Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... |
ORPHA:324575 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Entropion, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... |
OMIM:615113 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... |
ORPHA:276580 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Frias Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... |
ORPHA:276575 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Hypertelorism, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia... |
ORPHA:2717 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... |
ORPHA:276556 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Anencephaly 2 |
|
Anophthalmia, Short palpebral fissure |
OMIM:619452 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... |
ORPHA:49041 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis |
OMIM:616298 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... |
ORPHA:3093 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... |
OMIM:616026 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Proptosis, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... |
OMIM:231005 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... |
ORPHA:3392 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis, Highly arched eyebrow |
OMIM:608716 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate... |
OMIM:121300 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst |
OMIM:164180 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Abnormal left ventricular outflow tract morpho... |
ORPHA:402075 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Frontoocular Syndrome |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Pulmonic stenosis, Blepharophim... |
OMIM:605321 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Anophthalmia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Upslanted palpebral fi... |
ORPHA:66625 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Increased circ... |
ORPHA:37748 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryp... |
OMIM:248450 |
Anophthalmia Plus Syndrome |
|
Blepharophimosis, Eyelid coloboma, Anophthalmia, Hypertelorism |
ORPHA:1104 |
Holoprosencephaly 11 |
|
Synophrys, Proptosis, Thick eyebrow, Hypotelorism |
OMIM:614226 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis |
OMIM:611590 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Sepsis, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflam... |
ORPHA:79404 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Upslanted palpebral fissure, Proptosis |
OMIM:618492 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:615834 |
Retinal Capillary Malformation |
|
Retinal capillary hemangioma, Hyphema, Vitreous hemorrhage |
ORPHA:71213 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Go... |
OMIM:610947 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Sepsi... |
ORPHA:70587 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... |
ORPHA:542323 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Recurrent infections... |
OMIM:617056 |
Juvenile Xanthogranuloma |
|
Hyphema, Blepharitis, Proptosis |
ORPHA:158000 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concen... |
ORPHA:36238 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:411986 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Maternal diabetes,... |
ORPHA:860 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... |
OMIM:613327 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Sepsis, Incre... |
ORPHA:36234 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Tremor, Decreased circulating IgA level, Decrea... |
OMIM:617744 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:66628 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Organic aciduria, Elevated circulating creatine kin... |
OMIM:255100 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis, Ectropion |
OMIM:242500 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:179494 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy... |
ORPHA:36913 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Elevated circulating creatine ... |
OMIM:212138 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-aci... |
ORPHA:263455 |
Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis, Epistaxis |
ORPHA:289596 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal... |
ORPHA:70578 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Proteinuria, Pericardial effusion, Kyph... |
ORPHA:77259 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Gastritis, C... |
ORPHA:31826 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Pneumonia, Bronchitis, Cardiomegaly, Ventricular tachycardia... |
OMIM:601005 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification |
OMIM:203500 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Hyperglycemia, ... |
OMIM:619737 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Aorti... |
ORPHA:56 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Kleeblattschaedel |
|
Proptosis |
OMIM:148800 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Aapoaiv Amyloidosis |
|
Back pain, Paraproteinemia, Left bundle branch block, Sinus bradycardia, Elevated circulating cre... |
ORPHA:439232 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Small for... |
ORPHA:26793 |
Preeclampsia |
|
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Tachycardia, Increased circulating interleukin 6 concentration, Cy... |
ORPHA:90051 |
Developmental And Epileptic Encephalopathy 48 |
|
Long palpebral fissure, Proptosis, Long eyelashes |
OMIM:617276 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Teebi Hypertelorism Syndrome 2 |
|
Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow, Ptosis |
OMIM:619736 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Crazy paving pattern, Failure to thrive ... |
ORPHA:264675 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Upslanted palpebral fissure, ... |
ORPHA:352490 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Downslanted palpebral fissures, Proptosis |
ORPHA:157965 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG level, Tricuspid r... |
ORPHA:505248 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated creatine kinase after exercise, Cyanosis, Dicarboxylic aciduria, Elevated ... |
ORPHA:159 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocard... |
ORPHA:549 |
Tetralogy Of Fallot |
|
Proptosis |
ORPHA:3303 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... |
OMIM:208085 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Cherubism |
|
Proptosis |
ORPHA:184 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... |
ORPHA:411593 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... |
OMIM:613101 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmune thromb... |
OMIM:614470 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Hypoglycemia, Elevated c... |
OMIM:614921 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
Majeed Syndrome |
|
Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Acne, Inflammatory ab... |
ORPHA:77297 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hypert... |
ORPHA:79084 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Proptosis |
OMIM:616171 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ... |
OMIM:616733 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Sep... |
ORPHA:94093 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... |
ORPHA:340 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Graft Versus Host Disease |
|
Tachycardia, Fasciitis, Myositis, Pneumonia, Maculopapular exanthema, Inflammatory abnormality of... |
ORPHA:39812 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Trisomy 12P |
|
Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Aplasia/Hypoplasia affectin... |
ORPHA:1699 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... |
ORPHA:158061 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Hypertelorism, Proptosis, Absent extraocular muscles |
OMIM:109120 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio... |
ORPHA:251004 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
High Altitude Pulmonary Edema |
|
Tachycardia, Cyanosis, Leukocytosis, Hypoxemia, Pulmonary edema |
ORPHA:330012 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ... |
OMIM:619468 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circula... |
OMIM:209950 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Sync... |
OMIM:616260 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ... |
ORPHA:628 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Shock, Hyponatremia, Small for gestational age, Peritonitis, Leukocytosis, Neutr... |
ORPHA:391673 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... |
OMIM:617913 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... |
ORPHA:71529 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Trisomy 13 |
|
Anophthalmia, Abnormal eyelash morphology, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply s... |
ORPHA:3378 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, M... |
ORPHA:540 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... |
ORPHA:369873 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Hepatomegaly, Failure to thrive, Right ... |
ORPHA:1329 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion conce... |
ORPHA:173 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Oligosacchariduria, Delayed p... |
ORPHA:163649 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Proptosis... |
OMIM:613174 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow |
OMIM:619451 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, A... |
ORPHA:141099 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618577 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Proptosis, Hypertelorism |
OMIM:612247 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Developmental And Epileptic Encephalopathy 75 |
|
Upslanted palpebral fissure, Cardiomyopathy, Proptosis, Hypertelorism |
OMIM:618437 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Sepsis, H... |
ORPHA:292 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Renal salt wastin... |
ORPHA:95409 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Pontocerebellar Hypoplasia, Type 3 |
|
Long palpebral fissure, Proptosis |
OMIM:608027 |
Jackson-Weiss Syndrome |
|
Hypertelorism, Proptosis, Ptosis |
ORPHA:1540 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Angular cheilitis, Pancytopenia, Me... |
ORPHA:35858 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Hypotelorism |
OMIM:147250 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Tremor, Hemolytic... |
OMIM:274150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Congestive heart fa... |
OMIM:619048 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Muenke Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis |
ORPHA:2370 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra... |
OMIM:206920 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Distal symphalangism, Elevated circulating creatinine concentration, Increased b... |
OMIM:154230 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Upslanted palpebral fissure, Deeply set eye, Proptosis |
OMIM:618707 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Renal salt wasting, Hyperkalemia, Hyperactive ren... |
OMIM:264350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... |
OMIM:243700 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Prem... |
OMIM:616878 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Vascular Malformation, Primary Intraosseous |
|
Proptosis, Gingival bleeding |
OMIM:606893 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Anemia |
OMIM:184850 |
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 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Lymphocytosis, Microscopic hematuria |
ORPHA:79087 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypog... |
ORPHA:348 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestiv... |
ORPHA:49827 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, M... |
ORPHA:335 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Downslanted palpebral fissures |
OMIM:618821 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Proptosis, Ptosis |
ORPHA:93262 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short neck, Diaphyseal scleros... |
ORPHA:94089 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Skin rash, Increased total bili... |
ORPHA:90036 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... |
OMIM:615605 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Elevated circulatin... |
OMIM:223900 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Sepsis, Hashimoto thyroiditis, Hyponatre... |
ORPHA:199299 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem... |
ORPHA:466677 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... |
ORPHA:3261 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
Trisomy 1Q |
|
Hypertelorism, Anophthalmia, Downslanted palpebral fissures, Hypotelorism |
ORPHA:261344 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Pulmonary edema, Myocarditis, Leukocytosis, Oliguria, Weight l... |
ORPHA:188 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... |
OMIM:614856 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Raynaud phenom... |
ORPHA:247691 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Acrofrontofacionasal Dysostosis 2 |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:239710 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Crouzon Syndrome |
|
Hypertelorism, Proptosis, Conjunctivitis, Ptosis |
ORPHA:207 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating creatinine concentra... |
OMIM:608104 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... |
ORPHA:95455 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis |
ORPHA:85172 |
Donnai-Barrow Syndrome |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:2143 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of the lung, Recurrent hypoglycemia,... |
ORPHA:2126 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Cyanosis, Heart murmur, Coarctation of aorta, Hypocalcemia, Pulm... |
ORPHA:3426 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Nephropathy, Elevated c... |
ORPHA:29073 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia |
ORPHA:35 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Long eyelashes, Microphthalmia, Cryptophthalmos |
OMIM:615877 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
Hereditary Renal Hypouricemia |
|
Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild... |
ORPHA:94088 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell... |
OMIM:301078 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Aspiration pneumonia |
ORPHA:79264 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Desmosterolosis |
|
Increased bone mineral density, Renal agenesis, Abnormal cortical gyration, Renal hypoplasia/apla... |
ORPHA:35107 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve... |
OMIM:618986 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Atrial flutter, Abnormal EKG, Tachycardia, Atrial fibrillation,... |
ORPHA:980 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Foot joint contracture, Proteinuria, Tremor, Uveitis, Hypertension, Conjunct... |
ORPHA:90321 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Proptosis, Hypertelorism |
ORPHA:1914 |
Cystinosis, Nephropathic |
|
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... |
OMIM:219800 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Muenke Syndrome |
|
Hypertelorism, Proptosis, Ptosis |
ORPHA:53271 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Glomerulopa... |
ORPHA:1764 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Deeply set eye |
ORPHA:2189 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Proptosis |
ORPHA:1425 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Hyponatremia, Myocardial infar... |
ORPHA:3452 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mell... |
ORPHA:280365 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti... |
OMIM:615934 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Anophthalmia, Hypertelorism, Proptosis, Downslanted palpebral fi... |
ORPHA:264200 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Hematochezia, Prop... |
ORPHA:261311 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... |
OMIM:251000 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin, Blepharitis |
OMIM:617718 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Mitral valve calcification, Calcification of the aorta, Bacterial end... |
ORPHA:2072 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Hemorrhage of the eye, Macular hypoplasia |
ORPHA:91495 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Proptosis, Telecanthus, Hypertelorism |
OMIM:263210 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Nocturia, Increased blood urea nitrogen, Hypomagnes... |
OMIM:223360 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Long eyelashes, Ptosis |
OMIM:617190 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia,... |
ORPHA:99828 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Proptosis, Ptosis |
ORPHA:1185 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, Aortic valve stenosis, Osteopetrosis, Scoliosis, F... |
ORPHA:2780 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Synophrys, Upslanted palpebral fissure, Proptosis, Long eyelashes, Downslanted pal... |
OMIM:620250 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Micropenis |
OMIM:613870 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosi... |
ORPHA:20 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Abnormal pericardium morpholo... |
ORPHA:35687 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Macroscopic hematuria, Elevated circulating creatinine concentratio... |
ORPHA:79233 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Proptosis |
ORPHA:2774 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia... |
OMIM:263800 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Congestive ... |
ORPHA:528 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa... |
OMIM:235200 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Aortic valve calcification,... |
ORPHA:740 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Elevated circulating alpha... |
OMIM:613095 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, H... |
ORPHA:134 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... |
ORPHA:90791 |
Prolidase Deficiency |
|
Hypertelorism, Diffuse telangiectasia, Proptosis, Petechiae, Ptosis |
OMIM:170100 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Rickets, Osteomalacia |
ORPHA:89937 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Proptosis, Ptosis |
ORPHA:2522 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of... |
ORPHA:369837 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:300257 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Andersen-Tawil Syndrome |
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Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Tyshchenko Syndrome |
|
Proptosis, Pulmonic stenosis, Ptosis |
OMIM:615102 |
Familial Exudative Vitreoretinopathy |
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Microphthalmia, Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Eczema, Thro... |
OMIM:606054 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Atelis Syndrome 2 |
|
Epicanthus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Microphthalmi... |
OMIM:620185 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun... |
ORPHA:2394 |
Atypical Werner Syndrome |
|
Aortic valve calcification, Mitral valve prolapse, Subcutaneous calcification, Aortic valve steno... |
ORPHA:79474 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... |
ORPHA:464329 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... |
OMIM:120330 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Atopic derma... |
ORPHA:3240 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Hypertelorism, Sparse eyebrow... |
OMIM:605627 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, Th... |
ORPHA:139402 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Impaired glucose tolerance, Atrioventricular block, Simplified gyral pattern, ... |
OMIM:614407 |
Wyburn-Mason Syndrome |
|
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Proptosis, Gingival bleeding |
ORPHA:53719 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension |
ORPHA:363400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Proptosis, Hypertelorism |
OMIM:618354 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Prop... |
ORPHA:3339 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... |
OMIM:609152 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Chronic pancreat... |
OMIM:232240 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Frequent Giardia lamblia infestation, Hypoglycemia, Psoriasiform... |
OMIM:615577 |
Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating... |
ORPHA:319213 |
Holoprosencephaly |
|
Epicanthus, Anophthalmia, Cyclopia, Highly arched eyebrow, Hypertelorism, Synophrys, Hypotelorism... |
ORPHA:2162 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Distal Deletion 9P |
|
Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism |
ORPHA:1642 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Poems Syndrome |
|
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Pericardial effusion, Sclerosis o... |
ORPHA:2905 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bilateral ptosis, Synophrys, Deeply set eye, Proptosis, Bradycardia, Dow... |
OMIM:620351 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis, Hypotension |
ORPHA:99825 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Conges... |
OMIM:261740 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proptosis |
OMIM:166300 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Werner Syndrome |
|
Renal neoplasm, Increased bone mineral density, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:902 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Intellectual Disability-Strabismus Syndrome |
|
Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
Periventricular Nodular Heterotopia 7 |
|
Deeply set eye, Proptosis, Hypertelorism |
OMIM:617201 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Conjunctivitis |
ORPHA:90322 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Spinocerebellar Ataxia Type 3 |
|
Proptosis |
ORPHA:98757 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ch... |
ORPHA:1667 |
Ogden Syndrome |
|
Proptosis, Cardiogenic shock, Arrhythmia, Downslanted palpebral fissures, Aplasia/Hypoplasia of t... |
ORPHA:276432 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:485405 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Hyperlordosis, Generalized osteosclerosis, Kyphosis... |
ORPHA:763 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the... |
OMIM:208900 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentration, Sep... |
ORPHA:33475 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short neck, Reduced bone miner... |
ORPHA:79443 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... |
OMIM:613873 |
Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Hypotelorism, Deeply set eye, Proptosis, Downslanted palpebral fissures |
OMIM:619435 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Hyphema |
OMIM:221900 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Epicanthus, Hypertelorism, Synophrys, Mitral regurgitation, Proptosis, Arrh... |
ORPHA:254346 |
Thanatophoric Dysplasia |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2655 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopath... |
OMIM:614702 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Proptosis |
OMIM:275000 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, F... |
OMIM:203400 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Tremor, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horseshoe k... |
ORPHA:94063 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy... |
ORPHA:79276 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Increased skull ossification, Cr... |
OMIM:618476 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Adrenal hypoplasia, ... |
OMIM:617053 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient h... |
ORPHA:156 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I... |
ORPHA:71212 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly |
OMIM:619858 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis, Ptosis |
ORPHA:1323 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short neck, Hyperphosphatemia,... |
ORPHA:79444 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... |
ORPHA:534 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Short neck, Wrist flexion contracture, Abnorm... |
ORPHA:800 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Hypertelorism, Congestive ... |
ORPHA:363705 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Mitral regurgitat... |
ORPHA:1101 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Hypertelorism |
OMIM:618961 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circula... |
OMIM:612301 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent... |
ORPHA:183675 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithias... |
OMIM:232220 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Proptosis |
OMIM:617481 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... |
ORPHA:79106 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Precocious atherosclerosis, Bone-marrow foam cells, Renal salt wasting, Va... |
ORPHA:275761 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Cenani-Lenz Syndrome |
|
Ptosis, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ectropion |
ORPHA:3258 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis |
OMIM:618005 |
Retinoblastoma |
|
Vitreous hemorrhage, Proptosis, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Filippi Syndrome |
|
Proptosis |
OMIM:272440 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitatio... |
ORPHA:100080 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... |
ORPHA:2260 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperk... |
ORPHA:423 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Acn... |
ORPHA:90794 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Proptosis, Thick eyebrow, Hypertelorism |
OMIM:614800 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken... |
ORPHA:1798 |
Caffey Disease |
|
Proptosis |
ORPHA:1310 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... |
ORPHA:79237 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:26791 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:618321 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematemesis, Increased circulat... |
ORPHA:100075 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat... |
ORPHA:90060 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hyper... |
OMIM:617253 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Abnormal eyelid morphology, Congestive heart failure, Hypertension, Proptosi... |
ORPHA:525731 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Stickler Syndrome Type 1 |
|
Proptosis |
ORPHA:90653 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... |
OMIM:224300 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:43116 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... |
OMIM:601214 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphocytosis, Hypotension,... |
ORPHA:79456 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Shigellosis |
|
Sepsis, Uveitis, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, Acute colit... |
ORPHA:810 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropeni... |
OMIM:241410 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... |
ORPHA:427 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Cole-Carpenter Syndrome 2 |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:616294 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Hypotension, Telangiectasia macularis erupti... |
ORPHA:79455 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang... |
OMIM:617575 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolem... |
ORPHA:31824 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Mele... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Mele... |
ORPHA:100082 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly... |
ORPHA:90652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Bainbridge-Ropers Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply ... |
OMIM:615485 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Cole-Carpenter Syndrome 1 |
|
Proptosis, Orbital craniosynostosis, Shallow orbits |
OMIM:112240 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper... |
OMIM:201910 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Proptosis, Abnormal shape of the palpebral fissure, Downslanted palp... |
ORPHA:363659 |
Aminopterin/Methotrexate Embryofetopathy |
|
Epicanthus, Proptosis, Hypertelorism |
ORPHA:1908 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Crouzon Syndrome |
|
Hypertelorism, Proptosis, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Abnormal macrophage morphology |
ORPHA:353 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis |
OMIM:618346 |
Optic Pathway Glioma |
|
Proptosis |
ORPHA:2086 |
Chitayat Syndrome |
|
Proptosis, Hypertelorism |
OMIM:617180 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Hypokalemia, Long penis, Increased C-peptide level |
ORPHA:769 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:222448 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate... |
OMIM:115310 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... |
OMIM:241530 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leuk... |
ORPHA:90038 |
Antley-Bixler Syndrome |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:83 |
Lateral Meningocele Syndrome |
|
Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2789 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infecti... |
ORPHA:83317 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Hypotension, Mastocytosis, Arrhythmia, Failure to thrive |
ORPHA:2135 |
Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Ventricular tachycardia, Iron deficiency anemia, Supraventricula... |
OMIM:300855 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Decreased serum testosterone concentration, Tachycardia, Streak ovary, Hyp... |
ORPHA:1772 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Desmosterolosis |
|
Generalized osteosclerosis, Patent ductus arteriosus, Abnormal circulating cholesterol concentrat... |
OMIM:602398 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary a... |
ORPHA:3384 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertelorism, Hypertension, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:1555 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anemia, Hypertension, Pheochromocytoma, Adrenocortical ... |
ORPHA:139411 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
Plague |
|
Hepatomegaly, Tachycardia, Chapped lip, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis, Eryt... |
ORPHA:707 |
Microphthalmia, Syndromic 9 |
|
Blepharophimosis, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure |
OMIM:615803 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis |
OMIM:618541 |
Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor |
OMIM:612736 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab... |
ORPHA:2526 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Patchy osteosclerosis, Spinal canal stenos... |
ORPHA:2323 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... |
OMIM:616005 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Hypertelorism, Synophrys, Proptosis, Microphthalmia, Downslanted palpebral fissures, ... |
ORPHA:251014 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal midbrain morphology |
ORPHA:280195 |
Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis |
OMIM:260400 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Keratoconjunctivitis sicca, Deeply set eye, Proptosis, Bruising susceptibility, Dow... |
OMIM:616914 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Abnormal pulmonary valve morphology, Craniosynostosis, Recurren... |
ORPHA:667 |
Pycnodysostosis |
|
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... |
OMIM:265800 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
Hypomandibular Faciocranial Dysostosis |
|
Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures |
ORPHA:1790 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Joubert Syndrome 21 |
|
Hypertelorism, Anophthalmia, Ptosis |
OMIM:615636 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Proptosis, Shallow orbits |
OMIM:619322 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Machado-Joseph Disease |
|
Proptosis, Ptosis |
OMIM:109150 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pul... |
ORPHA:1686 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis |
OMIM:257200 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Congen... |
OMIM:619488 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Short neck, Subperiosteal bone formation, Hypophosph... |
OMIM:259775 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Proptosis, Hypertelorism |
OMIM:616038 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu... |
ORPHA:544482 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypertelorism, Proptosis, Portal hypertension, Ptosis |
OMIM:613385 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Leprechaunism |
|
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl... |
ORPHA:508 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Marshall-Smith Syndrome |
|
Bruising susceptibility, Proptosis, Hypertelorism |
ORPHA:561 |
Developmental And Epileptic Encephalopathy 80 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:618580 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic... |
ORPHA:79319 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... |
OMIM:613179 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... |
ORPHA:79644 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Cole-Carpenter Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2050 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Proptosis, Hypertelorism |
OMIM:602482 |
Atelosteogenesis Type I |
|
Telecanthus, Proptosis, Hypertelorism |
ORPHA:1190 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Gout, Hypertension, Foc... |
OMIM:232200 |
Cherubism |
|
Lower eyelid retraction, Proptosis |
OMIM:118400 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Hypertelorism, Absent eyelashes, Proptosis, Pulmonic stenosis, Palpeb... |
OMIM:115150 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Kyphosis, Epispadias, Cra... |
ORPHA:2658 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Fibrochondrogenesis |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:2021 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618529 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Hypoglycemia, Congestive heart failure, Dilated cardiomyopathy, Hypertroph... |
OMIM:611126 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:611209 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Distal Deletion 10Q |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures |
ORPHA:96148 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Telecanthus, Proptosis |
OMIM:615789 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypotelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2215 |
Thanatophoric Dysplasia Type 2 |
|
Proptosis |
ORPHA:93274 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex |
ORPHA:75508 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Microhydranencephaly |
|
Proptosis |
OMIM:605013 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... |
ORPHA:2968 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgenesis |
OMIM:267430 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Hypertelorism, Absent eyelashes, Bilateral microphthalmos, Upper ey... |
OMIM:219000 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:73230 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Hypertelorism, Eyelid coloboma, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Proptosis, Shallow orbits, Pulmonary arterial hype... |
OMIM:620029 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Upslanted palpebral fissure, Proptosis |
OMIM:619234 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Hyperostosis Cranialis Interna |
|
Proptosis |
OMIM:144755 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Sepsis, Abnormal left ventricular function, Leukopenia, Aminoaci... |
OMIM:619991 |
Lowry-Maclean Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2409 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Loeys-Dietz Syndrome 5 |
|
Hypertelorism, Mitral regurgitation, Proptosis, Long palpebral fissure, Bruising susceptibility, ... |
OMIM:615582 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra... |
OMIM:308230 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Polycystic ovaries, Type II diabetes m... |
ORPHA:3085 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... |
OMIM:264700 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... |
ORPHA:331206 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Lymphopenia, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomeno... |
ORPHA:93552 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Marshall Syndrome |
|
Sparse eyebrow, Proptosis, Sparse eyelashes, Hypertelorism |
ORPHA:560 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Proptosis, Telangiectasia of the skin |
OMIM:615381 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Tricuspid regurgitation, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:616894 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hyphema, Retinal arteritis |
ORPHA:209959 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyper... |
ORPHA:254892 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Recurrent infections, Ovarian cyst, Pancreatic ... |
OMIM:246200 |
Cinca Syndrome |
|
Proptosis |
OMIM:607115 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Increased... |
OMIM:232300 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Chops Syndrome |
|
Hypertelorism, Synophrys, Proptosis, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Pulmonic stenosis, Aortic valve stenosis, Pate... |
OMIM:614823 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertelorism, Hypertension, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Kniest Dysplasia |
|
Bilateral ptosis, Aplasia/Hypoplasia of the lens, Proptosis |
ORPHA:485 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Abnormal nasolacrimal system morphology, Anophthalmia, Abnormal eyelid m... |
ORPHA:2556 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
Bohring-Opitz Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism |
OMIM:605039 |
Chromosome 5Q12 Deletion Syndrome |
|
Decreased body mass index, Hypotension |
OMIM:615668 |
Congenital Myopathy 17 |
|
Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:618975 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:235255 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Iron deficiency a... |
ORPHA:100078 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Xylt1-Cdg |
|
Synophrys, Proptosis |
ORPHA:370930 |
Shprintzen-Goldberg Syndrome |
|
Telecanthus, Hypertelorism, Mitral regurgitation, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2462 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocardi... |
ORPHA:50918 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Frontal polymicrogyria, Elongated superior cerebellar peduncle, Lateral ... |
OMIM:608629 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otit... |
ORPHA:178478 |
Apert Syndrome |
|
Hypertension, Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:87 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hypertension, Mitral regurgitation, ... |
OMIM:614008 |
Mirizzi Syndrome |
|
Dark urine, Tachycardia, Pancreatitis, Hyperbilirubinemia |
ORPHA:521219 |
Baller-Gerold Syndrome |
|
Hypertelorism, Epicanthus, Proptosis, Hypotelorism |
ORPHA:1225 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures, Ptosis |
OMIM:182212 |
Premature Aging Syndrome, Penttinen Type |
|
Hypertelorism, Hypotelorism, Proptosis, Shallow orbits, Microphthalmia |
OMIM:601812 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Rickets |
OMIM:607765 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Proptosis, Long eyelashes, Hypertelorism |
ORPHA:2008 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Hypertelorism, Abnormal eyelash morphology, Abnormal eye... |
ORPHA:2671 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Cinca Syndrome |
|
Proptosis, Purpura |
ORPHA:1451 |
Desbuquois Dysplasia 2 |
|
Epicanthus, Synophrys, Proptosis |
OMIM:615777 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Craniosynostosis 4 |
|
Proptosis, Optic nerve hypoplasia, Hypertelorism |
OMIM:600775 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Splenomegaly |
OMIM:617767 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Eyelid coloboma, Proptosis, Limbal dermoid, Hypertrophic c... |
OMIM:600268 |
Inhalational Anthrax |
|
Internal hemorrhage, Sepsis, Hypotension |
ORPHA:247257 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... |
OMIM:194050 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... |
ORPHA:2785 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:616331 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Gray matter heterotopia |
OMIM:617622 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hypertelorism, Abnormally large globe, Proptosis, Downslanted palpebral fissures, Thick eyebrow |
OMIM:245600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hypertelorism, Synophrys, Nasolacrimal duct obstruction, Deeply set eye, Proptosis, Downslanted p... |
OMIM:300966 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Hypospadias, Obesity, Hypotension |
ORPHA:439822 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Portal hypertension, Ptosis |
ORPHA:228426 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis |
ORPHA:440354 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Proptosis, ... |
ORPHA:163979 |
Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Proptosis |
ORPHA:90153 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Telangiectasia of the skin, Skin ras... |
ORPHA:2909 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Proptosis |
ORPHA:1865 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Polymicrogyria |
OMIM:617757 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fiss... |
OMIM:617011 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... |
OMIM:115197 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Dilated cardio... |
OMIM:610768 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis |
OMIM:617895 |
H Syndrome |
|
Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Upper eyelid edema, Propt... |
ORPHA:168569 |
Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractilit... |
ORPHA:79102 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ... |
OMIM:618885 |
Charge Syndrome |
|
Epicanthus, Anophthalmia, Highly arched eyebrow, Hypertelorism, Eyelid coloboma, Microphthalmia, ... |
ORPHA:138 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis |
OMIM:212750 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex |
OMIM:230600 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Hypertelorism, Proptosis, Arrhythmia, Downslanted palpebral fissures, Thic... |
ORPHA:1519 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Desbuquois Dysplasia 1 |
|
Proptosis |
OMIM:251450 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypothyroidism, Hypertension, Hypote... |
ORPHA:58 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... |
OMIM:269700 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Congenital Myopathy 22B, Severe Fetal |
|
Deeply set eye, Synophrys, Proptosis, Downslanted palpebral fissures |
OMIM:620369 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Anemia |
OMIM:619113 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... |
OMIM:608594 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Weight loss, Lymphocyto... |
ORPHA:514 |
Prader-Willi Syndrome Due To Translocation |
|
Hypertelorism, Almond-shaped palpebral fissure, Hypotelorism, Upslanted palpebral fissure, Deeply... |
ORPHA:177907 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Hypotelorism, Upslanted palpebral fissure, Abno... |
ORPHA:468631 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Proptosis, Mitral regurgitation, Hypertelorism |
ORPHA:457395 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Laterally curved eyebrow, Pulmonic stenosis, Blepharophimosis, Microphthalmia, Aort... |
OMIM:300166 |
Noonan Syndrome |
|
Abnormal bleeding, Hypertelorism, Proptosis, Arrhythmia, Downslanted palpebral fissures, Ptosis |
ORPHA:648 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Hypotelorism |
OMIM:610829 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Localized Scleroderma |
|
Raynaud phenomenon, Vasculitis, Deeply set eye, Proptosis, Arrhythmia |
ORPHA:90289 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Shallow orbits, Downslante... |
ORPHA:457359 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... |
OMIM:119600 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Hypertelorism, Narrow palpebral fissure, Proptosis, Bradycardia, Pulmonary insufficiency, Downsla... |
OMIM:614437 |
Frank-Ter Haar Syndrome |
|
Hypertelorism, Abnormally large globe, Buphthalmos, Proptosis, Downslanted palpebral fissures |
OMIM:249420 |
Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Curly eyelashes, Hypertelorism, Upslanted palpebral fissure, Euryblepharon, Long eyel... |
ORPHA:3107 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Branchioskeletogenital Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Blepharochalasis, Eyelid coloboma, ... |
ORPHA:1299 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H... |
ORPHA:466650 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227990 |
Fraser Syndrome |
|
Anophthalmia, Hypertelorism, Lacrimal duct aplasia, Malformed lacrimal duct, Microphthalmia, Cryp... |
ORPHA:2052 |
Melnick-Needles Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2484 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long eyelashes, Long palpebral... |
ORPHA:1507 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints, Platyspondyly |
ORPHA:50945 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Cyanosis, Hepatomegaly, R... |
ORPHA:99125 |
Mccune-Albright Syndrome |
|
Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibr... |
ORPHA:562 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Hypoglycemia, Skin rash, Hepatitis, Hyperammonemia, Intracran... |
ORPHA:90062 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Otospondylomegaepiphyseal Dysplasia |
|
Proptosis |
ORPHA:1427 |
Fanconi Anemia |
|
Epicanthus, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hypertelorism, Upslanted... |
ORPHA:84 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hypertelorism |
ORPHA:564 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Hematochezia, Mel... |
ORPHA:73263 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Thanatophoric Dysplasia Type 1 |
|
Proptosis |
ORPHA:1860 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Micropenis |
OMIM:617402 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Hypertelorism, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Proptosis |
ORPHA:3063 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:617562 |
Prolidase Deficiency |
|
Proptosis, Hypertelorism |
ORPHA:742 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
Keppen-Lubinsky Syndrome |
|
Proptosis, Abnormally large globe, Shallow orbits |
OMIM:614098 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614815 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic... |
ORPHA:51608 |
Kniest Dysplasia |
|
Proptosis |
OMIM:156550 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hypertelorism, Proptosis, Pulmonic stenosis, Downslanted palpebral fissures |
OMIM:222470 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227982 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Premature ventricular contraction, Hype... |
OMIM:602535 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:221139 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Machado-Joseph Disease Type 1 |
|
Proptosis |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Proptosis |
ORPHA:276241 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Partial anomalous pulmonary venous return, Enlarged kidney, Pulmon... |
OMIM:618280 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Proptosis |
ORPHA:370348 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Cornelia De Lange Syndrome 1 |
|
Highly arched eyebrow, Curly eyelashes, Synophrys, Proptosis, Long eyelashes, Ptosis |
OMIM:122470 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Proptosis, Pulmonic stenosis, Facial telangiectasia, Pulmonary arterial hypertension, Downslanted... |
OMIM:602782 |
Meester-Loeys Syndrome |
|
Bruising susceptibility, Downslanted palpebral fissures, Proptosis, Hypertelorism |
OMIM:300989 |
Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Apert Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Shallow orbits |
OMIM:101200 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Hypertelorism, Hyphema, Deeply set eye, Pulmonic ... |
ORPHA:261552 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro... |
OMIM:233450 |
Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper eyelid edema, Deeply set eye, Pr... |
OMIM:616268 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Absent eyebrow, Proptosis |
ORPHA:85199 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Congestive heart failure, Synophrys, Proptosis, Long eyelashes, Pulmonary ... |
ORPHA:444077 |
Osteoglophonic Dysplasia |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures |
OMIM:166250 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis... |
OMIM:608612 |
Machado-Joseph Disease Type 3 |
|
Proptosis |
ORPHA:276244 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations,... |
ORPHA:100079 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... |
OMIM:608233 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic nerve hypoplasia, Hypertelorism, Proptosis, Pulmonic stenosis, Aortic valve stenosis, Downs... |
ORPHA:536471 |
Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:257220 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Hypertelorism, Abnormal eyelash morphology, Upslanted palpebral fissure, Proptosis, A... |
ORPHA:818 |
Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis |
OMIM:215150 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Precocious puberty, In... |
ORPHA:786 |
Keppen-Lubinsky Syndrome |
|
Proptosis, Abnormally large globe, Shallow orbits |
ORPHA:435628 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... |
OMIM:620066 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... |
ORPHA:356961 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Renal p... |
ORPHA:3337 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Premature ventricular contraction |
OMIM:617072 |
Microphthalmia With Limb Anomalies |
|
Blepharophimosis, Abnormal eyebrow morphology, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Alg9-Cdg |
|
Telecanthus, Tricuspid regurgitation, Hypertelorism, Proptosis, Shallow orbits |
ORPHA:79328 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Highly arched eyebrow, Hypertelorism, Mitral regurgitation, Proptosis |
ORPHA:309282 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Co... |
OMIM:617156 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Saul-Wilson Syndrome |
|
Proptosis |
OMIM:618150 |
Branchiooculofacial Syndrome |
|
Telecanthus, Anophthalmia, Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fiss... |
OMIM:113620 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac... |
OMIM:102700 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... |
ORPHA:221008 |
Sclerosteosis 1 |
|
Proptosis, Hypertelorism |
OMIM:269500 |
Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Hypospadias, Hydrour... |
OMIM:269150 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Hypertelorism, Proptosis, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:208150 |
Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Entropion, Sparse eyelashes, Hypertelorism, Absent eyelashes, Sparse eyebrow, Hyp... |
OMIM:264090 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block, Proptosis, Thin eyebrow |
OMIM:617063 |
Yunis-Varon Syndrome |
|
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Bilateral microphthalmos, Renovascular hypertens... |
ORPHA:3472 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... |
OMIM:612541 |
Fibrochondrogenesis 1 |
|
Proptosis |
OMIM:228520 |
Pseudoaminopterin Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Proptosis, Blepharophimosis |
ORPHA:221120 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
Bohring-Opitz Syndrome |
|
Synophrys, Proptosis, Bradycardia, Hypertelorism |
ORPHA:97297 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Conjunctivitis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Hypertelorism, Downslanted palpebral fissures, Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Thick eyebrow, Palpebral edema, Hypertelorism, Congestive heart failure, Sy... |
OMIM:619475 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:280 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Hypertelorism, Synophrys, Proptosi... |
OMIM:612289 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Catel-Manzke Syndrome |
|
Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Proptosis, Thin eyebrow |
OMIM:616145 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Right ventricular outlet tract obstructio... |
OMIM:180700 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
Charge Syndrome |
|
Anophthalmia, Hypertelorism, Unilateral microphthalmos, Pulmonic stenosis, Microphthalmia, Downsl... |
OMIM:214800 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... |
ORPHA:221016 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Proptosis, Hypertelorism |
OMIM:619727 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... |
ORPHA:48435 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... |
OMIM:610688 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Proptosis |
OMIM:207410 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior pituitary h... |
ORPHA:90695 |
Okamoto Syndrome |
|
Hypertelorism, Abnormally large globe, Proptosis, Long palpebral fissure, Aortic valve stenosis, ... |
ORPHA:2729 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Highly arched eyebrow, Hypertelorism, Nasolacrimal duct obstruction, D... |
OMIM:180849 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Deeply set eye, Proptosis |
ORPHA:508533 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Sinusitis, Abnormal midbrain morpholo... |
ORPHA:68 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... |
OMIM:277900 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Niemann-Pick Disease, Type C2 |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:607625 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Proptosis, Hypertelorism |
OMIM:259600 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Familial Gestational Hyperthyroidism |
|
Proptosis |
ORPHA:99819 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Hypertelorism, Absent eyelashes, Proptosis, Microphthalmia, Pterygium |
OMIM:256520 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Glucose intolerance, Inflam... |
ORPHA:881 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Hypogonadotropic hypogonadism, De... |
OMIM:176270 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Japanese Encephalitis |
|
Neutrophilia, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of ante... |
ORPHA:79139 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... |
OMIM:609049 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Discoid lupus rash, C... |
ORPHA:536 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Sparse eyebrow, Mitral regurgitation, Proptosis, Shallow orbits |
OMIM:619127 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis |
ORPHA:424 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Proptosis |
ORPHA:536467 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
ORPHA:90154 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ... |
OMIM:613658 |
Atelosteogenesis, Type I |
|
Proptosis, Hypertelorism |
OMIM:108720 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... |
OMIM:248370 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Keratoconjunctivitis sicca, Deeply set e... |
ORPHA:90324 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Elsahy-Waters Syndrome |
|
Hypertelorism, Synophrys, Proptosis, Downslanted palpebral fissures, Thick eyebrow |
OMIM:211380 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt... |
OMIM:222700 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220497 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia, Telangiectasia |
OMIM:305600 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Roberts Syndrome |
|
Microphthalmia, Proptosis, Hypertelorism |
ORPHA:3103 |
Trichinellosis |
|
Conjunctival hyperemia, Conjunctivitis, Retinal hemorrhage |
ORPHA:863 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Gray matter heterotopia |
OMIM:617563 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Micr... |
ORPHA:464 |
Stickler Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Proptosis, Arrhythmia |
ORPHA:828 |
Listeriosis |
|
Brain abscess, Stiff neck, Liver abscess, Osteomyelitis, Abscess, Abnormal cellular immune system... |
ORPHA:533 |
Cerebrotendinous Xanthomatosis |
|
Proptosis, Abnormal eyelid morphology |
ORPHA:909 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Orbital cyst |
OMIM:607932 |
Mullegama-Klein-Martinez Syndrome |
|
Proptosis, Curly eyelashes |
OMIM:301022 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI |
OMIM:619185 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Hypertelorism, Renovascular hypertension, Hypertension, Deeply set ey... |
ORPHA:97685 |
Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Rieger anomaly, Highly arched eyebrow, Hypertelorism, Proptosis, Ptosis |
OMIM:194190 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior pituitary h... |
ORPHA:95494 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec... |
OMIM:619573 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220493 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Telangiectasia of the skin... |
ORPHA:286 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Proptosis, Hypertelorism |
OMIM:309350 |
Neurofibromatosis Type 1 |
|
Lisch nodules, Proptosis, Hypertension, Abnormal eyelid morphology |
ORPHA:636 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Retinal hamartoma, Hypertelorism, Buphthalmos, Proptosi... |
ORPHA:744 |
Osteogenesis Imperfecta, Type Viii |
|
Proptosis |
OMIM:610915 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolit... |
ORPHA:137605 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating g... |
ORPHA:79318 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Proptosis |
ORPHA:93315 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Downslanted palpebral fissures, Proptosis, Thin eyebrow |
ORPHA:2636 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage |
OMIM:308300 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Junctional ectopic tachycardia, Micropenis, Chordee, Histiocytoid ... |
OMIM:309801 |
Isolated Exencephaly |
|
Proptosis |
ORPHA:563612 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Microphthalmia, Ptosis |
OMIM:164210 |
Joubert Syndrome 2 |
|
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... |
OMIM:608091 |
Meningioma |
|
Syncope, Proptosis, Cerebral hemorrhage |
ORPHA:2495 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Abnormality of neuronal migration |
ORPHA:2318 |
Schinzel-Giedion Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:798 |
Robinow Syndrome |
|
Proptosis, Pulmonic stenosis, Hypertelorism |
ORPHA:97360 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Congestive heart failure, Arrhythmia, Proptosis, Conjunctivitis |
OMIM:256040 |
Lysinuric Protein Intolerance |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Decreased circulating antibody level, Hepatosplenomeg... |
ORPHA:470 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Proptosis, Hypertelorism |
OMIM:130070 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Mitral regurgitation, Proptosis |
OMIM:271640 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Holoprosencephaly 2 |
|
Microphthalmia, Cyclopia, Proptosis, Hypotelorism |
OMIM:157170 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:614424 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent viral infections |
ORPHA:811 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly... |
OMIM:619381 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... |
ORPHA:171 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Lateral ventricle dilatation, Molar tooth sign on MRI, Elongated superior cerebella... |
ORPHA:397715 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Hypertension, Proptosis, Sparse eyelashes |
OMIM:210710 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Coach Syndrome 1 |
|
Molar tooth sign on MRI, Splenomegaly |
OMIM:216360 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Proptosis |
OMIM:210730 |
Viss Syndrome |
|
Ptosis, Epidural hemorrhage, Hypertelorism, Deeply set eye, Proptosis, Long palpebral fissure, Pu... |
OMIM:619472 |
Craniosynostosis And Dental Anomalies |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:614188 |
Duplication Of The Pituitary Gland |
|
Agenesis of corpus callosum, Abnormal midbrain morphology |
ORPHA:314621 |
Cockayne Syndrome |
|
Retinal hemorrhage, Hypertension, Keratoconjunctivitis sicca, Deeply set eye, Microphthalmia |
ORPHA:191 |
Joubert Syndrome 1 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cer... |
OMIM:213300 |
Roberts-Sc Phocomelia Syndrome |
|
Hypertelorism, Eyelid coloboma, Proptosis, Shallow orbits, Microphthalmia, Downslanted palpebral ... |
OMIM:268300 |
Orofaciodigital Syndrome Type 4 |
|
Proptosis, Hypertelorism |
ORPHA:2753 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Periventricular nodular heterotopia, Polymicrogyria, Agenesis of corpus ... |
OMIM:277170 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Camurati-Engelmann Disease |
|
Hypertrophic cardiomyopathy, Proptosis |
ORPHA:1328 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot... |
OMIM:619895 |
Loeys-Dietz Syndrome 1 |
|
Proptosis, Hypertelorism |
OMIM:609192 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Accessory spleen |
OMIM:619306 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Arima Syndrome |
|
Brainstem dysplasia, Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign on MR... |
OMIM:243910 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Mitral valve calcification |
ORPHA:363618 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Ptosis |
OMIM:309800 |
Yunis-Varon Syndrome |
|
Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Heart murmur, Upslanted palpebral fi... |
OMIM:216340 |
Loeys-Dietz Syndrome 3 |
|
Atrial fibrillation, Subarachnoid hemorrhage, Hypertelorism, Mitral regurgitation, Proptosis, Pul... |
OMIM:613795 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Abnormality of neuronal migration |
ORPHA:2754 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Polymicrogyria |
OMIM:616546 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Proptosis |
ORPHA:116 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Calcification of the aorta, Gonadal calcification, Stippled calcifica... |
ORPHA:60025 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Proptosis, Hypertelorism |
OMIM:271665 |
Loeys-Dietz Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:610168 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... |
OMIM:175780 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Upslanted palpebral fis... |
OMIM:601803 |
Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Patent ductus arteriosus |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Lateral ventricle dilatation |
OMIM:619479 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypertension, Proptosis, Hypertelorism |
OMIM:201750 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Asplenia, Splenomegaly, Patent ductus arteriosus, Molar tooth sign on MRI, Agen... |
OMIM:249000 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI |
OMIM:619476 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI |
OMIM:619562 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis of the corpus callosum, S... |
OMIM:615948 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Simplified gyral pattern, Left ventr... |
OMIM:220111 |
Marfan Syndrome |
|
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification |
OMIM:154700 |
Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Periv... |
ORPHA:434179 |
Marfan Syndrome |
|
Mitral valve calcification, Mitral valve prolapse |
ORPHA:558 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Thickened superior cerebellar peduncle |
OMIM:610188 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Infectious encephalitis, Abnormal midbrain morphology |
ORPHA:293987 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |