Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Reversible renal failure, Uveitis, Elevated circulating creatinine ... |
OMIM:607665 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count |
OMIM:618261 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... |
ORPHA:79233 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage, Small for gestational age |
OMIM:278780 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... |
ORPHA:158057 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Decreased... |
OMIM:617744 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease |
OMIM:618061 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents, Failure to thrive, Decreased body weight |
OMIM:619060 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Failure to thrive |
OMIM:605724 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level |
OMIM:300539 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrim... |
OMIM:227650 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Fragile X Syndrome |
|
Protruding ear, Sinusitis, Otitis media, Folate-dependent fragile site at Xq28, Chronic otitis media |
ORPHA:908 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Hearing impairment, Deficient excision o... |
OMIM:278760 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrim... |
OMIM:600901 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Fragile X Syndrome |
|
Periventricular heterotopia, Macrotia, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Bone marrow hypocellularity, Deficient... |
OMIM:227645 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity |
OMIM:609054 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Chromosome breakage |
OMIM:613390 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... |
OMIM:608233 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... |
ORPHA:93126 |
Bloom Syndrome |
|
Protruding ear, Decreased circulating IgA level, Decreased circulating IgG level, Chromosome brea... |
OMIM:210900 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Chromosome breakage |
OMIM:617883 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... |
OMIM:616733 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... |
OMIM:614376 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Deep dermal perivascular inflammatory infiltrate, Elevated circulati... |
ORPHA:49041 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hearing impairment, Deficient excision... |
OMIM:227646 |
Radial-Renal Syndrome |
|
External ear malformation, Chromosome breakage |
OMIM:179280 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Optic nerve hypoplasia, B lymphocytopenia, Decreased proport... |
ORPHA:221139 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... |
ORPHA:411634 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent skin infections, Peritonitis, Recurr... |
ORPHA:36234 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... |
ORPHA:439232 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Conductive hearing impairment, Bone marrow h... |
OMIM:609053 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
N Syndrome |
|
Hearing impairment, Abnormality of chromosome stability |
OMIM:310465 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Failure to thrive, Microtia, Bone marrow hypocellularity, Patent d... |
OMIM:603467 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration, Increased inflammat... |
ORPHA:542323 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Low-set ears, Chromosome breakage |
OMIM:615272 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... |
ORPHA:420741 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... |
ORPHA:91547 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Hyperproteinemia, Nephropathy, Increased cir... |
ORPHA:29073 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, G... |
OMIM:137920 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating antibody level, Abnormality of chromosome stability |
ORPHA:100 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity |
OMIM:617243 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Gout, Enlarg... |
OMIM:232200 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Defective DNA repair after ultraviolet radiation damage, Hearing imp... |
OMIM:610965 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... |
ORPHA:470 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... |
OMIM:301074 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... |
ORPHA:91500 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Gout, Inflam... |
OMIM:232220 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Chromosome breakage |
OMIM:617247 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... |
OMIM:232240 |
Xeroderma Pigmentosum, Complementation Group A |
|
Sensorineural hearing impairment, Keratitis, Defective DNA repair after ultraviolet radiation dam... |
OMIM:278700 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Urinary... |
OMIM:618885 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Hematuria, Proteinuria |
ORPHA:90060 |
Xeroderma Pigmentosum, Complementation Group D |
|
Sensorineural hearing impairment, Keratitis, Keratoconjunctivitis sicca, Defective DNA repair aft... |
OMIM:278730 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Hypokalemia, Pancreatitis, Hemoglobinuria, Peritonitis, Elevated circulating creat... |
ORPHA:90038 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Pneumonia, Gl... |
ORPHA:247691 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Microtia, Anotia, Bone marrow hypocellularity, Chromosomal breakage induced ... |
OMIM:614083 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Patent ductus arteriosus, Hypoalbuminemia |
OMIM:608104 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis |
OMIM:278740 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... |
ORPHA:18 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Hype... |
ORPHA:340 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... |
ORPHA:158061 |
Trichothiodystrophy |
|
Protruding ear, Eczema, Congenital exfoliative erythroderma, Keratoconjunctivitis sicca, Panhypog... |
ORPHA:33364 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis |
OMIM:278720 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... |
ORPHA:230 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... |
OMIM:223900 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Osteomyelitis, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
De Sanctis-Cacchione Syndrome |
|
Sensorineural hearing impairment, Keratitis, Defective DNA repair after ultraviolet radiation dam... |
OMIM:278800 |
Alkaptonuria |
|
Nephrolithiasis, Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Arthritis |
OMIM:203500 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... |
ORPHA:158048 |
Fanconi Anemia, Complementation Group B |
|
Overfolded helix, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hypogonadism, Low-set... |
OMIM:300514 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... |
OMIM:619381 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Meningioma |
|
Amenorrhea, Impotence, Hypogonadotropic hypogonadism, Chromosomal breakage induced by ionizing ra... |
ORPHA:2495 |
Acute Interstitial Pneumonia |
|
Bronchiectasis, Elevated circulating creatinine concentration, Elevated circulating C-reactive pr... |
ORPHA:79126 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Hypokalemia, Pancreatitis, Orchitis, Skin rash, Hyperammone... |
ORPHA:99826 |
Icf Syndrome |
|
Low-set ears, Decreased circulating antibody level, Abnormality of chromosome stability |
ORPHA:2268 |
Yellow Fever |
|
Hyperbilirubinemia, Skin rash, Elevated circulating creatine kinase concentration, Acute pancreat... |
ORPHA:99829 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Cardiogenic Shock |
|
Oliguria, Elevated circulating creatinine concentration |
ORPHA:97292 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... |
OMIM:614748 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Low-set, posteriorly rotated ears, Decreased circulating antibody level, Macro... |
ORPHA:175 |
Nijmegen Breakage Syndrome |
|
Cachexia, Recurrent pneumonia, Macrotia, Abnormality of neuronal migration, Abnormality of chromo... |
ORPHA:647 |
Fanconi Anemia |
|
Decreased fertility in males, External ear malformation, Weight loss, Patent ductus arteriosus, H... |
ORPHA:84 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperechogenic kidn... |
OMIM:619534 |
Revesz Syndrome |
|
Bone marrow hypocellularity, Abnormality of chromosome stability |
OMIM:268130 |