Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
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 |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... |
ORPHA:174 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low... |
ORPHA:93356 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Clubbing of toes, Gastroesophag... |
ORPHA:2198 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst |
OMIM:167800 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Hypoplastic ... |
OMIM:608728 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ... |
OMIM:600785 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, High pala... |
OMIM:147891 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... |
ORPHA:440354 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis |
OMIM:145001 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Cach Syndrome |
|
Optic neuritis, Hepatosplenomegaly, Pancreatitis |
ORPHA:135 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Weismann-Netter Syndrome |
|
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Microscopic Polyangiitis |
|
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... |
ORPHA:727 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... |
OMIM:618935 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Acetabular s... |
OMIM:613091 |
Legionnaires Disease |
|
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... |
ORPHA:549 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Eczematoid dermatitis |
OMIM:606054 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Pericarditis |
ORPHA:188 |
Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... |
ORPHA:2552 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly |
ORPHA:79083 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Iridocyclitis, Pancreatitis |
ORPHA:412057 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis |
OMIM:248600 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis |
OMIM:251000 |
Acute Lung Injury |
|
Pneumonia, Acute pancreatitis |
ORPHA:178320 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Optic disc coloboma, Short finger, Flared metaphysis, Femoral bo... |
OMIM:608940 |
Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Tibial bow... |
OMIM:211350 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... |
OMIM:223800 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Hepatic steatosis |
OMIM:236200 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja... |
ORPHA:521219 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M... |
ORPHA:499009 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... |
ORPHA:480520 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... |
OMIM:219700 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension... |
ORPHA:171 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... |
ORPHA:444490 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:247585 |
Oculopalatocerebral Syndrome |
|
Cleft palate, Remnants of the hyaloid vascular system |
OMIM:257910 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepat... |
OMIM:232220 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis |
ORPHA:1830 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy... |
OMIM:619487 |
Zygomycosis |
|
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... |
ORPHA:73263 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Hepatitis, C... |
ORPHA:562 |
Dysbetalipoproteinemia |
|
Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis |
ORPHA:412 |
Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Abnormality... |
ORPHA:228123 |
Peripheral Primitive Neuroectodermal Tumor |
|
Jaundice, Pancreatitis, Neoplasm of the pancreas |
ORPHA:370348 |
Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn... |
ORPHA:449395 |
Behçet Disease |
|
Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp... |
ORPHA:117 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
Familial Mediterranean Fever |
|
Erysipelas, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthrit... |
ORPHA:342 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:600740 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Gout, Hepatic steatosis, Increased hepatic gl... |
ORPHA:79259 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma |
OMIM:232200 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... |
OMIM:618019 |
Acquired Generalized Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis |
ORPHA:79086 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hepatic periportal necrosis |
ORPHA:26791 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Small hand, Retinal detachment, Remnants of the hyaloid vascular system, Sho... |
ORPHA:2714 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:280365 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing |
ORPHA:85165 |
Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis |
ORPHA:449427 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Hepatosplenomegaly,... |
ORPHA:3260 |
Pauci-Immune Glomerulonephritis |
|
Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... |
ORPHA:93126 |
Granulomatosis With Polyangiitis |
|
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... |
ORPHA:900 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly, Recurren... |
OMIM:618268 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:617253 |
Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes |
ORPHA:20 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cholangitis, Thyroiditis, Retroperiton... |
ORPHA:449563 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly |
ORPHA:565612 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst |
OMIM:620371 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, Hypothyroidism, Pancreatiti... |
ORPHA:733 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, St... |
OMIM:232240 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
Melas |
|
Hypoparathyroidism, Recurrent pancreatitis, Hypothyroidism |
ORPHA:550 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis |
ORPHA:544482 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Adducted thumb, Remnants of the hyaloid vascular system, Retinal dysplasia, O... |
OMIM:614643 |
Lysinuric Protein Intolerance |
|
Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, H... |
ORPHA:470 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:222700 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism |
ORPHA:99880 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Splenomegaly, Chronic pancreatitis, Hepatic steatosis |
OMIM:610717 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... |
ORPHA:99827 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism |
ORPHA:143 |
Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
Marburg Hemorrhagic Fever |
|
Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Jaundice, Maculopapular exanthema, Pericar... |
ORPHA:99826 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
Atelis Syndrome 2 |
|
High palate, Gastroesophageal reflux, Clinodactyly, Remnants of the hyaloid vascular system |
OMIM:620185 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis |
OMIM:608594 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis |
ORPHA:98908 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis |
OMIM:269700 |
Scorpion Envenomation |
|
Myocarditis, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Hand clenching, Bifid uvula, Sandal gap, Broad hallux, Submucous cl... |
OMIM:300166 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Yellow Fever |
|
Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
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 1 |
|
Short uvula, Prominent fingertip pads, Tibial torsion, Ankyloglossia, Submucous cleft hard palate... |
OMIM:619539 |
Pierson Syndrome |
|
Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:609049 |
Full Nf2-Related Schwannomatosis |
|
Dysphagia, Remnants of the hyaloid vascular system |
ORPHA:637 |
Alström Syndrome |
|
Hepatic fibrosis, Recurrent pneumonia, Hepatitis, Decreased response to growth hormone stimulatio... |
ORPHA:64 |
Holoprosencephaly 2 |
|
Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Remnants o... |
OMIM:157170 |
Norrie Disease |
|
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:649 |