Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
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 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
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, 2 |
|
Macular degeneration |
OMIM:153800 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
Macular Dystrophy, Patterned, 2 |
|
Foveal hyperpigmentation, Drusen |
OMIM:608970 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Fever, Leukocytosis, Splenomegaly, Hepatosplenomeg... |
OMIM:209950 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent fever, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, S... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... |
OMIM:615559 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Alpha-Heavy Chain Disease |
|
Fever, Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Premature... |
ORPHA:100025 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leishmaniasis |
|
Recurrent fever, Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leuk... |
ORPHA:507 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Recurrent fever, Fever, Elevated... |
OMIM:616050 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Pancreatitis, Hepatomegaly, Microphthalmia, Microcytic anemia, Cataract, Hypoal... |
OMIM:618805 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Choles... |
ORPHA:172 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... |
ORPHA:26793 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Nephritis, Nephropathy, Congenital thrombocytopenia, Menorrhagia, In... |
ORPHA:182050 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... |
OMIM:618534 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent fever, Lymphopenia, Increased circulating IgG3 level, Decreased c... |
OMIM:619773 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Lymphopenia, Decreased circulating IgG level, Hy... |
ORPHA:90362 |
Abetalipoproteinemia |
|
Corneal ulceration, Ataxia, Hepatomegaly, Steatorrhea, Osteopenia, Reticulocytosis, Scotoma, Resp... |
ORPHA:14 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Inability to walk, Hepatomegaly, Enlarged kidney, Proteinuria, Bone marrow ... |
OMIM:617303 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Fever, Lymphopenia, Decreased circulating IgG level, Hepatosplen... |
OMIM:619924 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Difficulty walking, Jaundice, Double outlet righ... |
ORPHA:1667 |
Drug-Induced Lupus Erythematosus |
|
Fever, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decr... |
ORPHA:231111 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Tip-toe gait, Limited knee flexion/extension, Right ventricular hypertrophy, C... |
ORPHA:268 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Al Amyloidosis |
|
Hepatomegaly, Autonomic erectile dysfunction, Renal interstitial amyloid deposits, Proteinuria, P... |
ORPHA:85443 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... |
ORPHA:454836 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hypothermia, Fever, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopen... |
ORPHA:292 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Hypocalcemia, Fever, Abnormality of the lymphatic system, Abnormali... |
ORPHA:47 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Pancytopeni... |
OMIM:603553 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... |
OMIM:155100 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... |
ORPHA:275555 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Failure to thrive, Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, In... |
OMIM:619048 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Abnormally ossified vertebrae, Micromelia, Abno... |
ORPHA:175 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... |
OMIM:222470 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... |
ORPHA:540 |
Pseudohypoparathyroidism Type 1A |
|
Band keratopathy, Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parath... |
ORPHA:79443 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Fever, Increased circulating IgA level, Elevated circulating C-reactive protei... |
OMIM:618048 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Tremor, 3-Methylglutaconic aciduria, Cataract, Neutropenia, Respiratory failure, Dystonia,... |
OMIM:617248 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hepatocellular necrosis, Hypothermia, Hepatomegaly, Hyperbilirubinemia, Micron... |
OMIM:251880 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Increased bone mineral density, Decreased... |
ORPHA:94089 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Ataxia, Hepatomegaly, 3-Methylglutaric aciduria, Hyperuricemia, Weight loss, Cardiac arres... |
ORPHA:20 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Tremor, Proteinuri... |
OMIM:212065 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Blindness, Hypocalcemia, Failure to thrive, Hepatomegaly, Increased bone mineral densi... |
OMIM:259700 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:241200 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Bronchiectasis, Club... |
OMIM:618982 |
Neuroleptic Malignant Syndrome |
|
Chorea, Tremor, Proteinuria, Hyperuricemia, Hypothermia, Fever, Oculogyric crisis, Elevated circu... |
ORPHA:94093 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Increased bone mineral dens... |
ORPHA:36913 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Panhypogammaglobulinemia, Abnormality of iron homeostasis, Ventricu... |
ORPHA:84064 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Hepatic failure, Hip subluxation, Pancytopenia, Cranial hyperostosis, Respiratory f... |
OMIM:259720 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Elevated circulating creatinine concentration, Dysesthesia, Pericarditis, Reticuloc... |
ORPHA:99826 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Nephritis, Menorrhagia, Hematuria, Leukocyte inclusion bodies, Devel... |
OMIM:153640 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Failure to thrive, Hepatomegaly, Elevated circulatin... |
OMIM:614727 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Pes cavus, Hypoalbum... |
ORPHA:94124 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Decreased circulating T4 concentration, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:95717 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Fever, Leukocytosis, Decreased... |
ORPHA:90060 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypothermia, Small for gestational age, Hypertrophic cardiomyopathy, Elevated cir... |
OMIM:618775 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... |
ORPHA:36234 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Reversible renal failure, Ab... |
ORPHA:90051 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... |
OMIM:612526 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Fol... |
OMIM:603909 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Inability to walk, Heparan sulfate excretion in urine, ... |
ORPHA:505248 |
Pelger-Huet Anomaly |
|
Failure to thrive, Pes cavus, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Shor... |
OMIM:169400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hepatomegaly, Hemophagoc... |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Decreased liver function, Talipes equinovarus, Hepatomegaly, Cholestasis, Camp... |
OMIM:608104 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Short distal phalanx of finger, Blindness, Hypocalcemia, Abnormal ... |
ORPHA:53 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, A... |
OMIM:603278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia... |
ORPHA:79312 |
Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Complete or near-complete abse... |
ORPHA:79324 |
Pseudohypoparathyroidism Type 1C |
|
Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone leve... |
ORPHA:79444 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, Myocardial infarction,... |
ORPHA:54370 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... |
OMIM:619487 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... |
OMIM:613101 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Cough, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic... |
OMIM:619013 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Impaired vibration sensation in the lower limbs, Mitral regurgitation, Pes cavus, Urinary urgency... |
ORPHA:447753 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Premature fusion of the radial epiphyseal plates, Decreased... |
ORPHA:90794 |
Malaria |
|
Respiratory distress, Gait imbalance, Fever, Elevated circulating C-reactive protein concentratio... |
ORPHA:673 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hyperammonemia, Elev... |
ORPHA:159 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Timothy Syndrome |
|
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, H... |
OMIM:601005 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Failure to thrive, Ataxia, Shortening of all distal... |
ORPHA:79320 |
Pearson Syndrome |
|
Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, ... |
ORPHA:699 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Decreased prealbumin level, Type I diabetes mellitus, Pneumonia, Failure to... |
ORPHA:37042 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... |
OMIM:231200 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Relapsing Fever |
|
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Jaundic... |
ORPHA:91547 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Necrotizing Enterocolitis |
|
Abnormal heart morphology, Apnea, Leukocytosis, Small for gestational age, Temperature instabilit... |
ORPHA:391673 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:95716 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent fever, Decreased proportion of naive T cells, Decreased circulating IgA level, Decrease... |
ORPHA:276 |
Cockayne Syndrome Type 1 |
|
Photophobia, Failure to thrive, Ataxia, Abnormality of temperature regulation, Increased blood ur... |
ORPHA:90321 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Fever, Decreased serum creatinine, Hematuria, Arrhythmia, Myoc... |
ORPHA:54057 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Fever, Transient ischemic attack, Increased blood urea nitrogen, Jaundice, ... |
OMIM:274150 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Pes cavus, Distal sensory impairment, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... |
OMIM:619073 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619658 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Ataxia, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micr... |
OMIM:617575 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, ... |
OMIM:226300 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Fever, Renal neoplasm, Respiratory insufficiency, Hematuria, Weight loss, ... |
ORPHA:69077 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Jaundice, Hem... |
OMIM:603552 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Photophobia, Failure to thrive, Recurrent fever, Increased circulating IgA level, Elevated circul... |
OMIM:617388 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Orthosta... |
ORPHA:230 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... |
ORPHA:247598 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Recurrent fever, Decreased circulating IgG level, E... |
OMIM:613011 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... |
OMIM:208920 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Equinus calcaneus, Tip-toe gait, Left ... |
ORPHA:746 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Fever, Leukocytosis, Palpitations, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Leukocytosis, Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis,... |
ORPHA:67 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Tapered finge... |
OMIM:608836 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... |
ORPHA:75565 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Ataxia, Infertility, Thyroiditi... |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... |
OMIM:607143 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Slc35A2-Cdg |
|
Inability to walk, Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, F... |
ORPHA:356961 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hyperactivity,... |
ORPHA:247585 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Decreased liver function, Hepatomegaly, Hepatic failure,... |
ORPHA:367 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased serum complement factor H, Fever, Hyperlipidemia, Decreased serum complement factor B, ... |
OMIM:235400 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone,... |
OMIM:602361 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Abnormality of the calf musculature, Limitation of movement at ankles, Leukocytosis, Positive Rom... |
ORPHA:206594 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Pancreatitis, Hepatomegaly, Hyperammonemia, Respiratory insufficiency, Leukopenia, Macroc... |
ORPHA:27 |
Eosinophilic Gastroenteritis |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... |
ORPHA:2070 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Fever, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly,... |
ORPHA:100024 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Osteopenia, Hypersplenism, Hypocholesterolemia, Ane... |
OMIM:610539 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Subdural hemorrhage, Jaundice, Visual impairment, Hemolytic-uremic ... |
ORPHA:79282 |
Boutonneuse Fever |
|
Photophobia, Fever, Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Vascul... |
ORPHA:83313 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular hypertrophy, Atrioventricular block, Hepatomegaly, Premature ventricu... |
OMIM:212138 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Small for gestational age, Renal agenesis, Short femora... |
OMIM:618440 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Urinary bladder sphincter dysfunction, Ataxia, Impotence, Bradykinesia, Dysmetria, Intention trem... |
ORPHA:93256 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia, Lacticaciduria, Respiratory insufficiency, Hypertaurinemia, Methy... |
OMIM:245400 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Hypoplasia of the capital femoral epiphysis, Proteinuria, Pancytopenia, Transient isc... |
OMIM:242900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Sarcoidosis |
|
Bone cyst, Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Cataract, Weight... |
ORPHA:797 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Failure to thrive, Recurrent fever, Lymphopenia, Increased circulating IgA level,... |
OMIM:615934 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoproteinemia, Shock, Hypoalbuminemia, Neutropenia |
OMIM:600351 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... |
ORPHA:238459 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Ataxia, Arrhythmia, Gait disturbance, Tremor, Abnormal pattern of respiration |
ORPHA:29822 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia, Areflexia of lower limbs, Falls |
OMIM:615883 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Chor... |
ORPHA:289916 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Increased level of galactitol in plasma, P... |
ORPHA:352 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urin... |
OMIM:618495 |
Lathosterolosis |
|
Bilobate gallbladder, Talipes equinovarus, Hyperbilirubinemia, Micrognathia, Hepatosplenomegaly, ... |
OMIM:607330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Photophobia, Pain insensitivity, Episodic hemolytic anemia, Increased blood urea nitrogen, Cranio... |
ORPHA:251004 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Respiratory insufficiency, Hyperalaninemia, Dystonia, Bradycardia |
OMIM:614654 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Abnormality of temperature regulation, Hepatomegaly, Splenom... |
ORPHA:848 |
Propionic Acidemia |
|
Apnea, Failure to thrive, Hyperglycinuria, Pancreatitis, Hepatomegaly, Hyperammonemia, Cerebellar... |
OMIM:606054 |
Babesiosis |
|
Photophobia, Fever, Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Respiratory insuffic... |
ORPHA:108 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... |
ORPHA:289157 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Hypothermia, Decreased circulating T4 conc... |
ORPHA:226313 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... |
OMIM:300400 |
Colchicine Poisoning |
|
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... |
ORPHA:31824 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Renal insufficiency, Hyp... |
ORPHA:79327 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Gitelman Syndrome |
|
Respiratory distress, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldoste... |
ORPHA:358 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Hepatomegaly, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brach... |
OMIM:614376 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Splenomegaly,... |
OMIM:613327 |
Hypophosphatasia, Infantile |
|
Apnea, Bowing of the legs, Metaphyseal cupping, Failure to thrive, Fever, Short ribs, Craniosynos... |
OMIM:241500 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Hypothermia, Sinusitis, Abnormality of the thyroid gland, Abnormal pericardium m... |
ORPHA:442 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Lymphopenia, Pulmonary insufficiency, B ly... |
ORPHA:277 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Failure to thrive secondary to recurren... |
OMIM:608971 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Nijmegen Breakage Syndrome |
|
Pollakisuria, Cachexia, Hemolytic anemia, Attention deficit hyperactivity disorder, Respiratory f... |
ORPHA:647 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... |
ORPHA:171 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Osteopenia, Hyperproteinemia, ... |
ORPHA:29073 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Fever, Arrhythmia, Oliguria, Elevated hepatic ... |
ORPHA:99845 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Hematochezia, Cataract, Paresthesia, Clubbin... |
OMIM:175500 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent fever, Failure to thrive, Persistent fever, Nephrotic syndrome, Elevated circulating C-... |
OMIM:619644 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hypertension, Decreased serum complement C3, Hematuria, Elevated c... |
OMIM:612925 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Apnea, Abnormality of temperature regulation, Hypophosphatem... |
ORPHA:667 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Fever, Leukocytosis, Abnormal nasopha... |
ORPHA:3392 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Myocarditis, Rhiniti... |
ORPHA:319213 |
Griscelli Syndrome |
|
Ataxia, Fever, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... |
ORPHA:381 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia, Band keratopathy, Hypergonadotropic hypogonadism, Osteopenia, Catara... |
ORPHA:2959 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Elevated circulating parathyroid hormone level, Hypocalcemic te... |
ORPHA:94090 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Ataxia, Abnormal cardiac septum morphology, Unilateral renal agenesis, Hypospadi... |
OMIM:616737 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal hip bone morphology, Osteoma... |
ORPHA:93160 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Ne... |
ORPHA:572 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Left ventricular hypertrophy, Renal dysplasia, A... |
OMIM:616733 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hemothorax, Subdural hemorrh... |
ORPHA:99827 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hypertension, Decreased serum complement C3, Hematuria, Elevated c... |
OMIM:612922 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Myocardial fibrosis, Abnormality of the hepatic vas... |
ORPHA:210136 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Intestinal bleeding, Lymphopenia, Reduced circulating transferri... |
ORPHA:90363 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyperprosta... |
ORPHA:89938 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Res... |
ORPHA:1505 |
Meningococcal Meningitis |
|
Photophobia, Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Hypotensi... |
ORPHA:33475 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ataxia, Hepatomegaly, Hepatic failure, Chorea, Hypothermia, Fever, Episodic respiratory di... |
ORPHA:255210 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypermetropia, Sleep apnea, Inability to walk, Hypothermia, Fever, Abnormality of temperature reg... |
OMIM:618493 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Pedal edema, Weight loss, Jaundice, Fever, Hyperbilirubinemia, Elevated hepatic tra... |
ORPHA:88673 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Myocarditis, Pneumonia, Decreased urine output, Abnormality of chemokine secretion,... |
ORPHA:544482 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Impaired vibration sensation at ankles, Pollakisuria, Tip-toe gait, Urinary retention, Spastic ga... |
ORPHA:447760 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypogonadism |
ORPHA:163693 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... |
ORPHA:439232 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulati... |
ORPHA:340 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Respiratory insufficiency, Microcornea, Large for gestational age,... |
ORPHA:2432 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, 3-Methylglutaconic aciduria, Developmenta... |
OMIM:212350 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Small hand, Congenital hypoparathyroidism, Slender long bone, Decre... |
OMIM:244460 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Bicuspid aortic valve, Atrial septal defect, ... |
OMIM:617744 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevat... |
OMIM:619632 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... |
ORPHA:93324 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... |
OMIM:214700 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Decreased liver function, Hypothermia, Respiratory insufficiency, Macrovesicul... |
OMIM:618329 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Decreased circulating IgG level, Endocardial fibrosis, Abn... |
OMIM:235550 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Acute ... |
ORPHA:36238 |
Pgm3-Cdg |
|
Ataxia, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Chronic sinusitis, B... |
ORPHA:443811 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Micrognat... |
OMIM:616730 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Bone marrow hypocellularity, Nephrolithiasis, Renal tubular acidosis,... |
ORPHA:2785 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Cholera |
|
Fever, Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration p... |
ORPHA:173 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... |
ORPHA:90674 |
Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Jaundice, Atrial septal defect, Splenomegaly, Ventricular septal d... |
ORPHA:290 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect, Hypertrophic cardiomyopathy, Respiratory failure, Dystonia, Bra... |
OMIM:616277 |
Ataxia-Telangiectasia |
|
Ataxia, Inability to walk, Progressive cerebellar ataxia, Tremor, Leukemia, Decreased circulating... |
OMIM:208900 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Nephrotic syndrome, Clinodactyly of the 5th finger, Decreased response to ... |
OMIM:618347 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Inappropriate... |
OMIM:618944 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... |
OMIM:619313 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Abnormal pulse pressure, Hepatic failure, Malignant hyperthermia, Prolonged QT interval, ... |
ORPHA:466650 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Mevalonic Aciduria |
|
Failure to thrive, Ataxia, Fluctuating hepatomegaly, Elevated circulating C-reactive protein conc... |
OMIM:610377 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... |
OMIM:616299 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Fever, Diffuse mesangial sclerosis, Abnormal circulating lipid concentrati... |
ORPHA:567548 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin le... |
ORPHA:447 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Impaired T cell function, Ventricular septal defect, Abnormali... |
ORPHA:567 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Chorea, Pneumon... |
ORPHA:1304 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the urethra, Nocturia, Urinary urgency, Abnormality of the menstrual ... |
ORPHA:37202 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypermetropia, Hypocalcemia, Microphthalmia, Increased bone mineral density, ... |
OMIM:127000 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Redu... |
OMIM:607271 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Abnormal femora... |
ORPHA:1830 |
Atrial Standstill |
|
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... |
ORPHA:1344 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Elevated circulating parathyroid hormone level, Brachydacty... |
OMIM:103580 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... |
ORPHA:89937 |
Tbck-Related Intellectual Disability Syndrome |
|
Asthma, Corneal opacity, 2-3 toe syndactyly, Inability to walk, Central adrenal insufficiency, Hy... |
ORPHA:488632 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyper... |
OMIM:251000 |
Primary Erythromelalgia |
|
Abnormality of thrombocytes, Leukemia, Hypothermia, Vasculitis |
ORPHA:90026 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hepatomegaly... |
OMIM:613070 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Pedal edema, R... |
ORPHA:84090 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Refsum Disease |
|
Ataxia, Microphthalmia, Nyctalopia, Splenomegaly, Respiratory insufficiency, Pes cavus, Heart blo... |
ORPHA:773 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Renal hypoplasia/aplasia, Cachexia, Micrognathia, Tapered finger, Sandal gap, Micro... |
ORPHA:1438 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Decreased serum complement C3, Complement deficiency, Decreased serum complem... |
ORPHA:567544 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Simple Cryoglobulinemia |
|
Spontaneous pain sensation, Complement deficiency, Monoclonal elevation of circulating IgA, Myoca... |
ORPHA:91139 |
Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger, Abnorma... |
OMIM:233270 |
Hypocalcemia, Autosomal Dominant 2 |
|
Paresthesia, Hypocalcemia |
OMIM:615361 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypermetropia, Apnea, Inability to walk, Osteopenia, Ventricular septal defect, Increased circula... |
ORPHA:438213 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, B lymphocytopenia,... |
OMIM:619381 |
Systemic Lupus Erythematosus 17 |
|
Recurrent fever, Fever, Lymphopenia, Raynaud phenomenon, Decreased serum complement C3, Mitral re... |
OMIM:301080 |
Acute Interstitial Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Cra... |
ORPHA:79126 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia, Lethargy |
OMIM:615026 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Leukopenia, Respiratory insufficiency,... |
OMIM:613845 |
Tetanus |
|
Respiratory distress, Fever, Opisthotonus, Elevated circulating creatine kinase concentration, Ta... |
ORPHA:3299 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Fever, H... |
ORPHA:542323 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Micrognathia, Hepatic fail... |
OMIM:235255 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:618349 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypermetropia, Hepatomegaly, Craniosynostosis, Talipes equinovalgus, Ventricular septal defect, R... |
OMIM:301056 |
Transaldolase Deficiency |
|
Telangiectasia, Atrial septal defect, Abnormality of the kidney, Hepatosplenomegaly, Cirrhosis, B... |
ORPHA:101028 |
Hypophosphatasia |
|
Craniosynostosis, Respiratory insufficiency, Bowing of the long bones, Emphysema, Hypercalcemia, ... |
ORPHA:436 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Purulent rhinitis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytope... |
OMIM:601457 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short 5th finger, Hypoplasia of the capital femoral epiphysi... |
ORPHA:557003 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypothermia, Ataxia, Hypocalcemia, Episodic respiratory distress, Hype... |
ORPHA:31826 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Microphthalmia, Small for gestatio... |
ORPHA:1617 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Ankle clonus, Dysdiadochokinesis, Urinary incontinence, Difficulty walking, Positional... |
ORPHA:171629 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Failure to thrive, Hypoparathyroidism, Hypocalcemia, Hypoplastic l... |
ORPHA:3426 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Heart murmur, Ventricular septal defect, Rocker bottom foot, Toe clinodactyly, Hyperbilirubinemia... |
ORPHA:163979 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... |
ORPHA:79124 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Microphthalmia, Anemia, Thrombocy... |
ORPHA:858 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Small for ... |
OMIM:256300 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
Pudendal Neuralgia |
|
Dysuria, Impotence, Dyspareunia, Paresthesia, Pollakisuria |
ORPHA:60039 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Urinary bladder sphincter dysfunction, Ataxia, Elevated alpha-fetoprotein, Elevat... |
ORPHA:64753 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Apnea, Recurrent fever, Cerebral hemorrhage, Leukoc... |
OMIM:618886 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Asthma, Fever, Elevated circulating C-reactive protein conc... |
ORPHA:449400 |
Immunodeficiency 43 |
|
Radial bowing, Decreased circulating IgG level, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbu... |
OMIM:241600 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Photophobia, Failure to thrive, Cirrhosis, Elevated hepatic transaminase, Keratoconus, Hypoalbumi... |
OMIM:242150 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Corneal crystals, Elevated circulating creatinine concentration, Proteinuria, Proxima... |
ORPHA:411634 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... |
OMIM:603233 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... |
ORPHA:90673 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Micrognathia, Hepatospleno... |
ORPHA:1655 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joi... |
OMIM:601559 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Cholestasis, Thin bony cortex, Pancytopenia, Bile duct proliferation, Respiratory fai... |
OMIM:613658 |
Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia, Osteoporosis, Nephrotic syndrome |
OMIM:613606 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
Acute Bilirubin Encephalopathy |
|
Fever, Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjuncti... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Fever, Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva... |
ORPHA:529808 |
Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Elevated circulating C-reactive protein concentration, Hematuria, Elevated circulating... |
ORPHA:49041 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypothyroidism, Hypo... |
OMIM:612462 |
Mpi-Cdg |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Mastocytosis |
|
Asthma, Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arrhyt... |
ORPHA:98292 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Atrial septal defect, Elevated circulating propionylcarnitine concentration, M... |
OMIM:614857 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Hennekam Syndrome |
|
Hypocalcemia, Lymphopenia, Chylothorax, Lymphangioma, Splenomegaly, Craniosynostosis, Pulmonary l... |
ORPHA:2136 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Micropenis, Hypospadias, Dilated cardiomyopathy, Developmental cataract, Hypertr... |
OMIM:618815 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal de... |
OMIM:617397 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Sensory ataxia, Arrhythmia, Gait disturbance, Cataract, Hypogon... |
OMIM:609286 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Menkes Disease |
|
Hypothermia, Metaphyseal spurs, Metaphyseal widening, Intracranial hemorrhage, Osteoporosis, Decr... |
OMIM:309400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Horseshoe kidney, Pericardial lymphangiectasia, Talipes equinovarus, H... |
OMIM:235510 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Cerebral vasculitis, Eosinophilia, Decreased circulating total IgM, Subarachnoid hemorrha... |
OMIM:243700 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Hypoparathyroidism, Corneal opacity, Hypocalcemia, Hypoplas... |
ORPHA:2323 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Fever, Orthostatic hypotension, Eleva... |
ORPHA:556037 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hypertension, Hematuria, Elevated circulating creatinine concentra... |
OMIM:612926 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Abnormal fingertip morphology, Ureteral obstruction, Urinary retention, Pne... |
ORPHA:79404 |
Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... |
ORPHA:91355 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Hyperammonemia, Keratoconjunctivitis, Tachypnea, Organic aciduria, ... |
ORPHA:79242 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria, Hypertension |
OMIM:189800 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Nephropath... |
ORPHA:2238 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Hepatomegaly, Unsteady gait, Hypothermia, Short femur, Abnormal rena... |
ORPHA:17 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Recurrent fever, Increased circulating antibody level, Sinusitis, Failure to thrive, Lymphopenia,... |
OMIM:617591 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Impaired vibratory sensation, Decreased LDL cholesterol concentra... |
OMIM:246700 |
Late-Onset Isolated Acth Deficiency |
|
Graves disease, Decreased circulating cortisol level, Orthostatic hypotension, Low-grade fever, M... |
ORPHA:199299 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... |
ORPHA:3319 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia, Hydronephrosis |
OMIM:300048 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Ataxia, Hepatomegaly, Abnormality of limb bone morphology, Panhypogammaglobuli... |
ORPHA:251009 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Decreased liver function, Iris hypopigmentation, Cataract, 3-Methylglutaconic ... |
ORPHA:67048 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Craniosynostosis, Severe ... |
OMIM:620005 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splen... |
OMIM:239200 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytope... |
ORPHA:2123 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... |
OMIM:606407 |
Bernard-Soulier Syndrome |
|
Asthma, Impaired ristocetin-induced platelet aggregation, Partially duplicated kidney, Hematemesi... |
ORPHA:274 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... |
OMIM:256040 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Osteopenia, Hematuria, Pedal edema, Osteolysis, Proteinuria, Abnormal myocardium mo... |
ORPHA:77259 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Hyporeflexia of lower limbs, Third degree atrioventricular block, Dil... |
OMIM:601419 |
Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Hypoparathyroidism, Hypocalcemia, Nephropathy, Brachydactyly, Hyp... |
ORPHA:1563 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Respiratory insufficiency, Hypoalbuminemia |
ORPHA:1954 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorr... |
ORPHA:3226 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Atrial se... |
OMIM:614576 |
Digeorge Syndrome |
|
Cholelithiasis, Impaired T cell function, Ventricular septal defect, Abnormality of the thymus, P... |
OMIM:188400 |
Galactokinase Deficiency |
|
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Nuclear cataract, He... |
ORPHA:79237 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... |
OMIM:618183 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Arrhythmia, Cat... |
OMIM:606069 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Small hand, Micr... |
OMIM:241410 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Micrognathia, Decreased circulating total IgM, Short middle phal... |
OMIM:251190 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impotence, Orthostatic hypotension, Tremor, Urinary retention, Erectile dysfunction, Impa... |
ORPHA:99027 |
Primary Biliary Cholangitis |
|
Abnormality of the thyroid gland, Increased circulating IgA level, Abnormal circulating lipid con... |
ORPHA:186 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Primary amenorrhea, Secondary amenorrhea, ... |
ORPHA:79239 |
Yellow Fever |
|
Supraventricular arrhythmia, Neutrophilia, Pancreatic hyperplasia, Elevated circulating aspartate... |
ORPHA:99829 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Inability to walk, Chorea, Cerebral visual impairment |
OMIM:618557 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Paroxysmal atrial tachycardia, Visual loss, Ventricul... |
ORPHA:49827 |
Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Cataract... |
ORPHA:225 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Hemophagocyto... |
OMIM:300635 |
Pediatric-Onset Graves Disease |
|
Keratitis, Graves disease, Hepatomegaly, Sinus tachycardia, Craniosynostosis, Increased circulati... |
ORPHA:525731 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypoca... |
ORPHA:352540 |
Glutamine Deficiency, Congenital |
|
Apnea, Hyperammonemia, Micromelia, Camptodactyly, Hypoglutaminemia, Neonatal respiratory distress... |
OMIM:610015 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Ataxia, Loss of ambulation, ... |
OMIM:615838 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent fever, Polyuria, Cough, Elevated circulating creatinine concentration, Periglomerular f... |
OMIM:619468 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Visual impairment |
OMIM:618476 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Intention tremor, Micrognathia, Camptodactyly of finger, Hypogonadotropic hypo... |
ORPHA:48431 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Visual field defect, Abnormality of the hepatic vasculature, Raynaud phenomenon, Hypertension, He... |
ORPHA:247691 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Cataract, Epiphy... |
OMIM:270400 |
Immunodeficiency 23 |
|
Asthma, Ataxia, Failure to thrive, Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Me... |
OMIM:615816 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abscess, Osteolysis, Pneumonia, Pericarditis, Abnormal sperm ... |
ORPHA:228123 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Pes cavus, Tremor, Cataract, Microphthalmia |
OMIM:278780 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Osteop... |
OMIM:619534 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... |
ORPHA:2134 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Hepatic failure, Malformation of |