Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Cysteine Peptiduria |
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Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration |
OMIM:219550 |
Sarcosinemia |
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Hypersarcosinemia |
OMIM:268900 |
Schizophrenia 4 |
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Hyperprolinemia |
OMIM:600850 |
Maple Syrup Urine Disease, Mild Variant |
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Hyperleucinemia, Hyperisoleucinemia |
OMIM:615135 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Sotos syndrome |
|
Mandibular prognathia, Tall stature |
DECIPHER:17 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Micrognath... |
OMIM:301045 |
Aredyld Syndrome |
|
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Cachexia, Abnormality of the... |
ORPHA:1133 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... |
OMIM:619750 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... |
OMIM:618913 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
Immunodeficiency 104 |
|
Recurrent otitis media, Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chro... |
OMIM:608971 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Immunodeficiency 61 |
|
Arthritis, Recurrent sinusitis, Agammaglobulinemia, Colon cancer, Recurrent otitis media, Obesity... |
OMIM:300310 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Craniofacial hyperostosis,... |
ORPHA:61 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Everted lower lip vermilion, Short philtrum, Truncal obesity, Mandibular prognathia, ... |
ORPHA:2429 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
High palate, High, narrow palate, Disproportionate tall stature, Renal insufficiency, Glomerulone... |
OMIM:248760 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
High palate, Hepatomegaly, Splenomegaly, Retrognathia, Recurrent pneumonia, Mandibular prognathia |
OMIM:615637 |
Permanent Molars, Secondary Retention Of |
|
Abnormality of the dentition, Mandibular prognathia |
OMIM:157950 |
Autosomal Dominant Prognathism |
|
Mandibular prognathia, Everted lower lip vermilion, Open bite |
ORPHA:2964 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
High palate, Chronic kidney disease, Disproportionate tall stature, Glomerulonephritis, Mandibula... |
ORPHA:2172 |
Bazex Syndrome |
|
Lung adenocarcinoma, Neoplasm, Liposarcoma, Anemia, Lip hyperpigmentation |
ORPHA:166113 |
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Dental crowding, Mandibular prognathia, Atopic dermatitis, Obesity |
OMIM:606772 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival overgrowth, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:2027 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... |
ORPHA:158057 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly, Median cleft palate, Recurrent respiratory infections |
ORPHA:2432 |
Chromosome Xq25 Duplication Syndrome |
|
Thick vermilion border, Mandibular prognathia, Malar flattening, Tall stature |
OMIM:300979 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... |
ORPHA:2325 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Widely spaced teeth, Mandibular prognathia, Large for gestational age |
OMIM:616116 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
Pyle Disease |
|
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... |
OMIM:265900 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Malar prominence, Micrognathia, Hepatic steatosis |
ORPHA:436182 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils |
ORPHA:293964 |
Aredyld |
|
Mandibular prognathia |
OMIM:207780 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Recurrent otitis media, Recurrent skin infections, Retrognathia, Recurrent upp... |
ORPHA:391372 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Median cleft palate, Respiratory infections in early life |
OMIM:248110 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Mental Retardation Syndrome, Belgian Type |
|
Mandibular prognathia, Eunuchoid habitus |
OMIM:249599 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... |
OMIM:240500 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Mandibular pro... |
ORPHA:397973 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis |
ORPHA:2026 |
Maxillofacial Dysostosis |
|
Mandibular prognathia |
OMIM:155000 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Intrahepatic biliary atresia, Hy... |
OMIM:249630 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... |
OMIM:300853 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Birth length greater than 97th percentile, Overgrowth, Tall stature |
OMIM:618786 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, T... |
ORPHA:181393 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Phenobarbital Embryopathy |
|
Hypospadias, Unilateral cleft lip, Mandibular prognathia, Malar flattening |
ORPHA:1919 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Hypokalemia, Adrenocortical carcinoma, Increased body weight, Weight loss, A... |
ORPHA:1501 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Thick lower lip vermilion |
OMIM:309545 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Absent isohemagglutinin leve... |
OMIM:615559 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, P... |
OMIM:269840 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... |
ORPHA:2302 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Decreased body weight, Hepatomegaly, Persistence of primar... |
OMIM:618342 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
High palate, Mandibular prognathia, Open bite |
ORPHA:168624 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Trismus-Pseudocamptodactyly Syndrome |
|
Mandibular prognathia |
ORPHA:3377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... |
OMIM:619048 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... |
ORPHA:890 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatomegaly, Macroglossia, Proportionate tall stature, Cirrhosis, Increased C... |
ORPHA:528 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... |
ORPHA:2791 |
Mcdonough Syndrome |
|
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog... |
ORPHA:2471 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Mandibular prognathia, Dental malocclusion, Pointed chin |
OMIM:618292 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thromboc... |
ORPHA:905 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Oral cleft |
ORPHA:3434 |
Xq25 Microduplication Syndrome |
|
Thick vermilion border, Mandibular prognathia, Malar flattening |
ORPHA:521258 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Tall statur... |
ORPHA:2849 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... |
ORPHA:86893 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:616278 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence... |
OMIM:259710 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy, Esophageal carcinoma, Barrett esophagus |
ORPHA:99976 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Barrett esophagus, Obesity, Weight loss, Lymphadenopathy |
ORPHA:70482 |
48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal... |
ORPHA:10 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Slender build, Tall stature, Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Neoplasm, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tooth malposition, Micropenis, Abnormality of dental morphology, Obesity |
ORPHA:85274 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Increased circulating IgE level, Mandibular prognathia, Abnormality of the d... |
ORPHA:1858 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... |
OMIM:133180 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Mandibular prognathia, Long philtrum |
OMIM:616269 |
Leukodystrophy, Hypomyelinating, 17 |
|
Thick vermilion border, Mandibular prognathia, Gingival overgrowth, Widely spaced teeth |
OMIM:618006 |
Sclerosteosis 2 |
|
Mandibular prognathia |
OMIM:614305 |
Laron Syndrome |
|
Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Mic... |
ORPHA:633 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:619386 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Hydronephrosis, Hepat... |
OMIM:617093 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia, Mandibular prognathia |
OMIM:619971 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia, He... |
OMIM:606069 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Mandibular prognathia |
OMIM:619031 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
Cog7-Cdg |
|
Failure to thrive, Narrow mouth, Hepatomegaly, Small for gestational age, Retrognathia, Micrognat... |
ORPHA:79333 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Short philtrum, Decreased circulating antibody level, Cleft palate |
ORPHA:85317 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Hepatomegaly, Malar flattening, Elevated circulating creatine kinase concentra... |
OMIM:614727 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Torus palatinus, Craniofacial hyperostosis |
ORPHA:2790 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Mandibular prognathia, Thin upper lip vermilion, Obesity, Broad chin, Smooth philtrum |
OMIM:301013 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Wide mouth, Everted lower lip vermilion, Retrognathia, Long philtrum, Mandibular prognathia, Thin... |
OMIM:619595 |
Potocki-Lupski Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Small for gestational age, Micro... |
OMIM:610883 |
Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Wide mouth, Short philtrum, Mandibular prognathia |
OMIM:612936 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Increased body weig... |
OMIM:182290 |
Ramon Syndrome |
|
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dent... |
ORPHA:3019 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... |
ORPHA:733 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Cockayne Syndrome Type 2 |
|
Anodontia, Widely spaced primary teeth, Hepatomegaly, Hypoplasia of the primary teeth, Conjunctiv... |
ORPHA:90322 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Wide mouth, Obesity, Mandibular prognathia |
ORPHA:411515 |
Familial Adenomatous Polyposis 1 |
|
Hepatoblastoma, Adrenocortical adenoma, Carious teeth, Odontoma, Small intestine carcinoid, Adren... |
OMIM:175100 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Craniofacial osteosclerosis |
OMIM:122860 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Small for gestational age |
ORPHA:93950 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos... |
OMIM:613490 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Delayed eruption of teeth, Increased body weight, Anemia |
OMIM:614450 |
Dental Anomalies And Short Stature |
|
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Narrow palate |
OMIM:617169 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Pancytopenia, Hepatic steatosis |
OMIM:617872 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Malar flattening, Bilateral cleft lip and palate, Lar... |
OMIM:601165 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
High palate, Mandibular prognathia, Dental malocclusion |
OMIM:608931 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Tall chin |
ORPHA:137831 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology |
ORPHA:2180 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Increased body ... |
ORPHA:264580 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... |
ORPHA:766 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... |
OMIM:308240 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia |
ORPHA:3416 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... |
ORPHA:79665 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn... |
ORPHA:1248 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Abnormality of the ureter, Short philtr... |
ORPHA:819 |
48,Xxxy Syndrome |
|
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal... |
ORPHA:96263 |
Raynaud-Claes Syndrome |
|
Mandibular prognathia |
OMIM:300114 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Tooth agenesis, Microretrognathia, Cleft palate, Micrognathia, Truncal obesity, Cari... |
OMIM:618363 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... |
OMIM:230350 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Mandibular prog... |
OMIM:619040 |
Pettigrew Syndrome |
|
Thick vermilion border, Wide mouth, Mandibular prognathia |
OMIM:304340 |
Immunodeficiency 64 |
|
Failure to thrive, B-cell lymphoma, Decreased circulating IgG level, Increased circulating IgA le... |
OMIM:618534 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Cutaneous abscess, Decreased circulating IgA level, Persistence of primary teeth, Su... |
OMIM:619752 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Short philtrum, Delayed eruption of tee... |
ORPHA:137834 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Malar flattening, Short philtrum, Downturned corners of mouth, Mandibular prognathia |
ORPHA:94066 |
Macrocephaly-Developmental Delay Syndrome |
|
High palate, Microretrognathia, Hepatosplenomegaly, Recurrent pneumonia, Mandibular prognathia |
ORPHA:397612 |
Steatocystoma Multiplex With Natal Teeth |
|
Steatocystoma multiplex, Natal tooth |
OMIM:184510 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
Acromegaloid Facial Appearance Syndrome |
|
Thick vermilion border, Micrognathia, Large for gestational age, Deep philtrum |
OMIM:102150 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Micropenis, Everted low... |
OMIM:610253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Wide mouth, Macroglossia, Micropenis, Hypospadias, Mandibular prognathia, Thic... |
OMIM:300354 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening |
OMIM:600991 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Retrognathia, Open mouth, Obesity, Enuresis, Failure to thrive in infancy |
OMIM:613670 |
Schaaf-Yang Syndrome |
|
Micropenis, Retrognathia, Open mouth, Mandibular prognathia, Abnormality of the philtrum, Obesity... |
OMIM:615547 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate tall stature, Neuroendocrine neoplasm, Myeloid leukemia, Deep philtrum, Mandibular ... |
ORPHA:404443 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Lymphoma, Dysgammaglobulinemia, Anemia, Ascites, Lympha... |
ORPHA:100025 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
OMIM:300861 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Gingival overgrowth, Polyuria, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Mandibular prognathia, Pointed chin |
OMIM:248000 |
Temple Syndrome |
|
High palate, Recurrent otitis media, Cleft palate, Small for gestational age, Micrognathia, Short... |
OMIM:616222 |
Beckwith-Wiedemann Syndrome |
|
Wide mouth, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall s... |
ORPHA:116 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Pituitary Gigantism |
|
Pituitary growth hormone cell adenoma, Tall stature, Proportionate tall stature, Left ventricular... |
ORPHA:99725 |
Renpenning Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Malar flattening, Hypospadias, Short philtrum, C... |
ORPHA:3242 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... |
ORPHA:79303 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Porphyrinuria, Recurrent bacterial skin infections,... |
ORPHA:101330 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, El... |
OMIM:613011 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Malar flattening, Obesity, Mandibular prognathia |
OMIM:614613 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Anodontia, Failure to thrive, Hepatomegaly, Hypoplasia of the primar... |
ORPHA:90321 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Cutaneous abscess, Eczematoid dermatitis, Persistence of primary teeth, Skin rash, E... |
OMIM:147060 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular ... |
ORPHA:370 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Failure to thrive, Methioninuria, Pancreatitis, Tall stature, Disproportionate tall ... |
OMIM:236200 |
Dpm1-Cdg |
|
U-Shaped upper lip vermilion, Failure to thrive, Hepatomegaly, High, narrow palate, Micrognathia,... |
ORPHA:79322 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Pfapa Syndrome |
|
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, In... |
ORPHA:42642 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... |
ORPHA:369 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Dental malocclusion, Neoplasm, Fragile teeth, Hypodontia, Micropenis, S... |
ORPHA:2959 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... |
OMIM:212140 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum... |
OMIM:264475 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Malar flattening, Micrognathia, Multiple exostoses, Nephroblastoma, Proteinuria, Dental crowding,... |
OMIM:612469 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Cleft palate, Unilateral renal agenesis, Micrognathia, Short philt... |
OMIM:608572 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Long philtrum, Decreased circulating antibody level, Obe... |
OMIM:605309 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Renal cyst, Renal insufficiency, Recurrent otitis media, Obesity, Recurrent respir... |
OMIM:615993 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Narrow mouth, Hepatomegaly, Micrognathia, Elevated hepatic transaminase, Hypertriglyceridemia, De... |
OMIM:615381 |
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma |
|
Mandibular prognathia, Tall stature |
OMIM:102100 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Abnormality of the dentition, De... |
OMIM:203800 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Hypodontia, Decreased circulating total IgM, Delayed eruption of... |
OMIM:300636 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin... |
ORPHA:364028 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I... |
ORPHA:37748 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... |
ORPHA:1327 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Proteus Syndrome |
|
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Open mouth, Mandibular hyperost... |
OMIM:176920 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Felty Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, ... |
ORPHA:47612 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Oral cleft, Mandibular prognathia, Widely-spaced maxillary central... |
OMIM:601349 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin... |
OMIM:618963 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Renovascular hypertension, Hypercholesterolemia, Mandibular prognathia, Overweight, Broad chin |
ORPHA:401923 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hypertriglyceridemia, Hepat... |
ORPHA:2348 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Macroglossia, Micropenis, Everted lower lip vermilion, Hypospadias, Malar fl... |
ORPHA:261494 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short philtrum, Decreased body weight, Hypoplasia of the maxilla |
ORPHA:93945 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Abnormalit... |
ORPHA:93111 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Protein... |
ORPHA:79259 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Pde4D Haploinsufficiency Syndrome |
|
Malar flattening, Hypospadias, Short philtrum, Micrognathia, Long philtrum, Hypoplasia of the max... |
ORPHA:439822 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth |
OMIM:613849 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... |
ORPHA:2521 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Micrognathia, Chronic hepatitis, ... |
OMIM:614921 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Sotos Syndrome |
|
High palate, Narrow palate, High, narrow palate, Tall stature, Otitis media, Increased body weigh... |
OMIM:117550 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Narrow mouth, Hypoplasia of penis, Splenomegaly, Thin vermilion border, Hypospadias, Abnormality ... |
ORPHA:1046 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Hepatomegaly |
ORPHA:2398 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level... |
OMIM:300400 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... |
ORPHA:1414 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo... |
ORPHA:137605 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... |
OMIM:615438 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, Hy... |
OMIM:619013 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth |
OMIM:601957 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:255120 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system,... |
ORPHA:83469 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Abnormal lymp... |
ORPHA:2584 |
Luscan-Lumish Syndrome |
|
Malar flattening, Overgrowth, Pointed chin, Recurrent otitis media, Mandibular prognathia, Obesity |
OMIM:616831 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, High palate, Failure to thrive, Decreased body weight, Micropenis, Micrognathia, ... |
OMIM:300534 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, Mandibular prognathia, Recurrent upper respiratory tract infections, Truncal obesity |
ORPHA:284180 |
Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Elevated circulating creatine kinase concentration, Delayed eruption of teeth, Decreased ... |
OMIM:272300 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Sp... |
ORPHA:507 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
Short Stature, Dauber-Argente Type |
|
Short chin, Delayed eruption of teeth, Increased insulin like growth factor binding protein acid ... |
OMIM:619489 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Malar flattening, Thin vermilion border, Elevated circulating creat... |
OMIM:232400 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... |
ORPHA:221 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Mandibular prognathia, Stage 5 chronic kidney disease, Glomerula... |
OMIM:617731 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... |
OMIM:300209 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Overgrowth, Acne, Increased body weight, Obesity |
ORPHA:759 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Delayed eruption of teeth |
OMIM:612463 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Thick lower lip vermilion |
OMIM:615828 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... |
OMIM:256810 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Midshaft hypospadias, Micrognathia, Delayed eruption of teeth, Broad... |
ORPHA:2863 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Micrognathia, Hepatomegaly, Splenomegaly |
OMIM:608540 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Hepatomegaly, Recurrent upper respiratory tract infections, Grayish enamel, Carious t... |
OMIM:253010 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... |
OMIM:201475 |
Gorlin Syndrome |
|
Mandibular prognathia, Neoplasm, Carious teeth |
ORPHA:377 |
Achalasia-Microcephaly Syndrome |
|
Micrognathia, Mandibular prognathia |
ORPHA:929 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Chilblains,... |
OMIM:619487 |
Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Wide mouth, Hepatomegaly, Recurrent upper respiratory tra... |
OMIM:253000 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Hypodontia, Splenomegaly, Oligodontia, Cholestasis, Portal hypertension, Jaundice, ... |
ORPHA:59303 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... |
OMIM:619418 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum |
OMIM:618732 |
15Q Overgrowth Syndrome |
|
High palate, Microretrognathia, High, narrow palate, Malar flattening, Disproportionate tall stat... |
ORPHA:314585 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Hepatic steatosis, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth |
ORPHA:1816 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Failure to thrive, Eczema, Long philtrum, Overgrowth, Mandibular prognathia |
OMIM:619721 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice |
ORPHA:79238 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Hypospadias, Branchial cyst, Thin upper lip vermilion, Dental crowding, Mandibular prognathia, Pu... |
ORPHA:435938 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Malar flattening, Small for ges... |
OMIM:210900 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated circulating cre... |
OMIM:500009 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Micropenis, Micrognathia, Recurrent upper respiratory tract infections, Mandib... |
ORPHA:261534 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Fibroadenoma of the breast... |
ORPHA:189439 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Small for gestational age, Advanced eruption of teeth, Long penis, Mandibular progna... |
OMIM:262190 |
Cleidocranial Dysplasia |
|
Abnormal dental enamel morphology, Sinusitis, Supernumerary tooth, High, narrow palate, Cleft pal... |
ORPHA:1452 |
Mcdonough Syndrome |
|
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular prognathia |
OMIM:248950 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocyt... |
OMIM:230900 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
High palate, Lipoma, Micrognathia, Long philtrum, Chronic otitis media, Pointed chin, Obesity, Th... |
ORPHA:480907 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth |
OMIM:300143 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... |
OMIM:619644 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Weight lo... |
ORPHA:391 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
High palate, Failure to thrive, Short philtrum, Long philtrum, Tented upper lip vermilion, Mandib... |
OMIM:620001 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Eosinophilia, Large for gestational age |
OMIM:248100 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Mulibrey Nanism |
|
Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Recurrent lower respiratory tract ... |
OMIM:253250 |
Dermoodontodysplasia |
|
Mandibular prognathia, Tooth agenesis, Microdontia |
ORPHA:1660 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Wide mouth, Thin upper lip vermilion, Smooth philtrum, Mandibular prognathia |
OMIM:619989 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Eczema, Aplastic anemia, Delayed eruption of tee... |
ORPHA:811 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevate... |
OMIM:608594 |
Proteus-Like Syndrome |
|
Exostoses, Splenomegaly, Open bite, Hemangioma, Thymus hyperplasia, Subcutaneous lipoma, Mandibul... |
ORPHA:2969 |
Zechi-Ceide Syndrome |
|
Cleft palate, Thin vermilion border, Short philtrum, Oligodontia, Downturned corners of mouth, Cl... |
ORPHA:217017 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Mandibular prognathia, Abnormal zygomatic bone morphology, Malar flattening |
ORPHA:2511 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... |
OMIM:269920 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Chronic otitis media, Otitis media |
ORPHA:908 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Hemangioma, Micrognathia, Ele... |
OMIM:608799 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circ... |
OMIM:618495 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Auto... |
OMIM:619375 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:607271 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Nephrotic range proteinuria, Macroscopic hematuria, Decreased specific pneumococcal... |
OMIM:613496 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
High palate, Mandibular prognathia, Conical tooth |
OMIM:617773 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, P... |
ORPHA:169090 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ... |
OMIM:603463 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Aplastic anemia, Delayed eruption of teeth, Microdontia, Carious te... |
ORPHA:2909 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Ac... |
OMIM:269700 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
ORPHA:158061 |
Christianson Syndrome |
|
Mandibular prognathia, Cachexia |
ORPHA:85278 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypospadias, Mandibular prognathia |
ORPHA:2252 |
Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... |
OMIM:613070 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphoproliferative disorder, Pneumonia, Jaundice, Decreased proportion of naive T ... |
ORPHA:276 |
Coffin-Siris Syndrome 10 |
|
Wide mouth, Persistence of primary teeth |
OMIM:618506 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619658 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... |
ORPHA:545 |
Prolidase Deficiency |
|
High palate, Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly,... |
OMIM:170100 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... |
OMIM:614700 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Neuroendocrine neoplasm, R... |
ORPHA:189427 |
Classic Multiminicore Myopathy |
|
High palate, Failure to thrive, Microretrognathia, Right ventricular hypertrophy, Mandibular prog... |
ORPHA:324604 |
Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Premature loss of teeth, Gingival overgrowth, Narrow palate, Hepatomegaly, Long upper ... |
ORPHA:99843 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Mannosidosis, Alpha B, Lysosomal |
|
Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Malar flat... |
OMIM:248500 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Dental malocclusion, Cleft palate, Long philtrum, Failure to thrive in infancy, Uret... |
OMIM:618975 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Downturned corners of mouth, Mandibular prognathia, Short philtrum, Malar flattening |
OMIM:618672 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, High palate, Supernumerary tooth, Small for gestational age, Micrognathia, Agen... |
OMIM:268400 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Tall stature, Long phil... |
ORPHA:2563 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
High, narrow palate, Everted lower lip vermilion, Short philtrum, Long philtrum, Thick vermilion ... |
OMIM:619880 |
3Q27.3 Microdeletion Syndrome |
|
Narrow mouth, Disproportionate tall stature, Short philtrum, Dental crowding, Mandibular prognath... |
ORPHA:397695 |
Noonan Syndrome 5 |
|
Thick vermilion border, Wide mouth, Large for gestational age, Mandibular prognathia |
OMIM:611553 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue, Obesity, Mandibular prognathia |
ORPHA:411511 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Lymphopenia, Increased circulating IgA level, Eclabion, Carious teeth, Abdomin... |
OMIM:616395 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... |
ORPHA:209919 |
Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
49,Xxxxy Syndrome |
|
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Del... |
ORPHA:96264 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
X-Linked Non-Syndromic Intellectual Disability |
|
Small for gestational age, Urinary incontinence, Long philtrum, Delayed eruption of teeth, Obesit... |
ORPHA:777 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Medulloblastoma, Premature eruption of permanent teeth, Odontogenic keratocysts o... |
ORPHA:199276 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall stature, Mandibular prognathia, Poly... |
ORPHA:373 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand... |
OMIM:105830 |
Gm1 Gangliosidosis |
|
Failure to thrive, Narrow mouth, Gingival overgrowth, Macroglossia, Splenomegaly, Aspiration pneu... |
ORPHA:354 |
Bardet-Biedl Syndrome 21 |
|
Hypodontia, Abnormality of the dentition, Elevated hepatic transaminase, Horseshoe kidney, Obesit... |
OMIM:617406 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Wide mouth, Widely spaced primary teeth, Micropenis, Decreased circulating antibody level, Mandib... |
OMIM:300953 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:617388 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E... |
ORPHA:228305 |
Prognathism, Mandibular |
|
Mandibular prognathia, Thick lower lip vermilion |
OMIM:176700 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Zimmermann-Laband Syndrome 1 |
|
Nephrolithiasis, High palate, Wide mouth, Gingival overgrowth, Hepatomegaly, Splenomegaly, Short ... |
OMIM:135500 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Adenomatous colonic polyposis, High palate, Thick upper lip vermilion, Narrow mouth, Hepatoblasto... |
ORPHA:261584 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Recurrent bronchopulmonary infections, Splenomegaly,... |
OMIM:617303 |
Hennekam Syndrome |
|
Lymphangioma, Short philtrum, Delayed eruption of teeth, Horseshoe kidney, Tooth agenesis, Spleno... |
ORPHA:2136 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia |
OMIM:617183 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
High palate, Failure to thrive, Micrognathia, Facial hemangioma, Obesity, Polysplenia |
OMIM:610543 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... |
OMIM:601847 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Failure to thrive, Narrow mouth, Pursed lips, Malar flattening, Small for gestationa... |
OMIM:193700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Absence of lymph node germinal center, Decreased circulating IgE, Decreased circula... |
OMIM:308230 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... |
ORPHA:228308 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... |
OMIM:615486 |
Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia |
ORPHA:627 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Hypodontia, Cleft palate, Thin vermilion border, Hypospadias, Long philtrum, Obes... |
ORPHA:254346 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Micrognathia, Hepatomegaly, Jaundice, Cholestasis |
OMIM:614887 |
Pycnodysostosis |
|
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... |
ORPHA:763 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Cleft palate, Skin rash, Abnormality of the dentition, Eosinophilia, Eczema, Delay... |
ORPHA:2314 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Abno... |
ORPHA:3162 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... |
OMIM:618622 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Lymphoma, Acute pancreatitis, ... |
ORPHA:79086 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Wide mouth, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned co... |
OMIM:619720 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Cleft palate, Everted lower lip vermilion, Hypospadias, Microdontia, Delayed eruptio... |
OMIM:619736 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Obesity, Lo... |
OMIM:612462 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob... |
ORPHA:73272 |
Paganini-Miozzo Syndrome |
|
Thin vermilion border, Mandibular prognathia, Downturned corners of mouth, Urinary incontinence |
OMIM:301025 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Micrognathia, Microdontia, Biliary tract abnormality, A... |
ORPHA:3191 |
Three M Syndrome 1 |
|
Malar flattening, Small for gestational age, Hypospadias, Long philtrum, Pointed chin, Mandibular... |
OMIM:273750 |
Hemochromatosis, Type 2A |
|