Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... |
ORPHA:2198 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... |
ORPHA:69663 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... |
OMIM:600785 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Weismann-Netter Syndrome |
|
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... |
OMIM:618935 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Pneumonia |
ORPHA:70578 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Metaphyseal spurs, Postaxial... |
OMIM:613091 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Pancreatitis |
OMIM:606054 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... |
ORPHA:2552 |
Maple Syrup Urine Disease |
|
Pancreatitis |
OMIM:248600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... |
OMIM:232220 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis |
ORPHA:247585 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... |
ORPHA:171 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio... |
OMIM:619487 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism |
ORPHA:412 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis |
ORPHA:370348 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis |
ORPHA:26791 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis,... |
ORPHA:79259 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma |
OMIM:232200 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Small hand, Cle... |
ORPHA:2714 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... |
ORPHA:449395 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... |
ORPHA:3260 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Lipid accumulation in hepatocytes, Jaundice |
ORPHA:20 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Thyroiditis, Prostatitis, ... |
ORPHA:449563 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Melas |
|
Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis |
ORPHA:550 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... |
ORPHA:470 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:143 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard... |
ORPHA:99827 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Arthritis, Pancrea... |
ORPHA:99826 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... |
OMIM:276820 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Gastroesophageal reflux, Clinodactyly, High palate |
OMIM:620185 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:608594 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:269700 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis |
ORPHA:98908 |
Scorpion Envenomation |
|
Myocarditis, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Broad hallux, Sandal gap, Remnants of the hyaloid vascular system, 2-3 toe cu... |
OMIM:300166 |
Yellow Fever |
|
Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice |
ORPHA:99829 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis |
OMIM:606721 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Remnants of the hyaloid vascular system, Tapered finger,... |
OMIM:619539 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Dysphagia |
ORPHA:637 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage |
OMIM:609049 |
Alström Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... |
ORPHA:64 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... |
OMIM:157170 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy |
ORPHA:649 |