Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
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 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... |
OMIM:609814 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Glomerulonephritis |
OMIM:247800 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Decreased circulating complement factor I concentration |
OMIM:613652 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Nephrotic syn... |
OMIM:613779 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Lupus nephritis, Decreased circulating complem... |
OMIM:614420 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:608709 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co... |
OMIM:614380 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Glomerulopathy, Microscopic hematuria, Protein... |
ORPHA:79087 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... |
ORPHA:859 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Cryoglobulinemia, Abnormal renal physiology |
OMIM:123550 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Skin ulcer, Weight loss, Decreased circulat... |
ORPHA:33355 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Ambiguous genital... |
ORPHA:90791 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:617056 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti... |
OMIM:614699 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Nail... |
OMIM:618625 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Stage 5 chronic kidney ... |
OMIM:615559 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis |
ORPHA:375 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
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 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity |
OMIM:616414 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Portal hypertensio... |
ORPHA:824 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout |
ORPHA:510 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hy... |
ORPHA:3363 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Decrea... |
OMIM:612925 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Lipodystrophy, Sparse eyebrow, Cryptorchidism... |
ORPHA:75496 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Aplasia/Hypoplasia of the skin, ... |
ORPHA:2348 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Aplasia/Hypoplasia of the skin, ... |
ORPHA:79083 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co... |
OMIM:612926 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains |
OMIM:619858 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Dry skin, Lymphadenopathy, H... |
ORPHA:2584 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, L... |
OMIM:612840 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Recurrent respiratory infections, Hypospadias, Supernumerary nipple, Cryptorchidis... |
ORPHA:217346 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... |
ORPHA:3467 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Anal fissure, Perianal absc... |
OMIM:618935 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Absent specific antibody response, Inflammatory abnormality of the s... |
OMIM:102700 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Nephrotic syndrome, Increased circulating IgG level, Increased c... |
OMIM:603909 |
Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Hypogonadism, Sparse body hair, Intrauterine growth retardation, D... |
ORPHA:261483 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... |
ORPHA:231226 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer, Granuloma, Abnormality of neutrophil ... |
ORPHA:542592 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... |
ORPHA:90280 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, ... |
ORPHA:91138 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent cutaneous a... |
ORPHA:47 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level |
OMIM:215250 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca... |
ORPHA:555905 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, P... |
OMIM:614576 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... |
ORPHA:231214 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... |
ORPHA:99886 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... |
ORPHA:2985 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy |
OMIM:618999 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodyspla... |
ORPHA:1660 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Cryptorchidism, Dehydration, Intrauterine growth retardation |
OMIM:618958 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Premature graying of hair, Increased intraabdominal fat, Xanthomatosis, Generalized... |
ORPHA:280365 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypohidrosis, Hyperke... |
ORPHA:281090 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pustule, ... |
ORPHA:293173 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Weight loss... |
ORPHA:507 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Dehydration,... |
OMIM:214150 |
Parana Hard Skin Syndrome |
|
Growth delay, Hyperkeratosis, Short stature, Thickened skin |
ORPHA:2812 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Pituitary adenoma, Hirsutism, Increased circulating ACTH level, Oligomenorrhea, Thin skin,... |
OMIM:219090 |
Mu-Heavy Chain Disease |
|
Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria |
ORPHA:100024 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Aplasia/Hypopl... |
ORPHA:261304 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera... |
OMIM:619774 |
Glanzmann Thrombasthenia |
|
Impaired thrombin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
ORPHA:849 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Sex... |
ORPHA:289548 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... |
ORPHA:79233 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Delayed puberty |
ORPHA:2297 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Increa... |
ORPHA:2137 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Sex reversal, Ambiguous ge... |
ORPHA:168558 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... |
ORPHA:79303 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Microcytic anemia, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, Failure t... |
OMIM:612379 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte... |
OMIM:617021 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio... |
ORPHA:90794 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... |
OMIM:619707 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Short stature, Decr... |
ORPHA:1643 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increased circu... |
ORPHA:69126 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Diabet... |
ORPHA:100 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Short stature |
ORPHA:2574 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acantholysis, Intestinal perforation, Malabsorption, Erythema, Trach... |
ORPHA:537 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Short stature, Lipoatrophy, Skin ulcer, Fine hair, Thin skin |
ORPHA:2500 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Po... |
ORPHA:1812 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth retardation |
OMIM:601410 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, High pala... |
ORPHA:443811 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Short stature, Cryptorchidism, Umbilical hernia, Thin skin, Sparse hair, Intraut... |
OMIM:219150 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria, Impaired T cell function |
OMIM:258900 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair |
ORPHA:1810 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... |
OMIM:612692 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Sparse pubic hair, Increased circul... |
ORPHA:243 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ... |
OMIM:618048 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Increased circulating interleukin 6 concentration, Nephritis, Proteinuria |
OMIM:614034 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... |
OMIM:613500 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse bod... |
OMIM:300869 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Netherton Syndrome |
|
Decreased circulating IgG level, Parakeratosis, Villous atrophy, Recurrent skin infections, Eczem... |
OMIM:256500 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Short stature, Low poster... |
ORPHA:2183 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... |
ORPHA:36412 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Short stature, Limb... |
OMIM:612079 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte phy... |
ORPHA:1830 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Cystic acne, Art... |
OMIM:604416 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Maculopapular exanthema, Skin ras... |
ORPHA:398124 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Villous atrophy, Short stature, Reduced natural kille... |
OMIM:616050 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Abnormality of neutrophils, Acantholysis, Thrombocytope... |
ORPHA:36426 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair |
ORPHA:1174 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Ciliary Dyskinesia, Primary, 41 |
|
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm |
OMIM:618449 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Hematuria, Decreased circulating complement C3 concentration, Decreased circulating... |
ORPHA:231111 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Recurrent pneumonia, Dehydration, Long eyelashes, Recurrent bronchiolitis, Papule |
OMIM:616069 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Increased circ... |
ORPHA:169154 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Thymoma |
|
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... |
ORPHA:99867 |
Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Short sta... |
OMIM:129400 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Leukoc... |
ORPHA:2070 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
Multiple Myeloma |
|
Increased circulating IgA level, Abnormality of the bladder, Decreased circulating antibody level... |
ORPHA:29073 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... |
OMIM:619644 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Abnormal natural killer c... |
OMIM:613101 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Increas... |
OMIM:617303 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased ci... |
ORPHA:3261 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic kidney disease, ... |
OMIM:242900 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Circulating immune complexes, Lymphad... |
ORPHA:2035 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid gland, Decreased fe... |
ORPHA:2234 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Erythrokeratodermia Variabilis |
|
Skin rash, Short stature, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratos... |
ORPHA:317 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556030 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Miscarriage, Hydrocele testis, Increased serum testosterone level, Intrauterine ... |
ORPHA:96181 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Abnormality of the pulm... |
ORPHA:79474 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow... |
ORPHA:2962 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, R... |
OMIM:260920 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... |
OMIM:209950 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermati... |
OMIM:170100 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails |
OMIM:617364 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... |
OMIM:615816 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Dehydration, Hyperactive renin-angiotensin system, Pseudohypoal... |
OMIM:264350 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Flexion contracture, ... |
ORPHA:2850 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Disproportionate short-limb short stature, Stillbirth, Thin skin |
OMIM:259410 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Non-Functioning Paraganglioma |
|
Hematuria, Elevated urinary epinephrine level, Elevated urinary dopamine level, Elevated urinary ... |
ORPHA:94080 |
Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Short stature, Sparse eyeb... |
ORPHA:634 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin |
ORPHA:454 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased circulating co... |
OMIM:615830 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... |
ORPHA:90790 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... |
OMIM:300635 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Repeated pneumothoraces, Short stature, Congenital di... |
OMIM:617602 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Decrea... |
ORPHA:536 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr... |
OMIM:214500 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility |
OMIM:615872 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ... |
OMIM:614438 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilatera... |
OMIM:300219 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Androgen Insensitivity Syndrome |
|
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... |
OMIM:300068 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... |
ORPHA:90291 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Preauricular pit, Sacral dimple, Cryptorchidism, Sparse hair, Umbilical hernia |
OMIM:273390 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Thin skin, Hernia, Umbilical hernia |
ORPHA:75497 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Bazex Syndrome |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans, Anemia |
ORPHA:166113 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Immunodeficiency 62 |
|
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... |
OMIM:618459 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... |
OMIM:240500 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Short stature, Increased circulating IgA level, Bilateral cryptor... |
OMIM:616395 |
Proteus Syndrome |
|
Hyperkeratosis, Splenomegaly, Lymphangioma |
OMIM:176920 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem... |
OMIM:614204 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin, Hypohidrosis |
ORPHA:1658 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can... |
ORPHA:98813 |
Nephroblastoma |
|
Hematuria, Nephroblastoma |
ORPHA:654 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... |
OMIM:618963 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Sparse hair, Ambiguous genitalia, Intrauterine grow... |
OMIM:272440 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm |
ORPHA:69077 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... |
OMIM:619487 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Decreased circulating complement C3 concentration, Proteinuria, Decreased circulating ... |
ORPHA:90060 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Ascites, Protein-los... |
OMIM:608104 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Pulmonary artery stenosis, Sex reversal,... |
OMIM:611812 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur... |
OMIM:606242 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Slow-growing hair, Short stature, Polyhydramnios, Highly arched eye... |
OMIM:617506 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Noonan Syndrome 6 |
|
Curly hair, Short stature, Edema, Polyhydramnios, Long eyebrows, Cryptorchidism, Low posterior ha... |
OMIM:613224 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa... |
OMIM:269840 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... |
OMIM:615513 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Severe short stature, Femoral hernia, Scarring, Abnormality of subcutaneous fat ... |
ORPHA:1899 |
Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Thin skin, Hyperhidrosis |
OMIM:618905 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Tiger tail banding, Reduced hair ... |
OMIM:300953 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin, Adrenal hypoplasia |
ORPHA:230839 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Short stature, Insulin-resistant d... |
OMIM:268020 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay,... |
OMIM:619510 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... |
ORPHA:77297 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Granu... |
ORPHA:454831 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... |
ORPHA:2410 |
Glycogen Storage Disease Vii |
|
Hematuria, Gout, Exercise-induced myoglobinuria |
OMIM:232800 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papu... |
ORPHA:38 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proporti... |
OMIM:619824 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Decreased glomerular filt... |
OMIM:232200 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Recurrent pneumonia, Disproportionate short-trunk short stature, Reduc... |
OMIM:602271 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Aplasia/Hypoplasia of the skin... |
ORPHA:902 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ... |
ORPHA:549 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... |
OMIM:610600 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul... |
OMIM:232240 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp... |
ORPHA:79133 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
Takayasu Arteritis |
|
Increased inflammatory response, Skin ulcer, Weight loss, Hyperhidrosis, Arthritis, Gastrointesti... |
ORPHA:3287 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation... |
OMIM:620210 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... |
ORPHA:379 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, T lymphocytopenia, Scaling skin, Hypothyroidism, Hemolytic anemia, Psoriasiform ... |
OMIM:606367 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Hyperechogenic panc... |
OMIM:617052 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... |
OMIM:619164 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Short stature, Splenomegaly, Recurrent pneumonia, Growth delay... |
OMIM:604173 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Micr... |
ORPHA:398063 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... |
OMIM:603552 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology,... |
ORPHA:742 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Emphysema, Flexion ... |
OMIM:224690 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Hyper... |
OMIM:608013 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... |
ORPHA:312 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Sjögren-Larsson Syndrome |
|
Short stature, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye |
ORPHA:816 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... |
ORPHA:811 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Death in infancy, Dehydration |
OMIM:251850 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Glomerular sclerosis, Nephropathy |
ORPHA:247691 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... |
OMIM:618495 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Decreased circulating antibody level,... |
ORPHA:470 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Short stature, Bronchiectasis, Abnormal central microtubular pa... |
OMIM:612649 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large... |
OMIM:232220 |
Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ... |
OMIM:614162 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Camptodactyly of finger, Moderately short stature, Cigarette-paper scars, Thin ski... |
OMIM:612350 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Pneumonia, Decreased circulating complement factor B concentration, Increased circul... |
ORPHA:2298 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr... |
ORPHA:3051 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... |
OMIM:615934 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pust... |
OMIM:612852 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Short stature, ... |
ORPHA:2872 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Periodontitis, Skin vesicle, Hepato... |
ORPHA:1775 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Absence of subc... |
OMIM:269880 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Fg Syndrome 3 |
|
Death in infancy, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture |
OMIM:300406 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... |
ORPHA:167 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Nail pits, Fine hair, ... |
ORPHA:978 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Reduced sperm motility |
OMIM:619436 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He... |
OMIM:616100 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Wiskott-Aldrich Syndrome |
|
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... |
OMIM:301000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Elbow... |
OMIM:151050 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey... |
ORPHA:238468 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Nephrogenic diabetes insip... |
OMIM:208085 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Decreased circula... |
OMIM:243150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Hypogonadism, Short stature |
OMIM:618681 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Moderately short stature, Flexion contracture, Thin skin |
ORPHA:157965 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, ... |
ORPHA:181 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Dehydration, Sparse hair, Abnormality of the nai... |
ORPHA:313 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Skin ulcer, D... |
OMIM:615688 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... |
ORPHA:158673 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Focal Dermal Hypoplasia |
|
Macule, Acute hepatic failure, Alopecia, Aplasia/Hypoplasia of the skin, Inguinal hernia, Abnorma... |
ORPHA:2092 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyperkeratosis,... |
OMIM:616295 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Dehydra... |
OMIM:203400 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis |
ORPHA:99931 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional ab... |
ORPHA:90362 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... |
ORPHA:37748 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Pyod... |
ORPHA:486 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Gaucher Disease Type 1 |
|
Hematuria, Osteoarthritis, Proteinuria, Increased circulating antibody level |
ORPHA:77259 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydration, ... |
ORPHA:171876 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... |
OMIM:616740 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Xeroderma Pigmentosum |
|
Macule, Alopecia, Short stature, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche... |
ORPHA:910 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... |
OMIM:607616 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level |
OMIM:617099 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Birt-Hogg-Dubé Syndrome |
|
Skin tags, Pneumothorax, Multiple lipomas, Pulmonary sequestration, Parathyroid adenoma, Emphysem... |
ORPHA:122 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis, Weight loss |
ORPHA:704 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Generalized lipodystrophy, Dermal atrophy, Thi... |
ORPHA:90154 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... |
OMIM:615010 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morpho... |
ORPHA:1818 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thickened s... |
ORPHA:39041 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... |
ORPHA:36234 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Cystic Echinococcosis |
|
Membranous nephropathy, Increased circulating antibody level, Renal cyst |
ORPHA:400 |
Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Pleural th... |
OMIM:620014 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... |
OMIM:617571 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ... |
OMIM:615952 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... |
OMIM:618394 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... |
ORPHA:556 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Agenesis of pineal gland, Numerous nevi, Short stature, Multiple joint contrac... |
ORPHA:536471 |
Restrictive Dermopathy 1 |
|
Hypospadias, Sparse eyelashes, Polyhydramnios, Adrenal hypoplasia, Absent eyelashes, Sparse eyebr... |
OMIM:275210 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... |
OMIM:305100 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Short stature, Cryptorchidism, Growth delay, Thin skin |
ORPHA:2719 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... |
OMIM:620282 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod... |
ORPHA:48104 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Decreased circulating IgA level |
DECIPHER:45 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Absent outer dynein arms, Bronchiectasis, Infertility, Recurren... |
OMIM:615500 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dehydration |
ORPHA:289504 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Pol... |
ORPHA:284180 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Growth delay, Adr... |
ORPHA:75233 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... |
OMIM:177735 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:614069 |
Hemophilia B |
|
Hematuria |
ORPHA:98879 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Portal hypertension, Dehydration |
ORPHA:83620 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Short stature, Bronchiectasis, Abnormal central microtubular pa... |
OMIM:612650 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum... |
ORPHA:340 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:1667 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal Fanc... |
ORPHA:91500 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Chronic bronchitis,... |
OMIM:613807 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Thin skin, Nai... |
OMIM:612199 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Hyp... |
OMIM:103285 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Camptodactyly of finger, Hypopigmented skin patches, Fingernail d... |
ORPHA:2251 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Sparse body hair, Aplas... |
ORPHA:79402 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... |
ORPHA:3392 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Cryptorchidism, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterin... |
OMIM:616817 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Cystinosis |
|
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Dehydration, Delayed puberty,... |
ORPHA:213 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... |
OMIM:614732 |
Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increas... |
ORPHA:83313 |
Carney Complex |
|
Atypical nevi in non-sun exposed areas, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig ce... |
ORPHA:1359 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplanta... |
ORPHA:3162 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:494 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Camptodactyly of toe, Hypogona... |
ORPHA:127 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology |
OMIM:274150 |
Lichen Planopilaris |
|
Hyperkeratosis, Abnormal intestine morphology, Hepatitis, Skin ulcer |
ORPHA:525 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Skin nodule, Elevated circulating thyroid-stimulating hormone concentration, Corneal... |
OMIM:601812 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypohidrosis, Hypogonadism, Spa... |
ORPHA:2316 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Splenomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:619752 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Dehydration |
ORPHA:178029 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Increased circulating IgE level |
ORPHA:89843 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen... |
ORPHA:289390 |
Noonan Syndrome 8 |
|
Left ventricular hypertrophy, Eczema, Short stature, Large for gestational age, Cryptorchidism, P... |
OMIM:615355 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice... |
ORPHA:381 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Small scrotum, Abnormal dental enamel morphology, Hig... |
ORPHA:3253 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Short stature, Pulmonary arterial medial hypertrophy, Elbow flexion contracture... |
OMIM:601559 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Petechiae, Reduced natural killer cell activity... |
ORPHA:540 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea... |
ORPHA:90153 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
Microsporidiosis |
|
Pneumonia, Bronchitis, Abnormality of the parathyroid gland, Skin nodule, Abnormal endometrium mo... |
ORPHA:2552 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... |
OMIM:241600 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Urachal Cyst |
|
Dysuria, Pyuria, Urachus fistula, Peritonitis, Hematuria |
ORPHA:488 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
Periventricular Nodular Heterotopia |
|
Thin skin, Hernia, Periventricular heterotopia |
ORPHA:98892 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Relapsing Fever |
|
Hematuria, Abnormality of the urinary system, Acute kidney injury |
ORPHA:91547 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Thickened skin, Erythroderm... |
ORPHA:79456 |
2Q32Q33 Microdeletion Syndrome |
|
Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size |
ORPHA:251019 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco... |
OMIM:613404 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Gastroesophageal reflux |
ORPHA:36386 |
Ollier Disease |
|
Lymphangioma, Skin ulcer, Anemia |
ORPHA:296 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Increased circulating IgM level, Monocy... |
ORPHA:2688 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Reduced subcutaneous adipose tissue, Inguinal hernia, Hypospadias, Sparse eyelashe... |
OMIM:613026 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... |
OMIM:612281 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... |
ORPHA:169160 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis, Hyperkerato... |
ORPHA:90368 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Dry skin, Hyperk... |
OMIM:601675 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Inguinal hernia, Atrophic scars, Thin skin |
OMIM:225320 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... |
OMIM:618282 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Cryptorchidism, Gastroesophageal reflux, High palate, Follicular hyperkeratosis, Dela... |
ORPHA:486815 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis |
ORPHA:505 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Dehydration |
OMIM:143880 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Hepatitis, Bronchiectasis, Dehydration, Cellulitis |
ORPHA:33110 |
Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Abnorma... |
ORPHA:2886 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis... |
ORPHA:47612 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... |
ORPHA:781 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Cleft palate |
ORPHA:398189 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Chronic bronchitis, Absent outer dynein arms, Recurre... |
OMIM:614874 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased circulating ... |
ORPHA:319251 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Abnormal odontoid tissue morphology |
ORPHA:401911 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Recurrent respiratory infections, Short stature, Death in... |
ORPHA:534 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious en... |
ORPHA:42642 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Chronic bronchitis, Abnormal axonemal organization of respirato... |
OMIM:613808 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptor... |
ORPHA:96191 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Irida Syndrome |
|
Intrahepatic cholestasis, Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis |
ORPHA:209981 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Atrophoderma Vermiculata |
|
Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... |
OMIM:609981 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bull... |
OMIM:613576 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, G... |
OMIM:234050 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, L... |
OMIM:615381 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Pancytopenia, Autoimmune hemolytic anemia, Sin... |
ORPHA:572 |
Juvenile Hyaline Fibromatosis |
|
Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair... |
ORPHA:2028 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypoplastic fingernail, Inguinal hernia, Hypospadias, Dysmenorrhea, Postnatal grow... |
ORPHA:397590 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... |
OMIM:615234 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,... |
ORPHA:920 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... |
ORPHA:1018 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced... |
ORPHA:274 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... |
ORPHA:99885 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pustule, Crusting erythematous dermatitis, Erythema, Scali... |
ORPHA:79481 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria |
ORPHA:1334 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, A... |
OMIM:617591 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... |
ORPHA:244 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... |
ORPHA:514 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... |
ORPHA:1855 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... |
OMIM:602540 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Glomerulonephritis, Pneumonia, Orchitis, Myocardit... |
ORPHA:1304 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620126 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
OMIM:275350 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Erythema |
OMIM:154800 |
Ramon Syndrome |
|
Hyperkeratosis, Failure to thrive, Narrow palate |
ORPHA:3019 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Gastrointestinal inflammation, Growth delay, Palmoplantar keratoderma, Skin vesicle, Hyperkeratot... |
ORPHA:79410 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis |
OMIM:619269 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Hypospadias, Short statu... |
OMIM:264090 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... |
OMIM:243700 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... |
OMIM:614457 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620125 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Decreased liver function, Dehydration |
OMIM:602199 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Recon Progeroid Syndrome |
|
Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Thin skin, Hirsutism |
OMIM:620370 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, G... |
OMIM:607115 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Hyperinsulinemia, Dehydration |
ORPHA:230 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Perianal erythema, Duodenitis, Pustule, Increased circulating IgE level, Periora... |
OMIM:614328 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Infertility... |
OMIM:615444 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... |
ORPHA:1451 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Ste... |
OMIM:260400 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Short stature, Pancreatitis, Dehydration |
OMIM:606054 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... |
OMIM:605676 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m... |
OMIM:615592 |
Immunodeficiency 7 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophi... |
OMIM:615387 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Nail dystroph... |
OMIM:620365 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Persistence of hemoglobin F, Growth de... |
OMIM:612561 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, High palate, Con... |
ORPHA:85212 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:212140 |
Glass Syndrome |
|
Inguinal hernia, Short stature, Long eyelashes, Thin skin, Nail dysplasia, Camptodactyly, Sparse ... |
OMIM:612313 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Pancreatic cysts, Dehydration, Pulmonary hypoplasia, Neonatal death, Oligohy... |
OMIM:263200 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis |
ORPHA:231 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Palmoplantar hyperkeratosis, ... |
OMIM:613989 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Thin skin |
ORPHA:449291 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... |
OMIM:614878 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... |
ORPHA:1572 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria |
OMIM:603585 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing... |
OMIM:607626 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, C... |
OMIM:616005 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Skin ulcer, Clef... |
ORPHA:2314 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites |
ORPHA:834 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypogonadism, Hypoplastic nipples, Small nail |
OMIM:273400 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... |
OMIM:219800 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Short stature, Elbow flexion contracture, Premature graying of hair, Hypogonadism,... |
OMIM:616200 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Joubert Syndrome 37 |
|
Short stature, Cryptorchidism, Sparse hair, Micropenis, Decreased testicular size |
OMIM:619185 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Hypohidrosis, Ichthyosis, Palmoplanta... |
ORPHA:100976 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Hypergranulosis, Erythema, Hypohidrosis, Growth delay, Hyperkeratosis, Congenital ich... |
OMIM:242100 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait spot |
OMIM:617804 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Short stature, Ankle flexion contracture, Low alkaline phosphatase, Coarse hair, Death in childho... |
OMIM:619985 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Pulmonary artery stenosis, Abnormality of the anterior pit... |
