Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia |
OMIM:222100 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
OMIM:619468 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... |
OMIM:143880 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... |
ORPHA:213 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... |
ORPHA:320 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Panhypophysitis |
|
Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R... |
ORPHA:95513 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Irritabilit... |
ORPHA:275864 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... |
ORPHA:84081 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Nephrogenic diabetes insipidus, Fu... |
ORPHA:223 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Polydipsia, Hypernatremia |
OMIM:125800 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... |
OMIM:613677 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Astrocytosis, Inappropriate behavior, Di... |
OMIM:600795 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased ... |
OMIM:612780 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Depression, Athetosis, Dementia, Thalamic calcification, Cognitive impairment, Memory imp... |
OMIM:615483 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating ren... |
OMIM:263800 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Micropenis, Polyphagia |
OMIM:614962 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis, Obesity, Hypogonadism, Polydipsia |
OMIM:615994 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration,... |
OMIM:618317 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Polydipsia, Polyuria |
OMIM:273120 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... |
ORPHA:251004 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Nephroblastoma, P... |
ORPHA:143 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H... |
ORPHA:93111 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Focal Cortical Dysplasia, Type Ii |
|
Cognitive impairment, Astrocytosis |
OMIM:607341 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Nephroblastoma, P... |
ORPHA:99880 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
Perineural Cyst |
|
Dyspareunia, Depression, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility,... |
ORPHA:65250 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Diabetes insipidus, Slender build, Astrocytosis |
OMIM:611087 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... |
ORPHA:369929 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Cach Syndrome |
|
Progressive neurologic deterioration, T2 hypointense thalamus, Atrophy/Degeneration affecting the... |
ORPHA:135 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... |
ORPHA:417 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... |
OMIM:610951 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
Sporadic Creutzfeldt-Jakob Disease |
|
Confusion, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impairment |
ORPHA:204 |
Dystonia 30 |
|
Impulsivity, Compulsive behaviors, Hypothalamic hamartoma, Aggressive behavior |
OMIM:619291 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circu... |
ORPHA:90301 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis |
ORPHA:3327 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnor... |
ORPHA:3157 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Tubulinopathy-Associated Dysgyria |
|
Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity di... |
ORPHA:467166 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Failure to thrive, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Puberty and gonadal dis... |
ORPHA:525731 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid ... |
ORPHA:276575 |
Coasy Protein-Associated Neurodegeneration |
|
Compulsive behaviors, Abnormal thalamus morphology, Cognitive impairment |
ORPHA:397725 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young,... |
ORPHA:324575 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc... |
OMIM:201100 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I d... |
ORPHA:276580 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Generalized aminoaciduria |
OMIM:606528 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Citrullinemia, Type Ii, Adult-Onset |
|
Confusion, Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ball... |
OMIM:603471 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Recurrent herpes, Decreased proportion of naive T c... |
ORPHA:276 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d... |
ORPHA:398069 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Po... |
ORPHA:329249 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:618929 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... |
OMIM:230350 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ... |
ORPHA:254881 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemi... |
OMIM:232200 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu... |
ORPHA:98813 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... |
ORPHA:572 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic tran... |
OMIM:276700 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Agitation, ... |
ORPHA:276556 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior, Cafe-au-lait spot |
ORPHA:436151 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood... |
ORPHA:71529 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification, Limb ataxia |
OMIM:618824 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, T2 hypointense thalamus, Dementia, Disinhibition |
OMIM:618193 |
Inherited Creutzfeldt-Jakob Disease |
|
Chorea, Depression, Astrocytosis, Irritability, Gait ataxia, Progressive cerebellar ataxia, Emoti... |
ORPHA:282166 |
Central Precocious Puberty In Male |
|
Astrocytoma, Acne, Aggressive behavior, Pituitary microadenoma, Attention deficit hyperactivity d... |
ORPHA:649929 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Nephropathy, Abnormal mesentery m... |
ORPHA:3463 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... |
ORPHA:428 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Dysphagia, Basal ganglia gliosis |
ORPHA:225154 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive |
ORPHA:363717 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Anorexia, Splenomegaly, Myocarditis... |
ORPHA:3452 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash, Hepatomegaly |
OMIM:601979 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, T2 hypointense thalamus, Gait ataxia, Dementia, Cognitive impairment, Dysphagia, Motor de... |
ORPHA:1947 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Recurrent skin infections, Decreased serum iron, Dysphagia, Decreased serum zi... |
ORPHA:89842 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Skin rash, Retroperit... |
ORPHA:35687 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Midline brainstem cleft, Agenesis of corpus callosum, Hypop... |
OMIM:617542 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... |
ORPHA:446 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hypersexuality,... |
OMIM:607485 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syndrome, Focal segmental... |
OMIM:617303 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Gliosis, Inappropriate laughter, Disinhibition, Emo... |
OMIM:172700 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast... |
OMIM:613388 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Galactosemia I |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI... |
ORPHA:254930 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria |
OMIM:239510 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagi... |
ORPHA:280195 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Focal T2 hyperintense thalamic lesion, Dementia, Progressive language deterioration, ... |
ORPHA:79264 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Depression, Restlessness, Astrocytosis |
ORPHA:100070 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Abnormal repetitive mannerisms, Partial agenesis of the cor... |
ORPHA:300570 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... |
OMIM:614034 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Chorea, Subcortical dementia, Abnormal thalamic MRI signal intensity, Fr... |
ORPHA:157846 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Goiter |
OMIM:274240 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr... |
ORPHA:79259 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Sinusitis, Pneumonia, Pustule, Abnormal hypothalamus morphology, Intrarenal abscess... |
ORPHA:68 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Hypotriglycerid... |
ORPHA:2298 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95512 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Hypoplasia of the ovary, Decr... |
OMIM:618841 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation, Decreased... |
ORPHA:314621 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation |
OMIM:223360 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensit... |
ORPHA:444013 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... |
OMIM:203400 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... |
OMIM:616026 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Obesity, Hypogonadism, Skin-picking, Micropenis, Polyp... |
OMIM:615547 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... |
ORPHA:300373 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age |
OMIM:619057 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... |
OMIM:618048 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Ov... |
ORPHA:391372 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... |
ORPHA:540 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... |
OMIM:614732 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... |
ORPHA:90791 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Azoospermia, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Renal insufficiency, Hypercalce... |
ORPHA:95409 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Eczema |
OMIM:608118 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:619072 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Self-injurious behavior, Poly... |
ORPHA:228402 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... |
OMIM:260005 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat... |
ORPHA:79128 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Abnormal thalamus mor... |
ORPHA:435638 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria... |
ORPHA:99845 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration, Failure to thrive ... |
ORPHA:468699 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Weight loss, Depression, ... |
OMIM:137440 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Paucity of anterior... |
ORPHA:79139 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... |
OMIM:218330 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... |
OMIM:241530 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Psoriasiform dermatitis, Bron... |
ORPHA:168569 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroid... |
ORPHA:508 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:158061 |
Pallister-Hall-Like Syndrome |
|
Glioma, Micropenis, Hypothalamic hamartoma, Anterior hypopituitarism, Renal dysplasia |
OMIM:241800 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Attention de... |
ORPHA:300573 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism,... |
OMIM:616629 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Ravine Syndrome |
|
Decreased body weight, Ataxia, Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affe... |
ORPHA:99852 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Retrograde ejaculation, Impotence, Anorexia |
ORPHA:49041 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Compulsive behaviors, Abnormal thalamus morphology, Attention deficit hyperactivi... |
ORPHA:404440 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Decreased... |
ORPHA:370959 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Leigh Syndrome |
|
Ataxia, Progressive neurologic deterioration, Abnormal brainstem MRI signal intensity, Chorea, Fo... |
ORPHA:506 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash... |
ORPHA:93552 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, Abnormal brainstem MRI signa... |
ORPHA:83597 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Hypertriglycer... |
OMIM:608594 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Memory impa... |
OMIM:606889 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... |
OMIM:612469 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia, Agitation |
OMIM:619046 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Gliosis... |
OMIM:256600 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... |
OMIM:615468 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... |
OMIM:604360 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Mental deteriorat... |
ORPHA:2822 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation |
ORPHA:230 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hormone stimulati... |
OMIM:615873 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Acute pancr... |
OMIM:269700 |
Classic Mycosis Fungoides |
|
Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin, Irregular hyperpigmenta... |
ORPHA:2584 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Abnormal thalamus morphology, Paresthesia, Cognitive impairment |
ORPHA:2959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia, Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Obsessive-compu... |
OMIM:619908 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Adrenocortical carcinoma, ... |
OMIM:130650 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Ataxia, Abnormal brainstem morphology, Impaired pain sensation |
ORPHA:1532 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Hypospadias, Failure... |
ORPHA:209905 |
New-Onset Refractory Status Epilepticus |
|
Confusion, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:363558 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... |
ORPHA:90795 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,... |
ORPHA:544482 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr... |
OMIM:606069 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... |
OMIM:619132 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Hepatoblastoma, Vesicoureteral ref... |
ORPHA:116 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... |
OMIM:227810 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... |
ORPHA:183675 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failu... |
OMIM:604273 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Oliguria, Anorexia, Central hypothyroidism |
ORPHA:514 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Leukopenia, Anemia |
ORPHA:33355 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor... |
ORPHA:206448 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Renal ... |
ORPHA:85138 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Semantic dementia, Disinhibition... |
ORPHA:1020 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Osteoarthritis, Renal phosphate wasting, Renal tubula... |
OMIM:307800 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:88619 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Incre... |
ORPHA:507 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Autoimmune thrombocytopenia, D... |
OMIM:245200 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior |
ORPHA:2382 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Memory impairment, Disinhibition, Depression |
OMIM:608907 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... |
ORPHA:95427 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... |
OMIM:208500 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Failure to thrive, Abnormal brainstem morphology |
ORPHA:255182 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... |
OMIM:614376 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Lateral ventricle dilata... |
OMIM:608629 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Elevated ci... |
OMIM:612089 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon, Renal hypoplasia/aplasia |
ORPHA:2570 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Chorea, Dysmetria, Gai... |
OMIM:610217 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... |
OMIM:615816 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Sel... |
ORPHA:488618 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu... |
OMIM:241500 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... |
ORPHA:464329 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Neuro... |
OMIM:620210 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Necrobiosis Lipoidica |
|
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology |
ORPHA:542592 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Failure to thrive in infancy, Abnormal midbrain morphology, Atrophy... |
ORPHA:356961 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Hypercalciu... |
OMIM:618440 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Aceruloplasminemia |
|
Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cognitive impai... |
ORPHA:48818 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney... |
ORPHA:340 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... |
ORPHA:435934 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... |
ORPHA:188 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium |
OMIM:611489 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... |
ORPHA:231226 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... |
ORPHA:3243 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Chilblain Lupus |
|
Increased circulating antibody level, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles, Dementia, Dysphagia, Memory impairment, Optic ataxia |
OMIM:607822 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Small for gestational age, Splenomegaly, Abnormality of the pancreas, ... |
OMIM:222470 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... |
ORPHA:488627 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... |
OMIM:252500 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Hypoesthesia, Dysplastic corpus callosum, Obesity, Memory impairment |
OMIM:619737 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Retinal telangiectasia |
ORPHA:438134 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:619111 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Impaired proprioception, Abnormal brainstem morphology, Dysmetria, Dysphagia, Progressive... |
ORPHA:98755 |
Tay-Sachs Disease |
|
Short attention span, Abnormal thalamic MRI signal intensity, Dysmetria, Depression, Dysphagia, M... |
ORPHA:845 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... |
ORPHA:478 |
Hsd10 Disease |
|
Choreoathetosis, Abnormal social behavior, Ataxia, Dysphagia |
ORPHA:391417 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... |
ORPHA:542323 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Hyperpigmentation of the skin... |
ORPHA:444002 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pancreatitis, Dysphagia, Typ... |
OMIM:606721 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Memory impairment, Dementia, Aggressive behavior |
OMIM:606688 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Lassa Fever |
|
Jaundice, Conjunctivitis, Oliguria, Dysphagia |
ORPHA:99824 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... |
ORPHA:139402 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... |
ORPHA:231214 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614815 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia |
OMIM:193100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,... |
ORPHA:79328 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Chronic ... |
ORPHA:330015 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Gastritis, Splenomegaly, Renal hypoplasia, Abnormality o... |
ORPHA:84064 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hy... |
ORPHA:275761 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... |
ORPHA:169090 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin ulcer |
ORPHA:231 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... |
ORPHA:30391 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Dysphagia, Astrocytosis, Highly elevated creatine kinase, Decreased body weight |
ORPHA:258 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ... |
ORPHA:229717 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Nephr... |
ORPHA:449427 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Self-mutilation, Aggressive behavior |
OMIM:614970 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Anor... |
OMIM:557000 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Obesity, Progressive lang... |
ORPHA:163681 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, Th... |
OMIM:308940 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment |
ORPHA:459033 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Skin ulcer |
ORPHA:1117 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Acrogeria |
|
Excessive wrinkled skin, Irregular hyperpigmentation, Skin ulcer |
ORPHA:2500 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney, Discoid lu... |
ORPHA:166119 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Memory impairment, Frontotemporal dementia, Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steato... |
OMIM:300855 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Impulsivity, Increased body weight, Attention deficit hyperactivity disorder |
ORPHA:589905 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diami... |
OMIM:207800 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Seborrheic dermatitis |
ORPHA:276280 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... |
OMIM:608233 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia |
OMIM:611560 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Dementia |
OMIM:104300 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop... |
ORPHA:31824 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Dementia |
DECIPHER:48 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, B lymphocytopen... |
OMIM:150550 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, S... |
ORPHA:90051 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Dementia |
OMIM:104310 |
Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive |
OMIM:617140 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Skin ulcer, Purpura |
ORPHA:743 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated ... |
ORPHA:319213 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Supranuclear Palsy, Progressive, 1 |
|
Irritability, Gliosis, Dysphagia, Astrocytosis |
OMIM:601104 |
Pontocerebellar Hypoplasia Type 10 |
|
Irritability, Abnormal brainstem morphology |
ORPHA:411493 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... |
ORPHA:96121 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:485421 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cryptorchidism, Obesity, Decreased testicular size |
OMIM:619185 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... |
ORPHA:391428 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Diabetes mellitus |
OMIM:249270 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... |
ORPHA:500095 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... |
ORPHA:416 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Aminoaciduria, Hypoplasia of the thymus,... |
OMIM:214110 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Aminoaciduria, Gliosis, Elevated hepatic iron concentration, Basal ... |
OMIM:614946 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Nephrocalcinosi... |
ORPHA:90041 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurrent bacterial i... |
OMIM:248500 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly |
OMIM:618999 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Zygomycosis |
|
Renal insufficiency, Diabetes mellitus, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, M... |
ORPHA:73263 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Depression, Dementia, Mental deterio... |
OMIM:614298 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia, Decreased circulating antibo... |
OMIM:616576 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho... |
OMIM:614602 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:617672 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Hypopigmented skin patches, Skin ulcer, Agammaglobulinemia... |
ORPHA:47 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Pyoderma Gangrenosum |
|
Skin vesicle, Myeloid leukemia, Increased circulating antibody level, Skin ulcer |
ORPHA:48104 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Failure to thrive |
OMIM:250620 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... |
OMIM:604416 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Ascites, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Dementia, Weight loss |
OMIM:605543 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C ce... |
ORPHA:653 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation |
ORPHA:251028 |
Luscan-Lumish Syndrome |
|
Recurrent otitis media, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Splenomegaly, Skin ulcer, Iris hypopigmentation |
ORPHA:834 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ataxia |
ORPHA:59315 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... |
ORPHA:33001 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous s... |
OMIM:616239 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... |
ORPHA:447 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Lewy bodies, Mental deterioration, Dementia |
OMIM:616840 |
Acute Promyelocytic Leukemia |
|
Anorexia, Weight loss, Hematuria, Addictive alcohol use, Stomatitis |
ORPHA:520 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
Joubert Syndrome 6 |
|
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... |
OMIM:610688 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:618161 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment, Atrophy/Degeneration affecti... |
OMIM:616267 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Depression, Dementia, Agitation, Low frustration tolerance, Dysphagia, ... |
ORPHA:411602 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Urinary incontinence, Aggressive behavior, Oral-pharyngeal dy... |
ORPHA:404448 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:619306 |
Ollier Disease |
|
Skin ulcer, Anemia |
ORPHA:296 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cognitive impairment, Elongated superior cerebellar peduncle, Ataxia, Abnormal brainstem morphology |
ORPHA:370022 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Elevated circulating c... |
OMIM:137920 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neurodegeneration, Brain atrophy |
OMIM:214150 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
D-Glyceric Aciduria |
|
Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Micropenis, Failure to thrive |
OMIM:220120 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Abnormal renal tubule morphology |
ORPHA:2720 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Dementia, Dysphagia |
OMIM:257220 |
Listeriosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritoniti... |
ORPHA:533 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... |
OMIM:242840 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Skin ulcer, Granulocytopenia, Scaling skin, Lymphopenia, Hypopigme... |
ORPHA:454831 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Ataxia |
ORPHA:220497 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypogonadism |
OMIM:273400 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Precocious puberty, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... |
ORPHA:227990 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
Parkinson Disease, Late-Onset |
|
Substantia nigra gliosis, Depression, Dementia, Dysphagia, Lewy bodies |
OMIM:168600 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... |
ORPHA:227982 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Hypothyroidism, A... |
ORPHA:1606 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Aminoaciduria, Al... |
OMIM:214100 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria |
ORPHA:30 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:207900 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Sialidosis Type 1 |
|
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... |
ORPHA:812 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Molar tooth sign on MRI, Elo... |
ORPHA:397715 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Ataxia |
ORPHA:220493 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Prolidase Deficiency |
|
Petechiae, Splenomegaly, Skin ulcer, Anemia, Increased circulating antibody level, Thrombocytopenia |
OMIM:170100 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner... |
ORPHA:447788 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... |
OMIM:615398 |
Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated supe... |
OMIM:608091 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos... |
ORPHA:289176 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Renal interstitial edema, Steril... |
ORPHA:91500 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Optic atrophy, Opto-chiasmatic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:615491 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Ataxia, Obesity |
OMIM:612291 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Abnormal br... |
ORPHA:8 |
Holoprosencephaly 7 |
|
Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brainstem, Fusion ... |
OMIM:610828 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Substantia nigra gliosis, Dementia |
OMIM:607060 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Irritability, Hypoplasia of the brainstem, Ataxia |
OMIM:614424 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Dementia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Attention deficit hyperactivit... |
ORPHA:459061 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Spl... |
OMIM:222700 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior |
ORPHA:309246 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Papa Syndrome |
|
Increased circulating antibody level, Skin ulcer |
ORPHA:69126 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Dementia, Lewy Body |
|
Lewy bodies, Dementia |
OMIM:127750 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Bilateral cryptorchidism, Hypothalamic hamartoma, Molar tooth sign on MRI, Failure to thrive |
ORPHA:2754 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypot... |
ORPHA:90065 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Aminoaciduria, Ketonuria, Large for gestational age |
OMIM:614520 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Failure to thrive, Agenesis of corpus callosum, Hypothalamic hamartoma |
OMIM:277170 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Joubert Syndrome 1 |
|
Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behavior, Hypoplasia of the brainstem, Mol... |
OMIM:213300 |
Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Dementia, Cognitive impairment, Dysphagia, Lewy bodies |
ORPHA:171695 |
Sotos Syndrome |
|
Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus cal... |
OMIM:117550 |
Semantic Dementia |
|
Brain atrophy |
ORPHA:100069 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... |
OMIM:620330 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration, Acute infect... |
ORPHA:36238 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atr... |
OMIM:300894 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Overweight, Dilated third ventricle, Head-banging, Self-injurious behavior,... |
OMIM:619575 |
Early-Onset Lafora Body Disease |
|
Mental deterioration, Ataxia, Confusion, Lafora bodies |
ORPHA:324290 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the kidney, Abnormal renal cortex morphology, Abnormality of the liver, Hyperbilir... |
ORPHA:464321 |
Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Lafora bodies, Progressive cerebellar ataxia, Dementia, Cognitive impairment |
OMIM:616640 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism, Skin ulcer |
ORPHA:352723 |
Takayasu Arteritis |
|
Skin ulcer, Anemia |
ORPHA:3287 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Chronic oral candidiasis |
OMIM:212050 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Aggressive behav... |
ORPHA:544488 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... |
OMIM:312870 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Familial Multiple Nevi Flammei |
|
Irregular hyperpigmentation, Hypermelanotic macule, Skin ulcer |
ORPHA:624 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:525 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... |
ORPHA:444072 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... |
OMIM:617053 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Hepatopulmonary fusion, Patent urachus, Micropenis, En... |
OMIM:618280 |
Parkinson Disease 1, Autosomal Dominant |
|
Depression, Dementia, Dysphagia, Mental deterioration, Lewy bodies |
OMIM:168601 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepat... |
OMIM:619991 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena... |
ORPHA:369837 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Cardiomegaly, Abnormal circulating A... |
ORPHA:57777 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Decreased se... |
OMIM:604290 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... |
ORPHA:48435 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Co... |
OMIM:615300 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Depression, Dementia,... |
ORPHA:93256 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Splenomegaly, Erythema, Skin ulcer, White forelock, Dry skin |
ORPHA:742 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t... |
ORPHA:904 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Increased circulating IgE level, Eosinophilia, Skin ulcer |
ORPHA:2314 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
Livedoid Vasculopathy |
|
Pancytopenia, Hyperpigmentation of the skin, Leukocytosis, Hyperpigmented streaks, Skin ulcer, Ma... |
ORPHA:542643 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Hypothalamic hamart... |
OMIM:311200 |
Cryoglobulinemic Vasculitis |
|
Splenomegaly, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased body weight, Depression, Emotional lability, Abdominal obesity, Cogn... |
ORPHA:189427 |
Idiopathic Camptocormia |
|
Frontotemporal dementia, Abnormal pons morphology, Lewy bodies, Amyotrophic lateral sclerosis |
ORPHA:1320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L... |
OMIM:124000 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Primary Progressive Freezing Gait |
|
Restless legs, Lewy bodies, Dysphagia, Dementia |
ORPHA:75567 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Intrahep... |
OMIM:606812 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of cell c... |
OMIM:227646 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... |
ORPHA:438213 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Increased body weight, Progressive neurologic deterioration, Large for gestational age |
ORPHA:263455 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Optic atrophy, Periventricular heterotopia |
OMIM:618476 |
Coach Syndrome 1 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:216360 |
Infantile Myofibromatosis |
|
Irregular hyperpigmentation, Skin ulcer |
ORPHA:2591 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Acne |
ORPHA:1551 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Abnorm... |
ORPHA:797 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Chronic Granulomatous Disease |
|
Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomegaly, Skin ulcer |
ORPHA:379 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Small pituitary gland |
OMIM:619479 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, Dysphagia |
OMIM:619775 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Decreased circulating copper concentration, Seborrheic dermatitis |
OMIM:121270 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Aggressive behavior, Ectopic kidney, Hypothyroidism, Obesity, Congenital hypothyroid... |
OMIM:607872 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Ataxia |
ORPHA:2318 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Progressive gait ataxia, Lewy bodies, Dementia |
ORPHA:97355 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Joubert Syndrome 39 |
|
Overweight, Pain insensitivity, Molar tooth sign on MRI |
OMIM:619562 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Splenomegaly, Aminoaciduria |
OMIM:616084 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Failure to t... |
ORPHA:905 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Bacterial endocarditis |
ORPHA:1054 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617563 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Hepatosplenomegaly, Neurodegenera... |
OMIM:309900 |
Waisman Syndrome |
|
Lewy bodies, Dementia |
OMIM:311510 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma... |
OMIM:206900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... |
OMIM:619055 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Retinal pigment epithelial mottling, T... |
OMIM:251260 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Bronchi... |
OMIM:219700 |
Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles, Irritability, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal dementia, Dysphagia, Depression |
ORPHA:199351 |
Cocaine Intoxication |
|
Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Hematuria, T... |
ORPHA:90068 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Micropeni... |
ORPHA:672 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
ORPHA:1657 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Anorexia, Splenomegaly, Iridocyclitis, Hypercalciuria, Uveitis, Weight loss, Bronch... |
OMIM:181000 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... |
OMIM:194050 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Ataxia, Decreased thalamic volume |
ORPHA:168577 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Lack of skin elasticity, Skin ulcer, Premature graying of ha... |
ORPHA:902 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Decreased circulating a... |
OMIM:615688 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Depression, Progressive gait ataxia, Emotional lability, Abnormal social behavior |
ORPHA:309271 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Dysphagia |
ORPHA:163961 |
Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin ulcer |
ORPHA:779 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Dyskeratosis Congenita |
|
Hypermelanotic macule, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, White hair, Hy... |
ORPHA:1775 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Skin ulcer |
ORPHA:1806 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Paresthesia, Abnormal brainstem morphology |
ORPHA:79279 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Ataxia |
OMIM:614706 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer |
ORPHA:659 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t... |
OMIM:619476 |
Lafora Disease |
|
Ataxia, Confusion, Lafora bodies, Depression, Dementia, Mental deterioration, Emotional lability |
ORPHA:501 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Pancytopenia, Gliosis, Cerebral atrophy |
OMIM:618321 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia |
OMIM:615895 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Acute Transverse Myelitis |
|
Urinary retention, Urinary bladder sphincter dysfunction, Decreased circulating copper concentrat... |
ORPHA:139417 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Myositis, Glomerulonephritis, Abnormality of the k... |
ORPHA:289390 |
Alkaptonuria |
|
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis |
ORPHA:56 |
Adult Syndrome |
|
Freckling, Dry skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Rheumatoid arthritis |
ORPHA:399180 |
Hurler Syndrome |
|
Splenomegaly, Neurodegeneration, Retinal degeneration, Hepatosplenomegaly |
OMIM:607014 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
X-Linked Hypophosphatemia |
|
Enthesitis, Renal phosphate wasting, Arthritis, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Optic atrophy, Cerebral atrophy |
OMIM:616878 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight, Depression |
OMIM:615830 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Skin ulcer, Granuloma, Neutropenia, Lymph... |
ORPHA:228119 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:37 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-bangi... |
ORPHA:177907 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Abnormal brainstem morpholog... |
ORPHA:464311 |
Infantile Systemic Hyalinosis |
|
Skin ulcer, Hyperpigmentation of the skin |
ORPHA:2176 |
Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
Orofaciodigital Syndrome Type 14 |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Mola... |
ORPHA:434179 |
Incontinentia Pigmenti |
|
Eosinophilia, Erythema, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation,... |
ORPHA:464 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Choreoacanthocytosis |
|
Bradyphrenia, Hepatomegaly, Short attention span, Elevated circulating aspartate aminotransferase... |
ORPHA:2388 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain, Aggressive behavior |
OMIM:616202 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... |
ORPHA:98870 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global brain atrophy, C... |
OMIM:234200 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Cryptorchidism, Patent ductus arteriosus |
OMIM:616300 |
Niemann-Pick Disease Type C |
|
Ataxia, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Chorea, Hepatosplenomegaly, De... |
ORPHA:646 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Chronic Mucocutaneous Candidiasis |
|
Erythema, Skin ulcer |
ORPHA:1334 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Ataxia, Thickened superior cerebellar peduncle, Aggressive behavior |
OMIM:610188 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Attention deficit hyperactivit... |
ORPHA:73223 |
Meckel Syndrome, Type 1 |
|
Molar tooth sign on MRI, Cryptorchidism, Patent ductus arteriosus, Agenesis of corpus callosum |
OMIM:249000 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Polyclonal ... |
ORPHA:171 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Subependymal gia... |
ORPHA:805 |
Adrenocortical Carcinoma |
|
Irritability, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss |
ORPHA:1501 |
Cushing Disease |
|
Striae distensae, Pituitary corticotropic cell adenoma, Leukocytosis, Skin ulcer, Decreased eosin... |
ORPHA:96253 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer |
OMIM:608710 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Myoclonic Epilepsy Of Lafora |
|
Dementia, Progressive neurologic deterioration, Lafora bodies |
OMIM:254780 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Giant Cell Arteritis |
|
Skin ulcer |
ORPHA:397 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:93932 |
Juvenile Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:93672 |
Norrie Disease |
|
Cachexia, Abnormality of the diencephalon, Cryptorchidism, Irritability, Self-injurious behavior,... |
ORPHA:649 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
Xeroderma Pigmentosum |
|
Keratitis, Aminoaciduria, Hypogonadism, Failure to thrive, Blepharitis |
ORPHA:910 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Abnorm... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cryptorch... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cryptorch... |
ORPHA:353277 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Erythema, Hypopigmented skin patches, Skin ulcer |
ORPHA:2907 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Neurodegeneration |
OMIM:253220 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat... |
ORPHA:79078 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Skin ulcer, Scaling skin, Leukemia, Dry skin |
ORPHA:2526 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, Cardiomegaly, Hepatic cal... |
ORPHA:51608 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:616546 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus... |
OMIM:615948 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
Systemic Sclerosis |
|
Irregular hyperpigmentation, Spotty hypopigmentation, Digital ulcer, Acral ulceration |
ORPHA:90291 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia |
ORPHA:3474 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Immunoglobulin A Vasculitis |
|
Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Hajdu-Cheney Syndrome |
|
Splenomegaly, Dry skin, Skin ulcer |
ORPHA:955 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer, Purpura |
ORPHA:900 |
X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Osteogenesis Imperfecta |
|
Small for gestational age, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Dysphagia |
ORPHA:666 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Dermatomyositis |
|
Dry skin, Erythema, Abnormal eosinophil morphology, Skin ulcer |
ORPHA:221 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Anemia, Ec... |
ORPHA:2072 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Hepatic fibrosis, Impaired n... |
ORPHA:79318 |
Blau Syndrome |
|
Splenomegaly, Erythema, Skin ulcer, Anemia, Dry skin, Hyperpigmentation of the skin |
ORPHA:90340 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Spotty hypopigmentation, Aggressive behavior |
ORPHA:401973 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Malakoplakia |
|
Skin ulcer |
ORPHA:556 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fair hair, Cafe-au-lait spot, Inappropriate laughter, Attention deficit hyperactivity disorder, V... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Fair hair, Cafe-au-lait spot, Inappropriate laughter, Attention deficit hyperactivity disorder, V... |
ORPHA:363958 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Striae distensae, Pituitary corticotropic cell adenoma, Leukocytosis, Skin ulcer, Decreased eosin... |
ORPHA:99889 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Lack of skin elasticity,... |
ORPHA:79474 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration, Chorioretinal coloboma |
OMIM:619475 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Erythema, Skin ulcer, Abnormality of skin pigmentation, Skin vesicle |
ORPHA:99921 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Acral ulceration |
OMIM:256800 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron |
OMIM:616959 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Skin ulcer, Anemia, Neutropenia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:95455 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling |
OMIM:616393 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Leprosy |
|
Abnormality of the spleen, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Plague |
|
Splenomegaly, Dry skin, Skin ulcer |
ORPHA:707 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Wrinkly Skin Syndrome |
|
Failure to thrive, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acral ulceration |
OMIM:256810 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |
Carney Complex |
|
Tall stature, Elevated circulating growth hormone concentration, Testicular neoplasm, Increased b... |
ORPHA:1359 |
Split Cord Malformation |
|
Penetrating foot ulcers, Hyperpigmentation of the skin |
ORPHA:573278 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon |
OMIM:601374 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |