Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Immunodeficiency 27A |
|
Fever, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Anorexia, Splenom... |
OMIM:209950 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemo... |
OMIM:616050 |
Immunodeficiency 32B |
|
Fever, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenome... |
OMIM:226990 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Alpha-Heavy Chain Disease |
|
Fever, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, ... |
ORPHA:100025 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Failure to thrive in infancy... |
OMIM:618805 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... |
ORPHA:172 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... |
ORPHA:182050 |
Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
Cln3 Disease |
|
Blindness, Cataract, Ataxia, Aggressive behavior, Amblyopia, Vacuolated lymphocytes, Increased ci... |
ORPHA:228346 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circ... |
OMIM:617872 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Pericardial effusion, Weight loss, Intestin... |
ORPHA:90362 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Pancytopenia, Decreased circul... |
OMIM:619924 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:268 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno... |
ORPHA:1667 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception... |
ORPHA:14 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased s... |
OMIM:241600 |
Drug-Induced Lupus Erythematosus |
|
Fever, Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating crea... |
ORPHA:231111 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... |
ORPHA:85443 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... |
ORPHA:93323 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Metaphyseal widening, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic s... |
OMIM:617303 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, Lymphadenopa... |
OMIM:603553 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Thrombocytop... |
ORPHA:47 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Fetal ascites, Pericard... |
ORPHA:292 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Abnormality of the kidney, Giant pl... |
OMIM:155100 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... |
ORPHA:275555 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre... |
ORPHA:94093 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Tachypnea, Leukopenia, 3-Methylglutaric aciduria, Lethargy, Hepatomegaly, Ketonu... |
ORPHA:20 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Abnormally large globe, Renal salt wasting, Nephroc... |
OMIM:241200 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Apnea, E... |
OMIM:619048 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, A... |
ORPHA:175 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ... |
OMIM:618048 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Tremor, Dysmetria, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia... |
OMIM:212065 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy... |
ORPHA:99826 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Blindness, Craniosyno... |
OMIM:259700 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext... |
OMIM:617021 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Anorexia, Thrombocytopenia, Sp... |
ORPHA:79312 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Abnormality... |
ORPHA:210110 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch... |
OMIM:608104 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Ventric... |
ORPHA:36913 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu... |
ORPHA:95717 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... |
OMIM:603278 |
Diffuse Alveolar Hemorrhage |
|
Fever, Respiratory failure requiring assisted ventilation, Decreased circulating complement C4 co... |
ORPHA:90060 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infecti... |
ORPHA:98813 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... |
ORPHA:84064 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypocalcemia, Short tibia, Micropenis, Decreased circulating IgG level, Pat... |
OMIM:607143 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase c... |
OMIM:614727 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Severely reduced visual acuity, Hepatom... |
OMIM:259720 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... |
ORPHA:90051 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Abnormal bone ossification, Hypochole... |
ORPHA:79324 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut... |
OMIM:169400 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Tachypnea, I... |
ORPHA:36234 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Abnormal ovarian physiology, Premature ... |
ORPHA:90794 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hypothyroidism... |
OMIM:619487 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Hypothermia, Cardiomegaly, Hypothyro... |
OMIM:601005 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
Malaria |
|
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Anemia, Gait ... |
ORPHA:673 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Impaired vibration sensation in the lower limbs, Developmental cata... |
ORPHA:447753 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Atrial septal defect, Decrease... |
ORPHA:505248 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Blindness, Generalized osteosclerosis, Visual impairment, Genu val... |
ORPHA:53 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... |
OMIM:613101 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Hypothyroidism, Clubbing, Decreased circulating antibody level,... |
OMIM:226300 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Respiratory insufficiency, Bradycardia, Dystonia, Left ventricular hypertrophy, Hype... |
OMIM:614654 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Pedal edema, Ha... |
OMIM:277900 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... |
OMIM:607250 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hypothyro... |
OMIM:619013 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Hypoth... |
ORPHA:159 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ... |
ORPHA:95716 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Osteo... |
OMIM:612462 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shorten... |
ORPHA:79320 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitia... |
ORPHA:37042 |
Slc35A2-Cdg |
|
Osteopenia, Cerebral visual impairment, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:356961 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Tremor, Photophobia, Conjunctivitis, Male hypogonadism, Hepatomegaly, Abnormality o... |
ORPHA:90321 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Fever, Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, D... |
ORPHA:169154 |
Relapsing Fever |
|
Fever, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating ... |
ORPHA:91547 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal... |
OMIM:264700 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Lymphopeni... |
ORPHA:276 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Apnea, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart ... |
ORPHA:391673 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hypercellularit... |
OMIM:617575 |
Thrombotic Thrombocytopenic Purpura |
|
Fever, Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Hematur... |
ORPHA:54057 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypothermia, Dyspnea, Elevated urinary dopamine level, Ele... |
ORPHA:230 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Hepatomegaly, Generalized dystonia, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardi... |
OMIM:618235 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Steatorrhea, Wei... |
OMIM:212750 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Fever, Transient ischemic attack, Proteinuria, Myocardial ... |
OMIM:274150 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Bradykinesia, Impotence, Ga... |
ORPHA:93256 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenome... |
OMIM:603552 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Rhizomelia, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Squ... |
OMIM:611209 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... |
OMIM:619073 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Asthma, L... |
ORPHA:2070 |
Rhabdoid Tumor |
|
Fever, Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, L... |
ORPHA:69077 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... |
OMIM:208920 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Fever, Anemia of inadequate p... |
ORPHA:86839 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Diffuse hepatic steato... |
ORPHA:746 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:242900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Kn... |
OMIM:608836 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Areflexia of lower... |
OMIM:615883 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Thrombocytopenia, Respiratory insuf... |
ORPHA:27 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Micropenis, Decreased skull ossification, Slender long bone, Ascites... |
OMIM:602361 |
Boutonneuse Fever |
|
Fever, Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Vasculitis, ... |
ORPHA:83313 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Congestiv... |
ORPHA:367 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Chorea, Hype... |
ORPHA:289916 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Erl... |
OMIM:610539 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Somatic sensory dysfunction, Tremor, Leukocytosis, Absent patel... |
ORPHA:206594 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolyti... |
OMIM:235400 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Ob... |
ORPHA:79445 |
Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morpholog... |
ORPHA:67 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Cortical subperioste... |
ORPHA:94089 |
Mu-Heavy Chain Disease |
|
Fever, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, ... |
ORPHA:100024 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti... |
ORPHA:79282 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Cryptorchid... |
OMIM:618440 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulating IgG level, Hyp... |
ORPHA:2298 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Cranios... |
ORPHA:251004 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Apnea, Increased level of hippuric acid in urine, Thrombocy... |
OMIM:606054 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Hyp... |
OMIM:245400 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Bradycardia, Dysph... |
OMIM:620265 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
Babesiosis |
|
Fever, Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Anorexia, Cong... |
ORPHA:108 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Tremor, Gait disturbance, Arrhythmia, Abnormal pattern of respiration |
ORPHA:29822 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Lymphocytic inters... |
OMIM:618495 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... |
ORPHA:797 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ... |
ORPHA:358 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Rayna... |
OMIM:615934 |
Sengers Syndrome |
|
Osteopenia, Myopia, Premature ovarian insufficiency, Cataract, Cardiac arrest, Sudden cardiac dea... |
OMIM:212350 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Osteopenia, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat... |
OMIM:613327 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Hypothyroidism, Nephrotic syn... |
OMIM:618347 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Fever, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-r... |
ORPHA:247353 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Anorexia, Clubbing, Hematochezia, Hypokalemia, Clubbing of fingers, Paresthes... |
OMIM:175500 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, ... |
OMIM:614702 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia, Large for gestational age, Delayed epiphyseal ossification, El... |
ORPHA:226313 |
Hypophosphatasia, Infantile |
|
Fever, Elevated urine pyrophosphate, Apnea, Elevated plasma pyrophosphate, Hypercalcemia, Cranios... |
OMIM:241500 |
Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Cataract, Bilobate gallbladder, Increased mean pla... |
OMIM:607330 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin... |
ORPHA:171 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Respir... |
ORPHA:79327 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Short femur, Cardiomegaly, Cerebral visual impairm... |
OMIM:620306 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct... |
ORPHA:319213 |
Meningococcal Meningitis |
|
Shock, Fever, Neonatal respiratory distress, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:33475 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Br... |
OMIM:616299 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemo... |
ORPHA:848 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive seco... |
OMIM:608971 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Fever, Pneumonia, Conjunctival hyperemia, Throm... |
ORPHA:3392 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, L... |
ORPHA:31824 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ... |
OMIM:619991 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... |
ORPHA:89938 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Myopia, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, M... |
OMIM:614376 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet vol... |
OMIM:616737 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Acute leukemia, Pol... |
ORPHA:647 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... |
ORPHA:340 |
Genetic Recurrent Myoglobinuria |
|
Fever, Elevated hepatic transaminase, Renal insufficiency, Dark urine, Recurrent myoglobinuria, E... |
ORPHA:99845 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Griscelli Syndrome |
|
Fever, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal... |
ORPHA:381 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Cerebral visual impairment |
OMIM:614652 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Tremor, Decreased circulating IgA level, Decreased circ... |
OMIM:617744 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Chorea, Low plasma citrulline, Gait ataxia, Hyperventilation, Hepatomegaly, Ataxia, Dilate... |
ORPHA:255210 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormality of temperature regulation, Apnea, Abnormal pu... |
ORPHA:667 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Crackles, Portal hypertension, Nodular regenerative hyperplasia of... |
ORPHA:210136 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Absent Achilles reflex, Pollakisuria, Tip-toe gait, Urinary retention, Spastic g... |
ORPHA:447760 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Hypothermia, ... |
ORPHA:90674 |
Secondary Intestinal Lymphangiectasia |
|
Fever, Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulat... |
ORPHA:90363 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Elevated circulating creatinine concentration, H... |
OMIM:616733 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elev... |
ORPHA:439232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypothermia, Respiratory insufficiency, Respiratory failure, 3-Met... |
OMIM:618329 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea,... |
ORPHA:2432 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Hypoventilation, Abnormality of temperature regulation, Myopia, Hypotherm... |
OMIM:618493 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Nephrolithiasis, Genu valgu... |
ORPHA:93160 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Hypertriglyceridemia, Decrease... |
OMIM:619313 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Congenital h... |
OMIM:244460 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste... |
ORPHA:1304 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Cerebral visual impairment, Hypocalcem... |
ORPHA:544482 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Visual loss, G... |
ORPHA:329918 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... |
OMIM:235550 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Increased... |
ORPHA:443811 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Failure to thrive, Sinusitis, Absence of lymph node germinal center, Recurrent pneum... |
ORPHA:277 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... |
OMIM:208900 |
Systemic Lupus Erythematosus 17 |
|
Fever, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mit... |
OMIM:301080 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulat... |
OMIM:610377 |
Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Hyperthyroidism, Cryptorch... |
ORPHA:488632 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Tetanus |
|
Respiratory distress, Fever, Tachycardia, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:3299 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Dystonia, Hypertrophic cardio... |
OMIM:616277 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Atrial septal def... |
ORPHA:567 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Epiphyseal dysplasia, Cataract,... |
OMIM:617913 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Inappropriate absence of fever, Increased circ... |
OMIM:618944 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Micrognathia, Decre... |
OMIM:241410 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Leukopeni... |
OMIM:301056 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... |
ORPHA:37202 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... |
OMIM:127000 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Jaundice, Anemi... |
ORPHA:290 |
Cholera |
|
Hyponatremia, Fever, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion c... |
ORPHA:173 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Large vessel ... |
ORPHA:49041 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Micrognathia... |
OMIM:616730 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Dyspha... |
OMIM:616276 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Malignant hyperthermia, ... |
ORPHA:466650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Apnea, Cerebral visual impairment, Abnormality of vision, Aspi... |
ORPHA:438213 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady gait, ... |
OMIM:254900 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chroni... |
OMIM:251000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary emb... |
ORPHA:567548 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Fever, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eo... |
ORPHA:331206 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis, Abnormality of thrombocytes, Hypothermia |
ORPHA:90026 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Photophobia, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, ... |
ORPHA:411634 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,... |
ORPHA:84090 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,... |
OMIM:618183 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Atelis Syndrome 1 |
|
Cataract, Ventricular septal defect, Decreased lymphocyte proliferation in response to anti-CD3, ... |
OMIM:620184 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Low-grade fever, Lethargy, Has... |
ORPHA:199299 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Abnormally large globe, Splenomegaly, Post... |
ORPHA:1655 |
Acute Interstitial Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Non... |
ORPHA:79126 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Choreoathetosis, Hepatic steatosis, Patent foramen ovale, Hepatomega... |
ORPHA:17 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemi... |
ORPHA:89937 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short ... |
OMIM:601559 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Micrognathia, Microcytic anemia, T lymphocytopenia, Decreased serum estradiol, Microp... |
ORPHA:2959 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Developmental cataract, Mic... |
OMIM:618815 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular d... |
OMIM:608800 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Hypothermia |
OMIM:615026 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Po... |
OMIM:235255 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Cataract, Short toe, Osteoporosis, Obesity, Short metatarsal, Pseudohypoparathy... |
OMIM:103580 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Tapered finger, Micrognathia, Renal hypoplasia/aplasia, Hypocalcemia, Micro... |
ORPHA:1438 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys... |
OMIM:613658 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Dyspnea, Splenomegaly, Tach... |
OMIM:239200 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Renal insufficiency, Hypo... |
ORPHA:31826 |
Igg4-Related Aortitis |
|
Fever, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, A... |
ORPHA:449400 |
Refsum Disease |
|
Short metacarpal, Cataract, Ataxia, Renal insufficiency, Heart block, Abnormal foot morphology, S... |
ORPHA:773 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Tachypnea, Methylmalonic... |
OMIM:614857 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Respirat... |
ORPHA:436 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... |
OMIM:233270 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentrat... |
ORPHA:542323 |
Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increased... |
ORPHA:77259 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Hypocalcemia, Atrial septal def... |
ORPHA:163979 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Urinary incontinence, Positional foot deformity, Dysmetria, Enuresis noctur... |
ORPHA:171629 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Abnormal respiratory system physiology, Telangiectas... |
ORPHA:101028 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta... |
OMIM:619468 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Hypothermia, Goiter, Delayed proxi... |
ORPHA:90673 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double ... |
ORPHA:3426 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati... |
OMIM:618886 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Developmental cataract, Nephrocalcinosis, Short 5th finger,... |
ORPHA:557003 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... |
OMIM:617397 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Cataract, Diabetes mellitus, Abnormality of the thyroid gland, S... |
OMIM:609286 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Pericardial effusio... |
ORPHA:2136 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Micrognathia, Thr... |
ORPHA:2785 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Elevated hepatic transaminase, Myopia, Decreased circulating ceruloplasmin concentra... |
OMIM:242150 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Keratoconjunctivi... |
ORPHA:79242 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Pes planus, Elevated circulating creatine kinase concentration, Ab... |
ORPHA:88618 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Long... |
ORPHA:1617 |
Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplastic iliac wing,... |
OMIM:235510 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Con... |
ORPHA:49827 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Increase... |
OMIM:243700 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Fever, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone l... |
ORPHA:556037 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, Congenital nephrotic syndrome, Small ... |
OMIM:256300 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Patchy osteosclerosis, Micrognathia, Cr... |
ORPHA:2323 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Hy... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Hy... |
ORPHA:529799 |
Classic Galactosemia |
|
Reduced bone mineral density, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insuffi... |
ORPHA:79239 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Pediatric-Onset Graves Disease |
|
Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly,... |
ORPHA:525731 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Hypothermia, Metaphyseal wi... |
OMIM:309400 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Aplasia/H... |
ORPHA:79404 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Hypothermia, Cerebral visual impairment, Micrognathia, Bradycardia |
OMIM:614498 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog... |
ORPHA:79237 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating para... |
OMIM:603233 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Visual loss, Corneal erosion, Dilated cardiomyopathy, Dy... |
ORPHA:89842 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Atrial septal defect, Decreased ... |
OMIM:620005 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recu... |
OMIM:619824 |
Myopathy, Myofibrillar, 1 |
|
Hyporeflexia of lower limbs, Respiratory insufficiency due to muscle weakness, Dilated cardiomyop... |
OMIM:601419 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Cataract, Ataxia, Talipes, Abnormal limb bone morphology, Epiphyseal ... |
ORPHA:251009 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thriv... |
ORPHA:67048 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyse... |
OMIM:618476 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C... |
OMIM:602579 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Tachypnea, Reduced left ventricular e... |
OMIM:616501 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra... |
ORPHA:2238 |
Digeorge Syndrome |
|
Impaired T cell function, Sclerocornea, Micrognathia, Parathyroid hypoplasia, Abnormal thymus mor... |
OMIM:188400 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Aspiration pneumonia, Intention tremor, ... |
ORPHA:99027 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Hypothermia, Cerebral visual impairment |
OMIM:618557 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Visual loss, Weight l... |
ORPHA:3226 |
Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Lymphopenia, Ataxia, Allergic rhinitis, Abscess, E... |
OMIM:615816 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, ... |
OMIM:617591 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... |
OMIM:146200 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Paresthesia, Hypo... |
ORPHA:94090 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially duplicated kidney, Hemat... |
ORPHA:274 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Failure to th... |
OMIM:601457 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro... |
ORPHA:2123 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali... |
OMIM:249270 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Ventricular se... |
OMIM:620210 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Cataract, Ataxia, Proteinuria, Congestive heart failure, Hyp... |
ORPHA:225 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Hypocalcemia, Nephropat... |
ORPHA:1563 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia, Respiratory insufficiency |
ORPHA:1954 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Ketonuria, Ataxia, Anorexia, Leukocytosis, Tachypnea, Hyperammonemia, Weight... |
ORPHA:134 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Congenital Heart Block |
|
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... |
ORPHA:60041 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy, Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased... |
OMIM:300635 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Photophobia, Neutropenia, Abnormal natural killer cell morphology... |
ORPHA:167 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
Multifocal Atrial Tachycardia |
|
Effort-induced polymorphic ventricular tachycardia, Tachypnea, Abnormal left ventricular function... |
ORPHA:3282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnorma... |
OMIM:615838 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Increased circulating ferritin concentration, Elevated... |
OMIM:606069 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Nodular regenerative hype... |
ORPHA:247691 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Camptodactyly of finger, Hypogonadotropic hypogonadism, Micrognathia, Osteoporo... |
ORPHA:48431 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Tapered finger, Long fingers, Atrioventricular block, Bradycardia, Joint contracture of... |
OMIM:614407 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Myopia, Elevated circulating creatine kinase concentration, Inability to walk, Developmental cata... |
OMIM:613155 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Small for gestational age, Ataxia, Dy... |
OMIM:251300 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula... |
ORPHA:228123 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Fatigable... |
ORPHA:428 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Small for gestational age, Ataxia, Tremor, Microphthalmia, Pes cavus |
OMIM:278780 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Neonatal respiratory distress, Apnea, Micromelia, Hyperammonemia, Bradycardia, ... |
OMIM:610015 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator... |
OMIM:246700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Conjunctivitis, Decreased circulating IgG level, Hypothyroidism, Aut... |
OMIM:614700 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Hepatomegaly, Increase... |
ORPHA:355 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration pneumonia,... |
ORPHA:642 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Hepatomegaly... |
OMIM:218330 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Sudden cardiac death, Hypothermia, Tremor, Precocious pube... |
ORPHA:58 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hemophagocytic Syndrome Associated With An Infection |
|
Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Elevated hepatic transaminase, I... |
ORPHA:158048 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Stage 3 chronic kidney disease, Hyperparathyroidism, Cortical scl... |
OMIM:620366 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
Overlap Myositis |
|
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El... |
ORPHA:206572 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesi... |
OMIM:616267 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Blindness, Premature ovarian insufficiency, Renal insufficiency, P... |
OMIM:610965 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Somatic sensory dysfunction, Elevated circulating C-reactive prote... |
ORPHA:297 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Blindness, Cataract, Ataxia, Dilated cardiomyopathy, Renal hy... |
ORPHA:254913 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
Encephalitis Lethargica |
|
Fever, Urinary incontinence, Tremor, Diplopia, Photophobia, Increased circulating antibody level,... |
ORPHA:83600 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep... |
OMIM:301000 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th... |
OMIM:229050 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Ataxia, Cataract, Congenital hepatic fibrosis, Chronic kidney di... |
ORPHA:3156 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Epistaxis, Cerebral hemorrhage, Cardiorespirato... |
ORPHA:99828 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ... |
OMIM:159550 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Hypothermia, Cryptorchidism, Arrhythmia, Abnormal pattern of... |
ORPHA:168593 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... |
OMIM:618459 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Tricuspid regurgitation, Talipes, Micrognathia, Achilles tendon c... |
OMIM:620351 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Crackles, Dyspnea, Nonproductive co... |
ORPHA:2902 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c... |
OMIM:201475 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pancre... |
ORPHA:97289 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Reduced visual acuity, Visual impairment |
OMIM:616335 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo... |
OMIM:617053 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... |
OMIM:179800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirub... |
OMIM:619534 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Micrognathia, Respiratory insufficiency due to muscle weakness, Dilated c... |
ORPHA:171442 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Recu... |
OMIM:617718 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... |
OMIM:256550 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ... |
ORPHA:83471 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Micrognathia, Unilateral radial aplasia, Tremor, Aplasia of the 1st metacar... |
ORPHA:476126 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, T lymphocytopenia, ... |
OMIM:242840 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Visual loss, Unilateral microphthalmos, Anemia, Osteopetrosis, Failur... |
OMIM:615085 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Adams-Oliver Syndrome |
|
Leukopenia, Finger syndactyly, Portal hypertension, Congenital hepatic fibrosis, Split hand, Abse... |
ORPHA:974 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... |
ORPHA:487796 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Ataxia, Hydroureter, Diabetes mellitus, Megal... |
OMIM:222300 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Fever, Decreased circulating IgG level, Pneumonia, Eosinophilia, Anorexia, Recurrent pneumonia, H... |
ORPHA:169160 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp... |
OMIM:618108 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Schnitzler Syndrome |
|
Fever, Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymp... |
ORPHA:37748 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Waddling gait, Crumpled long bones, Corneal opacity, Moderately reduced visual acuity... |
ORPHA:2788 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal... |
ORPHA:905 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Opisthotonus, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulatin... |
ORPHA:508533 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Scotoma, Tachypnea, Hyperammonemia, Ankle clonus, Hepatic failure, Elevated ... |
ORPHA:247525 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemi... |
ORPHA:2494 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Craniosynostosis, Hypermetropia, Decreased circulating antibody level, Photophob... |
ORPHA:79396 |
Chediak-Higashi Syndrome |
|
Tremor, Photophobia, Leukopenia, Giant neutrophil granules, Neutropenia, Iris hypopigmentation, I... |
OMIM:214500 |
Q Fever |
|
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... |
ORPHA:781 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618261 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph... |
OMIM:260400 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... |
ORPHA:160 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Pedal edema, Renal cyst, Cough, Ataxia, Abnormal pericardium morpholo... |
ORPHA:284 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
Isolated Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, A... |
ORPHA:229717 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Respiratory distress, Elevated hepatic transaminase, 4-hydroxyphenylacetic acid... |
OMIM:617156 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia... |
OMIM:613179 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Micrognathia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus, Nephro... |
OMIM:208085 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Neutropenia, Chronic Familial |
|
Clubbing of fingers, Increased circulating antibody level, Clubbing, Neutropenia |
OMIM:162700 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia |
ORPHA:517 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea... |
OMIM:619705 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Hypergonadotropic hypogonadism, Constriction of peripheral visual field, Tremor... |
OMIM:614307 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Fever, Increased circulating interleukin 6 conce... |
ORPHA:178320 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Hyperi... |
OMIM:170100 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret... |
ORPHA:36426 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Cough, Pericardial effusion, Hepatosplenomegaly, ... |
ORPHA:464329 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Short long b... |
OMIM:619751 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Optic nerve hypoplasia, Tongue thrusting, Nonketotic hyperglycinem... |
OMIM:220120 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
Cataract 11, Multiple Types |
|
Blindness, Cataract, Chorea, Developmental cataract, Microphthalmia |
OMIM:610623 |
Paroxysmal Extreme Pain Disorder |
|
Impaired pain sensation, Tachycardia, Bradycardia, Rhinorrhea |
OMIM:167400 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal... |
ORPHA:86816 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly |
OMIM:300484 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Short foot, Pollakisuria... |
OMIM:227330 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Intermittent hypothermia, Oculogyric crisis, To... |
OMIM:608643 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Renal s... |
ORPHA:85138 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Biliary tract abnormality, Obesity, Respiratory insufficiency, Membranous subvalvul... |
ORPHA:3191 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Hyperlipid... |
ORPHA:567546 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Fever, Acute pancreatitis, Dyspnea, Hepatitis, Dysphagia, Melena, Le... |
ORPHA:319218 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff... |
OMIM:614299 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Myopia, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Respirator... |
OMIM:613153 |
Fanconi Anemia, Complementation Group I |
|
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone s... |
OMIM:609053 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Multiple muscular ventricular septal defects, Palmoplantar kerat... |
OMIM:615508 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, ... |
ORPHA:100 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Ataxia, Rhizomelia, Dystonia, Micrognathia, Tremor, Congestive he... |
OMIM:616271 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Atrial ... |
OMIM:619573 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Anorexia, Renal s... |
ORPHA:95409 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Osteoporosis, Cardiomyopathy, Azoosper... |
OMIM:235200 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, ... |
ORPHA:656 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Thrombocytopenia, Sple... |
ORPHA:47612 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Ketonuria, Elevated uri... |
OMIM:251100 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Apnea, Internally rotated shoulders, Fetal ascites, Micr... |
OMIM:619503 |
Poems Syndrome |
|
Sclerosis of hand bone, Polycythemia, Hypothyroidism, Sclerosis of foot bone, Pericardial effusio... |
ORPHA:2905 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo... |
OMIM:194350 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
High Altitude Pulmonary Edema |
|
Fever, Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, C... |
ORPHA:330012 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... |
ORPHA:263501 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Cli... |
OMIM:603585 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ... |
ORPHA:2668 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... |
ORPHA:811 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Tremor,... |
ORPHA:3095 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Primary Myelofibrosis |
|
Fever, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, A... |
ORPHA:824 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Decreased circulating fre... |
ORPHA:276575 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... |
OMIM:214800 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cataract, Ataxia, Small for gestational age, Thrombo... |
ORPHA:79325 |
Shigellosis |
|
Anorexia, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, Hyponatremia, Absc... |
ORPHA:810 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Bilateral micropht... |
ORPHA:93325 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Hip dislocation, Stage 5 ... |
OMIM:617729 |
Angiostrongyliasis |
|
Fever, Increased circulating IgA level, Diplopia, Hypereosinophilia, Increased circulating specif... |
ORPHA:74 |
Pierpont Syndrome |
|
Decreased body weight, Cryptorchidism, Short toe, Short foot, Deep plantar creases, Microcornea, ... |
OMIM:602342 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... |
OMIM:619510 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve mo... |
ORPHA:77261 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... |
ORPHA:397596 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Ketonuria, Thrombocytop... |
OMIM:251110 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Acute Promyelocytic Leukemia |
|
Fever, Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive c... |
ORPHA:520 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Conotruncal defect, H... |
ORPHA:2306 |
Fetal Parvovirus Syndrome |
|
Abnormality of vision, Anemia, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia |
ORPHA:295 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Decreased circulating IgG level, Apnea, Inap... |
ORPHA:79330 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... |
OMIM:312863 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Micrognathia, Cerebral visual impairment, Renal cyst, Nephrocalcinosis, Atrial septal... |
ORPHA:369837 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency, Common Variable, 7 |
|
Fever, Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, ... |
OMIM:614699 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Sinusitis, Eosinophilia, Elevated circulating C-reactive protein con... |
ORPHA:449427 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 22 |
|
Fever, Decreased circulating IgG level, Pericarditis, Abscess, Thrombocytopenia, Capillary leak, ... |
OMIM:615758 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... |
ORPHA:721 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Microphthalmia, I... |
OMIM:604219 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory distress, Atax... |
ORPHA:221139 |
Pediatric Systemic Lupus Erythematosus |
|
Fever, Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Dyspnea, Raynaud pheno... |
ORPHA:93552 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... |
ORPHA:398124 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Ataxia, Constriction of peripheral visual field, Nyctalopia, Elevated cir... |
ORPHA:772 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Syncop... |
ORPHA:276580 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost... |
OMIM:614732 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Cofs Syndrome |
|
Cataract, Camptodactyly of finger, Talipes, Micrognathia, Hypogonadism, Microphthalmia, Visual im... |
ORPHA:1466 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Hypoth... |
ORPHA:226316 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Cerebral visual impairment, Chronic kidney disease, Sta... |
OMIM:615244 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Recurre... |
ORPHA:217390 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,... |
OMIM:616740 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Mega... |
OMIM:277380 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:276556 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Apnea, Dystonia, Tremor, Jaundice, Dysphagia, Hypopnea, Respiratory failure, 3-Methylgl... |
OMIM:617248 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp... |
ORPHA:98849 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... |
OMIM:301045 |
Rift Valley Fever |
|
Fever, Elevated hepatic transaminase, Scotoma, Anorexia, Hematemesis, Jaundice, Periodic fever, R... |
ORPHA:319251 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of... |
OMIM:120330 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Fever, Tachycardia, Splenic rupture, Developmental cataract, Opisthoto... |
ORPHA:335 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hepatocellular carcinoma, Lethargy, Hypothyroidism, Hepatomegaly, Hypogonadotropic ... |
ORPHA:465508 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Abnormal long bone morphology, Neutropenia, Cough, Abnormalit... |
ORPHA:1163 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Pedal edema, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal ... |
OMIM:152800 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocyto... |
ORPHA:77293 |
Immunodeficiency 92 |
|
Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal... |
OMIM:616395 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopeni... |
OMIM:606003 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Tachypnea, Prominent ... |
ORPHA:466677 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Microphthalmia, Failure to thrive, Lethargy |
OMIM:274270 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, Abnormality of the liver,... |
ORPHA:464321 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... |
ORPHA:860 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Micrognathia, Microcornea, Talipes equinovarus, Microphthalmia, Visual impairment |
OMIM:616171 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational ag... |
ORPHA:324575 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach... |
OMIM:615160 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:66628 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Hypoxemia, Intracranial... |
ORPHA:284227 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein... |
ORPHA:60025 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Posterior embryotoxon, Ventricular septal defect, Talipes, Impaired T cell fu... |
OMIM:192430 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Micrognathia, Cryptorchidism, Osteoporosis, Developmental cataract, Microcornea,... |
OMIM:600118 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... |
ORPHA:45452 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:179494 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... |
ORPHA:137675 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b... |
ORPHA:324 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Decreased circulating total IgM, Abnormal epiphysis morphology, Neutropenia, Decreased ... |
ORPHA:2643 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Recurrent pneumoni... |
OMIM:617475 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Moebius Syndrome |
|
Respiratory distress, Micrognathia, Lower limb undergrowth, Micropenis, Short phalanx of finger, ... |
OMIM:157900 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Pmm2-Cdg |
|
Respiratory distress, Osteopenia, Elevated circulating thyroid-stimulating hormone concentration,... |
ORPHA:79318 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... |
ORPHA:64744 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellula... |
OMIM:619151 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy... |
OMIM:616414 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abnormal heart morphology, Hematochezia... |
ORPHA:79076 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Cerebral visual impairment, Tremor, Gait atax... |
ORPHA:254892 |
Zika Virus Disease |
|
Fever, Optic disc hypoplasia, Ankle swelling, Increased circulating IgM level, Conjunctivitis, Le... |
ORPHA:448237 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Blindness, Cataract, Nyctalopia, Reduced visual acuity, Photophobia, H... |
OMIM:204000 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory... |
OMIM:615767 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, Abnormal... |
ORPHA:333 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Sandal gap, Urinary incontinence, Small hand, Pineal cys... |
OMIM:618885 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Apnea, Splenomegaly, Visual loss, Tachypnea, Hyperammonemia, Organic acidur... |
OMIM:253260 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac... |
OMIM:612736 |
Lig4 Syndrome |
|
Pancytopenia, Plantar warts, Small for gestational age, Cryptorchidism, Asthma, Hypothyroidism, T... |
OMIM:606593 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Elevated hepatic transaminase, Cataract, Renal insufficiency, Sp... |
OMIM:251290 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Craniofacioskeletal Syndrome |
|
Pes planus, Absent gallbladder, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchid... |
OMIM:300712 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... |
OMIM:613496 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Abnormality of the urethra, Photophobia, Conjunctivi... |
ORPHA:537 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, P... |
OMIM:615846 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hyperphosphaturia, Hypercal... |
OMIM:156400 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia, Visua... |
ORPHA:3434 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal defect, Proximal placement of ... |
ORPHA:93267 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Fever, Hyperpyrexia, Neonatal respiratory distress, Tachycardia, Ventricular septal defect, Apnea... |
OMIM:614653 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Developmental cataract, Decreased testicular size, Thrombocytopenia, Adduct... |
OMIM:601815 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Cataract, Elevated circulating creatine kinase concentration, Congestive heart fai... |
ORPHA:52430 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of vision, Leu... |
ORPHA:84 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Small for gestational age, Rocker bottom foot, Micrognathia, Coxa valga, Cryptorchidism... |
OMIM:214150 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Atrial septal def... |
ORPHA:96334 |
Pierpont Syndrome |
|
Pes planus, Small for gestational age, Cryptorchidism, Short toe, Abnormality of the plantar skin... |
ORPHA:487825 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Micrognathia, Secundum atr... |
ORPHA:2257 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Clubbing of fingers, Decreased circulating IgG level |
OMIM:618973 |
Illum Syndrome |
|
Calcinosis, Temperature instability, Apnea, Bradycardia |
OMIM:208155 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Caffey Disease |
|
Fever, Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickenin... |
ORPHA:1310 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Diabetes mellitus, ... |
ORPHA:169105 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Aregenerative Anemia |
|
Fever, Pancytopenia, Fatigable weakness of skeletal muscles, Dyspnea, Erythroid hypoplasia, Retic... |
ORPHA:101096 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Dyspnea, Dilatation of the ventricular cavity, Hyperpepsino... |
OMIM:615745 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Ataxia, Dysesthesia, Unsteady gait, Elevated circulating phytanic acid concentration, L... |
OMIM:614877 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femo... |
OMIM:613990 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Thro... |
OMIM:603467 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Vipoma |
|
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla... |
ORPHA:97282 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity... |
OMIM:618116 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo... |
OMIM:612301 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Amblyopia, Tremor, Dysmetria, Cardiomyopathy... |
OMIM:617710 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Large central visual field defect, Apnea, Episodic tachypnea, Blindness, Visual loss... |
ORPHA:79264 |
Immunodeficiency 70 |
|
Plantar warts, Decreased circulating antibody level, Decreased circulating total IgA, Decreased c... |
OMIM:618969 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... |
OMIM:610978 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Autoi... |
ORPHA:391487 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... |
ORPHA:93126 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Immunodeficiency 60 And Autoimmunity |
|
Fever, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased cir... |
OMIM:618394 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Short fourth metatarsal, Ataxia, Cataract, Cardiomegaly, Congestive ... |
OMIM:266500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM ... |
OMIM:242860 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Myopia, Decreased circulating antibody level, Clinodactyly of the 5th finger, Lymphopenia, Hypopr... |
ORPHA:1116 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal... |
OMIM:277440 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... |
ORPHA:2041 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Micrognathia, Abnormal pupil morphology, Oligosacchariduria, ... |
ORPHA:534 |
Erdheim-Chester Disease |
|
Cough, Increased bone mineral density, Ataxia, Abnormal pericardium morphology, Hypogonadotropic ... |
ORPHA:35687 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
Hereditary Coproporphyria |
|
Hyponatremia, Fever, Tachycardia, Dark urine, Abnormal circulating porphyrin concentration, Respi... |
ORPHA:79273 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum... |
OMIM:619750 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... |
OMIM:242700 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr... |
OMIM:557000 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic a... |
OMIM:620076 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
Catastrophic Antiphospholipid Syndrome |
|
Amaurosis fugax, Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmona... |
ORPHA:464343 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal pheochromocytoma,... |
ORPHA:29072 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Blindness, Thrombocytopenia, Cranial hyperostosis, Di... |
OMIM:259710 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ... |
ORPHA:97292 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Apnea, Micrognathia, Metatarsus adductus... |
OMIM:214110 |
Pudendal Neuralgia |
|
Dyspareunia, Somatic sensory dysfunction, Dysuria, Pollakisuria, Impotence, Paresthesia |
ORPHA:60039 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Micro... |
OMIM:255800 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo... |
OMIM:609981 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Cataract, Ataxia, Small for gestational age, Dystonia, Hypospadias... |
OMIM:615471 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Low... |
ORPHA:50918 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral m... |
OMIM:613320 |
Goodpasture Syndrome |
|
Fever, Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopic h... |
OMIM:233450 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... |
ORPHA:73224 |
Martsolf Syndrome 1 |
|
Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Short phal... |
OMIM:212720 |
Rere-Related Neurodevelopmental Syndrome |
|
Myopia, Ventricular septal defect, Hypospadias, Micrognathia, Peters anomaly, Cryptorchidism, Cer... |
ORPHA:494344 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Hy... |
OMIM:230800 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Atelis Syndrome 2 |
|
Pes planus, Micrognathia, Dyspnea, Thrombocytopenia, Elevated circulating thyroid-stimulating hor... |
OMIM:620185 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, H... |
OMIM:304790 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Immunodeficiency 20 |
|
Wheezing, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural killer cell act... |
OMIM:615707 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphati... |
OMIM:616005 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Fa... |
OMIM:619272 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Le... |
OMIM:243500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Cerebral visual im... |
OMIM:619055 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Myopia, Increased bone mineral density, Cataract, Micrognathia, Coxa valga, Flat acetabular roof,... |
ORPHA:163649 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:616576 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Aspiration, Fai... |
OMIM:610768 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Asthma, Recurrent pneumonia, Increased circulating IgE level, Br... |
OMIM:619752 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Fever, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obst... |
ORPHA:60032 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Pneumocystosis |
|
Fever, Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproducti... |
ORPHA:723 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ataxia, Aplastic anemia, Dyspnea, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, I... |
OMIM:127550 |
Gamma-Heavy Chain Disease |
|
Fever, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thro... |
ORPHA:100026 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... |
OMIM:602450 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, Abnormal repetitive mannerisms, Nail-biting, Pain insensitivity, Hair-pulling, Opti... |
OMIM:620330 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Craniosynostosis, Keratitis, Increased circulating IgE level, Clubbing, Bronchiecta... |
OMIM:618523 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Chorea, Lymphopenia, Recurrent fever |
OMIM:616744 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Dysphagia, Atrial septal defect, Hyp... |
ORPHA:89844 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Microphthalmia, Isolated 5 |
|
Cataract, Nyctalopia, High hypermetropia, Reduced visual acuity, Photophobia, Microphthalmia |
OMIM:611040 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia |
OMIM:616570 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Cataract, Chorea, Right ventricular d... |
ORPHA:369840 |
Monosomy 13Q34 |
|
Pes planus, Metrorrhagia, Epistaxis, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Fet... |
ORPHA:96168 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Anemia, Osteopetrosi... |
OMIM:611490 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... |
OMIM:300310 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... |
ORPHA:3320 |
Fanconi Anemia, Complementation Group A |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short thumb, Cryptorchidism, An... |
OMIM:227650 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia |
OMIM:193670 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concent... |
OMIM:615181 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... |
ORPHA:3240 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Reduced visual acuity, Astigmatism, Axenfeld anomaly, Microphthalmia, Po... |
OMIM:609218 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Blindness, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropeni... |
OMIM:598500 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Down-sloping shoulders, Micrognathia, Amblyopia, Hypermetropia, Knee flexion contractur... |
OMIM:619694 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... |
ORPHA:99879 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Palmopla... |
OMIM:613989 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Aicardi-Goutieres Syndrome 1 |
|
Fever, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Diabetes insipidus, Splenomegaly, I... |
OMIM:225750 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Tachypnea, Compulsive behaviors, Hypoglutaminemia, Hepatomegaly, Ataxia, Elevat... |
ORPHA:3008 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... |
OMIM:241530 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Nephroblastoma, Polydactyly, Microphthalmia, Leukemia |
OMIM:602501 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Dysmetria, Micropenis, Hypothyroidism, Ataxia, Cryptorchidism, Dilated cardiomyop... |
OMIM:616541 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614495 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Myopia, Sandal gap, Atrial septal defect, Pulmonary arterial hypertensio... |
OMIM:300887 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Cataract,... |
ORPHA:508542 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Myopia, Visual impairment |
ORPHA:1574 |
Lymphoproliferative Syndrome 2 |
|
Fever, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosple... |
OMIM:615122 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac... |
OMIM:611560 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Am... |
OMIM:615605 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... |
OMIM:617099 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-in... |
OMIM:614074 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Tachypnea, Hyperammonemia, Organic aciduria, Leth... |
OMIM:253270 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614496 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Abnormality of T cell physiology, Renal insufficiency, Diabe... |
ORPHA:2237 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Hyperactivity, Restlessness, Ventricular septal defect, Ataxia, Myopia, Aggressive be... |
ORPHA:369891 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Cataract, Hypothyroidism, Pneumothorax, Renal... |
ORPHA:445038 |
Lissencephaly 8 |
|
Talipes equinovarus, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid... |
OMIM:275350 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow... |
ORPHA:730 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron... |
OMIM:619488 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Chor... |
ORPHA:765 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Microcytic anemia, Visual loss, Dysphagia, Microphthalmi... |
OMIM:612379 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona... |
OMIM:600901 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Spondylo-Ocular Syndrome |
|
Pes planus, Myopia, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Visual l... |
ORPHA:85194 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Cerebral visual impairment, Inability to walk, Thrombocytopenia, Failure to thrive, Visual impair... |
OMIM:616577 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Microphthalmia, Posterior embryotoxon, Iris coloboma, Visua... |
ORPHA:1473 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Nonproductive cough, Chorea, Leukopenia, Tubulointer... |
ORPHA:289390 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Akinesia, Micrognathia, Cardiomegaly, Thrombocytopenia... |
OMIM:608013 |
Mgat2-Cdg |
|
Respiratory distress, Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dec... |
ORPHA:79329 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachyp... |
ORPHA:71275 |
Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent... |
ORPHA:2686 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp... |
OMIM:211000 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine co... |
OMIM:154230 |
Juvenile Polyposis Syndrome |
|
Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Bohring-Opitz Syndrome |
|
Apnea, Nephroblastoma, Cardiomegaly, Micrognathia, Inability to walk, High myopia, Abnormal cardi... |
ORPHA:97297 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, High hypermetropia |
OMIM:251700 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ... |
OMIM:185070 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia, Opisthotonus |
OMIM:619814 |
Malignant Hyperthermia Of Anesthesia |
|
Fever, Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Myoglobinuria, T... |
ORPHA:423 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Myopia, Sandal gap, Impulsivity, Micrognathia, Aggressive behavior, Abnormal repetitive mannerism... |
OMIM:618914 |
Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Myopia, Calf muscle pseudohypertrophy, Cataract, Blindness, Optic nerve hypoplasia, Elevated circ... |
ORPHA:370959 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, ... |
OMIM:602668 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, A... |
ORPHA:3385 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Photophobia, Cough, Emphysema, Hepatomegaly, Pericardial e... |
OMIM:181000 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Myopia, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Reduced visual acuity... |
OMIM:152950 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Ventricular septal defect,... |
OMIM:227645 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Chilblain Lupus |
|
Raynaud phenomenon, Asthma, Chronic myelomonocytic leukemia, Finger swelling, Increased circulati... |
ORPHA:90280 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myopia, Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentratio... |
OMIM:253800 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Atrioventricular block, Reduced bone mineral density, Aspiration pneum... |
ORPHA:581 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia... |
OMIM:613730 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating... |
ORPHA:420741 |
Selective Igm Deficiency |
|
Lymphadenitis, Paraproteinemia, Decreased proportion of transitional B cells, Thyroid carcinoma, ... |
ORPHA:331235 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, Decreased circulating andr... |
ORPHA:90796 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypospadias,... |
ORPHA:464738 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Osteopenia, Pancytopenia, Cataract, Ataxia, Pneumonia, Corneal opacity, Myo... |
ORPHA:309288 |
Cockayne Syndrome |
|
Urinary incontinence, Photophobia, Progressive gait ataxia, Lentiglobus, Intention tremor, Hepato... |
ORPHA:191 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Micrognat... |
ORPHA:2260 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Leg dystonia, Ankle clonus, Tip-toe gait, Bradycardia, Loss of ambulation, Promin... |
ORPHA:565624 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cataract, Displacement of the urethral meatus, Cryptorch... |
ORPHA:3378 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ep... |
ORPHA:2872 |
Interstitial Lung Disease 2 |
|
Dyspnea, Clubbing of fingers, Increased circulating antibody level, Cirrhosis, Cough, Decreased D... |
OMIM:178500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Schwartz-Jampel Syndrome |
|
Apnea, Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, M... |
ORPHA:800 |
Temtamy Syndrome |
|
Aortic regurgitation, Pes planus, Myopia, Micrognathia, Lens luxation, Ectopia lentis, Hip disloc... |
OMIM:218340 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Methylmal... |
OMIM:614105 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Anorexia, Cough, Conjunctival hyperemi... |
ORPHA:509 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Respiratory... |
OMIM:615249 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Blindness, Ataxia, Retinal telangiectasia, Metaphyseal scle... |
OMIM:612199 |
Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Dysphagia, Choreoathetosis, Dystonia, Microphthalmia, Micropenis |
OMIM:308350 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Bone cyst, Osteolysis, Abnorm... |
ORPHA:2591 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Nanophthalmos |
|
Microphthalmia, High hypermetropia |
ORPHA:35612 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Photophobia, Aminoaciduria, Renal Fanconi syndro... |
OMIM:219800 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Fever, Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Th... |
ORPHA:83601 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Incre... |
ORPHA:3409 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Lethargy, Intrahep... |
OMIM:614866 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, ... |
OMIM:617925 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopen... |
ORPHA:79277 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Micropenis, Syndactyly, Myopia, Ataxia, Abnormality of the kidney, Nephrogenic ... |
OMIM:209900 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidism, Decrease... |
OMIM:616638 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Unilateral renal agenesis, ... |
OMIM:618494 |
Joubert Syndrome 9 |
|
Cataract, Apnea, Episodic tachypnea, Cerebral visual impairment, Stage 5 chronic kidney disease, ... |
OMIM:612285 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hepatomegaly, Cataract, Ataxia, Corneal opacity, Abnormali... |
ORPHA:93400 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar... |
OMIM:616435 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Blindness, Ataxia, Exaggerated startle response, Urinary i... |
OMIM:268800 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Tachypnea, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Micrognathia, Malignant hyperth... |
OMIM:614921 |
Tay-Sachs Disease |
|
Blindness, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Quadricep... |
ORPHA:845 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysgenesis, Iri... |
OMIM:610023 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Rocker bottom foot, Muscular ventricular septal defect, Developmental ... |
OMIM:618804 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Myopia, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Upper airway ob... |
OMIM:603671 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, High hypermetropia, Amblyopia |
OMIM:613517 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Visual impairment |
OMIM:613703 |
Dubowitz Syndrome |
|
Syndactyly, Pes planus, Hyperactivity, Aplastic anemia, Hypospadias, Micrognathia, Cryptorchidism... |
OMIM:223370 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, At... |
OMIM:243800 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Short Stature-Micrognathia Syndrome |
|
Myopia, Cataract, Ventricular septal defect, Ataxia, Rhizomelia, Micrognathia, Bowing of the legs... |
OMIM:617164 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,... |
ORPHA:263455 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Cataract, Ataxia, Small for gestational age, Hypospadias, Tremor, Cryptorchidi... |
OMIM:614052 |
Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph... |
OMIM:139090 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral visual impairment, Inability to walk, Self-injurious behavior, High nonceruloplasmin-bou... |
ORPHA:457351 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:258865 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Macroscopic hematuria, Elevated circulating creatinine concentratio... |
ORPHA:79233 |
Trichothiodystrophy |
|
Osteopenia, Gait ataxia, Microcornea, Photophobia, Conjunctivitis, Neutropenia, Intention tremor,... |
ORPHA:33364 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia, Overlapping finger... |
OMIM:615966 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Preaxial hand polydactyl... |
OMIM:263520 |
Acute Radiation Syndrome |
|
Fever, Cataract, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphop... |
ORPHA:454831 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Decreased response to growt... |
OMIM:619004 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ... |
OMIM:619005 |
Glucagonoma |
|
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... |
ORPHA:97280 |
16Q24.3 Microdeletion Syndrome |
|
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognat... |
ORPHA:261250 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutrope... |
ORPHA:124 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Hypothermia, Micrognath... |
ORPHA:565 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Pneumonia, Short iliac bones, Raynaud phenomenon, Metaphyseal sclerosis, M... |
OMIM:607944 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Hyperactivity, P... |
OMIM:251260 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... |
OMIM:617638 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Nanophthalmos 4 |
|
Microphthalmia, Reduced visual acuity, Hypermetropia |
OMIM:615972 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creat... |
ORPHA:79095 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Fi... |
ORPHA:959 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secund... |
OMIM:300855 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Cohen Syndrome |
|
Finger syndactyly, Myopia, Ventricular septal defect, Failure to thrive in infancy, Arachnodactyl... |
ORPHA:193 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Apnea, Micrognathia, Aggressive behavior, Cryptorchidism... |
OMIM:608093 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Ataxia, Thrombocytopenia, Goiter |
OMIM:274240 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Cockayne Syndrome B |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Microcornea, Square... |
OMIM:133540 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... |
OMIM:602080 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Bone marrow hy... |
OMIM:614520 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Fever, Neutrophilia, Genu recurvatum, Anorexia, Tremor, Opist... |
ORPHA:79139 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Hypogonadism, Delayed ... |
ORPHA:141333 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of th... |
ORPHA:169090 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Dyspnea, Achilles tendon contractur... |
OMIM:615418 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Bloom Syndrome |
|
Micrognathia, Decreased circulating IgG level, Decreased proportion of CD4-positive T cells, Male... |
ORPHA:125 |
Arima Syndrome |
|
Tachypnea, Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, He... |
OMIM:243910 |
Bloom Syndrome |
|
Syndactyly, Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Decreased fert... |
OMIM:210900 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent pneumonia, Increased circulating IgE level,... |
OMIM:147060 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Oroticaciduria, Tachyp... |
ORPHA:415 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Emph... |
OMIM:620365 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... |
ORPHA:293978 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Shallow anterior chamber, Mic... |
OMIM:267760 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Chorea, Panhypopituitarism, Iris co... |
ORPHA:2162 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Ataxia, Corne... |
ORPHA:1764 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Parathyroid Carcinoma |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Megaloblastic anemia, D... |
ORPHA:90045 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Ataxia, Corneal opacity, Abnormality of the kidney, Visual loss, Dysmetri... |
ORPHA:93399 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Temtamy Syndrome |
|
Pes planus, Brachydactyly, Micrognathia, Short toe, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1777 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Hepatic fa... |
ORPHA:49566 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni... |
ORPHA:1988 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Micrognathia, Aminoaciduria, Loss of ambulation, Ulnar deviation of the hand ... |
OMIM:214100 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Myopia, Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Cry... |
ORPHA:404440 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Renal insufficiency, Apnea, Ataxia, Tachypnea, Hand polydactyly, Foot polydactyly, Nep... |
ORPHA:2318 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Abnormality of vision, Microphthalmia, Iris coloboma |
OMIM:611638 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Talipes, Micrognathia, Intrahepatic ... |
ORPHA:46059 |
Frontonasal Dysplasia 1 |
|
Cataract, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviation of finger, Ca... |
OMIM:136760 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype... |
ORPHA:348 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cataract, Cryptorchidism, High hypermetropia, Vesicouretera... |
ORPHA:250989 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Incontinentia Pigmenti |
|
Finger syndactyly, Cataract, Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, C... |
ORPHA:464 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Ataxia, Constriction of peripheral visual field, Nyctalopia, Elevated circulating phyta... |
OMIM:614879 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Tapered finger, Bro... |
ORPHA:435638 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Somatic sensory dysfunction, Fever, Urinary incontinence... |
ORPHA:79276 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Apnea, Broad hallux, Micrognathia, Short tibia, Tachypnea, Adactyly, Broad fir... |
ORPHA:2751 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:90003 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Tapered finger, Aggressive behavior, Horseshoe kidney, Gait disturbance, A... |
ORPHA:65286 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... |
OMIM:616084 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Clinodacty... |
OMIM:194050 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Renal tubular dysfunction... |
ORPHA:506 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:606002 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal r... |
ORPHA:488618 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive, Tu... |
OMIM:263000 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... |
OMIM:616738 |
Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod... |
ORPHA:411593 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Somatic sensory dysfunction, Neurogenic... |
ORPHA:79473 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Hyperventilation, Pain insens... |
ORPHA:90062 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Myopia, Cataract, Rhizomelia, Dumbbell-shaped long bone, D... |
OMIM:156550 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Femor... |
ORPHA:666 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... |
OMIM:206920 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Endocardial fibroel... |
ORPHA:99776 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Atri... |
OMIM:608629 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Bitemporal hemianopia, Abnormal visual field test, Tremor, Elevated circulating thyro... |
ORPHA:91347 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, Ectopic kidney, Renal cyst, Microcornea, C... |
OMIM:122470 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Failure to thrive, Rh... |
OMIM:222765 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Myopia, Renal insufficiency, Glomerular basement membrane lamellation, Protei... |
OMIM:301050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Visual ... |
OMIM:614946 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Small hand, Talip... |
OMIM:619980 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... |
ORPHA:397715 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hip dysplasia, Microph... |
ORPHA:195 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, M... |
OMIM:615524 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Orch... |
ORPHA:449563 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... |
ORPHA:79106 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Amblyopia, Tremor, Positional foot deformity, Dysmetr... |
ORPHA:572798 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Micrognathia, Recurrent pneumonia, Sterile abscess, Bronchiectasis, Decreased circu... |
OMIM:618282 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Micromelia |
ORPHA:291 |
Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
Warburg Micro Syndrome 3 |
|
Cataract, Micrognathia, Cerebral visual impairment, Inability to walk, Developmental cataract, An... |
OMIM:614222 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short prox... |
ORPHA:261323 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Proximal placement of thumb, Microphthalmia, Clinodactyly, Failure to thrive, Anemia |
OMIM:617883 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Myopia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract... |
OMIM:612394 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Mitral valve prolapse, Genu valgum, Mi... |
ORPHA:2712 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Decreased circulating IgG level, Brachydactyly, Rhizomelia, Flat capital femoral epip... |
OMIM:271510 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Hypoplasia of the iris, Recurrent... |
OMIM:612783 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... |
ORPHA:35858 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peter... |
OMIM:618652 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
Lassa Fever |
|
Shock, Fever, Menometrorrhagia, Cough, Dyspnea, Jaundice, Oliguria, Increased circulating IgM lev... |
ORPHA:99824 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Ataxia, Cataract, Generalized dystonia, Aggressive behavior, Chorea, D... |
OMIM:618321 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia |
OMIM:152700 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholest... |
OMIM:302960 |
Ppoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97278 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Cataract, Apnea, Corneal opacity, Micrognathi... |
ORPHA:1052 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepati... |
OMIM:266920 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Cataract, Telangiectasia of the skin, Diabetes mellitus, ... |
ORPHA:1775 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev... |
OMIM:620138 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Large for gestational age, Cryptorchidism, Blue ... |
OMIM:610733 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:99880 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal... |
ORPHA:449432 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG level, Decrease... |
OMIM:300861 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Micrognathia, D... |
OMIM:610756 |
Cockayne Syndrome Type 3 |
|
Microcornea, Photophobia, Lentiglobus, Intention tremor, Hepatomegaly, Renal hypoplasia, Hypermet... |
ORPHA:90324 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Adult Idiopathic Neutropenia |
|
Fever, Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Mono... |
ORPHA:2688 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Visual impairment |
OMIM:251270 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Bilater... |
OMIM:601186 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Camptodactyly of finger, Urinary incontinence, Tachypnea, Respiratory ... |
OMIM:604320 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
Glucose-Galactose Malabsorption |
|
Fever, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia... |
ORPHA:35710 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Pes planus, Hallux valgus, Sandal gap, Tapered finger, Secundum atrial sept... |
OMIM:620072 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, Pedal edema, Atrial septal defect, Vesicoureteral reflux, Hypothyro... |
ORPHA:821 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Myelofibrosis, Increased RBC distribution width, Epistaxis, Macrothr... |
OMIM:187900 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar ... |
ORPHA:3162 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, D... |
OMIM:618042 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Cryptorchidism, Amblyopia, Mi... |
OMIM:147791 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Postural tremor, Tapered finger, Cerebral visual impairment, Splenomegaly, ... |
OMIM:301072 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Hepatosplenomegaly, Azoosper... |
ORPHA:2072 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Hypospadias, Phimosis, Thrombocytopenia, ... |
OMIM:305000 |
Chronic Myeloid Leukemia |
|
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... |
ORPHA:521 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells, Decreased circu... |
OMIM:614878 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Myopia, Anophthalmia, Cataract, Proximal placement of thumb, Sclerocornea, Cry... |
ORPHA:139471 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Thrombocytopenia |
OMIM:619981 |
Serotonin Syndrome |
|
Fever, Restlessness, Tachycardia, Tremor, Tachypnea, Hypertension, Agitation, Hypotension, Hepati... |
ORPHA:43116 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, In... |
OMIM:608885 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Bacterial endocarditis, Abnormal... |
ORPHA:48435 |
Cerebrotendinous Xanthomatosis |
|
Cataract, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Respiratory insufficiency... |
OMIM:213700 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Asthma, Telangiectasia, Microcornea, Photophobia, Keratoconj... |
OMIM:601675 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... |
ORPHA:64 |
Hartsfield Syndrome |
|
Craniosynostosis, Split hand, Respiratory insufficiency, Aplasia/Hypoplasia of the radius, Microp... |
ORPHA:2117 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... |
OMIM:208500 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Thrombocytopenia, Metaphyseal widening,... |
OMIM:617941 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th finger, Atrioventricular... |
ORPHA:508498 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure, Splen... |
ORPHA:90037 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Recurrent pneumonia, High hypermetropia, 2-3 to... |
OMIM:616449 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Jacobsen Syndrome |
|
Microcornea, Iris coloboma, Long hallux, Broad hallux phalanx, Finger syndactyly, Multicystic kid... |
ORPHA:2308 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Cornea... |
OMIM:263700 |
Gm1 Gangliosidosis Type 1 |
|
Blindness, Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardio... |
ORPHA:79255 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Blindness, Increased circulating IgG4 level, Increased circulating IgA level, Retroperiton... |
ORPHA:79078 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Ataxia, Situs inversus totalis, Tremor, Hand polydactyly, Gait disturb... |
ORPHA:475 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Fever, Intercostal retractions, Reduced forced vital capacity, Mediastinal ... |
ORPHA:91359 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Abnorm... |
ORPHA:899 |
Oculodentodigital Dysplasia |
|
Micrognathia, Microcornea, Abnormality of vision, Clinodactyly of the 5th finger, Finger syndacty... |
ORPHA:2710 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Overlapping toe, Hypospadias, Micrognathia, Tapered fin... |
OMIM:619148 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Duplication of phalanx of hallux, Micropenis, Microphthalm... |
OMIM:243310 |
Nance-Horan Syndrome |
|
Short metacarpal, Cataract, Visual loss, Microcornea, Microphthalmia, Visual impairment |
ORPHA:627 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Cough, Failure to thrive... |
OMIM:230900 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Myopia, Renal insufficiency, Menometrorrhagia, Cataract, Epistaxis, ... |
ORPHA:79430 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia |
OMIM:615771 |
Letterer-Siwe Disease |
|
Fever, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Cryptorchidism, Respiratory insufficiency, Thromboc... |
ORPHA:1237 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
Mend Syndrome |
|
Hyperactivity, Cataract, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavior, Long f... |
ORPHA:401973 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Bone marrow hypocellularity, Failure to thrive, Th... |
ORPHA:3322 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Mildly elevated ... |
OMIM:607459 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ... |
OMIM:619774 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Elevated circulating creatine kinase concentration, High myopia, Buphthalmos, Respirato... |
OMIM:616538 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia, High hypermetropia |
OMIM:251600 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fever, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubi... |
ORPHA:90036 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Multiple Endocrine Neoplasia Type 2 |
|
Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,... |
ORPHA:653 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Myopia, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ve... |
OMIM:619482 |
Mosaic Trisomy 1 |
|
Renal cyst, Finger clinodactyly, Micropenis, Absent distal interphalangeal creases, Long toe, Mic... |
ORPHA:1692 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive... |
OMIM:261990 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Optic d... |
OMIM:300514 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Attention deficit hyperactivity disorde... |
ORPHA:1942 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Ataxia, Pericardial effusion, Cryptorchidism, Short... |
OMIM:139210 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cataract, Overlapping toe, Inability to walk, Abnormal heart morphology, Astig... |
OMIM:618571 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec... |
OMIM:617306 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:188025 |
Sponastrime Dysplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Osteopathia striata, Ivory epiphyses of th... |
ORPHA:93357 |
Microsporidiosis |
|
Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Ataxia, Micrognathia, Bilateral cry... |
ORPHA:2754 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia... |
OMIM:613885 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Hypercalcemia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Cataract, Blindness, Vitreous floaters, Reduced visual acuity, Reduced bo... |
ORPHA:891 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Visual impairment |
ORPHA:1528 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... |
OMIM:617478 |
Joubert Syndrome 2 |
|
Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Abnormal foot morphology, Postaxi... |
OMIM:608091 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Pelvic mass, Reduced C-peptide level, Diplopia, Weight los... |
ORPHA:2126 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Microvesicular he... |
OMIM:611126 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Developmental cataract, Absent distal phalanges, Short middle phalanx of finger, Mi... |
OMIM:614219 |
Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Brachydactyly, Corneal opacity, Hyperextensibility of the knee, Mi... |
OMIM:601812 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
Warburg Micro Syndrome 4 |
|
Inability to walk, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropeni... |
OMIM:615663 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Elevated circulating... |
OMIM:617994 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Renal hypoplasia/... |
ORPHA:568 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax... |
OMIM:619879 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Myopia, Cataract, Arachnodactyly, Ataxia, Corneal opacity, Ureteral stenosis, Abnormal thumb morp... |
ORPHA:2719 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Postaxial han... |
ORPHA:85284 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Behçet Disease |
|
Myocardial infarction, Pulmonary embolism, Anorexia, Photophobia, Glomerulopathy, Ataxia, Vasculi... |
ORPHA:117 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Atrial septal defect, Phocom... |
ORPHA:2538 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Cataract, Ataxia, Elevated circulatin... |
OMIM:615356 |
Joubert Syndrome 37 |
|
Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Microphthalmia, Mic... |
OMIM:619185 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... |
OMIM:617237 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arteritis, Recurrent fe... |
OMIM:301054 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Cataract, Arachnodactyly, Ataxia, Abnormality of neutrophils, O... |
ORPHA:2720 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Elevated circulating c... |
OMIM:137920 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Small ... |
ORPHA:555874 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Hypoplasia of the iris, Iris coloboma, Finger syndactyly, Multicystic kidn... |
ORPHA:2092 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Pes planus, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Moderate myopia, Ectopia lentis... |
OMIM:601552 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Elevated circulating creatine kinase concentration, Hypoplasia of the iris, Microcornea, Limb dys... |
OMIM:175780 |
Vitreoretinochoroidopathy |
|
Blindness, Nyctalopia, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorr... |
OMIM:193220 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pain insensitivity, Cataract, Telangiectasia of the skin, Abnormal p... |
ORPHA:679 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Tachypnea, Apnea, Reduced visual acuity |
OMIM:617622 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein... |
OMIM:301074 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,... |
OMIM:618150 |
Viss Syndrome |
|
Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Increased circulating IgG level,... |
OMIM:619472 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted... |
OMIM:610758 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Cataract, Small for gestational age, Micrognathia, Cryptorchidism, Metaphyseal wid... |
OMIM:234100 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Hepatic fibrosis, Bone ... |
OMIM:224230 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Myopia, Broad long bones, Cataract, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 f... |
OMIM:257850 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level,... |
ORPHA:275 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia |
OMIM:617244 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Stiff-Person Syndrome |
|
Fever, Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, ... |
OMIM:184850 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis... |
ORPHA:2307 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Cataract, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip... |
ORPHA:35173 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Micrognathia, Asplenia, Iris coloboma, Accessory spleen, Syndactyly, Malforma... |
OMIM:249000 |
Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus... |
ORPHA:3463 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El... |
OMIM:612089 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral a... |
ORPHA:564 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Joint hemorrhage, Menorrhagia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septa... |
ORPHA:251014 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Tremor, Dyspnea, Hypertension, Hypokalemia, Intersti... |
ORPHA:330021 |
Netherton Syndrome |
|
Decreased circulating IgG level, Allergic rhinitis, Asthma, Increased circulating IgE level, Hype... |
OMIM:256500 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Micrognathia, Preaxial hand polydactyly... |
OMIM:236680 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Sclerocornea, Cataract, ... |
ORPHA:251038 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Cataract, Ataxia, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Micro... |
OMIM:164200 |
Hallermann-Streiff Syndrome |
|
Myopia, Micrognathia, Congestive heart failure, Cryptorchidism, Small hand, Respiratory insuffici... |
ORPHA:2108 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitatio... |
OMIM:618056 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... |
OMIM:613091 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Oligosacchariduria, Cortical thickening of long bone diaphyses, Hypoplastic inferior ... |
ORPHA:309282 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Atrial septal def... |
OMIM:118450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Micrognathia, Tremor, Microvesicular hepatic steatosis, Tachypnea, Aortic ... |
OMIM:220111 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Anorexia, Neoplasm of the thymus, Pancreatoblastoma, ... |
ORPHA:99889 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... |
ORPHA:88 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet... |
OMIM:601709 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertr... |
OMIM:619053 |
Idiopathic Uveal Effusion Syndrome |
|
Metamorphopsia, Abnormal anterior eye segment morphology, Reduced visual acuity, Visual field def... |
ORPHA:209956 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar... |
OMIM:604229 |
Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Camptodactyly of finger, Short thumb, Cryptorchidism, Abnorm... |
OMIM:244300 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Usher Syndrome |
|
Myopia, Blindness, Cataract, Ataxia, Nyctalopia, Vestibular areflexia, Abnormal cardiovascular sy... |
ORPHA:886 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Poorly ossified vertebrae, Sh... |
OMIM:619135 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Werner Syndrome |
|
Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Elevated circulating aspartate aminotran... |
OMIM:277700 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism, Split foot, Microcornea |
OMIM:601349 |
Joubert Syndrome 14 |
|
Ventricular septal defect, Ataxia, Postaxial polydactyly, Cerebral visual impairment, Renal cyst,... |
OMIM:614424 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Scle... |
ORPHA:77298 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Anophthalmia, Sclerocornea, Micrognathia, Epispadias, Abnormal penis morpho... |
ORPHA:2556 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Nyctalo... |
OMIM:260920 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulo... |
OMIM:619525 |
Wound Botulism |
|
Fever, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Diplopia, Urina... |
ORPHA:178475 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Cataract, Micrognathia, Short thumb, Crypt... |
OMIM:268400 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Slender long bone, Progressive visual loss, Increased serum testosterone level,... |
ORPHA:96181 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia |
OMIM:601794 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Agel Amyloidosis |
|
Cataract, Ataxia, Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivit... |
ORPHA:85448 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Blindness,... |
OMIM:609049 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism, Respiratory insu... |
ORPHA:861 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Fever, Orthostatic hypotension, Somatic sensory dysfunction, Decrea... |
ORPHA:139417 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fever, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive... |
ORPHA:90033 |
Tufted Angioma |
|
Anemia, Paresthesia, Thrombocytopenia |
ORPHA:1063 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Respiratory failure, Atrial septa... |
OMIM:620327 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage |
ORPHA:3002 |
Seckel Syndrome 2 |
|
Small for gestational age, Hypospadias, Micrognathia, Ectopic kidney, Heart murmur, Clinodactyly ... |
OMIM:606744 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Riddle Syndrome |
|
Decreased circulating IgG level, Ataxia |
OMIM:611943 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Impaired myocardial cont... |
ORPHA:79102 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio... |
OMIM:114290 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Dystonia, Diabetes mellitus, Unexplained fevers, Cardiomegaly, Ray... |
ORPHA:51 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium... |
OMIM:619339 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
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 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Apnea, Ataxia, Aggressive behavior, Inability to walk, Bruxism, Astigm... |
OMIM:617799 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti... |
OMIM:240300 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Micrognathia, Talipes equinovalgus, Cryptorchidism, Hip dislocation, Transient ... |
ORPHA:3132 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Fever, Eosinophilia, Craniosynostosis, Increased circulating IgE level, Cough |
ORPHA:2314 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Renal insufficiency, Proteinuria, Respirator... |
OMIM:614748 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r... |
ORPHA:261537 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Mis... |
ORPHA:3301 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Calcaneovalgus ... |
ORPHA:261552 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Buphthalmos, Microcornea, Anterio... |
OMIM:269400 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... |
OMIM:605432 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Myopia, Blindness, Cataract, Corneal opacity, Optic nerve hypoplasia, Elevated circulating creati... |
OMIM:236670 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Bilateral renal h... |
OMIM:243605 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Amblyopia, Neonatal asphyxia, Cryptorchidism, Heart murmur, Multiple bladder diverti... |
ORPHA:2728 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Asthma, Increased circulating IgE level, Palmoplantar hyperhidrosis |
OMIM:270300 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Central hypoventilation, Hip dysplasia, Camptodactyly, Atrial... |
OMIM:611961 |
Asparagine Synthetase Deficiency |
|
Blindness, Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Cerebra... |
OMIM:615574 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Myopia, Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventric... |
OMIM:300952 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Myopia, Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Hypermetrop... |
OMIM:613150 |
Cystinosis, Adult Nonnephropathic |
|
Photophobia, Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Urachal Cyst |
|
Fever, Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Dy... |
ORPHA:488 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Anterior cortical cataract, Red-green dyschromatopsia, Ataxia, Pos... |
ORPHA:67036 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Rodrigues Blindness |
|
Blindness, Sclerocornea, Nasal flaring, Microcornea, Microphthalmia |
OMIM:268320 |
Micro Syndrome |
|
Hypoplasia of penis, Cataract, Micrognathia, Cerebral visual impairment, Cryptorchidism, Abnormal... |
ORPHA:2510 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Bone marrow hypocellularity |
OMIM:609054 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... |
ORPHA:227990 |
Vici Syndrome |
|
Cataract, Decreased circulating IgG2 level, Ureteral atresia, Cardiomyopathy, Renal tubular acido... |
ORPHA:1493 |
Fatal Familial Insomnia |
|
Fever, Apnea, Ataxia, Diplopia, Weight loss, Urinary retention, Dysphagia |
OMIM:600072 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Biliary atresia, Vesicour... |
OMIM:115470 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, ... |
ORPHA:343 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ... |
OMIM:217300 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestation... |
OMIM:229850 |
Cockayne Syndrome A |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,... |
OMIM:216400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Cataract, Conjugated hyperbilirubinemia, Jaundice, Hepatosp... |
ORPHA:168577 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut... |
ORPHA:227982 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... |
OMIM:615665 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Talipes calcaneovalgus |
OMIM:600251 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul... |
OMIM:608328 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r... |
ORPHA:2152 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia, Micrognathia |
ORPHA:163961 |
Mucoepithelial Dysplasia, Hereditary |
|
Blindness, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Keratoconjuncti... |
OMIM:158310 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Hypospadias, Junctional ecto... |
OMIM:309801 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:260660 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Abnormality of vision, Triphalangeal thumb, Clinodactyly of ... |
ORPHA:857 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Congenital hip dislocation, Microphthalmia |
OMIM:164180 |
Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Hypospadias, Micrognathia, Cryptorchidism, Renal hypoplasia, Radiou... |
OMIM:248700 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior, Postaxial hand pol... |
OMIM:213300 |
Monosomy 18P |
|
Generalized dystonia, Micrognathia, Hypertension, Microphthalmia, Hypothyroidism, Brachydactyly |
ORPHA:1598 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of vision, Abnormality of... |
ORPHA:1606 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Photophobia, Keratoconjunctivitis s... |
OMIM:278730 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Increased bone minera... |
ORPHA:90652 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Myopia, Brachydactyly, Cataract, Sandal gap, Broad hallux, Reduced visual acuity, Ectopia pupilla... |
OMIM:618727 |
Alport Syndrome 3A, Autosomal Dominant |
|
Myopia, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomeruloneph... |
OMIM:104200 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness, Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacif... |
OMIM:164900 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Abnormality of vision, Abnormality of bone mineral densi... |
ORPHA:138 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Blindness, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of vision, Keratoc... |
ORPHA:1806 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cataract, Elevated circulating creatine kinase concentration, Fatigable weakness of bulbar muscle... |
ORPHA:363623 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Adrenomyeloneuropathy |
|
Abnormal libido, Urinary incontinence, Abnormal circulating fatty-acid concentration, Dysesthesia... |
ORPHA:139399 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Self-injurious behavior, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Unil... |
OMIM:605822 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Atrial septal defect, Contracture of the... |
OMIM:300166 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Broad hallux, Aplasia of the thymus, Micrognathia, Amblyopia, Hypothyroidism,... |
OMIM:620186 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Hepat... |
ORPHA:373 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilate... |
ORPHA:508488 |
Acromelic Frontonasal Dysplasia |
|
Myopia, Anterior pituitary hypoplasia, Cryptorchidism, Upper airway obstruction, Patellar hypopla... |
ORPHA:1827 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Trisomy 18 |
|
Microretrognathia, Cataract, Ventricular septal defect, Camptodactyly of finger, Cachexia, Abnorm... |
ORPHA:3380 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Micrognathia, Tremor, Prominent fingertip pads, Clinodactyly of the 5th fi... |
OMIM:612474 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Allergic rhinitis, Dysuria, Asthma, Chronic pulmonary obst... |
OMIM:618131 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, M... |
OMIM:614225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ... |
OMIM:610256 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Microphthalmia-Brain Atrophy Syndrome |
|
Blindness, Tongue thrusting, Bilateral microphthalmos |
ORPHA:77299 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Myopia, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Parathormone-independent in... |
ORPHA:405 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Anophthalmia, Cataract, Amblyopia, Visual loss, Abnormality of vision, Chyloth... |
ORPHA:2526 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Pes planus, Aggressive behavior, 2-3 toe syndactyly, Gait disturbance, Joint contracture of the 5... |
OMIM:620098 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision... |
ORPHA:83461 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phospholipid ac... |
OMIM:265120 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Ataxia, Broad hallux, Micrognathia, Decreased circulating IgA le... |
OMIM:617062 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Diabetes mellitus, Pneumonia,... |
ORPHA:183675 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Persistent Hyperplastic Primary Vitreous |
|
Blindness, Cataract, Corneal opacity, Amblyopia, Phthisis bulbi, Leukocoria, Reduced visual acuit... |
ORPHA:91495 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Central adren... |
OMIM:615577 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... |
ORPHA:284160 |
Papa Syndrome |
|
Fever, Proteinuria, Lymphadenopathy, Increased circulating antibody level, Type I diabetes mellitus |
ORPHA:69126 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Reduced visual acuity, Microcornea, Microphthalmia, Ocular anterior segment dysgene... |
OMIM:615145 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... |
ORPHA:2330 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Keratoconjunctivitis sicca, Long t... |
OMIM:620370 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response, Mitral valve prolapse |
ORPHA:309155 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Large for gestational age, Tibial bowing, Long hallux, Multicystic kidney ... |
ORPHA:500095 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Micrognathia, Cryptorchidism, Vesicou... |
ORPHA:2059 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Chorea, Lymphadenopat... |
ORPHA:536 |
Nance-Horan Syndrome |
|
Visual loss, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Mic... |
OMIM:302350 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Lon... |
OMIM:617527 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,... |
ORPHA:3455 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agenesis, Adrenal hypoplasia, Co... |
OMIM:264480 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... |
OMIM:613001 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Tetralogy of Fallot, Microphthalmia, Failure to t... |
ORPHA:2328 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Peters anomaly, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Small for gestational age, Bicuspid aortic valve, Allergic rhini... |
OMIM:176690 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Genu recurvatum, Apnea, Overlapping toe, Hip dislo... |
OMIM:617301 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi... |
ORPHA:1352 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Aspiration, Vesi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Aspiration, Vesi... |
ORPHA:353277 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Photophobia, Corneal ulceration, Conjunctivitis, Chyloth... |
OMIM:153400 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H... |
ORPHA:469 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Failure to thrive, Ataxia, Visual impairment |
OMIM:616881 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal h... |
OMIM:614083 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Blindness, Cataract, Ventricular septal defect, Metaphyseal widening, P... |
OMIM:259770 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Hypernatriuria, Bicarbonaturia, Hypovolemia, Bicar... |
ORPHA:47159 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Peters anom... |
OMIM:614643 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Anophthalmia, Rhizomelia, Cataract, Sclerocornea, Hypospadias, Precocious puberty, 2-... |
OMIM:615877 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Legius Syndrome |
|
Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephr... |
ORPHA:137605 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hand clenching, Microphthalmia, Visual impair... |
OMIM:616920 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating total IgM, Dysphagia, Decreased circulating IgG level, D... |
OMIM:620040 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Momo Syndrome |
|
Blindness, Large for gestational age, Abnormality of the thyroid gland, Bilateral microphthalmos,... |
ORPHA:2563 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Bile... |
OMIM:611134 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Cryptorchidism, Camptodactyly... |
OMIM:614230 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic iliac wing, Pterygium, Microp... |
OMIM:263650 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis,... |
OMIM:617914 |
Norrie Disease |
|
Blindness, Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Bu... |
OMIM:310600 |
Basal Cell Nevus Syndrome 1 |
|
Cataract, Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Cardiac fib... |
OMIM:109400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Aspiration pneumonia, Vesico... |
ORPHA:444077 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Micropht... |
OMIM:234050 |
Omodysplasia 2 |
|
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypopl... |
OMIM:164745 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Amblyopia, Preaxial hand polydactyly, 2-3 fi... |
OMIM:601707 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Access... |
OMIM:268300 |
Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Ultra-low vision with retained light perception, P... |
OMIM:612109 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Hypospadias, Lower limb asymmetry, Micrognathia, Cryptorchidism, Congestive heart failure, Microc... |
ORPHA:2505 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Ectopic kidney, Visual loss, Foot polydactyly, Short pal... |
ORPHA:268249 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Failure to thrive |
OMIM:617864 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Blindness, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytop... |
ORPHA:853 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Pyoderma Gangrenosum |
|
Fever, Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Gm2-Gangliosidosis, Ab Variant |
|
Blindness, Exaggerated startle response, Chorea, Dystonia, Aspiration |
OMIM:272750 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Ventricular septal defect, Opti... |
OMIM:206900 |
Blau Syndrome |
|
Fever, Clear cell renal cell carcinoma, Pericarditis, Cataract, Camptodactyly of finger, Keratiti... |
ORPHA:90340 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Myopia, Abnormal morphology of ulna, Micromelia, Abnormal tibia morpholog... |
ORPHA:2634 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Buphthalmos, Microcornea, Shallow... |
OMIM:221900 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Atrial se... |
ORPHA:672 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Cryptorchidism, Hypermet... |
OMIM:300895 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Coronal craniosynostosis, Hypogonadism |
ORPHA:228390 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... |
OMIM:305600 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Intracranial ... |
OMIM:613406 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Clinodactyly of the 5th finger, Microphthalm... |
ORPHA:2399 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Vesicoureteral ... |
OMIM:616975 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Eosinophilia, Keratitis, Leukocytosis, Retinal hemorrhage, Mic... |
OMIM:308300 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Leukocytosis, Nyctalopia, Renal hypoplasia, Genu valgum, Abdominal obesit... |
OMIM:619321 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Photophobia, Conjunctivitis, Neutropen... |
ORPHA:95455 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Myopia, Ven... |
OMIM:163950 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Micrognathia, Coxa valga, Cerebral visual impairment, Hip dislocation, Br... |
OMIM:619297 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Cryptorchidism, 3-4 finger cutaneous syndactyly, Talipes e... |
OMIM:612530 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Syncope, Apnea |
OMIM:614618 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Ureteral ... |
OMIM:272950 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Micropenis, Recurrent aspiration pneum... |
OMIM:612289 |
Frontorhiny |
|
Cataract, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Microphthalm... |
ORPHA:391474 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Monosomy 9Q22.3 |
|
Hyperactivity, Cataract, Large for gestational age, Plantar pits, Cardiac fibroma, Polydactyly, M... |
ORPHA:77301 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Clinodactyly of the 5th finger, Atrial septal defect, P... |
OMIM:619522 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Ankle clonus, Dystonia, Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... |
OMIM:617666 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking... |
ORPHA:320406 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Clinodactyl... |
OMIM:619539 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Renal hypoplasia/a... |
ORPHA:958 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Small for gestational ag... |
OMIM:606721 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... |
OMIM:304120 |
Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism, Microphthalmia, Cataract, Ataxia |
OMIM:610651 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Microphthalmia |
ORPHA:2189 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil... |
OMIM:611561 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Blindness, Anophthalmia, Cataract, Hypoplasia of penis, Amblyopia, Cryptorchidism, Visual loss, H... |
ORPHA:2250 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ankle clonus, Exaggerated startle response, Overlapping toe, Ataxia |
OMIM:618598 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... |
OMIM:184705 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect, Apnea, Trach... |
OMIM:300373 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Failure to thrive,... |
OMIM:618874 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Reduced visual acuity, Peters anomaly, Vesicoureteral reflu... |
OMIM:120200 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda... |
OMIM:603194 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Hypothyroidism |
ORPHA:3198 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea, Hip dislocation |
OMIM:149400 |
Tay-Sachs Disease |
|
Aspiration, Blindness, Exaggerated startle response |
OMIM:272800 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Asthma, Small hand, Leukocoria, Short foot, Microphthalmia |
ORPHA:2714 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... |
ORPHA:3186 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Renpenning Syndrome 1 |
|
Blindness, Cataract, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus totalis... |
OMIM:309500 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Micrognathia, Adrenal hypoplasia, Microcornea, Clinodactyly of the 5t... |
OMIM:607932 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Hypothyroidism, Lens coloboma, Abnorma... |
ORPHA:42775 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Absent Achilles reflex, Ankle clonus, Pes cavus |
OMIM:609541 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating abil... |
OMIM:610188 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria |
OMIM:245050 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Cerebral visual impairment |
OMIM:620114 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Norrie Disease |
|
Blindness, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ect... |
ORPHA:649 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cerebral visual impairment, Atrial septal defect, Emphysema, Decreased circulating IgG level, Abs... |
ORPHA:500150 |
Hyperekplexia 2 |
|
Myopia, Exaggerated startle response, Astigmatism |
OMIM:614619 |
Plague |
|
Respiratory distress, Hepatomegaly, Tachycardia, Fever, Mydriasis, Anorexia, Hematemesis, Splenom... |
ORPHA:707 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Micrognathia, Missi... |
OMIM:200980 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Micrognathia, Bradycardia, Emphysema, Pulmonary insufficiency |
OMIM:614437 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae, Myopia |
OMIM:156900 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Micrognathia |
ORPHA:1915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, ... |
OMIM:253280 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of t... |
ORPHA:364577 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Tachypnea, Hypertension, Atrial septal defect, Pulmonary arterial hypertension, M... |
OMIM:613834 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:468631 |
Tetraamelia Syndrome 1 |
|
Cataract, Renal agenesis, Micrognathia, Asplenia, Urethral atresia, Hypoplastic pelvis, Adrenal g... |
OMIM:273395 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Cryp... |
ORPHA:3412 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5t... |
OMIM:608670 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Short foot, Optic nerve hypoplasia, Bilateral microphthalmos, Broad proximal phalanges of the hand |
OMIM:607597 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Mic... |
OMIM:256520 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Long fingers, Microcornea, Micrognathia |
OMIM:156610 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Talipes, Adrenal hypoplasia, Micrognathia, Renal hypoplasia/apl... |
ORPHA:2166 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract, Congenital hypothyroid... |
OMIM:606519 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left ... |
OMIM:100300 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Renal hypoplasi... |
ORPHA:2753 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... |
ORPHA:1788 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Craniosynostosis |
OMIM:613451 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pes planus, Hypospadias, Tapered finger, Micrognathia, Long fingers, Cryptorchidism, 2-3 toe synd... |
OMIM:616734 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Aicardi Syndrome |
|
Cataract, Proximal placement of thumb, Missing ribs, Precocious puberty, Recurrent pneumonia, Hep... |
OMIM:304050 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... |
ORPHA:141099 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an... |
OMIM:114065 |
Cysticercosis |
|
Somatic sensory dysfunction, Ataxia, Diplopia, Increased circulating antibody level, Abnormal myo... |
ORPHA:1560 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Blindness, Anophthalmia, Corneal opacity, Hypospadias, Aplasia/H... |
OMIM:219000 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Fever, Short humerus, Exaggerated startle response, Short femur, Tapered finger, Cerebral visual ... |
OMIM:618367 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cataract, Hypospadias, Cryptorchidism,... |
OMIM:603457 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal p... |
OMIM:201180 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Broad thumb, Microphthalmia, Iris coloboma |
ORPHA:1236 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Overlapping toe, Micrognathia, Cryptorchidism, Hip dislocation, Clinod... |
OMIM:613884 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Linear Nevus Sebaceus Syndrome |
|
Abnormality of vision, Microphthalmia, Genu recurvatum, Iris coloboma |
ORPHA:2612 |
Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism, Increased circulating antibody level |
ORPHA:48377 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Branchiooculofacial Syndrome |
|
Myopia, Anophthalmia, Cataract, Hypospadias, Proximal placement of thumb, Micrognathia, Renal age... |
OMIM:113620 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5... |
ORPHA:1587 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorc... |
ORPHA:261112 |
Aicardi Syndrome |
|
Missing ribs, Precocious puberty, Small hand, Hip dysplasia, Delayed puberty, Hepatoblastoma, Mic... |
ORPHA:50 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses... |
ORPHA:306542 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Microcornea, Prominent fingertip pads, Iris coloboma, Self-m... |
OMIM:309800 |
Mowat-Wilson Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abno... |
OMIM:235730 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Fraser Syndrome |
|
Finger syndactyly, Blindness, Anophthalmia, Toe syndactyly, Hypoplasia of penis, Multicystic kidn... |
ORPHA:2052 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Isolated Arrhinia |
|
Respiratory distress, Microphthalmia |
ORPHA:1134 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Micrognath... |
OMIM:164210 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Treacher Collins Syndrome 1 |
|
Micrognathia, Visual loss, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Holoprosencephaly 2 |
|
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesi... |
OMIM:157170 |
Holoprosencephaly 1 |
|
Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus, Single ventricle |
OMIM:236100 |