ORPHA:75389 |
Lead Poisoning |
|
Decreased female libido, Miscarriage, Abnormality of the menstrual cycle, Oligozoospermia, Decrea... |
ORPHA:330015 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation... |
OMIM:615873 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel... |
OMIM:613179 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... |
OMIM:615577 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... |
OMIM:610978 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Villous atrophy... |
OMIM:557000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D... |
OMIM:608612 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, L... |
ORPHA:829 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... |
ORPHA:90068 |
Gaucher Disease Type 3 |
|
Hematuria, Proteinuria, Increased circulating antibody level |
ORPHA:77261 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Weight loss, Lym... |
ORPHA:139402 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Increased circulating interleukin 6 concent... |
ORPHA:160 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglob... |
OMIM:619769 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Short stature, Supernumerary nipple, Keratitis, Leukocytos... |
OMIM:308300 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Hypospadias, Abnormal cortical gyration, Polyhydramnios, Bifid uterus, Abnormal lung... |
OMIM:236680 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Loss o... |
ORPHA:3455 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
Sialidosis Type 1 |
|
Hyperkeratosis, Splenomegaly, Short stature |
ORPHA:812 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Short stature, Thin skin |
OMIM:201170 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, ... |
ORPHA:536467 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive |
OMIM:613217 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Osteogenesis Imperfecta, Type Ii |
|
Disproportionate short-limb short stature, Nonimmune hydrops fetalis, Thin skin |
OMIM:166210 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis |
OMIM:619466 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hyperhidrosis, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Tempi Syndrome |
|
Facial erythema, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia,... |
ORPHA:290 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... |
ORPHA:900 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chron... |
OMIM:608647 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Camptodactyly of finger, Abnormal preputium morphology, Xerostomia, Hypopigmented ... |
ORPHA:2907 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, High palate, Dysphagia, Microglossia, Tongue nodules |
ORPHA:530 |
Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Cryptorchidism, Perineal hypospadias, Low posterior hairline, Hyp... |
ORPHA:3134 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu... |
ORPHA:275 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios |
OMIM:612138 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Gastrointestinal inflammation, Hepatitis, Increased circulating ... |
ORPHA:186 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroidit... |
OMIM:212750 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergon... |
OMIM:227650 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... |
OMIM:606545 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Dowling-Degos Disease |
|
Hyperkeratosis, Arthritis, Anal margin squamous cell carcinoma, Skin vesicle, Hyperkeratotic papu... |
ORPHA:79145 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Proportionate short stature, Synophrys, Low anterior ha... |
ORPHA:391408 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... |
OMIM:615190 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Jaundice, P... |
ORPHA:275761 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Throm... |
OMIM:619463 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Short stature, Hyperhidrosis |
OMIM:615279 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Macs Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Palpebral edema, Short stature, Sparse eyebrow, Cryptor... |
OMIM:613075 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... |
OMIM:619705 |
Pearson Syndrome |
|
Hypoparathyroidism, Elevated hepatic transaminase, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
Warty Dyskeratoma |
|
Acrokeratosis, Neoplasm of the tongue, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem... |
ORPHA:31826 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona... |
OMIM:600901 |
Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjuncti... |
ORPHA:575 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short stature, Microcytic anemia, Cryptorchidism, High palate, Failure to thrive, HbH hemoglobin |
ORPHA:98791 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Marshall-Smith Syndrome |
|
Thin skin, Generalized hirsutism |
ORPHA:561 |
Costello Syndrome |
|
Failure to thrive in infancy, Redundant skin, Short stature, Cryptorchidism, Lack of skin elastic... |
ORPHA:3071 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Short stature, Lipoatrophy, Abnormal hair morp... |
ORPHA:2963 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Lymphadenop... |
ORPHA:520 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Atrophic scars, Thin skin, Thick eyebrow |
ORPHA:230851 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Short stature, Postnatal growth retardation, Synophrys, Achilles tendon contracture, Sparse hair,... |
OMIM:611091 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Sparse eyebrow, Hypoplastic labia majora, Thin skin, Sparse hair, Preauricular ski... |
OMIM:244450 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona... |
OMIM:227645 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Moderate Hemophilia A |
|
Hematuria, Synovitis |
ORPHA:169805 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona... |
OMIM:227646 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni... |
OMIM:214700 |
Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Abnormal circulating insulin concentration, Dehydration |
ORPHA:69076 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Leopard Syndrome 3 |
|
Short stature, Epidermal hyperkeratosis, Growth delay, Hyperkeratosis, Dry skin |
OMIM:613707 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Recurrent respiratory infections, Short stature, Rhizomelia, Edema, Pancreatic... |
OMIM:266920 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... |
OMIM:613451 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia |
OMIM:616029 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to ... |
OMIM:619868 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Femoral hernia, Sc... |
ORPHA:1901 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Superficial dermal perivascular inflammatory infiltrate, Impaired platelet adhesion |
ORPHA:324636 |
Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... |
ORPHA:550 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline... |
OMIM:619745 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Menometrorrhagia, Malabsorption, Thickened skin, Weight loss, Hyperk... |
ORPHA:79430 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Ar... |
ORPHA:779 |
Hennekam-Beemer Syndrome |
|
Short stature, Pneumonia, Thickened skin, Erythema, Skin vesicle, High palate, Mastocytosis, Fail... |
ORPHA:2135 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... |
ORPHA:809 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Erythema, Cheilitis, Dysphagia, Hyperkeratosis, ... |
ORPHA:2908 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... |
ORPHA:276 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Petechiae, Splenomegaly, Leukocytosis, Gastrointestinal ... |
ORPHA:90051 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature |
OMIM:618724 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... |
ORPHA:1647 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rec... |
ORPHA:79076 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Recurrent pneumonia, Flexion contracture, Dehydration, Growth delay, ... |
OMIM:616271 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increased body weight, ... |
ORPHA:905 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... |
ORPHA:183675 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Bronchiectasis, Simplified gyral pattern, Aspiration pneumonia, Sparse hair, Intraut... |
OMIM:618253 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis, Gastric varix |
OMIM:613490 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, High palate, Follicular hyperkeratosis |
OMIM:617066 |
Flynn-Aird Syndrome |
|
Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Dermal atr... |
ORPHA:2047 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Amme Complex |
|
Hematuria |
OMIM:300194 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocyt... |
ORPHA:391487 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation... |
OMIM:301074 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:615023 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epidermoid cyst, Decreased response to growth hormone stimulation test, Short stature, Rhizomelia... |
OMIM:614114 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, Sparse hair, Aplasia cutis congenita, Oli... |
OMIM:616854 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Clitoral hypoplasia,... |
ORPHA:398069 |
Donohue Syndrome |
|
Postnatal growth retardation, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Ovarian cyst, He... |
OMIM:246200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... |
OMIM:300946 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Skin rash, ... |
ORPHA:50918 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... |
OMIM:214900 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hematuria |
OMIM:158310 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti... |
OMIM:614941 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Giant Cell Arteritis |
|
Hematuria, Arthritis, Renal insufficiency, Pericarditis |
ORPHA:397 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi... |
OMIM:150400 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Skin rash, Short ... |
OMIM:610377 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... |
OMIM:607765 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Gastritis, Increased mean platelet volu... |
ORPHA:84064 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerstitial nephriti... |
ORPHA:358 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Gastrointestinal infarction... |
ORPHA:464343 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Aplasia/Hypoplasia of the skin, Nevus, Short stature, Inguina... |
ORPHA:2990 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperkeratosis, Palmo... |
OMIM:148700 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Sea-blue histiocytosis... |
ORPHA:158029 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... |
OMIM:619525 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Bazex-Dupre-Christol Syndrome |
|
Nevus, Hypohidrosis, Coarse hair, Pili torti, Sparse hair, Trichoepithelioma, Milia, Trichorrhexi... |
OMIM:301845 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Dehydration |
ORPHA:457 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Eczem... |
ORPHA:64745 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis, Oliguria |
ORPHA:99824 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Macroglossi... |
OMIM:618440 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Growth delay, Nail dystrophy, Thin skin, Elevated hepatic transaminase |
OMIM:615895 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Short stature, Supernumerary nipple, Keratitis, Erythema, Uveitis, Skin ... |
ORPHA:464 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... |
OMIM:257200 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Splen... |
ORPHA:3452 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Polyhydramnios, Lymphedema, Highly arched eyebrow, Cryptorchidism, Postnatal growt... |
OMIM:613563 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Dehydration |
ORPHA:27 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, Acute leukemia... |
ORPHA:99812 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ... |
ORPHA:331206 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
Immunodeficiency 22 |
|
Pericarditis, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Chronic o... |
OMIM:615758 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Growth delay, Petechiae |
OMIM:611490 |
Chylomicron Retention Disease |
|
Acanthocytosis, Increased hepatocellular lipid droplets, Growth delay, Steatorrhea, Fat malabsorp... |
ORPHA:71 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse... |
ORPHA:1006 |
Darier-White Disease |
|
Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Cryptorchidism, Low anterior hairline, Perineal hypospadias, Low ... |
OMIM:312830 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter |
ORPHA:3409 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hypohidrosis, Hyperkeratosis, ... |
OMIM:301220 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, Rectal abscess, Perio... |
OMIM:116920 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Displacement of the urethral meatus, Short stature, Lipoatrophy |
ORPHA:2301 |
Combined Low Ldl And Fibrinogen |
|
Elevated circulating aspartate aminotransferase concentration |
OMIM:620364 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia, Panniculitis, Cystic acne, Acne inversa |
OMIM:608068 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, ... |
ORPHA:158061 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
Severe Hemophilia A |
|
Synovitis, Macroscopic hematuria |
ORPHA:169802 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Dehydration |
OMIM:602722 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis, Nephr... |
ORPHA:324 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Cardiomegaly, Cleft palate, Acantholysis |
ORPHA:158687 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Congenital ichth... |
ORPHA:477 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Hypogonadism, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis, Bone marrow h... |
ORPHA:391 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Short stature, Abnor... |
ORPHA:99843 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of th... |
ORPHA:436252 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Cardiomegaly, Diffuse palmoplantar hyperkeratosis, Hyperk... |
OMIM:601214 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi... |
OMIM:603553 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... |
ORPHA:221139 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Pate... |
OMIM:606003 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Pachyonychia Congenita |
|
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... |
ORPHA:2309 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Thin skin, Hernia |
ORPHA:2078 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... |
ORPHA:2902 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary artery stenosis, Flexi... |
OMIM:208050 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Short stature, Alopecia totalis, Abnormal dental enamel morpholo... |
ORPHA:221008 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Umbilical hernia |
OMIM:130080 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda... |
OMIM:613804 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Acute hepatic failure, Dehydration, Elevated hepatic transaminase |
OMIM:615453 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ... |
ORPHA:424019 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash... |
OMIM:619381 |
Alg6-Cdg |
|
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to thrive |
ORPHA:79320 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Psoriasiform ... |
ORPHA:293978 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Skin ulcer, Neoplasm of the lung, Palmoplan... |
ORPHA:659 |
Meconium Aspiration Syndrome |
|
Maternal diabetes, Atelectasis, Pneumothorax, Aspiration pneumonia, Intrauterine growth retardation |
ORPHA:70588 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, C... |
OMIM:268400 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... |
OMIM:308800 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Acrodermatitis Enteropathica |
|
Glossitis, Short stature, Malabsorption, Pustule, Erythema, Cheilitis, Skin ulcer, Weight loss, D... |
ORPHA:37 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Thick eyebrow, Polyhydramnios, Supernumerary nipple, Precocious puberty, Crypto... |
OMIM:615485 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Esoph... |
ORPHA:264580 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Keratitis, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse goiter... |
ORPHA:525731 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Short stature, Thick hair, Lipodystrophy, Postnatal growth retardation, Abnormal... |
ORPHA:357074 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Acute kidney injury, Proteinuria |
OMIM:618886 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Thickened skin, S... |
ORPHA:2176 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Submucous cleft hard palate, Atopic dermatitis, Hyperhidrosis, Hyper... |
OMIM:115150 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Pachygyria, Splenomegaly, Thrombocytopenia, Jaundice, Patent ductus arteriosus, Hig... |
OMIM:251290 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Simplified gyral pattern, Disp... |
OMIM:616541 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Skin ulcer, He... |
ORPHA:2072 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Short stature, Chilblains, Splenomegaly, Thrombocytopenia, Erythema, Multiple gastr... |
OMIM:225750 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Abnormality of neutrophils... |
ORPHA:33226 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Acanthosis nig... |
OMIM:612526 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Short stature, Low anterior hairline, Dermal at... |
ORPHA:1787 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Adrenal hypoplasia, Morga... |
OMIM:613177 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Postnatal growth retardation, Splenomegaly, Pancreatic lymphan... |
ORPHA:1655 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Skin ulcer, Hypohidrosis, Hyperkeratosis, Keratoconjunctivitis sicca |
ORPHA:1806 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair, Short stature |
ORPHA:3068 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Hepatomegaly |
ORPHA:79279 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Pneumonia, Edema, Skin erosion, Paronychia, Pneumothorax, Dehydration, Growth delay, An... |
ORPHA:79404 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... |
OMIM:619208 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Recurrent pneumonia, Decreased circulating total IgM, Micropenis, Decreased circulat... |
OMIM:607143 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Shor... |
ORPHA:124 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Hamamy Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low poster... |
OMIM:611174 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole... |
OMIM:300972 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Oligur... |
ORPHA:319213 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Orthokera... |
OMIM:617337 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Severe B lymphocytopenia, Superficial dermal perivascular inflammato... |
ORPHA:83617 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Camptodactyly of finger, Growth delay, Death in childhood, Sparse hair, Intrauteri... |
OMIM:610756 |
Anauxetic Dysplasia 2 |
|
Short stature, Flexion contracture, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth ... |
OMIM:617396 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Hepatosple... |
ORPHA:3260 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Noonan Syndrome 2 |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis, High palate, Palmoplanta... |
OMIM:605275 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic labia majora, Hypoplas... |
OMIM:200110 |
Shigellosis |
|
Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Intestinal perforation, Myocardi... |
ORPHA:810 |
Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Short stature, Lymphedema, Abnormal eyelash morphology, Cryptorc... |
ORPHA:1340 |
Down Syndrome |
|
Decreased fertility, Type II diabetes mellitus, Sparse hair, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Short stature |
ORPHA:1573 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Impaired T cell function, Short stature, Sple... |
OMIM:201100 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis, Cholecystitis |
ORPHA:774 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Skin rash, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Short stature, Acral ulceration |
OMIM:614213 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Hypospadias, Short stature, Flexion contracture, Fine hair, Chordee, Type II diabet... |
OMIM:618891 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec... |
OMIM:235255 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Petechiae, Purpura |
OMIM:620296 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardation, Dec... |
ORPHA:96180 |
Bloom Syndrome |
|
Decreased fertility in females, Postnatal growth retardation, Cryptorchidism, Recurrent upper res... |
OMIM:210900 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Bronchiectasis, Reduced sperm motility |
OMIM:615434 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, I... |
ORPHA:448237 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp... |
OMIM:613385 |
Abcd Syndrome |
|
Aganglionic megacolon, Large for gestational age, Total intestinal aganglionosis, Neonatal death,... |
OMIM:600501 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Erythema, Skin ulcer, Weight loss |
ORPHA:767 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Decreased circul... |
OMIM:212065 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr... |
OMIM:601345 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... |
ORPHA:723 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Sparse facial hair, Sparse axillary hair, Generalized lipodystrophy, Intrauterine ... |
OMIM:608154 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Hypothyroidism, Short stature |
OMIM:617763 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... |
ORPHA:79126 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... |
OMIM:602400 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... |
OMIM:619079 |
Gaisböck Syndrome |
|
Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes... |
ORPHA:90041 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, Failure to thrive |
OMIM:610768 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Cholangitis, In... |
ORPHA:449432 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin, Hypohidrosis |
ORPHA:1028 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Cystic Fibrosis |
|
Male infertility, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Deh... |
OMIM:219700 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Subcutaneous nodule, Type II diabetes... |
ORPHA:2833 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis |
OMIM:615907 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Hyperh... |
OMIM:614594 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, Thin skin |
ORPHA:3342 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Hyperkeratosis, Ichthy... |
ORPHA:1005 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short statu... |
ORPHA:333 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Short stature, Cryptorchidism, Macroglossia, Gastroes... |
ORPHA:847 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Short stature, Polyhydramnios, Cryptorchidism, Lo... |
OMIM:607721 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Abnormality of the subungual region, Growth delay, Atrophic scars, Nail dystrophy, ... |
ORPHA:79411 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Per... |
OMIM:273395 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair |
OMIM:618535 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse... |
OMIM:617883 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Decreased circulating IgA level |
ORPHA:457485 |
Aredyld Syndrome |
|
Short stature, Abnormal dental enamel morphology, Lipoatrophy, Type II diabetes mellitus, Type I ... |
ORPHA:1133 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... |
ORPHA:505248 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Aplasia cutis congenita, Umbilical hernia, Toenail dysplasia |
OMIM:615297 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante... |
OMIM:119580 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Dehydration |
OMIM:251000 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Gastrointestina... |
ORPHA:67 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Recurrent respiratory infections, Short stature, Ing... |
OMIM:601358 |
Chromomycosis |
|
Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratotic papule,... |
ORPHA:182 |
Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Aplastic/hypoplastic toenail, Abse... |
ORPHA:974 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Chronic hepatitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa,... |
OMIM:614602 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Hyperhidrosis, High palate, Follicular hyperkeratosis, Failure to thrive, Slender build |
OMIM:254090 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Say-Barber-Miller Syndrome |
|
Short stature, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infan... |
ORPHA:3132 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Proteinuria, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Hematuria... |
ORPHA:99827 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp... |
OMIM:226700 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Rhizomelia, Oligozoospermia, Growth delay, Clitoral hypoplasia, Small nail, Na... |
OMIM:614813 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Enuresis nocturna, Decreased circulating total IgM, Arthritis, Ot... |
ORPHA:420741 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Edema, Pulmonary edema |
OMIM:267450 |
Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Keratitis, Xerostomia, Clef... |
ORPHA:1896 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Skin ulcer, Granulomatosis, Conjunctivi... |
OMIM:608710 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Diabetes insipidus, Hypertonic dehydration |
OMIM:304800 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skin nodule, Testicular mass, ... |
ORPHA:548 |
Desbuquois Syndrome |
|
Severe short stature, Camptodactyly of finger, Abnormal eyelash morphology, Disproportionate shor... |
ORPHA:1425 |
Gaucher Disease |
|
Osteomyelitis, Proteinuria, Osteoarthritis, Hepatitis, Hematuria, Increased circulating antibody ... |
ORPHA:355 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... |
OMIM:602579 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Allergic rhinitis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Buerger Disease |
|
Skin ulcer, Hyperhidrosis |
ORPHA:36258 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Hydrops fetalis, Fine hair, Pulmonary hypoplasia, Nail dysplasia, Spa... |
OMIM:614091 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Short stature |
ORPHA:1883 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C... |
ORPHA:292 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Short stature, Hypertonic dehydration |
OMIM:125800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bro... |
OMIM:244400 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Pallo... |
ORPHA:3386 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Dehydration, Hyperhidrosis, Elevated circulating alkaline phosphat... |
ORPHA:94093 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hypertension, Spar... |
ORPHA:59303 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Asbestos Intoxication |
|
Edema, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fib... |
ORPHA:2302 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Alopecia, Inguinal hernia, Hypospadias, Short stature, Abnormality of hair texture, Abnor... |
ORPHA:286 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Hy... |
OMIM:257980 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Urinary bladder inflammation, Esophageal stricture, Erythema, Xerostomia... |
ORPHA:99921 |
Hypotrichosis 6 |
|
Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Skin ulcer, Abnormal... |
ORPHA:2591 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Sparse hair, Abnor... |
ORPHA:1515 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Polyhydramnios, Edema, Atelectasis, Hypoplastic nipples, Pulmonary ... |
OMIM:269860 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ... |
ORPHA:79240 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Furrowed tongue, Hypohidrosis, Hyperkeratosis, Ke... |
OMIM:148210 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Preauricular pit, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Short s... |
OMIM:620186 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Acute pancreatitis, Edema, Jaundice, Dehydration |
ORPHA:20 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Death in childhood, Sparse hair, Intrauterine growth retar... |
OMIM:309400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate,... |
OMIM:105650 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa... |
OMIM:153670 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... |
OMIM:267700 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... |
OMIM:607364 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hemolytic ane... |
OMIM:615846 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin de... |
OMIM:300887 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Proportionate short statur... |
OMIM:234100 |
Cholera |
|
Miscarriage, Dehydration, Aspiration pneumonia |
ORPHA:173 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Sacral dimple, Multiple joint contractures, Hypospadias, Short stature, Inguinal herni... |
OMIM:305450 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Severe short stature, Premature ovarian insufficiency, Absence of ... |
OMIM:610965 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
B4Galt1-Cdg |
|
Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational ag... |
ORPHA:79332 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o... |
ORPHA:85138 |
Alg12-Cdg |
|
Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)... |
ORPHA:79324 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, White hair, Camptodactyly of finger, Thick eyebrow |
ORPHA:896 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Anhidrosis, Short stature, Crypto... |
OMIM:216400 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Prolonged neonatal jaundice, Severe failure to thrive, Intrauterine growth retarda... |
ORPHA:423479 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Sparse axillar... |
ORPHA:95409 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
Isolated Biliary Atresia |
|
Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaun... |
ORPHA:30391 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Subcutaneous nodule, Cystoce... |
ORPHA:285 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti... |
ORPHA:169090 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... |
OMIM:604536 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne... |
ORPHA:73263 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... |
OMIM:619573 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Postnatal growth retardation, Cryptorchidism, Fine hair, Sparse hair... |
ORPHA:251028 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin sy... |
OMIM:601678 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu... |
ORPHA:32960 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Short stature, Cryptorchidism, Death in childhood, Sparse hair, Increased phosphorib... |
OMIM:300661 |
Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Skin ulcer, Dysphagia |
ORPHA:220402 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Absence of subcutaneous fat, ... |
OMIM:620005 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Malabsorption, Xerostomia, Skin ulcer, Arthritis, Gastroesophageal reflux, Dysphagia |
ORPHA:220393 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circulating total IgM, Abnormality of the... |
ORPHA:369837 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short stature, Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Thic... |
ORPHA:955 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Erythema |
ORPHA:83453 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... |
ORPHA:257 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Inguinal he... |
ORPHA:3163 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Peritonitis... |
ORPHA:90038 |
Trichorhinophalangeal Syndrome, Type I |
|
Recurrent respiratory infections, Slow-growing hair, Thin nail, Short stature, Concave nail, Leuk... |
OMIM:190350 |
Chime Syndrome |
|
Erythema, Cleft palate, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Alopecia totalis, Short stature, Abnormal denta... |
ORPHA:2909 |
Tetrasomy 12P |
|
Sparse hair, Short stature, Sparse eyebrow, Hypohidrosis |
ORPHA:884 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Severe short stature, Abnormal hair mo... |
OMIM:133540 |
Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Melanocytic nevus, Hydrocele testis, ... |
OMIM:277590 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Low anterior hairline, Upper eyelid edema, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Increased mean platelet ... |
OMIM:222470 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... |
ORPHA:342 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Erythema, Lymphadenopathy, Pan... |
OMIM:619183 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Synophrys, Atypical scarring of skin, Thin skin, Umbilical hernia |
ORPHA:536545 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Short stature |
OMIM:617101 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Severe short stature, Decreased response to growth hormone stim... |
OMIM:616835 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hypothyroidism, Abnormality of the gallbladder, Hyperhidrosis, Failur... |
ORPHA:349 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Hyperconvex nail, Absent eyelashes, Anonychi... |
OMIM:106260 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Molluscoid pseudotumors, Recurrent pneumonia, Thin skin |
OMIM:225400 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Keratitis, Increased circulating ... |
ORPHA:1163 |
Trichothiodystrophy 8, Nonphotosensitive |
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Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal fingernail morphology, Polyhydramnios, Low anterior hairline, Conge... |
ORPHA:79500 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Alg1-Cdg |
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Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati... |
OMIM:613812 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Recurrent skin infections, Short stature, Abnormal tongue morphology, Recurrent pneu... |
ORPHA:158668 |
Porokeratosis 3, Multiple Types |
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Parakeratosis, Porokeratosis |
OMIM:175900 |
Keutel Syndrome |
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Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Dermal atro... |
ORPHA:85202 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Thickened skin, Rectal prolapse, Me... |
ORPHA:508 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
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Hyperkeratosis |
OMIM:145250 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Highly arched eye... |
OMIM:280000 |
8P11.2 Deletion Syndrome |
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Hemolytic anemia, Short stature, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus arter... |
ORPHA:251066 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia, Ileus, Dysphagia, Acanthosis n... |
OMIM:613327 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Marshall-Smith Syndrome |
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Omphalocele, Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Crypto... |
OMIM:602535 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Pal... |
ORPHA:79501 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc... |
ORPHA:171 |
Palmoplantar Keratoderma And Woolly Hair |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Reactive Arthritis |
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Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th... |
ORPHA:29207 |
Arthrogryposis And Ectodermal Dysplasia |
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Short stature, Cleft palate, Hypohidrosis, Hyperkeratosis, Dry skin |
OMIM:601701 |
Aplasia Cutis Congenita |
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Skin ulcer |
ORPHA:1114 |
Bloom Syndrome |
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Recurrent urinary tract infections, Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulati... |
ORPHA:125 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Steatorrhea, Failure to thrive |
OMIM:235555 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Esophageal stenosis, Hypohidrosis, Hyperkeratosis, Adrenal insufficiency, Dysphagia, Achalasia |
OMIM:615510 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Mycetoma |
|
Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t... |
ORPHA:2583 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha... |
ORPHA:363618 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Myoglobinuria |
OMIM:620138 |
Glucose/Galactose Malabsorption |
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Hypertonic dehydration |
OMIM:606824 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Crypto... |
OMIM:235510 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hypospadias, Abnormal fingernail morphology, Hypoplastic toenails, Epispa... |
ORPHA:289 |
Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Polymicrogyria, Oligohydram... |
OMIM:614219 |
Generalized Pustular Psoriasis |
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Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosi... |
ORPHA:247353 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Short stature |
OMIM:616298 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Truncal obesity, Hemop... |
OMIM:222700 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis, Bronchiectasis |
ORPHA:60025 |
Beta-Ketothiolase Deficiency |
|
Edema, Dehydration |
ORPHA:134 |
Agel Amyloidosis |
|
Edema, Respiratory tract infection, Xerostomia, Blepharochalasis, Nail dystrophy, Sparse hair, Di... |
ORPHA:85448 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Noonan Syndrome 10 |
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Short stature, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis, High palate, Palmoplanta... |
OMIM:616564 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis |
OMIM:615225 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... |
ORPHA:449280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... |
OMIM:619418 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva... |
ORPHA:79493 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Failure to thrive, Recurr... |
OMIM:230900 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Short stature, Elevated gamma-glutamyltransferase level,... |
OMIM:242150 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Dehydration |
OMIM:251110 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... |
OMIM:249100 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Severe short stature, Abnormal cortical gyration, Abnormality of ... |
ORPHA:35107 |
Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Joint swelling, Thin skin, Fl... |
OMIM:618175 |
Matthew-Wood Syndrome |
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Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Hypothyroidism, Keratoconjunctivitis... |
ORPHA:14 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Anhidrosis |
OMIM:614979 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Short stature, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, Cryptorchidism,... |
ORPHA:221016 |
Alternating Hemiplegia Of Childhood |
|
Thin eyebrow, Dehydration, Hyperhidrosis |
ORPHA:2131 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... |
ORPHA:922 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
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Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Polycystic kidney dysplasia, Recurrent otitis media, Enlarged ... |
OMIM:300855 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Sparse hair, Flexion contracture, Simplified gyral pattern |
OMIM:620001 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation |
ORPHA:79282 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Patent ductus... |
OMIM:274000 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia |
ORPHA:36238 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Microlissencephaly, Knee flexion contracture, Death in childhood, Sparse hai... |
OMIM:210710 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia |
ORPHA:30 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Lymphangioma, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, ... |
ORPHA:464329 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta synthesis rat... |
OMIM:301040 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Dehydration |
OMIM:251100 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol... |
OMIM:611881 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Short stature, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Mi... |
OMIM:308050 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Acquired Generalized Lipodystrophy |
|
Abnormality of complement system, Panniculitis, Proteinuria, Acute pancreatitis |
ORPHA:79086 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Inguinal hernia, Foot joint contra... |
ORPHA:444072 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Decreased circulating antibod... |
OMIM:604928 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail... |
ORPHA:140936 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Restrictive Dermopathy |
|
Multiple joint contractures, Hypospadias, Short nail, Polyhydramnios, Camptodactyly of finger, Ap... |
ORPHA:1662 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hyperhidrosis... |
ORPHA:2330 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Nephrogenic diabetes insipidus, Growth ... |
ORPHA:223 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Growth delay, Camptodactyly, Sparse hair, Enamel hypoplasia |
OMIM:619980 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Recurrent pneumonia, Horseshoe kidney, Decreased circulating ant... |
ORPHA:508533 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hypoplasia of the small int... |
OMIM:200995 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteron... |
OMIM:241200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Recurrent pneumonia, Sparse hair, Clitoral hypertrophy, Nevus flamm... |
OMIM:616449 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Orchitis, Jaundice, Dehydration, Pancreatitis |
ORPHA:99826 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash... |
ORPHA:228123 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Short stature, Phimosis, Crypto... |
OMIM:305000 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Hypospadias, Anterior pituitary hypoplasia, Polyhydramnios, Highly arched eyeb... |
OMIM:619841 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Dermal atr... |
OMIM:127550 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hyperhidrosis, Joint swelling, Contractures of the large joints... |
ORPHA:96123 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Myocarditis, Erythem... |
ORPHA:221 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Thin skin |
OMIM:166200 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... |
OMIM:308205 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Polyhydramnios, Edema, Sparse eyebrow, Postnatal growth retardation... |
OMIM:302960 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis |
ORPHA:28378 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Malabsorption, Pachygyria, Splenomegaly, Pyloric stenosis, Pul... |
ORPHA:2136 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigm... |
ORPHA:678 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow... |
ORPHA:2834 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Recurrent respiratory infections, Severe ... |
ORPHA:2273 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Thickened skin, Increased ... |
OMIM:263700 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria |
OMIM:201475 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Coarse hair, Sparse hair |
OMIM:607812 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Periventricular heterotopia |
OMIM:614105 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Urinary incontinence |
ORPHA:83600 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Short stature, Hyperconvex nail |
OMIM:619721 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Roberts Syndrome |
|
Progressive flexion contractures, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, L... |
ORPHA:3103 |
Plague |
|
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, H... |
ORPHA:707 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Anhidrosis, Osteomyelitis, Skin ulcer |
OMIM:613640 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... |
ORPHA:89938 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:602782 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,... |
OMIM:181270 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Leukemia, Dry skin,... |
ORPHA:2526 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
Gapo Syndrome |
|
Alopecia, Epidermoid cyst, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, N... |
OMIM:230740 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D... |
OMIM:612301 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Osteomyelitis, Hypospadias, Hematuria, Otitis media, Micropenis |
OMIM:619475 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Furrowed tongue, Hyperhidrosis, Palmoplantar keratoderma, Fo... |
OMIM:615726 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Osteoarthritis, Atypical or prolonged hepatitis, Nephrolithiasis,... |
OMIM:277900 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr... |
OMIM:613471 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypospadias, External... |
ORPHA:2658 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... |
OMIM:130050 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Pustule, Skin ulcer, Granuloma, Infectious encephalitis, Increased red bloo... |
ORPHA:68 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Erythema, Skin ulcer, Weight loss... |
ORPHA:93672 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair |
OMIM:224900 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Short stature, Polyhydramnios,... |
ORPHA:567 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Gout, Nephrocalcinosis, Enterocolit... |
ORPHA:79259 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Short stature, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hai... |
ORPHA:77258 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Gr... |
OMIM:311200 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan... |
ORPHA:449427 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... |
OMIM:615067 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Hypospadias, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism... |
OMIM:113620 |
Pyruvate Carboxylase Deficiency |
|
Growth delay, Dehydration |
ORPHA:3008 |
Chand Syndrome |
|
Curly hair, Atelectasis, Hypohidrosis, Nail dysplasia, Skin erosion, Commissural lip pit, Imperfo... |
ORPHA:1401 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Increased s... |
ORPHA:79277 |
Johanson-Blizzard Syndrome |
|
Elevated gamma-glutamyltransferase level, Death in childhood, Micropenis, Aplasia cutis congenita... |
OMIM:243800 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Episodic hyperhidrosis, Osteomyelitis, Acral ulceration |
OMIM:613115 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Recurrent respiratory infections, Inguinal hernia, Mild postnatal growth retar... |
OMIM:150230 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria |
OMIM:607155 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the swe... |
OMIM:612132 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Displaceme... |
ORPHA:1556 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno... |
OMIM:181000 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism, Dermal atrophy, Short stature |
OMIM:610651 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Brittle hair, Palpebral edema, Increased iduronate sulfatase level, Sparse eyebr... |
OMIM:252500 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Hyperhidrosis, T... |
ORPHA:71493 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Sarcoidosis |
|
Abnormal lung morphology, Subcutaneous nodule, Emphysema, Hypothyroidism, Alopecia, Hyperthyroidi... |
ORPHA:797 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone l... |
OMIM:188400 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
Monosomy 18Q |
|
Micropenis, Decreased circulating IgA level |
ORPHA:1600 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, Pancreatitis, ... |
ORPHA:544482 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti... |
ORPHA:2331 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Postnatal growth retardation, Synophrys, Sparse hair, Aplasia cutis congenita, Toe... |
OMIM:300966 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Hypoplastic labia... |
OMIM:209885 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Pulmonary lymphan... |
OMIM:265380 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Renal insufficiency, Proteinuria, Uveitis |
ORPHA:90321 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:212066 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... |
ORPHA:1071 |
Scleromyxedema |
|
Paraproteinemia, Abnormality of the kidney |
ORPHA:167635 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Severe sho... |
ORPHA:2556 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Otitis media, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne... |
OMIM:250250 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra... |
OMIM:311900 |
Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, R... |
OMIM:115470 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Absent fingernai... |
OMIM:305600 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Bronchiectasis, Decreased circulating IgG2 level, Def... |
OMIM:208900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Decreased circulating antibody level, Hematochezia, Protein-losing enteropathy, A... |
OMIM:618183 |
Igg4-Related Ophthalmic Disease |
|
Palpebral edema, Orchitis, Periorbital edema, Abnormal lung morphology, Abnormality of the anteri... |
ORPHA:449563 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Atypical scarring of skin, Thin skin, Uterine rupture, Striae distensae |
ORPHA:60030 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Hiatus hernia, Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair, Preauricular skin... |
OMIM:616682 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy |
OMIM:616353 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Eczema, Decreased response to growth hormone stimulation test, Testicu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Eczema, Decreased response to growth hormone stimulation test, Testicu... |
ORPHA:363958 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... |
ORPHA:567983 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, High, narrow palate, Obesity, Abnormality of neuronal migration, Hyp... |
ORPHA:75857 |
Alveolar Echinococcosis |
|
Cholangitis, Renal cyst, Increased circulating antibody level, Abnormal bladder morphology, Cutan... |
ORPHA:284 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,... |
OMIM:250410 |
Ramon Syndrome |
|
Short stature, Narrow palate, Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthritis |
OMIM:266270 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Abnormal dental enamel morphology, Lip pit... |
ORPHA:2750 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Decreased te... |
OMIM:610644 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Short stature, Premature graying of hair, Dermal atrophy, Nail dystrophy, Gene... |
ORPHA:3322 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria, Pancreatitis |
OMIM:619471 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
Myhre Syndrome |
|
Short stature, Pericardial effusion, Cryptorchidism, Fine hair, Birth length less than 3rd percen... |
OMIM:139210 |
Cowden Syndrome |
|
Short stature, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossi... |
ORPHA:201 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Multinodular goiter, Adenocarcinoma of the colon |
OMIM:620189 |
Marshall Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair |
ORPHA:560 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a... |
OMIM:229850 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Inguinal hernia, Sparse eyelashes, Short stature, Polyhydramnios, ... |
OMIM:613610 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair, Peripheral pulmonary a... |
OMIM:614099 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skin erosion, Delayed puberty, Flexion contracture, Atypical scarring of skin, Growth delay, Nail... |
ORPHA:89842 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Atrophic scars, Joint contracture, Short stature |
OMIM:615349 |
Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Lymphedema, Pineal cyst, Growth d... |
OMIM:600268 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Short stature, Phimosis, Death in childhood, Sparse hair, Joint contra... |
OMIM:309500 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short stature, Polyhydramnios, Pseudohypoparathyroidism, Sparse hair, Preauricular... |
OMIM:617157 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy... |
OMIM:604292 |
White-Sutton Syndrome |
|
Sparse hair, Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia |
OMIM:616364 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Atelectasis, Flexion contracture, Lissencephaly, Recurrent lower res... |
ORPHA:258 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Redundant skin, Cryptorchidism, Abnormal mesentery morphology, Malrota... |
ORPHA:2953 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Thickened skin, Keratoconjun... |
ORPHA:95159 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Yellow Fever |
|
Renal insufficiency, Anuria, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:99829 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Polyhydramnios |
ORPHA:314621 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Pallister-Killian Syndrome |
|
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flex... |
OMIM:601803 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Severe short stature, Keratitis, Bilateral cryptorchidism, Conjunctivitis |
OMIM:278800 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Small scrotum, Short stature, Portal hypertension... |
OMIM:613658 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Short stature, Fine hair |
OMIM:257850 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal dental enam... |
ORPHA:2710 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Cryptorchidism, Loss of eyelashes, Abnormal circulating calcium-p... |
ORPHA:2636 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... |
OMIM:618644 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Short stature, Protruding tongue, Patent ductus arter... |
OMIM:190685 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Short stature, Microvesicular hepatic steatosis, Micronodular cirrhosis, Osteomyeli... |
OMIM:256810 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Palpebral edema, Hypohidrosis, Breast aplasia, Sparse hair, Type ... |
ORPHA:2036 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ... |
ORPHA:424016 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Episodic hyperhidrosis, Anhidrosis, Gastroesophageal reflux, Acral ulceration |
OMIM:201300 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Allergic rhinitis, Decreased circulating total IgM, Eczema |
OMIM:618162 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Polyhydramnios, Ankle flexion contracture, Postnatal growth r... |
OMIM:268300 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... |
ORPHA:2847 |
Serkal Syndrome |
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Growth delay, Malrotation of small bowel |
ORPHA:139466 |
Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis |
ORPHA:79139 |
Menkes Disease |
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Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, P... |
ORPHA:565 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Skin ulcer |
ORPHA:280062 |
Costello Syndrome |
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Deep-set nails, Curly hair, Short stature, Nevus, Polyhydramnios, Thin nail, Concave nail, Achill... |
OMIM:218040 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Patent ductus arteriosus, Cleft soft palate, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level |
ORPHA:90003 |
Cranioectodermal Dysplasia 1 |
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Recurrent respiratory infections, Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Rhiz... |
OMIM:218330 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis |
OMIM:608654 |
Meier-Gorlin Syndrome 7 |
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Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... |
OMIM:617063 |
Nocardiosis |
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Pneumonia, Subcutaneous nodule, Emphysema, Thyroiditis, Pneumothorax, Abnormality of the adrenal ... |
ORPHA:31204 |
Goldberg-Shprintzen Syndrome |
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Highly arched eyebrow, Synophrys, Sparse hair, Pachygyria, Polymicrogyria, Thick eyebrow |
OMIM:609460 |
Teebi-Shaltout Syndrome |
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Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sp... |
OMIM:272950 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Anhidrosis, Short stature, Thin nail, Growth delay, Sparse hair |
OMIM:617799 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Growth delay, Atrophic scars, Nail... |
ORPHA:79396 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Polyhydramnios, Epispadia... |
ORPHA:3339 |
Craniolenticulosutural Dysplasia |
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Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
Cockayne Syndrome |
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Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Hypotrichosis 14 |
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Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Menke-Hennekam Syndrome 1 |
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Inguinal hernia, Cryptorchidism, Recurrent upper respiratory tract infections, Flexion contractur... |
OMIM:618332 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin, Short stature, Abnormal dental enamel morphology |
ORPHA:1782 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sp... |
OMIM:118650 |
Primrose Syndrome |
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Sparse scalp hair, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent fac... |
OMIM:259050 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Abnormal circulating enzyme concentration or activity, Respiratory tract infection, Atelectasis, ... |
ORPHA:365 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... |
ORPHA:512 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Asymmetric, linear skin d... |
OMIM:309801 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Short stature, Short nail, Cryptorchidism, Umbilical hernia, Sparse hair, Intrau... |
OMIM:278250 |
Autosomal Recessive Cutis Laxa Type 1 |
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Severe short stature, Redundant skin, Pyloric stenosis, Recurrent pneumonia, Lack of skin elastic... |
ORPHA:90349 |
Revesz Syndrome |
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Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... |
OMIM:268130 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Small for gestational age, Short stature, Cryptorchidism, Malrotation of small ... |
OMIM:194190 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Hypoplastic toenails, Umbilical hernia, Cutis marmorata telangiectatica congenit... |
OMIM:616028 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Hypermelanotic macule, Decreased serum leptin, Alopecia tota... |
ORPHA:740 |
Alström Syndrome |
|
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis,... |
ORPHA:276280 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Proteus Syndrome |
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Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria |
ORPHA:1272 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Redundant skin, Postnatal growth retardation, Bronchiectasis, Pyelonephritis... |
ORPHA:90348 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... |
ORPHA:438213 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria |
ORPHA:2162 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Cartilage-Hair Hypoplasia |
|
Sacral dimple, Rhizomelia, Sparse eyebrow, Disproportionate short-limb short stature, Sparse hair |
ORPHA:175 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,... |
OMIM:186580 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Patent ductus arteriosus, A... |
ORPHA:1708 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, H... |
OMIM:601776 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ... |
OMIM:164200 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormal cortical gyration, Cryptorchidism, Cleft palate, Ab... |
OMIM:219000 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Cardiomegaly |
ORPHA:79280 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Thyroid C cell hyperplasia |
OMIM:300952 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, ... |
ORPHA:141127 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Anhidrosis, Osteomyelitis, Acral ulceration |
OMIM:256800 |
Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hepatomegaly, Intestinal malrotation, Supernumerary nipple, Spl... |
OMIM:312870 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Dermal atrophy, Papule |
ORPHA:679 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Penetrating foot ulcers |
ORPHA:99956 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Intrauterine growth retardation, Joint contracture of the 5th finger |
OMIM:619934 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:264450 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology |
ORPHA:90307 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Leptospirosis |
|
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Optic neuritis, Acute kidney... |
ORPHA:509 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Hypoplastic sweat glands, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating aspartate aminotransferase concentration |
OMIM:607091 |
Pmm2-Cdg |
|
Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, A... |
ORPHA:79318 |
Kindler Syndrome |
|
Ridged nail, Phimosis, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy |
OMIM:173650 |
Genitopatellar Syndrome |
|
Anal stenosis, Periventricular heterotopia, Cryptorchidism, Malrotation of small bowel, Anteriorl... |
OMIM:606170 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619869 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |