal hemorrhage, Retinal arteriolar ... |
ORPHA:567 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Hamartoma of the orbital region, Telecanthus, Sparse eyebrow, Lacrimal pu... |
ORPHA:2399 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gas... |
ORPHA:37042 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... |
OMIM:607361 |
Bathing Suit Ichthyosis |
|
Ectropion, Erythroderma, Hypohidrosis |
ORPHA:100976 |
Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Aspergillosis |
|
Pneumonia, Bronchiectasis, Pleuritis, Hepatitis, Hypersensitivity pneumonitis, Pulmonary fibrosis... |
ORPHA:1163 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Palpitations, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Cirrhosis, Familial |
|
Abdominal distention, Micronodular cirrhosis, Esophageal varix, Jaundice |
OMIM:215600 |
Cdags Syndrome |
|
Cleft palate, Sparse eyelashes, Ectropion, Ptosis, Rectovaginal fistula, Anal atresia, Rectoureth... |
OMIM:603116 |
Jacobsen Syndrome |
|
Pyloric stenosis, Eczema, Duodenal atresia, Ectropion, Eyelid coloboma, Ptosis, Ectopic anus, Abn... |
ORPHA:2308 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Gastrointestinal infarctions, Petechiae, Arthritis, Abn... |
ORPHA:91138 |
Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple small medullary rena... |
OMIM:216360 |
Mcdonough Syndrome |
|
Cachexia, Ptosis, Short palpebral fissure, Cryptorchidism, Synophrys |
ORPHA:2471 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Reduced sperm motility, Hepatic cysts, Decreased glomerular filtration rate, Re... |
ORPHA:730 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... |
ORPHA:75234 |
Trichothiodystrophy |
|
Keratoconjunctivitis sicca, High, narrow palate, Developmental cataract, Eczema, Ectropion, Epica... |
ORPHA:33364 |
Relapsing Polychondritis |
|
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... |
ORPHA:728 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Congenital pyloric atresia, Ectropion, Recurrent skin infections, P... |
ORPHA:79403 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Weight loss, Abnormal lung morphology, Abnormal pleura morphology, Pleur... |
ORPHA:50251 |
Hadziselimovic Syndrome |
|
High palate, Ptosis, Failure to thrive, Epicanthus, Anal atresia, Pulmonary artery atresia |
OMIM:612946 |
Scedosporiosis |
|
Abnormal jejunum morphology, Pneumonia, Pleuritis, Pleural empyema, Pulmonary fibrosis, Abnormal ... |
ORPHA:449280 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Cleft palate, Ptosis, Brushfield spots, Telecanthus, Iris ... |
ORPHA:1791 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Recurrent aspiration pneumonia, Urinary retention, Pu... |
ORPHA:79124 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Hypohidrosis, Microcornea |
ORPHA:1806 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Hem... |
ORPHA:91495 |
Prune Belly Syndrome |
|
Aplasia/Hypoplasia of the lungs, Congenital posterior urethral valve, Failure to thrive, Volvulus... |
ORPHA:2970 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Ectropion, Hypohidrosis |
OMIM:242100 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Aganglionic megacolon, Ptosis, Ileus, Constipation |
ORPHA:52503 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Large vessel vasculitis, Uveitis, Scleritis, Infla... |
ORPHA:1467 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Chronic bronchitis, Helicobacter pylori infection, Recurren... |
OMIM:618131 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... |
OMIM:615630 |
Lamellar Ichthyosis |
|
Chronic otitis media, Aplasia/Hypoplasia of the eyebrow, Erythroderma, Ectropion |
ORPHA:313 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Failure to thrive, Conjugated hyperbilirubinemia, Elevated hepatic transamin... |
OMIM:619484 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Meckel Syndrome, Type 6 |
|
Cleft palate, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease, Pulmon... |
OMIM:612284 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor... |
ORPHA:79240 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Acholic stools, Weight loss, Pancreatiti... |
ORPHA:65682 |
Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Abnormality of the spleen, Abnormal intestine morphology, Aplasia/Hypoplasia of t... |
ORPHA:1834 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Developmental cataract, Uveitis, Male hypogonadism, Conjunctivitis |
ORPHA:90322 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Arthritis, Skin rash, Elevate... |
OMIM:617591 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis... |
ORPHA:186 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Angular cheilitis, Keratitis, Posterior blepharitis, Cataract |
OMIM:619016 |
Trypsinogen Deficiency |
|
Failure to thrive, Hypoproteinemia, Anal atresia |
OMIM:614044 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Ectropion |
ORPHA:2269 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... |
ORPHA:93108 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... |
OMIM:604387 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Lagopthalmos, Impaired oral bolus formation, Smal... |
ORPHA:404454 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension |
OMIM:617068 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Hepatomegaly, Feeding difficulties in infancy, Megarectum, Small for gestational age... |
OMIM:301056 |
Distal Trisomy 15Q |
|
High palate, Ptosis, Downslanted palpebral fissures, Anal atresia, Cryptorchidism, Blepharophimos... |
ORPHA:1707 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ectropion, Ocular albinism, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:2719 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Broad eyebrow, Failure to thrive in infancy, Bronchiectasis, Corneal scarring, Chronic diarrhea, ... |
OMIM:301220 |
Kabuki Syndrome 2 |
|
Highly arched eyebrow, Cleft palate, High palate, Sparse lateral eyebrow, Recurrent otitis media,... |
OMIM:300867 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegal... |
OMIM:618999 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, High palate, Pulmonary fibrosis, Overweight |
ORPHA:457240 |
Braddock Syndrome |
|
Failure to thrive, Pulmonary fibrosis, Unilateral renal agenesis |
ORPHA:52047 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Tuberculosis |
|
Weight loss, Abnormal lung morphology |
ORPHA:3389 |
Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Seborrhoeic blepharitis, Increased fecal coproporphyrin 1, Ectropion, Incre... |
ORPHA:79277 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Highly arched eyebrow, Aganglionic megacolon, Cleft palate, Feeding difficulties, Upslanted palpe... |
OMIM:239300 |
Felty Syndrome |
|
Hepatomegaly, Weight loss, Pleuritis, Splenomegaly, Recurrent urinary tract infections, Recurrent... |
ORPHA:47612 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Anal atresia, Tracheoesophageal fistula, Enlarged kidney |
OMIM:314390 |
Eales Disease |
|
Epistaxis, Iris neovascularization, Peripheral retinal neovascularization, Anterior uveitis, Reti... |
ORPHA:40923 |
Feingold Syndrome 2 |
|
Intestinal atresia, Postnatal growth retardation, Short stature |
OMIM:614326 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels |
OMIM:248510 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum zinc, Esophagiti... |
ORPHA:541423 |
Exudative Vitreoretinopathy 1 |
|
Retinal neovascularization, Subcapsular cataract, Vitreous hemorrhage, Peripheral retinal avascul... |
OMIM:133780 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Ectropion |
OMIM:242300 |
Non-Syndromic Posterior Hypospadias |
|
Ventral shortening of foreskin, Cleft palate, Bifid scrotum, Small for gestational age, Esophagea... |
ORPHA:95706 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Vitreous hemorrhage, Peripheral retinal avascularization |
OMIM:601813 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Chronic diarrhea, Esophageal stricture, Urethral stricture, Pulmonary fibrosis |
OMIM:613989 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Immunodeficiency 47 |
|
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... |
OMIM:300972 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex |
|
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... |
OMIM:260480 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Telangiectasia, Erythroderma, Small for gestational age, Basal cell c... |
OMIM:601675 |
Leprechaunism |
|
Hepatomegaly, Megarectum, Rectal prolapse, Long penis, Failure to thrive, Enlarged ovaries, Abdom... |
ORPHA:508 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... |
ORPHA:171 |
Postaxial Acrofacial Dysostosis |
|
Ectropion of lower eyelids, Eyelid coloboma, Cleft palate, Downslanted palpebral fissures |
ORPHA:246 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... |
OMIM:307200 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Dysphagia, Pulmonary fibrosis, Bronchiolitis |
ORPHA:254361 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Feeding difficulties in infancy, Hepatic fibrosis, Vomiting, Nephrotic syndrome, Pr... |
OMIM:212065 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Respiratory tract infecti... |
ORPHA:60033 |
Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Petechiae, Prolonged prothrombin time, Odynophagia, Excessive bleeding af... |
ORPHA:99826 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho... |
OMIM:606003 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Blepharitis |
OMIM:614328 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Feeding difficulties, Weight loss, Splenomegaly, Cataract, Jau... |
ORPHA:79238 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Antisynthetase Syndrome |
|
Keratoconjunctivitis sicca, Myocarditis, Dysphagia, Myositis, Xerostomia, Aortic regurgitation, P... |
ORPHA:81 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Bronchiectasis, Interlobular septal thickening, Peribr... |
ORPHA:79126 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ... |
ORPHA:911 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Jejunal... |
OMIM:615710 |
Systemic Sclerosis |
|
Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett ... |
ORPHA:90291 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Cleft palate, Ankyloblepharon, Absent eyelashes, Lacrimal duct atresia, Anhidro... |
OMIM:106260 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Midshaft hypospadias, Downslanted palpebral fissures, Long eyelashes, Anal atresia, ... |
ORPHA:2863 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:301068 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Anal atresia |
OMIM:274265 |
Leptospirosis |
|
Conjunctival hyperemia, Hepatomegaly, Pericarditis, Retinal hemorrhage, Elevated serum transamina... |
ORPHA:509 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Failure to thrive, Epicanthu... |
OMIM:614576 |
Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca, Hypertension, Dysphagia, Ptosis, Chronic otitis media, Xer... |
ORPHA:178478 |
Bartsocas-Papas Syndrome 2 |
|
Bilateral cleft lip and palate, Popliteal pterygium, Ankyloblepharon, Antecubital pterygium, Corn... |
OMIM:619339 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
Distal Monosomy 10P |
|
Cleft palate, Ectopic anus, Polycystic ovaries, Downslanted palpebral fissures, Anal atresia, Cry... |
ORPHA:1580 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... |
ORPHA:324964 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Displacement of the urethral meatus, Obesity, Hypoplasia of penis, R... |
ORPHA:2377 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Feeding difficulties, Cachexia |
ORPHA:157973 |
Avian Influenza |
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Infectious encephalitis, Pneumonia, Hepatitis, Spontaneous abortion, Increased circulating lactat... |
ORPHA:454836 |
Agel Amyloidosis |
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Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Xerostomia, Bil... |
ORPHA:85448 |
Intrinsic Factor Deficiency |
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Absence of intrinsic factor, Malabsorption |
OMIM:261000 |
Cataract-Microcornea Syndrome |
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Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Failure to thrive in infancy, Cachexia, Ptosis, Feeding difficulties, Epicanthus, Downslanted pal... |
OMIM:616801 |
Gastrocutaneous Syndrome |
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Upslanted palpebral fissure, Hiatus hernia, Peptic ulcer, Synophrys |
ORPHA:2069 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Feeding difficulties in infancy |
OMIM:231530 |
Trichothiodystrophy 4, Nonphotosensitive |
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Keratoconjunctivitis sicca, Sparse eyelashes, Epicanthus, Microcornea, Decreased fertility |
OMIM:234050 |
46,Xx Gonadal Dysgenesis |
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Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Pulmonar... |
ORPHA:243 |
Interstitial Pneumonitis, Desquamative, Familial |
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Desquamative interstitial pneumonitis, Failure to thrive, Tubulointerstitial fibrosis, Recurrent ... |
OMIM:263000 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... |
OMIM:167730 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Intestinal obstruction, Uveitis, Vascu... |
ORPHA:32960 |
Eosinophilic Gastroenteritis |
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Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... |
ORPHA:2070 |
Cockayne Syndrome Type 1 |
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Hepatomegaly, Hypertension, Failure to thrive, Male hypogonadism, Uveitis, Cataract, Hypohidrosis... |
ORPHA:90321 |
Cat-Eye Syndrome |
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Iris coloboma, Downslanted palpebral fissures, Anal atresia |
ORPHA:195 |
Laryngeal Neuroendocrine Tumor |
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Oral-pharyngeal dysphagia, Weight loss, Anorexia |
ORPHA:100083 |
Amoebic Keratitis |
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Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Hepatomegaly, Hepatic calcification, Feeding difficulties in infancy, High palate, Ureteral dupli... |
OMIM:608836 |
Vitreoretinopathy, Neovascular Inflammatory |
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Posterior retinal neovascularization, Uveitis, Peripheral retinal neovascularization, Vitreous he... |
OMIM:193235 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
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Ectropion, Erythroderma, Hypohidrosis |
OMIM:612281 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Vomiting, Nausea, Hepatic steatosis, Pachygyria, Pulmonary hypoplasia, Hepatic peri... |
OMIM:231680 |
Holocarboxylase Synthetase Deficiency |
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Weight loss, Eczema, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
Crouzon Syndrome |
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Dysgerminoma, Keratitis, Shallow orbits, Conjunctivitis |
OMIM:123500 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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