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Gene: Mpv17 MGI:97138

Gene Summary

Name:

MpV17 mitochondrial inner membrane protein

Synonyms:

Tg.Mpv17

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating glucose level	Mpv17^em1(IMPC)J	HOM	Early adult	1.53×10^-05
increased heart weight	Mpv17^em1(IMPC)J	HOM	Early adult	2.34×10^-05
decreased mean corpuscular hemoglobin	Mpv17^em1(IMPC)J	HOM	Early adult	1.89×10^-06
thrombocytopenia	Mpv17^em1(IMPC)J	HOM	Early adult	1.02×10^-05
increased blood urea nitrogen level	Mpv17^em1(IMPC)J	HOM	Early adult	8.20×10^-05

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Viewing: all phenotypes

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Mpv17 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mpv17 (2 diseases)
Human diseases predicted to be associated with Mpv17 (2137 diseases)

The table below shows human diseases associated to Mpv17 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee		Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Distal amyotrophy...	OMIM:618400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)		Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Decreased activ...	OMIM:256810

The table below shows human diseases predicted to be associated to Mpv17 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Ataxia, Mesangial hy...	OMIM:617575
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp...	ORPHA:85443
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas...	OMIM:615244
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Proteinuria, Recurrent myoglobinuria,...	OMIM:607426
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, ...	OMIM:617303
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,...	ORPHA:275555
Hereditary Coproporphyria	Dark urine, Hyponatremia, Tachycardia, Proximal muscle weakness in upper limbs, Hepatocellular ca...	ORPHA:79273
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia,...	OMIM:619487
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Galactosemia I	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase...	OMIM:617872
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S...	OMIM:617730
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne...	OMIM:614650
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic...	OMIM:618347
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Galloway-Mowat Syndrome 5	Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large ea...	OMIM:617731
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:618348
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Hiatus hernia, Stage 5 chronic kidn...	OMIM:617729
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary n...	ORPHA:276621
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hepatomegaly, Ataxia, Hypermelanotic macule, Scarring, Crypt...	ORPHA:90321
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, Bilateral sensorineural hearing impairment, IgA ...	OMIM:182690
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Porphyria Variegata	Abnormal circulating porphyrin concentration, Abnormality of the liver, Skin vesicle, Hypopigment...	ORPHA:79473
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Proteinuria, Small for gest...	OMIM:251300
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, De...	ORPHA:1933
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Sensorineural hearing impairment, Hypertension, Gait disturbance, Nephropathy	ORPHA:2820
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Decreas...	OMIM:255100
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Branchiootorenal Syndrome 2	Preauricular skin tag, Renal insufficiency, Renal dysplasia, Hearing impairment	OMIM:610896
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia, Congestive heart failure, Sensorineural...	ORPHA:225
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Loss of ambulation, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Br...	OMIM:214100
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616239
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, ...	OMIM:619428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ...	OMIM:613845
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increase...	OMIM:222470
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Hypermelanotic macule, Minimal change glom...	ORPHA:1830
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Cerebellar atrophy, Hiatus hernia, Stage 5 chronic kidney disease, C...	OMIM:619603
Hereditary Pheochromocytoma-Paraganglioma	Cranial nerve compression, Adrenal pheochromocytoma, Positive regitine blocking test, Conductive ...	ORPHA:29072
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Optic atrophy	OMIM:249660
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of ...	ORPHA:247691
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic...	ORPHA:79087
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Sensorineural hearing impairment, Abnormality of mitochondrial metab...	ORPHA:1192
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Neutropenia, Macule, Waddling ...	OMIM:242900
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m...	ORPHA:550
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou...	OMIM:610965
Cednik Syndrome	Proteinuria, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Diffuse palmopla...	ORPHA:66631
Familial Partial Lipodystrophy, Dunnigan Type	Xanthomatosis, Hepatic steatosis, Abnormality of the nail, Generalized hirsutism, Glomerulopathy,...	ORPHA:2348
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy...	OMIM:616733
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Stage 5 c...	ORPHA:79259
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco...	OMIM:618913
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa...	OMIM:232500
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemi...	OMIM:212065
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio...	OMIM:121300
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Decreased muscle mass, ...	ORPHA:298
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Tricuspid regurgitation, Hepatosplenome...	ORPHA:505248
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Gait ataxia, Aminoaciduria...	OMIM:612075
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:301006
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Acr...	ORPHA:90291
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Stage 5 chronic kidney disease, Cer...	OMIM:619609
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea...	OMIM:251880
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Alg1-Cdg	Cerebellar atrophy, Renal insufficiency, Abnormality of the kidney, Cerebral atrophy, Nephrotic s...	ORPHA:79327
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis...	ORPHA:49041
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Ataxia, Optic atrophy, Stage 5 chronic kidney disease, Hemat...	OMIM:243910
Pparg-Related Familial Partial Lipodystrophy	Xanthomatosis, Hepatic steatosis, Loss of facial adipose tissue, Generalized hirsutism, Hepatomeg...	ORPHA:79083
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase ...	ORPHA:158684
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre...	OMIM:615993
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Cachexia, Sensorin...	ORPHA:3242
Bacterial Toxic-Shock Syndrome	Myositis, Fasciitis, Elevated circulating creatine kinase concentration, Increased circulating my...	ORPHA:36234
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver...	ORPHA:79320
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Diencephalic Syndrome	Cachexia, Long penis, Optic atrophy, Decreased body weight, Macrotia	ORPHA:1672
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react...	ORPHA:91547
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton...	OMIM:617595
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Camos Syndrome	Renal insufficiency, Ataxia, Optic atrophy, Nephrotic syndrome, Brain atrophy	ORPHA:83472
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, ...	ORPHA:1133
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Choreoathetosis	OMIM:257970
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Polyuria, Mottled pigmentation of photoexposed areas, Pigmentary retinopath...	OMIM:560000
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,...	ORPHA:79312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashe...	ORPHA:217346
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd...	OMIM:613630
Gitelman Syndrome	Prolonged QT interval, Ataxia, Polyuria, Renal magnesium wasting, Vertigo, Rhabdomyolysis, Ventri...	OMIM:263800
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa...	ORPHA:54057
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cryptorchidism, Macrotia, Low plasma citrulline, Hyperammonemia, Athetosis, Hypo...	OMIM:219150
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology,...	ORPHA:742
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c...	OMIM:232200
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Elevated hepatic transaminase, Sensorineural hearing impairment, Optic atroph...	OMIM:618329
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal a...	OMIM:607250
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Gapo Syndrome	Hepatomegaly, Alopecia, Epidermoid cyst, Facial palsy, Sparse eyelashes, Sparse eyebrow, Optic at...	OMIM:230740
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci...	OMIM:614376
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Sensorineural hearing impairment, Hepatosplenomegaly, In...	ORPHA:79237
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem...	ORPHA:369
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c...	ORPHA:368
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C...	OMIM:602579
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Subcutaneous nodule, Weight loss, Hematuria, Neo...	ORPHA:69077
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Familial Reactive Perforating Collagenosis	Abnormal fingernail morphology, Abnormal pinna morphology, Chronic kidney disease, Erythematous p...	ORPHA:79147
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Localized skin lesion, Rhabdomyolysi...	ORPHA:449285
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Microcyt...	OMIM:618805
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph...	OMIM:176200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, A...	OMIM:603552
Barth Syndrome	Failure to thrive, Fair hair, Increased left ventricular end-diastolic volume, Tricuspid regurgit...	OMIM:302060
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Decreased activity of mitochondrial ATP...	OMIM:618378
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weigh...	OMIM:613662
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, Nephronophthisis, Hepatomegaly, ...	OMIM:266920
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Iris hypopigmentation...	ORPHA:97229
Familial Cervical Artery Dissection	Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, ...	ORPHA:36382
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Gait ataxia, Prolong...	OMIM:616878
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ...	OMIM:274150
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enure...	OMIM:612780
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy, Failure to thrive, Anemia	ORPHA:28
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Ataxia, Cryptorchidi...	ORPHA:2377
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia,...	OMIM:254900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Recurrent ...	OMIM:615559
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Majeed Syndrome	Glomerulopathy, Failure to thrive, Hepatomegaly, Proteinuria, Cachexia, Congenital hypoplastic an...	ORPHA:77297
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin ...	ORPHA:2092
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Decreased activity of m...	OMIM:619147
Hematuria, Benign Familial, 2	Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen...	OMIM:620320
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Sensorineural h...	OMIM:613861
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Skeletal muscle steatosis, R...	ORPHA:436271
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Moynahan Syndrome	Alopecia, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Sparse hair	ORPHA:2574
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Ataxia, Congenital hepatic fibrosis, Chronic kidney disease,...	ORPHA:3156
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Sparse hair, Lower limb muscle weakness,...	OMIM:606721
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Hypertriglyceridemia, Abnormality...	ORPHA:168569
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Cerebellar vermis atrophy, Distal amyotrophy, Steppage gait, Hypoalbuminemia, Hypercholes...	ORPHA:94124
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammonemia, Renal tubular...	ORPHA:289916
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Thrombocytopenia	ORPHA:1980
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Ataxia, Inguinal hernia, Cryptorchidism, Sensorineur...	ORPHA:2719
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hy...	ORPHA:27
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ...	ORPHA:97362
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Progressive gait ataxia, Congenital cont...	ORPHA:191
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochon...	ORPHA:99013
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Failure to thrive, Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Macrotia, Hypopigmentation o...	ORPHA:261304
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Hypoplasia of penis, Multicysti...	ORPHA:110
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Sensorineural hearing impairment, Optic atr...	OMIM:220110
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Non-Functioning Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Co...	ORPHA:94080
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Lessel-Kubisch Syndrome	Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypertension	OMIM:618681
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Xeroderma Pigmentosum	Conjunctival telangiectasia, Aminoaciduria, Macule, Alopecia, Ataxia, Hypermelanotic macule, Cryp...	ORPHA:910
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp...	ORPHA:94093
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Hirsutism, Obesity, Nephrolithiasis, Hypertension, Hy...	OMIM:219090
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype...	OMIM:203800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia	OMIM:618093
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Hype...	ORPHA:3222
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Hepatosplenom...	OMIM:619858
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Abnormal pinna morphology, Cryptorchidi...	ORPHA:79324
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,...	ORPHA:263455
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam...	ORPHA:488650
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circula...	ORPHA:230
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Ataxia, Splenomegaly, Aplasia/Hypoplasia...	ORPHA:834
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hypopigmentati...	ORPHA:101330
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:255125
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Sensorineur...	ORPHA:2668
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Cerebral atrophy, Dec...	ORPHA:324525
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:79240
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Renal hypoplasia/aplasia, Abnormal antihelix morphology, Large e...	ORPHA:1438
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Aortic val...	OMIM:615382
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Smith-Magenis Syndrome	Hypertriglyceridemia, Synophrys, Abnormal renal morphology, Increased body weight, EEG abnormalit...	OMIM:182290
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Overwe...	ORPHA:90041
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Lipoatrophy, Sensorineural hearing impairment, Subcutaneous nodul...	ORPHA:2833
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Skin ulcer, EEG abnormality, Dermal atrophy,...	ORPHA:2047
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the ...	OMIM:102700
Rapp-Hodgkin Syndrome	Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Enamel hy...	OMIM:129400
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276556
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body...	ORPHA:2298
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276575
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic...	ORPHA:263501
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase co...	OMIM:614921
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Neuronal loss in central nervou...	ORPHA:85278
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Microcytic anemia, He...	OMIM:619013
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypopigmented skin patche...	OMIM:607944
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Sensorineural hearing impairment, Optic atrophy...	OMIM:300438
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Posteriorly rotated ears, Hyperconvex nail, Cupped ear, Flexi...	OMIM:613870
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren...	OMIM:241200
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Decreased circul...	ORPHA:324575
Coach Syndrome 3	Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial ...	OMIM:619113
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conductive hearing impairment, Sensorineural hearing impairment, Cryptorchidism, ...	OMIM:235510
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Thyrocerebrorenal Syndrome	Renal insufficiency, Abnormality of the musculature of the limbs, Sensorineural hearing impairmen...	ORPHA:3327
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype...	OMIM:620211
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Hypovolemia, Weight...	ORPHA:99885
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality...	ORPHA:848
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis...	ORPHA:261222
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating glutamine c...	ORPHA:101028
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction	OMIM:608320
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Conges...	ORPHA:367
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Synophrys, Abnormal...	ORPHA:819
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration, Centrally nucleated skel...	OMIM:620235
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Severe sensorineural h...	ORPHA:79499
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hepatic steatosis, Hydronephrosis, Hearing impair...	OMIM:615996
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Hypertension...	OMIM:105200
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, ...	ORPHA:2930
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the...	ORPHA:2471
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa...	ORPHA:2985
Senior-Boichis Syndrome	Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h...	ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,...	OMIM:614748
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi...	ORPHA:347
Cockayne Syndrome B	Dry hair, Abnormality of skin pigmentation, Sparse hair, Micropenis, Loss of facial adipose tissu...	OMIM:133540
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Multiple joint contractures, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276580
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Axonal degenerati...	OMIM:208920
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Renal hypoplasia, Low-set ears, Exoc...	OMIM:118450
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Myh9-Related Disease	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria...	ORPHA:182050
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Leukopen...	OMIM:619488
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, B...	OMIM:619063
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr...	ORPHA:1812
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Renal...	ORPHA:79474
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Proximal muscle weaknes...	ORPHA:99845
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Nevus, Decreased serum iron, Skin erosion, Dilated ca...	ORPHA:89842
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr...	ORPHA:352447
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr...	ORPHA:542323
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:238468
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy	ORPHA:35
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Ogden Syndrome	Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Protruding ear, Iron def...	OMIM:300855
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic s...	OMIM:270400
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Elevated circulating creatinine concentration, Hydronephrosis, ...	OMIM:154230
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Subcutaneous nodule, Atrioventricular block, Ne...	ORPHA:324
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Cockayne Syndrome A	Dry hair, Abnormality of skin pigmentation, Sparse hair, Micropenis, Loss of facial adipose tissu...	OMIM:216400
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Myoglobinuria, Hyperkal...	ORPHA:57
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Inability to walk, Stage 5 chr...	OMIM:166300
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia,...	ORPHA:363400
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Gait ...	ORPHA:157973
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepati...	ORPHA:171
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryp...	ORPHA:75496
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, Neutropenia, Neph...	OMIM:277400
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Pancytop...	OMIM:603553
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, L...	ORPHA:116
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Low anterior hairlin...	ORPHA:800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Congestive heart failure, Adipose tissue loss,...	ORPHA:528
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol...	OMIM:618156
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam...	OMIM:249270
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnorm...	ORPHA:85293
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Gait disturbance, Nephropathy	ORPHA:2774
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge...	OMIM:269920
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati...	OMIM:608022
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hypopigmentation of...	OMIM:252500
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Orthostatic hypotension, Decreased circulat...	ORPHA:95409
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm...	ORPHA:99826
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol...	ORPHA:189427
Acrogeria	Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, T...	ORPHA:2500
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Ob...	OMIM:615994
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypo...	OMIM:618183
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Distal amyotrophy, Facial palsy, Abnormal auditory evo...	OMIM:601382
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Muckle-Wells Syndrome	Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocytosis, Renal a...	OMIM:191900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h...	OMIM:619055
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypospadias, Small for gestational age, Decreased activity of mitochondrial ATP ...	OMIM:614052
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Abnormal peritoneum m...	ORPHA:1764
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Babesiosis	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Myocardial infarction, Splenomegaly, Jaundic...	ORPHA:108
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mit...	ORPHA:17
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Amino...	ORPHA:213
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Decreased muscle mass, Hypospadias, Shoulder dimple, Cachexia,...	ORPHA:813
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Camptodactyly of finger, Hearing impairment, Abnormal preputium morph...	ORPHA:2907
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, ST segm...	ORPHA:263297
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy...	ORPHA:31826
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Enlarged ovaries, Lon...	ORPHA:508
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Protruding ear, Oligosacchariduria, Nephrocalcinosis, Aminoac...	ORPHA:534
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Preauricular pit, Sacral dimple, Inguinal hernia, Large for gestational age, Umbilical hernia, Ne...	OMIM:618272
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca...	OMIM:613327
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Anemia	ORPHA:2123
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, Chronic otit...	ORPHA:900
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Sitosterolemia 2	Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia	OMIM:618666
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Cond...	OMIM:129900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Failure to thrive in infancy, Posteriorly rotated ears, Cachexia, Facial hypoton...	OMIM:616801
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90037
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu...	OMIM:618886
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Congenital Enterovirus Infection	Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis, Cholestas...	ORPHA:292
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombo...	ORPHA:49827
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Small for gestat...	ORPHA:26793
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529799
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Overweight, Cryptorchi...	OMIM:616222
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Vertigo, Hypertension	ORPHA:820
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Proximal muscle weakness in upper lim...	ORPHA:79276
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia, Hepatomegaly	OMIM:261750
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma, Anemia	ORPHA:52022
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, He...	OMIM:619534
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Meier-Gorlin Syndrome 1	Small for gestational age, Hyperconvex nail, Cryptorchidism, Flexion contracture, Joint contractu...	OMIM:224690
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia	ORPHA:375
Coach Syndrome 1	Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Ataxia, Unilateral renal agenesis...	OMIM:216360
Meckel Syndrome, Type 8	Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex...	ORPHA:506
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palmoplantar keratoderma, Palpit...	OMIM:610476
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ataxia, Skin nodule, Elevated urinary dopamine level, Horne...	OMIM:256700
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Ataxia, Splenomegaly, Sensorineur...	ORPHA:36412
Ravine Syndrome	Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin...	ORPHA:99852
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Choreoathetosis, Abnormality of th...	ORPHA:702
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy...	OMIM:614922
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Urinary incont...	ORPHA:101085
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Sensorineural hearing impairment, Obesity, Absence of acoustic re...	OMIM:619737
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Giant Cell Arteritis	Renal insufficiency, Alopecia, Pericarditis, Epistaxis, Sudden cardiac death, Ataxia, Vertigo, Va...	ORPHA:397
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
Lead Poisoning	Decreased HDL cholesterol concentration, Abnormal sperm morphology, Small for gestational age, Ch...	ORPHA:330015
Xanthomatosis, Susceptibility To	Hypercholesterolemia, Xanthomatosis	OMIM:602247
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hypopigmentation of the skin, Lipodystrophy, Elevated circulating creati...	OMIM:615980
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Morgagni-Stewart-Morel Syndrome	Vertigo, Obesity, Hypertension, Hyperuricemia, Brain atrophy, Hypercholesterolemia, Cerebral cort...	ORPHA:77296
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Hypercalcemia, Exe...	ORPHA:284426
Hydroxykynureninuria	Tachycardia, Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concent...	ORPHA:79155
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropa...	ORPHA:100024
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le...	ORPHA:79282
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Myocardial infarction, Subcutaneous nodule, Tubulointerstitial nephritis, Papule, Glome...	ORPHA:183
Sarcoidosis	Heart block, Increased T cell count, Subcutaneous nodule, Ventricular tachycardia, Nephrocalcinos...	ORPHA:797
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine...	OMIM:620366
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Sensorineural hearing impairment, Cachexia	ORPHA:1144
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Coarse hair, Thickened helices, Sparse hair, Preauricular pit, Tricuspid regurgitation, Highly ar...	OMIM:617506
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Agel Amyloidosis	Proteinuria, Facial palsy, Diffuse skin atrophy, Ataxia, Stage 5 chronic kidney disease, Cardiomy...	ORPHA:85448
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Megaloblastic anemia,...	ORPHA:35858
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Thin skin, Fingernail dysplasia, Trichodysplasia, Toenail d...	ORPHA:1660
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Urinary incontinence, Cachexia, I...	ORPHA:300605
Dermoodontodysplasia	Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ...	OMIM:618186
Whipple Disease	Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myositis, Myocardi...	ORPHA:3452
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Ataxia, Increased adipose tissue, Congestive heart failure, Sensorineur...	ORPHA:1349
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Splenomegaly, Jaundice, Myo...	ORPHA:549
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Thick hair, Highly arched eyebrow, Overweight, Dilated cardiomyopathy, Reno...	ORPHA:401923
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency, Lethargy, Cardiomyopathy	ORPHA:254857
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu...	ORPHA:1909
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Hyperpigmentat...	ORPHA:79396
Zttk Syndrome	Aortic regurgitation, Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse...	OMIM:617140
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Splenomegal...	ORPHA:1328
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnormality of the ...	ORPHA:3455
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber...	OMIM:125250
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	OMIM:610489
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Inguinal hernia, Cerebral hemorrhage, Sensorineural hearing impairment, ...	ORPHA:536545
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Sensorineural hearing impairment, Chronic kidney disea...	ORPHA:488627
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Cardiomyopathy, H...	OMIM:251000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Unsteady gait, Hyperproli...	ORPHA:79101
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Ataxia, Cryptorchidism, Sensorineura...	OMIM:300661
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati...	OMIM:201475
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Highly arched eyebrow, ...	OMIM:618161
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails	OMIM:617364
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Proteinuria, Congenital diaphragmatic hernia, Sensorineura...	ORPHA:2143
Multicentric Reticulohistiocytosis	Skin nodule, Cachexia, Histiocytosis	ORPHA:139436
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm...	ORPHA:107
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Meningococcal Meningitis	Shock, Papilledema, Renal insufficiency, Elevated circulating C-reactive protein concentration, H...	ORPHA:33475
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Membranoprolife...	ORPHA:48435
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Thrombocytopenia, Hyperconvex thumb nails, Absent lowe...	OMIM:620370
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy...	OMIM:261670
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Preauricular pit, Hepatomegaly, Portal hypertension, Malformation of ...	OMIM:208540
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Posteriorly r...	OMIM:611209
Bartter Syndrome Type 4	Renal salt wasting, Protruding ear, Nephrocalcinosis, Increased circulating renin level, Hyponatr...	ORPHA:89938
16P12.1P12.3 Triplication Syndrome	Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn...	ORPHA:485405
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Conducti...	OMIM:618885
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Erythrokeratodermia Variabilis	Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Patchy palmoplantar hyperkerat...	ORPHA:317
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Sensorineural hearing imp...	OMIM:269880
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hyperuricem...	ORPHA:348
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ...	OMIM:226300
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Ataxia, Facial palsy,...	ORPHA:456312
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Abnormality of skin pigmentation, Thin skin, Sparse hair, Sparse ...	ORPHA:1810
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Proteinuria, Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Hematuria...	OMIM:616901
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira...	ORPHA:91138
Marshall-Smith Syndrome	Optic atrophy, Thin skin, Conductive hearing impairment, Failure to thrive, Generalized hirsutism	ORPHA:561
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent...	ORPHA:3282
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Skeletal muscle atrophy, Elevated circulat...	ORPHA:98895
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Failure to thrive, Flexion contracture, Thin skin, Thenar muscle atrophy	ORPHA:157965
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalem...	ORPHA:369929
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Abnormal pinna morphology, Sparse eyebrow, Thin skin, Low-set ears, Hypocholes...	OMIM:244450
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inability to walk,...	OMIM:617804
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome...	ORPHA:824
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes...	ORPHA:352479
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Thin...	OMIM:617602
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hyperpigmentation of the skin, Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Nail ...	OMIM:175500
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Facial palsy, Decreased response to...	OMIM:615873
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Bre...	ORPHA:90153
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Peritonitis, Leukocytosis, Elevated...	ORPHA:90038
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Pancytopenia, Cryptorchidis...	ORPHA:85321
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperur...	ORPHA:134
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, S...	OMIM:151050
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi...	ORPHA:713
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner...	ORPHA:206436
Acquired Ichthyosis	Hyperkeratosis, Renal insufficiency, Palmoplantar keratoderma, Papule	ORPHA:454
Jeune Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Abnormality of the liver, Nephronophthi...	ORPHA:474
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hyp...	OMIM:227810
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal...	ORPHA:320
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Sensorineural hearing imp...	ORPHA:18
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, C...	ORPHA:647
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Cardiomyopathy, Hyper...	OMIM:606054
Laron Syndrome	Hypercholesterolemia, Hypoplasia of penis, Truncal obesity	ORPHA:633
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Optic atro...	ORPHA:2715
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Camptodactyly of finger, Thenar muscle atrophy, Cigarette-paper scars, Thin skin, ...	OMIM:612350
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Ketonuria, ...	ORPHA:466677
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Acute hepatitis, Tachycardia, Myositis, D...	ORPHA:39812
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur...	ORPHA:411536
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Sensorineural hearing impairment, Obesity, Hydronephrosis, Moderate albuminuria, Dentinogenesis i...	OMIM:619269
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Ataxia, Exercise-induced myoglobinuria, R...	OMIM:300653
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Ataxia, Sensorineural hearing impairment, Hyperuricosuria, Hyp...	ORPHA:411543
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Ataxia, Neutropenia, Macrothrombocytopenia, Aminoaciduria, Web...	OMIM:603585
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	OMIM:611773
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem...	ORPHA:79506
Alg9-Cdg	Large fleshy ears, Aplasia cutis congenita of scalp, Low-set, posteriorly rotated ears, Hepatomeg...	ORPHA:79328
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Abnormality of the subungual re...	ORPHA:335
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
De Barsy Syndrome	Decreased muscle mass, Inguinal hernia, Lipodystrophy, Cryptorchidism, Large earlobe, Athetosis, ...	ORPHA:2962
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Ataxia, EEG with abnormally slow frequencies, Congestive heart failure,...	ORPHA:70472
Trisomy 18	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Omphalocele, Camptodactyl...	ORPHA:3380
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Hypertension, Umbi...	OMIM:619758
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Cryptorchidism, Sensorineura...	ORPHA:1307
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack, Gait disturbance	OMIM:616779
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Pulmonary embolism, Subcutaneous nodule, Renal cyst...	ORPHA:744
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel...	ORPHA:892
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypoalbuminemia, Hypoc...	OMIM:246700
Overlap Myositis	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormality of the kidney...	ORPHA:206572
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality o...	ORPHA:52
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbumin...	ORPHA:90362
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Abnormality of retinal pigmentation, Ataxia, Heart ...	ORPHA:773
Premature Aging Syndrome, Penttinen Type	Flexion contracture of finger, Lipoatrophy, Skin nodule, Sensorineural hearing impairment, Palmop...	OMIM:601812
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells	OMIM:256150
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure, Abnormality of the auton...	ORPHA:43116
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Otitis media, Conductive ...	OMIM:122470
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio...	OMIM:300559
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Elbow flexion contracture, Knee fle...	ORPHA:371364
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Mevalonic Aciduria	Cerebellar atrophy, Optic disc pallor, Elevated hepatic transaminase, Normocytic hypoplastic anem...	OMIM:610377
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Recurrent urinary tract infections, Pancytopeni...	OMIM:613658
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Severe conductive hearing impairm...	ORPHA:230851
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, ...	ORPHA:440713
Variant Abeta2M Amyloidosis	Chronic kidney disease, Abnormal skeletal muscle morphology, Reduced left ventricular ejection fr...	ORPHA:314652
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Small earlobe, Absent eyeb...	OMIM:264090
Tularemia	Tachycardia, Thrombocytopenia, Leukocytosis, Localized skin lesion, Otitis media, Anemia	ORPHA:3392
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern...	ORPHA:1435
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Alopecia, Proteinuria, Myositis, Raynaud phenomenon, Hematuria, ...	ORPHA:93552
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Cardiomyopat...	ORPHA:119
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large ...	OMIM:616026
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Renal insufficiency, Hypoplasia of penis, Femoral hernia, Inguinal hernia, ...	ORPHA:96147
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con...	OMIM:619743
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Abnormality of the kidney, Sensorineural hearing...	ORPHA:895
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Anemia, Type I diabetes mellitus, Atrial s...	ORPHA:290
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Optic atrophy, Renal hypoplasia, Nephr...	OMIM:617913
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia	ORPHA:79242
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hurler Syndrome	Hepatomegaly, Angina pectoris, Camptodactyly of finger, Splenomegaly, Abnormality of skin pigment...	ORPHA:93473
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Scarring, Abnormality of subcutaneous fat tissue, Thin skin	ORPHA:1899
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma...	ORPHA:275872
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Hyperpigmentation of the skin, Dysuria,...	ORPHA:95455
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Abnormality of the kidney, Ataxia...	OMIM:209900
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous sys...	ORPHA:85447
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Thrombocytopenia, Optic atrophy, Fine hair, Premature graying of ...	OMIM:612199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Subcutaneous nodule, Oliguria, Weight loss, Progressive h...	ORPHA:514
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Congestive heart failure, Leukocytosis, Weight loss...	ORPHA:67
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Suprav...	OMIM:181270
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Adult onset se...	ORPHA:90324
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Amin...	OMIM:619991
Ohdo Syndrome	Proteinuria, Sparse eyebrow, Cryptorchidism, Microtia, Stenosis of the external auditory canal, H...	OMIM:249620
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegal...	OMIM:615688
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Palmoplantar hyperkeratosis, Telangiectasia, Erythema...	ORPHA:158673
Distal Deletion 10Q	Failure to thrive, Abnormal morphology of the vestibule of the inner ear, Ataxia, Scapular wingin...	ORPHA:96148
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, 3-Methylglutaric aciduria, Lethargy, Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, D...	ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria, Palpitations, Decreased activity of mitochondrial...	OMIM:618250
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac...	ORPHA:1775
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro...	ORPHA:2494
Joubert Syndrome 14	Posteriorly rotated ears, Ataxia, Highly arched eyebrow, Optic atrophy, Renal cyst, Intracranial ...	OMIM:614424
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congest...	ORPHA:90033
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ...	OMIM:232600
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,...	ORPHA:920
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,...	OMIM:233450
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Nevus flammeus, Hepatoblastoma, Diastasis recti, Cardiomegaly, Cryptor...	OMIM:130650
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Highly arched eyebrow, ...	ORPHA:261494
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Myopathy, Arrhythmia, M...	ORPHA:104
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Posteriorly rotated ears, Prominent ear helix, Cryptorchidism, Flexion contractu...	OMIM:614438
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Cryptorchidism, Aplasia/Hypopl...	ORPHA:98791
Leiomyomatosis, Diffuse, With Alport Syndrome	High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran...	OMIM:308940
Werner Syndrome	Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Premature graying of hair, R...	ORPHA:902
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria...	OMIM:607155
Juvenile Paget Disease	Abnormality of retinal pigmentation, Subcutaneous nodule, Optic atrophy, Melanocytic nevus, Hyper...	ORPHA:2801
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Ataxia, EEG with generalized slow ac...	ORPHA:99027
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hyp...	OMIM:615415
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M...	OMIM:619518
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Cryptorchidism, Jaundice, EEG with burst suppression, Optic atroph...	OMIM:614231
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Epispadias, Micropenis, Ovarian serous cystadenoma, Muscle hypertrophy ...	ORPHA:1772
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysmetri...	OMIM:601338
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Increased mitochondrial number, Macrocytic anemia, Methylmalonic aciduri...	OMIM:615578
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Thin skin, Hernia	ORPHA:75497
Ataxia-Telangiectasia	Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Aplasia/Hypoplasia of the s...	ORPHA:100
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia...	OMIM:602668
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Acantholysis, Orthokeratosis, Palmoplantar keratoderma, Hypoalbuminemia,...	OMIM:615508
Johanson-Blizzard Syndrome	Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Abnormality of the pancreas, S...	ORPHA:2315
X-Linked Agammaglobulinemia	Alopecia, Thrombocytopenia, Sensorineural hearing impairment, Cellulitis, Hypopigmented skin patc...	ORPHA:47
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolin...	OMIM:616299
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Inguinal hernia, Ataxia, Unilateral renal agenesis, Ectopic kidney...	OMIM:616541
Glass Syndrome	Broad-based gait, Inguinal hernia, Posteriorly rotated ears, Facial hypotonia, Long eyelashes, Th...	OMIM:612313
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level...	OMIM:606812
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Cerebral atro...	ORPHA:445038
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Optic atrophy, Premature graying...	ORPHA:33445
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa...	ORPHA:186
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Even-Plus Syndrome	Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal hypoplasia, Microtia,...	OMIM:616854
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Joubert Syndrome 4	Renal insufficiency, Ataxia, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, N...	OMIM:609583
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, In...	ORPHA:231625
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Tachycardia, Interictal EEG abnormality, Cerebral atrophy,...	ORPHA:79264
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Increased connective tissue, Scarring alopecia of scalp, Palmoplantar hyperke...	OMIM:226670
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Inability to ...	ORPHA:52368
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,...	ORPHA:188
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Dermotrichic Syndrome	Aganglionic megacolon, Hyperconvex toenail, EEG abnormality, Aminoaciduria, Nail dystrophy, Macro...	ORPHA:99688
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Hepatocellular carci...	OMIM:176000
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoal...	OMIM:616267
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobin...	OMIM:268200
Alexander Disease Type I	Cerebellar atrophy, Failure to thrive, Ataxia, Cachexia	ORPHA:363717
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large...	OMIM:600501
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Nephrotic syndrom...	ORPHA:575
Cln3 Disease	Cerebellar atrophy, Ataxia, Left ventricular hypertrophy, Vacuolated lymphocytes, Optic atrophy, ...	ORPHA:228346
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Hype...	OMIM:610475
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Noonan Syndrome 12	Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia	OMIM:618624
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephr...	OMIM:215250
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Hypercholesterolemia, Obesity	ORPHA:254531
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Elliptocytosis, Micro...	ORPHA:86818
Lamellar Ichthyosis	Renal insufficiency, Hyperkeratosis, Sparse hair, Abnormal helix morphology, Chronic otitis media...	ORPHA:313
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti...	ORPHA:3208
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ...	OMIM:609136
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Hepatic fibrosis, Low-...	OMIM:200995
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Low-set ears, Web...	OMIM:617478
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Anemia, Stage 5 ch...	OMIM:222700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Branchiootorenal Syndrome 1	Conductive hearing impairment, Vesicoureteral reflux, Preauricular pit, Facial palsy, Dilatated i...	OMIM:113650
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Sensorineural hearing impairment,...	OMIM:300519
Trisomy 10P	Absent gallbladder, Decreased muscle mass, Small for gestational age, Abnormality of the kidney, ...	ORPHA:171929
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Hepatic failure, Anemia	ORPHA:75233
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Typ...	OMIM:301078
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hyperkeratosis, T...	ORPHA:281090
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Hepatosplenomeg...	ORPHA:464329
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Weight loss, Abnormality of mitochondrial metabolism, Leu...	ORPHA:33355
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Bilateral se...	ORPHA:397744
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Ataxia, Epista...	ORPHA:33226
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Br...	ORPHA:2750
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Pmm2-Cdg	Multiple joint contractures, Intracranial hemorrhage, Hypoalbuminemia, Hepatic fibrosis, Aplasia ...	ORPHA:79318
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Failure to thrive, Hep...	ORPHA:300536
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Thin s...	ORPHA:90154
Yellow Fever	Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Neutrophilia, El...	ORPHA:99829
Immunodeficiency 43	Subcutaneous nodule, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalb...	OMIM:241600
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Thin skin	ORPHA:230839
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Horsesho...	ORPHA:99776
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol, Lethargy	OMIM:229700
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno...	ORPHA:210136
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Abnormality of conn...	ORPHA:79128
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia	OMIM:152700
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau...	ORPHA:160
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi...	OMIM:246450
Seckel Syndrome 10	Skin tags, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulatin...	OMIM:617253
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Truncal obesity, Increased circulating cortisol lev...	OMIM:219080
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
Nail-Patella Syndrome	Ridged nail, Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pec...	OMIM:161200
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Myocardial infarction, Pituitary corticotropic cell adeno...	ORPHA:99889
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatomegaly, Hemolytic anemia, Pancytopenia, Hematemesis, Increased circulat...	OMIM:615846
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, Cachexia, Hematochezia, Mele...	ORPHA:79076
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia	OMIM:620184
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Addison Disease	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Decreased c...	ORPHA:85138
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Iron deficiency anemia, Urinary bladder sphincter dysfun...	ORPHA:79408
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem...	OMIM:277380
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo...	OMIM:619897
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Inguinal hernia, Mitral regurgitation, Atrophic scars, Thin skin	OMIM:225320
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Recurrent otitis media, Hype...	ORPHA:96184
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Abnormality of skin pigmentation,...	ORPHA:743
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Tachycardia, Hypoproteinemia	OMIM:221400
Boutonneuse Fever	Macule, Elevated hepatic transaminase, Renal insufficiency, Skin nodule, Vasculitis, Leukopenia, ...	ORPHA:83313
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Sensorineural h...	OMIM:613159
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Sensorineural hearing...	OMIM:602152
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr...	OMIM:615630
Microsporidiosis	Myositis, Cholangitis, Cachexia, Abnormality of the spleen, Skin nodule, Urethritis, Peritonitis,...	ORPHA:2552
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Skeletal muscle hypertrophy, Hypertension, Hepa...	OMIM:613877
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypospadias, Increased circulating corticosterone level, El...	ORPHA:90793
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureter...	OMIM:617641
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy...	ORPHA:99901
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Knee flexion contracture, Contracture of the proximal interphalangeal ...	OMIM:601559
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Hyper...	OMIM:619471
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Atrophy/Degeneration affecting th...	OMIM:614946
Orofaciodigital Syndrome I	Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Cerebral atrophy, Hypertension, Ovarian cyst, ...	OMIM:311200
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Thin skin	OMIM:259410
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cryptorchidism, Heart murmur, Microtia, Multiple bladder diverticula, Recurrent otit...	ORPHA:2728
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of the thymus, Hepatoblastom...	ORPHA:84064
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Posteriorly rotated ears, Thin skin, Low-set ears	OMIM:201170
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph...	OMIM:500013
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Arterial rupture, Bladder...	OMIM:225400
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation, Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism	ORPHA:745
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Sparse eyelash...	OMIM:613610
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Hyperpigmentation of the skin, Renal salt wasting...	ORPHA:90795
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thicke...	OMIM:146255
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Alopecia, Congestive heart failure, Myocarditis, Leukocytosis,...	ORPHA:31824
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Low-set ears, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticome...	OMIM:618541
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephro...	ORPHA:416
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural...	OMIM:619260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper...	OMIM:208500
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ears, ...	ORPHA:536467
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Shock, Renal insufficiency, Lymphopenia, Elevated circulating C-re...	ORPHA:319213
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Cardiomyopathy	OMIM:105120
Nephroblastoma	Weight loss, Hematuria, Neoplasm of the liver, Hypertension, Nephroblastoma	ORPHA:654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls...	ORPHA:521219
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Lipoatrophy, Polycystic ovaries, Hypertension, Xanthomatosis, Hepatic steatosis, Pa...	ORPHA:79084
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Hip contracture, Flexion contracture of finger, Inguinal hernia, Small for ge...	OMIM:193700
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria...	ORPHA:77259
Takayasu Arteritis	Myocardial infarction, Vasculitis, Subcutaneous nodule, Skin ulcer, Weight loss, Anemia, Hyperten...	ORPHA:3287
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Highly...	ORPHA:2162
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Sparse scalp hair, Numerous nevi, Multiple joint contractures,...	ORPHA:536471
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Low-set ears, Sple...	OMIM:618188
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Highly arched eyebrow, Ataxia...	OMIM:220111
Flynn-Aird Syndrome	Alopecia, Ataxia, Hyperkeratosis, Dermal atrophy, Progressive sensorineural hearing impairment, A...	OMIM:136300
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Vertigo,...	ORPHA:284
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop...	OMIM:613839
Arterial Tortuosity Syndrome	Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion co...	OMIM:208050
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Central Diabetes Insipidus	Hyponatremia, Weight loss, Lethargy, Failure to thrive, Nocturia	ORPHA:178029
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Obesity, Hypertension, Childhood-onset truncal ob...	ORPHA:71529
Au-Kline Syndrome	Sacral dimple, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, Chronic ki...	OMIM:616580
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Cardiac arrest...	ORPHA:139402
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Cachexia, Abnormal...	ORPHA:2072
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat...	ORPHA:398124
Gaucher Disease	Hepatomegaly, Pancytopenia, Proteinuria, Ataxia, Elevated circulating C-reactive protein concentr...	ORPHA:355
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t...	ORPHA:231226
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Elevated hepatic transaminase, Renal insufficiency, Hypospadia...	ORPHA:397715
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic...	OMIM:222448
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce...	OMIM:603813
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Urinary incontinence, U...	ORPHA:206448
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Lipodystrophy, Loss of subcutaneous adipos...	OMIM:248370
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Prim...	OMIM:615474
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Periventricular Nodular Heterotopia	Aortic regurgitation, Thin skin, Hernia	ORPHA:98892
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, EEG abnormality, Hypopla...	ORPHA:2065
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Ataxia, Dilated cardiomyopathy, Cerebral atrophy, Gait ataxia, Hypsarr...	OMIM:618321
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Low-set ears, Renal dysplasia	OMIM:191830
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Fanconi Anemia	Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver, Hypospadias, Cryptorchidi...	ORPHA:84
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Gait apraxia, Gait ataxia, EEG abnormality, Truncal ataxia, Ab...	OMIM:312750
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Athetosis	ORPHA:52503
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Ata...	ORPHA:466650
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis	OMIM:134610
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:609057
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Acquired Methemoglobinemia	Tachycardia, Vertigo, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ...	OMIM:204690
Usher Syndrome Type 1	Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor...	ORPHA:231169
Arterial Tortuosity Syndrome	Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni...	ORPHA:3342
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Lipoatrophy, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, ...	ORPHA:276280
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Polycystic ovarie...	ORPHA:90301
Melorheostosis With Osteopoikilosis	Hypertension, Subcutaneous nodule, Multiple lipomas	ORPHA:1879
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomegaly, Lethargy, Generalized bronze hyperpigmentation, Hepatomegaly...	ORPHA:465508
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, C...	ORPHA:904
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Unconjugated...	OMIM:300908
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Joubert Syndrome 3	Ataxia, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary retinopathy, Low-set ea...	OMIM:608629
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hyper...	OMIM:231530
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec...	OMIM:617294
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Bilateral cryp...	OMIM:619685
Wagro Syndrome	Proteinuria, Obesity, Hypertension, Low-set ears, Nephroblastoma, Decreased testicular size	OMIM:612469
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c...	ORPHA:264675
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Congestive heart failure, Pa...	ORPHA:363618
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Osteoma cutis, Decreased response to growth hormone stimulatio...	ORPHA:79443
Stevens-Johnson Syndrome	Macule, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Gastrointestin...	ORPHA:36426
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Broad-based gait, Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Brain atrophy	OMIM:206570
Porokeratosis Of Mibelli	Hyperkeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Hypertension, Macrotia, Thin skin	ORPHA:449291
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Increased circulating prolactin concentration, Macr...	ORPHA:90674
Teratoma, Pineal	Polyuria	OMIM:273120
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ...	OMIM:610644
Nail-Patella Syndrome	Decreased muscle mass, Flexion contracture, Knee flexion contracture, Nephritis, Abnormality of t...	ORPHA:2614
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, L...	ORPHA:423479
Pulmonary Blastoma	Weight loss	ORPHA:64741
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,...	ORPHA:3027
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges...	ORPHA:727
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the kidney, Elevated c...	ORPHA:54251
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemia, Hypsarrhyth...	OMIM:220120
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Sens...	ORPHA:79330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Pancytopenia, Telangiectasia of the skin, Hyperpigmenta...	ORPHA:542643
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Small for gestational age, Thin skin	OMIM:166210
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Syncope, T-wave...	OMIM:611528
Scrub Typhus	Macule, Renal insufficiency, Splenomegaly, Myocarditis, Hypotension, Lethargy	ORPHA:83317
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Ataxia, Highly arc...	ORPHA:220497
Piebald Trait-Neurologic Defects Syndrome	Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abn...	ORPHA:2885
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Thrombocytopenia	OMIM:611126
Neuhauser Syndrome	Ataxia, Cupped ear, Low anterior hairline, Large fleshy ears, Hypercholesterolemia, Cerebral cort...	OMIM:249310
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hy...	OMIM:602541
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Pericarditis, Generalized hyperpigmentation, Sp...	ORPHA:47612
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Cachexia, Subcutaneous nodule, Telangiectasia, Intracra...	ORPHA:109
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Sensorineural hearing i...	ORPHA:1215
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Abnormality of the subungual region, Abnormality of skin pigmentation, Atrophic sca...	ORPHA:79411
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent...	OMIM:275210
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th...	ORPHA:847
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Hypov...	ORPHA:223
Toxic Epidermal Necrolysis	Macule, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Gastrointestin...	ORPHA:537
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Distal amyotrophy...	OMIM:618400
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, ...	ORPHA:810
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Vertigo, Sensorineural hearing impairment, Hypertensi...	OMIM:193300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Posteriorly rotated ears, Hypertension, Patchy alopecia, Low-set ears, Sparse...	OMIM:617763
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Sensorineural hearing impairment, Ragg...	OMIM:603041
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Eec Syndrome	Decreased response to growth hormone stimulation test, Urethral atresia, Coarse hair, Hypoplasia ...	ORPHA:1896
Vascular Ehlers-Danlos Syndrome	Subcutaneous nodule, Protruding ear, Abnormality of skin pigmentation, Internal hemorrhage, Macul...	ORPHA:286
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, M...	ORPHA:199299
Relapsing Polychondritis	Macule, Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Chondritis of pinna, Pericard...	ORPHA:728
Nelson Syndrome	Increased urinary cortisol level, Generalized hyperpigmentation, Testicular neoplasm, Quadriceps ...	ORPHA:199244
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Small for gestational age, Cardiac shunt, Cardiomegaly, Congestive hea...	ORPHA:860
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Hypoplastic fingernail, Microtia, third degree, Omphalocele, Abse...	OMIM:200110
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Autoimmune hypoparathyroi...	ORPHA:36913
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Cryptorchidism, He...	OMIM:612541
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Ataxia, Highly arc...	ORPHA:2318
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Inguinal hernia, Chronic ...	ORPHA:500095
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Sparse axillary hair...	ORPHA:91355
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar kerato...	ORPHA:79402
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Premature graying of hair, Vesicoureteral reflux, Micropen...	OMIM:194050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Agangli...	ORPHA:653
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary catecholamine level, Pulsatile tinni...	OMIM:115310
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia	OMIM:222300
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,...	OMIM:617052
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypospadias, Renal salt wasting	OMIM:201910
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress...	ORPHA:652
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fib...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fib...	ORPHA:99228
Monosomy X	Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fib...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Hepatic fib...	ORPHA:881
Monosomy 18P	Alopecia, Protruding ear, Low posterior hairline, Abnormal antihelix morphology, Hypertension, We...	ORPHA:1598
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Abnormality of cartilage of external ear, Heart murmur, Hypocalc...	ORPHA:3426
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Postauricular pit, Hepatoblastoma, Posterior helix p...	OMIM:312870
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Pancreatitis, Myocarditis, Leukocytosis, Hyperkalemia, Ol...	ORPHA:544482
Lassa Fever	Shock, Jaundice, Oliguria, Hearing impairment	ORPHA:99824
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline	OMIM:617523
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Cryptorchidism, Cupped ear, Gait imbalance, Low-set ears, Vesicoureteral ref...	OMIM:617159
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of...	ORPHA:217085
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Anonychia, Generalized hirsutism	ORPHA:1563
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Vici Syndrome	Lymphopenia, Hypopigmentation of hair, Left ventricular hypertrophy, Elevated circulating creatin...	OMIM:242840
Pendred Syndrome	Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ...	ORPHA:705
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Sensorineural hearing impairment, Schis...	OMIM:616084
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Posteriorly rotated ears, Congenit...	ORPHA:1272
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr...	OMIM:601214
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Aplasia/Hypoplasia of the skin, Inguinal hernia, Ca...	ORPHA:2990
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Weight loss	ORPHA:100083
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of...	ORPHA:217093
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Fine hair, Nail pits, ...	ORPHA:978
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary ...	OMIM:306955
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia	ORPHA:2479
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Stage 5 chronic kidney dis...	ORPHA:1018
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Neutropenia, Letharg...	ORPHA:124
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, We...	ORPHA:33001
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Usher Syndrome Type 3	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I...	ORPHA:231183
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Localized skin lesion, Enamel hypoplasia, Atrophic scars, Abnormality of the ...	ORPHA:79409
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Subcutaneous nodule, Opt...	ORPHA:1555
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Idiopathic Bronchiectasis	Myocardial infarction, Cachexia	ORPHA:60033
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Jaundice, Congest...	ORPHA:525731
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Malformation of the hepatic ductal ...	OMIM:218330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Coccidioidomycosis	Urticarial plaque, Abnormality of the spleen, Verrucous papule, Abnormality of the liver, Papule,...	ORPHA:228123
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Macroglossia, ...	ORPHA:412217
Secondary Intestinal Lymphangiectasia	Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal...	ORPHA:90363
Joubert Syndrome 2	Renal insufficiency, Ataxia, Optic disc coloboma, Renal cyst, Nephronophthisis, Low-set ears, Fai...	OMIM:608091
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Vertigo, Ventricular tachycardia, Left bundle branch block, Asymmetric sept...	OMIM:608758
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Abnormal atrioventricular valve phy...	ORPHA:1329
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive, Long eyelashes, Papule	OMIM:616069
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Dysmetria, Increased LDL ...	OMIM:277460
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma...	ORPHA:2036
Tuberous Sclerosis Complex	Epidermoid cyst, Renal cyst, Pheochromocytoma, Ungual fibroma, Internal hemorrhage, Abnormality o...	ORPHA:805
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Partial albinism, Epi...	ORPHA:79430
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, ...	ORPHA:536
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Sacral dimple, Hydronephrosis, Enlarged kidney	OMIM:314390
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Thi...	OMIM:103285
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic stroke, Lymphopenia	OMIM:182410
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Vertigo, Leukocytosis, We...	ORPHA:520
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia	OMIM:613027
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ...	ORPHA:79404
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Thin s...	OMIM:112250
Behçet Disease	Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi...	ORPHA:117
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Megabladder, Congenital	Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney ...	OMIM:618719
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Anemia, ...	OMIM:606003
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica...	ORPHA:231632
Liddle Syndrome 1	Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Hyperpigmentation of the skin, Facial palsy, Campt...	ORPHA:90340
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71526
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide...	ORPHA:79477
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormality of the upper urinary tract, H...	ORPHA:1807
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia	OMIM:600666
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Elevated circulating creatine kinase concentration, Pericardial effusi...	OMIM:618775
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Adrenal pheochromocytoma, Palpita...	OMIM:168000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Renal cyst, Knee flexion contracture, Sparse hair, Micropenis, Sparse eyebro...	OMIM:210710
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Conge...	ORPHA:974
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con...	ORPHA:3240
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Hearing abnormality, Weight loss, Hernia, Hypertrophic cardiomyopathy, Failure to t...	ORPHA:1842
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian ...	ORPHA:95699
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous...	OMIM:618999
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:619463
Erdheim-Chester Disease	Renal insufficiency, Ataxia, Dysuria, Retroperitoneal fibrosis, Congestive heart failure, Weight ...	ORPHA:35687
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormal dental enamel morphology, A...	ORPHA:96169
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Vesicoureteral reflux, Sma...	ORPHA:567
Chediak-Higashi Syndrome	Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Foot dorsiflexo...	OMIM:214500
Glutaric Aciduria Iii	Glutaric aciduria, Failure to thrive, Hypertension, Goiter	OMIM:231690
Fanconi Anemia, Complementation Group F	Sacral dimple, Failure to thrive, Hyperpigmentation of the skin, Decreased response to growth hor...	OMIM:603467
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Vertigo, Increased hemoglobin, Increase...	OMIM:133100
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Vasculitis, Pyelonep...	OMIM:610984
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiom...	OMIM:613989
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Generaliz...	ORPHA:361
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impa...	OMIM:301040
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Hypoglycemia, Hyperammonemia	OMIM:616483
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, S...	ORPHA:758
Acute Interstitial Pneumonia	Hypertension, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circula...	ORPHA:79126
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Sensorineural hearing impairment, Proteinuria, Renal artery stenosis	OMIM:209010
Sengers Syndrome	Hypertrophic cardiomyopathy, Thrombocytopenia	OMIM:212350
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid co...	ORPHA:381
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp...	ORPHA:79133
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Congenital diaphragmatic hern...	OMIM:300887
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splen...	OMIM:604173
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Pendred Syndrome	Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural...	OMIM:274600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Catecholaminergic Polymorphic Ventricular Tachycardia	Vertigo, Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Hepatomegaly, Sacral dimple, Abnormality of retinal pigmentati...	ORPHA:175
Stiff-Person Syndrome	Tachycardia, Anemia, Hypertension, Proximal limb muscle stiffness, Vitiligo, Asymmetric limb musc...	OMIM:184850
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An...	OMIM:618835
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair	OMIM:614613
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Optic neuropathy, Calcium oxalate nephrolithiasis, Raynaud ph...	OMIM:259900
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkeratosis, Sync...	OMIM:615821
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Optic atrophy, Numerous pigmented freckles, Dermal atrophy, Hearing impairment	ORPHA:220295
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Bone spicule pigmentation of the retina, Obesity	OMIM:615986
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera...	ORPHA:96179
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki...	OMIM:227650
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia	OMIM:612736
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Adrenal pheochromocytoma, Palpita...	OMIM:605373
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hypertension, Hepatic steatosis, Increased C-p...	OMIM:615238
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ...	ORPHA:273
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Homozygous Familial Hypercholesterolemia	Angina pectoris, Optic neuropathy, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, T...	ORPHA:391665
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ...	OMIM:300845
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hyperpigme...	OMIM:600901
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Decreased nerve conduction velocity, Vertigo, Subcutaneous nodule, Cystocele, Ap...	ORPHA:285
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem...	ORPHA:469
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p...	ORPHA:57777
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Hypoglycemia, Thrombocytopenia	OMIM:617710
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Hypopigmented macule, Pancytopenia, Renal agenesis, Small for gesta...	OMIM:227645
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia...	OMIM:601005
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism...	OMIM:203300
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Gm1 Gangliosidosis	Failure to thrive, Inguinal hernia, Ataxia, Camptodactyly of finger, Splenomegaly, Congestive hea...	ORPHA:354
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Increased body weight, Hypertension, Abdominal obesity, Increas...	OMIM:615954
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Nephrocalcinosis, Conductive hearing impairment, Hypophosphatemic rickets, Weak pul...	ORPHA:51608
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Intestinal Dysmotility Syndrome	Failure to thrive, Low-set ears, Weight loss	OMIM:620045
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Alkaptonuria	Myocardial infarction, Hearing abnormality, Nephrolithiasis, Abnormality of skin pigmentation, Hy...	ORPHA:56
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenom...	ORPHA:97289
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O...	ORPHA:220393
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly, Hypertension, Microtia, Low-set ears, Pulmonary arterial...	OMIM:613320
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, ...	ORPHA:342
High Altitude Pulmonary Edema	Leukocytosis, Vertigo, Tachycardia	ORPHA:330012
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Hypertension, Urinary bladder sphinct...	ORPHA:93256
Immunoglobulin A Vasculitis	Macule, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Proteinuria, Orchitis, ...	ORPHA:761
Beare-Stevenson Cutis Gyrata Syndrome	Skin tags, Preauricular pit, Hypospadias, Posteriorly rotated ears, Optic atrophy, Hypertension, ...	OMIM:123790
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Hypereosinophilia, Vaginal ...	ORPHA:2035
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ...	ORPHA:449400
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol...	ORPHA:401973
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo...	ORPHA:894
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Tuberculosis	Weight loss	ORPHA:3389
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Yellow papule, Angina pectoris, Congestive heart failure, Retinal he...	OMIM:264800
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Verrucous epidermal nevus, Congenital pos...	ORPHA:79414
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials	OMIM:109120
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi...	OMIM:607459
Papa Syndrome	Myositis, Proteinuria, Skin ulcer	ORPHA:69126
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Tricuspid regurgitation, Lymphopenia, Highly arched eyebrow,...	OMIM:618460
Costello Syndrome	Sparse hair, Deep-set nails, Thin nail, Concave nail, Vestibular schwannoma, Low-set ears, Nevus,...	OMIM:218040
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone...	ORPHA:403
Huntington Disease	Caudate atrophy, Inability to walk, Cerebral atrophy, Weight loss, Bradykinesia, Abnormal circula...	ORPHA:399
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Pretibial hyperpigmentation, Atrophic scars, Thin skin, Umbilical...	OMIM:130080
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropa...	ORPHA:909
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Aganglionic megacolon, Ge...	ORPHA:3339
Hyperuricemia, Hprt-Related	Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Huntington Disease-Like 2	Caudate atrophy, Gait disturbance, Cerebral cortical atrophy, Weight loss	ORPHA:98934
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracrani...	ORPHA:404
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Ataxia, Splenomegaly, Thrombocytopenia, Hematuria, Gait ...	ORPHA:77261
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of...	ORPHA:251061
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, Wh...	ORPHA:897
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Ataxia, Progressive flexion contractures, Gait ataxia, Bradykinesia, Hypertension, T...	ORPHA:98808
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dysplas...	OMIM:308205
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin...	ORPHA:2126
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hearing im...	OMIM:227646
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Protruding ear, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eyebrow, ...	OMIM:614527
Diamond-Blackfan Anemia 10	Macrocytic anemia, Posteriorly rotated ears, Hearing impairment, Ectopic kidney, Congenital diaph...	OMIM:613309
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Palmoplantar keratoderma, Weight loss	ORPHA:2198
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnorm...	ORPHA:2028
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Para...	ORPHA:2237
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Vertigo, Ventricular tachycardia, Premature ventricular con...	OMIM:614916
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Acantholysis, Leu...	ORPHA:293173
Schinzel-Giedion Syndrome	Renal cyst, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ovary, Hypospadias, Hypsarrhythm...	ORPHA:798
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, EEG abnormality, Hypopigmentation of...	ORPHA:411515
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,...	ORPHA:1901
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt...	OMIM:268315
Leptospirosis	Papilledema, Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary ca...	ORPHA:509
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypertrichosis	OMIM:247410
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi...	OMIM:605676
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of...	OMIM:619573
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Marshall-Smith Syndrome	Brittle hair, Bilateral cryptorchidism, Synophrys, Sparse hair, Highly arched eyebrow, Cryptorchi...	OMIM:602535
Digeorge Syndrome	Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Parathyroid ag...	OMIM:188400
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
African Trypanosomiasis	Erythematous macule, Urinary incontinence, Choreoathetosis, Papilledema, Alopecia, Hepatomegaly, ...	ORPHA:3385
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Nail dystrophy, Ab...	ORPHA:89843
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ...	ORPHA:181
Hallermann-Streiff Syndrome	Sparse scalp hair, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, O...	OMIM:234100
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Ataxia, Dysuria, Sensorineural h...	ORPHA:3463
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Cholestatic liver disease, Acholic stools, ...	ORPHA:65682
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Legius Syndrome	Inguinal freckling, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Axillary freckling, ...	ORPHA:137605
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hypertension, Abnormality of the urinary system, Hyperaldosteronism, Decreas...	OMIM:103900
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Heart block, Periauricular skin pits, Atrophic scars, Skin pit, ...	ORPHA:79100
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Neurofibromatosis Type 1	Macule, Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentatio...	ORPHA:636
Pure Mitochondrial Myopathy	Waddling gait, Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyoly...	ORPHA:254854
Dyskeratosis Congenita, X-Linked	Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop...	OMIM:305000
Mirage Syndrome	Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymph...	OMIM:617053
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Elevated hepatic transaminase, Facial palsy, Elevated circulating creatine ki...	OMIM:610131
Duane Retraction Syndrome	Skeletal muscle atrophy, Central heterochromia, Patchy hypopigmentation of hair, Ectopic kidney, ...	ORPHA:233
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Horseshoe kidney, Pelvic kidney, Vitiligo, Cafe-au-lait spot, Anemi...	OMIM:613951
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure...	ORPHA:30
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara...	ORPHA:139417
Hereditary Methemoglobinemia	Cerebellar atrophy, Small for gestational age, Temporal cortical atrophy, Athetosis, Frontal cort...	ORPHA:621
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Fanconi Anemia, Complementation Group O	Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence, Hydronephrosis	OMIM:613390
Osteogenesis Imperfecta, Type I	Otosclerosis, Dentinogenesis imperfecta, Thin skin, Hearing impairment	OMIM:166200
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Hepatic Lipase Deficiency	Hypertriglyceridemia, Angina pectoris, Eruptive xanthomas, Increased HDL cholesterol concentratio...	OMIM:614025
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Obesity	OMIM:618821
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Abnormal renal cor...	OMIM:617397
Cystinuria	Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis	ORPHA:214
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Low-set ears	ORPHA:2165
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Thin skin, Low-se...	OMIM:618175
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Seckel Syndrome	Sparse scalp hair, Abnormal dental enamel morphology, Cachexia, Abnormal earlobe morphology, Abse...	ORPHA:808
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Left ventric...	OMIM:612158
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Listeriosis	Pericarditis, Liver abscess, Ataxia, Congestive heart failure, Jaundice, Peritonitis, Myocarditis...	ORPHA:533
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop...	ORPHA:31150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Thrombocytopenia, Hear...	ORPHA:163979
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Blotching p...	OMIM:614653
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Joubert Syndrome 7	Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Facial hypotonia, Cardiomegaly, Inability to walk, Synophrys, ...	ORPHA:97297
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Conductive h...	ORPHA:391641
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Aplasia cutis congenita, Microtia, Flexion contracture	OMIM:612138
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Posteriorly rotated ears, Synophrys, Pulmonic stenosis, Low-set ears, Conductive hearing impairme...	OMIM:617877
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Weight loss, Hypoplasia of the ear cartilage, Mastocytosis	ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Primary Progressive Freezing Gait	Urinary incontinence, Bradykinesia, Hypertension, Shuffling gait, Gait imbalance, Difficulty walk...	ORPHA:75567
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Joint contracture, Failure...	OMIM:616881
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Renal hypopla...	OMIM:619321
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C...	OMIM:620005
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis,...	ORPHA:781
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d...	ORPHA:1647
Myhre Syndrome	Abnormal penis morphology, Inguinal hernia, Hypospadias, Femoral hernia, Epispadias, Cryptorchidi...	ORPHA:2588
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S...	ORPHA:289176
Ulerythema Ophryogenesis	Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, Hyperkeratotic papule, Sparse lat...	ORPHA:3406
Pyomyositis	Renal insufficiency, Myositis, Sudden cardiac death, Leukocytosis, Subcutaneous nodule, Weight lo...	ORPHA:764
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, External ear malformation, Cryptorchidism, Obesity,...	ORPHA:251071
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid...	OMIM:608978
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa...	OMIM:267010
Piebaldism	Macule, Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, ...	ORPHA:2884
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Kikuchi-Fujimoto Disease	Erythematous macule, Elevated circulating C-reactive protein concentration, Leukopenia, Lymphocyt...	ORPHA:50918
Arteriosclerosis, Severe Juvenile	Anemia, Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Aplasia/Hypoplasia of the skin, Heterochromia iridis	ORPHA:1214
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive...	ORPHA:90646
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Developmental And Epileptic Encephalopathy 50	Broad-based gait, Acanthocytosis, Oroticaciduria, Schistocytosis, Anisopoikilocytosis, Hyperammon...	OMIM:616457
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	ORPHA:169090
Kawasaki Disease	Abnormality of nail color, Pericarditis, Proteinuria, Congestive heart failure, Jaundice, Vasculi...	ORPHA:2331
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Epispadias, Abnormality of the ear, Abnormality of skin pigmenta...	ORPHA:2556
Smith-Kingsmore Syndrome	Hypoglycemia, Thrombocytopenia	OMIM:616638
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Posteriorly rotated ears, Sparse eyelashes, Low anterior hairline...	ORPHA:1787
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia	ORPHA:169105
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Desmosterolosis	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the skin, Renal agenesis, Renal hypoplas...	ORPHA:35107
Adams-Oliver Syndrome 2	Alopecia, Optic atrophy, Low anterior hairline, Cerebral atrophy, Protruding ear, Low-set ears, S...	OMIM:614219
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Gait ataxia, Weight loss, Bradykinesia, Progressive...	ORPHA:248111
Obesity And Hypopigmentation	Red hair, Hepatic steatosis, Obesity	OMIM:620195
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Oligozoospermia, Hyperten...	ORPHA:786
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital dia...	OMIM:618280
Humeroradial Synostosis	Renal insufficiency, Small earlobe, Microtia	OMIM:236400
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Conductiv...	ORPHA:199
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Yunis-Varon Syndrome	Sparse scalp hair, Hypospadias, Abnormal pinna morphology, Sparse eyelashes, Cardiomegaly, Sparse...	ORPHA:3472
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Eruptive xanthomas, Increased circulating chylo...	OMIM:207750
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Ataxia, Decreased activity of...	OMIM:614947
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Hypertension, Increa...	OMIM:615830
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:818
Kaposi Sarcoma	Macule, Hypermelanotic macule, Abnormality of the spleen, Skin nodule, Weight loss, Abnormality o...	ORPHA:33276
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis, Decreased liver function	OMIM:602199
Acromegaly	Generalized hyperpigmentation, Abnormal fingernail morphology, Dysuria, Elevated circulating grow...	ORPHA:963
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ...	ORPHA:990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Geroderma Osteodysplastica	Thin skin, Hernia	ORPHA:2078
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Ataxia, Glutaric aciduria, Vertigo, Chronic kidney disease, Subdural hemor...	ORPHA:25
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Small for gestational age, Simpl...	OMIM:201750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Localized skin lesion, Subcutaneous nodule, Atrioventricular block, Pol...	ORPHA:371428
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ...	ORPHA:90647
Hyperthyroidism, Nonautoimmune	Tachycardia, Small for gestational age, Increased circulating thyroglobulin level, Thyroid hyperp...	OMIM:609152
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Right ventricular failure, Abnormal circulating calcium co...	ORPHA:60025
Malakoplakia	Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Subcutaneous nodule, Skin ulcer, Ur...	ORPHA:556
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Infant Botulism	Hyponatremia, Cardiac arrest, Hypertension, Hypotension, Chronic otitis media	ORPHA:178478
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,...	ORPHA:1332
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Joubert Syndrome 6	Ataxia, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis	OMIM:610688
Yao Syndrome	Pericarditis, Nephrolithiasis, Weight loss	OMIM:617321
Sotos Syndrome	Ureteral duplication, Flexion contracture, Conductive hearing impairment, Chronic otitis media, V...	ORPHA:821
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Small for gestational age, Sp...	ORPHA:2909
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Optic atrophy...	ORPHA:543470
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Ataxia, Weight loss, Iron deficiency ...	OMIM:212750
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Conductive hearing impairment, Tela...	ORPHA:576
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Neurooculorenal Syndrome	Hypoplasia of the bladder, Mixed hearing impairment, Decreased circulating cortisol level, Ectopi...	OMIM:620305
Zygomycosis	Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Fasciitis, Epistaxis, Hematemesis...	ORPHA:73263
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope...	OMIM:220400
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia	OMIM:606593
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hepatomegaly, Abnormality of retinal pigmentation, Inguinal hernia, De...	ORPHA:580
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Elevated circulating creatine kinase concen...	OMIM:164310
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease, Onychogryposis, Protruding ear	OMIM:614378
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Sensorineural hearing impairment, Peritonitis, Megacystis, Pyelonephritis, Bidirectional ...	OMIM:619351
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Leuk...	OMIM:301056
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re...	OMIM:218030
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Gastrointestinal hemorrhage,...	ORPHA:440437
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Preauricular pit, Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells	OMIM:226980
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Sensorineural hearing impairment, Cachexia, Steatorrhea	ORPHA:3217
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ...	ORPHA:79124
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesi...	ORPHA:140952
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Fatal Familial Insomnia	Ataxia, Weight loss, Urinary retention, Abnormal autonomic nervous system physiology, Neuronal lo...	OMIM:600072
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hype...	OMIM:620358
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Isaacs Syndrome	EEG abnormality, Calf muscle hypertrophy, Weight loss	ORPHA:84142
Somatomammotropinoma	Generalized hyperpigmentation, Abnormal fingernail morphology, Dysuria, Elevated circulating grow...	ORPHA:314769
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Calciphylaxis	Stage 5 chronic kidney disease, Skin ulcer, Hyperphosphatemia, Secondary hyperparathyroidism, Cel...	ORPHA:280062
Apert Syndrome	Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Ovarian ...	ORPHA:87
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Congenital adrenal hyperp...	OMIM:202010
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulati...	ORPHA:91347
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Huntington Disease-Like 1	Cerebellar atrophy, Dysmetria, Gait ataxia, Weight loss, Bradykinesia, EEG abnormality, Gait dist...	ORPHA:157941
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Hunter-Macdonald Syndrome	Aortic regurgitation, Inguinal hernia, Hypospadias, Sensorineural hearing impairment, Hypertensio...	OMIM:611962
Pituitary Apoplexy	Hyponatremia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:95613
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Low-set ears, Truncal ata...	OMIM:617101
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Conductive hearing impairment, Dystrophic fingern...	ORPHA:740
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy	OMIM:612300
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Obesity, Abdominal obesity, Small pituitary gland, Leth...	ORPHA:398079
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Centrally nucleate...	OMIM:617072
Alexander Disease	Ataxia, Facial palsy, Sudden cardiac death, Hypertension, EEG abnormality, Gait disturbance, Abno...	ORPHA:58
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis, Anemia	OMIM:615758
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:177910
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia, Hepatomegaly	OMIM:616433
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP...	OMIM:608233
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Intrav...	ORPHA:420741
Cranioectodermal Dysplasia 3	Short nail, Stage 5 chronic kidney disease, Broad nail, Fine hair, Nephronophthisis, Cirrhosis, S...	OMIM:614099
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski...	OMIM:614072
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Coombs-positive hemolytic anemia, Microangiopathic ...	ORPHA:464343
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi...	OMIM:604292
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc...	ORPHA:3322
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Pr...	OMIM:127550
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease, Low-set ears, Abnormality of hair texture	ORPHA:2752
Hereditary Late-Onset Parkinson Disease	Akinesia, Spastic/hyperactive bladder, Weight loss, Bradykinesia, Shuffling gait, Cerebral cortic...	ORPHA:411602
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Aplasia cutis congenit...	OMIM:243800
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Weight loss	ORPHA:545
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Ataxi...	ORPHA:163746
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Eruptive xanthomas, Jaundice, Hepatosplenomegaly, Lactescent serum,...	OMIM:238600
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect	OMIM:619769
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Alopecia, Gastrointestinal hemorrhage, Pericarditis, Elevated ci...	ORPHA:93672
Keutel Syndrome	Alopecia, Optic atrophy, Dermal atrophy, Recurrent otitis media, Pulmonary arterial hypertension,...	ORPHA:85202
Myhre Syndrome	Small for gestational age, Ataxia, Cryptorchidism, Generalized muscle hypertrophy, Obesity, Fine ...	OMIM:139210
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Poliomyelitis	Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,...	ORPHA:2912
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Vertigo, Peritoni...	ORPHA:679
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Enamel hypoplasia, Cerebral atrophy, Hypsarrhythmia, Hypertension, Uretero...	OMIM:300896
Norrie Disease	Cachexia, Cryptorchidism, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding e...	ORPHA:649
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Ataxia, Jaundice, Hepatitis, H...	ORPHA:90062
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ...	OMIM:614008
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Sensorineural hearing impai...	ORPHA:828
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Huntington Disease-Like 2	Bradykinesia, Cerebral cortical atrophy, Weight loss	OMIM:606438
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, N...	OMIM:105650
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:608013
Townes-Brocks Syndrome 1	Preauricular pit, Overfolding of the superior helices, Renal insufficiency, Multicystic kidney dy...	OMIM:107480
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Shock, Decreased circulating cortisol level, Frontal balding, Renal salt wasting, L...	ORPHA:90794
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Vasculitis, Weigh...	ORPHA:324964
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Hypercalcemia...	ORPHA:913
Branchiooculofacial Syndrome	Renal cyst, Postauricular pit, Premature graying of hair, Conductive hearing impairment, Sparse h...	OMIM:113620
Familial Osteodysplasia, Anderson Type	Abnormal earlobe morphology, Hypertension, Large earlobe, Hyperuricemia, Thick eyebrow	ORPHA:2769
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Hearing impairment, Absence of renal corticomedullary differentia...	OMIM:613254
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,...	ORPHA:1366
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dystrophic ...	OMIM:150400
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Ovar...	ORPHA:2221
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Flexion contracture, Increased body weight, Abdominal o...	ORPHA:398069
Secondary Short Bowel Syndrome	Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weig...	ORPHA:95427
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Dilated cardiomyopat...	OMIM:300952
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Congenital diaphragmat...	OMIM:305600
Brittle Cornea Syndrome 1	Atypical scarring of skin, Molluscoid pseudotumors, Red hair, Dentinogenesis imperfecta, Hearing ...	OMIM:229200
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Hirschsprung Disease	Aganglionic megacolon, Sensorineural hearing impairment, Failure to thrive in infancy, Weight loss	ORPHA:388
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia	OMIM:616271
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Hypermelanotic macule, Rhabdomyosarcoma, Freckling, Nevus anemicus, R...	ORPHA:97685
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cerebral hemorrhage, Hiatus hernia, Cryptorchidism, Unsteady gait, Loss of ambulatio...	OMIM:616682
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Localized skin lesion, Unsteady gait, Skin ...	ORPHA:707
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia	OMIM:308230
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnorma...	ORPHA:861
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Sma...	OMIM:140000
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hype...	ORPHA:525
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin, Abnormal pinna morphology, Sparse or absent eyelashes, Breast apl...	ORPHA:1231
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Classic Homocystinuria	Elevated hepatic transaminase, Sparse scalp hair, Hepatomegaly, Gastrointestinal hemorrhage, Abno...	ORPHA:394
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Muenke Syndrome	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Hypermela...	ORPHA:53271
Prader-Willi Syndrome	Hypopigmentation of hair, Decreased muscle mass, Failure to thrive in infancy, Decreased response...	OMIM:176270
Poems Syndrome	Papilledema, Thrombocytosis, Hyperpigmentation of the skin, Lipodystrophy, Leukonychia, Weight lo...	ORPHA:2905
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Thrombocytopenia, Hepatomegaly	OMIM:225750
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, EEG abnormality, Gait imbalance, Hyp...	ORPHA:411511
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe...	OMIM:615812
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:42642
Rothmund-Thomson Syndrome Type 1	Calcinosis, Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Aplastic anemia,...	ORPHA:221008
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Sensorineural hearin...	ORPHA:3163
Neurofibromatosis, Type I	Hypopigmented macule, Inguinal freckling, Rhabdomyosarcoma, Axillary freckling, Hypsarrhythmia, P...	OMIM:162200
Epidermolysis Bullosa, Junctional 1B, Severe	Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo...	OMIM:226700
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca...	OMIM:613507
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Asymmetric, linear ...	OMIM:309801
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Arrhyth...	ORPHA:139411
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis, Xanthelasma	OMIM:603776
Brittle Cornea Syndrome	Sensorineural hearing impairment, Abnormality of hair pigmentation, Corneal scarring, Gait distur...	ORPHA:90354
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Chronic kidney disease, Corneal ...	ORPHA:642
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Jaundice, Cerebral atrophy, 3-Methylglutaric aciduria, 3-Methyl...	OMIM:617248
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Ataxia, Weight loss	ORPHA:391
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Obesity...	ORPHA:98794
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Aplasia/Hypoplasia of the...	ORPHA:565
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp...	OMIM:613873
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Eosinophilic Fasciitis	Macule, Myositis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Subcutaneous nodule, W...	ORPHA:3165
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries	ORPHA:1643
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Gorham-Stout Disease	Torticollis, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Atelis Syndrome 2	Hyperinsulinemia, Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Thrombocytopenia	OMIM:620185
Prader-Willi Syndrome	Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryptorchidism, ...	ORPHA:739
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Absence of subcutaneous fat, ...	OMIM:616914
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Mus...	ORPHA:2388
Cardiospondylocarpofacial Syndrome	Decreased testicular size, Posteriorly rotated ears, Congenital diaphragmatic hernia, Conductive ...	OMIM:157800
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multip...	ORPHA:1969
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia	OMIM:617941
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss, Pulmonary arterial h...	ORPHA:1164
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypospadias, Facial p...	ORPHA:2658
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Thrombocytopenia	OMIM:300514
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Underfolded helix, Sparse...	OMIM:268400
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Gait dist...	ORPHA:3214
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Synophrys, Protruding ear, Gait disturbance, Sparse ha...	OMIM:300966
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Kindler Epidermolysis Bullosa	Urethral stricture, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enam...	ORPHA:2908
Glucocorticoid Resistance, Generalized	Hypertension, Increased circulating cortisol level, Hirsutism	OMIM:615962
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97282
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97283
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Marfan Syndrome	Skeletal muscle atrophy, Inguinal hernia, Cachexia, Congestive heart failure, Slender build, Stri...	ORPHA:558
Floating-Harbor Syndrome	Broad-based gait, Hypospadias, Renal agenesis, Small for gestational age, Cryptorchidism, Dilatat...	ORPHA:2044
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu...	OMIM:612347
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, EEG with focal epileptiform discharges, EEG abnormali...	ORPHA:98795
Rothmund-Thomson Syndrome Type 2	Calcinosis, Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Aplastic anemia,...	ORPHA:221016
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna...	ORPHA:257
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right v...	ORPHA:97287
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans	ORPHA:409
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroperitoneal fibros...	ORPHA:449432
Carney Complex	Pituitary growth hormone cell adenoma, Atypical nevi in non-sun exposed areas, Increased body wei...	ORPHA:1359
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Abnormal cardiac septum morphology, Pulmonic stenosis, Increased mean platelet ...	OMIM:616737
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97280
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
De Sanctis-Cacchione Syndrome	Parakeratosis, Ataxia, Hypermelanotic macule, Bilateral cryptorchidism, Sensorineural hearing imp...	OMIM:278800
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Glossopharyngeal Neuralgia	Ear pain, Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal ner...	ORPHA:221098
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss, Pan...	ORPHA:33577
Liposarcoma	Subcutaneous nodule, Abnormality of the kidney, Weight loss	ORPHA:69078
Thrombocytopenia-Absent Radius Syndrome	Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia	ORPHA:3320
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Dysosteosclerosis	Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hearing impairment, Optic atro...	ORPHA:1782
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100075
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait dis...	ORPHA:216866
Exstrophy-Epispadias Complex	Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma...	ORPHA:322
Enamel-Renal Syndrome	Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr...	ORPHA:1031
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Pancytopenia, Fasciitis, Phimosis, Urinary bladder infla...	ORPHA:99921
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, Hypoplastic toenails, Pulmo...	OMIM:616028
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Failure to thrive, Spontaneous, recurrent ...	ORPHA:2929
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hepatomegaly	ORPHA:46059
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Optic neuropathy, Splenomegaly, Enlarged lacrimal glands, Hypercalciu...	OMIM:181000
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Hypertension, Cardiomyopath...	OMIM:102200
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Elevated circulating uroporphyrin concentration, Th...	OMIM:263700
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
Rheumatoid Arthritis	Digital flexor tenosynovitis, Vasculitis, Elevated circulating C-reactive protein concentration, ...	OMIM:180300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid...	ORPHA:79078
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Graves Disease, Susceptibility To, 1	Goiter, Congestive heart failure, Onycholysis, Weight loss	OMIM:275000
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Abnormality of the kidney, Decreased response to growth hormone stimula...	ORPHA:177907
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst...	ORPHA:1657
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Blue ne...	ORPHA:1556
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100080
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Hernia, Weight loss	ORPHA:26790
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,...	ORPHA:86884
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Dermatomyositis	Abnormal hair quantity, Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin,...	ORPHA:221
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Curry-Jones Syndrome	Optic disc coloboma, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirs...	ORPHA:1553
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Hypospadias, Short nail, Camptodactyly of fing...	ORPHA:1662
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97278
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100082
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Ivic Syndrome	Leukocytosis, Tetralogy of Fallot, Thrombocytopenia	OMIM:147750
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Vertigo, Weight ...	ORPHA:71493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Caroli Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbiliru...	ORPHA:480520
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail, Palmoplantar keratoderma	ORPHA:384
Loeys-Dietz Syndrome	Camptodactyly of finger, Cardiac arrest, Atypical scarring of skin, Thin skin, Striae distensae	ORPHA:60030
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Cardiac Diverticulum	Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti,...	ORPHA:1686
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele ...	ORPHA:69735
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97261
Blau Syndrome	Pericarditis, Camptodactyly of finger, Abnormality of the ear, Intermittent generalized erythemat...	OMIM:186580
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology	ORPHA:464321
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,...	ORPHA:3260
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Weight loss	ORPHA:312
Oculoectodermal Syndrome	Epidermal nevus, Transient ischemic attack, Supernumerary nipple, Aplasia cutis congenita, Hyperp...	OMIM:600268
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Deeah Syndrome	Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia, Hepatomegaly	OMIM:619004
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Congenital Tufting Enteropathy	Optic disc coloboma, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive	ORPHA:92050
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Skin ulcer, Weight loss, Abnormal...	ORPHA:37
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Abnormal myocard...	ORPHA:297
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment...	OMIM:610651
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Cerebral ischemia,...	ORPHA:494424
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Pituitary adeno...	ORPHA:144
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:98754
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, M...	OMIM:160980
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol...	OMIM:256040
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:98793
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Lipodystrophy, Extra concha fold, Sparse eyebrow, Cryptorchidism...	OMIM:209885
Joubert Syndrome 5	Ataxia, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cyst...	OMIM:610188
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Hypopigmentation of hair, Small for gestational age, Decreased resp...	ORPHA:177901
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia	OMIM:202110
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Xeroderma Pigmentosum, Complementation Group A	Ataxia, Hypermelanotic macule, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis,...	OMIM:278700
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur	ORPHA:1054
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa...	OMIM:600376
Fibular Hemimelia	Thrombocytopenia, Abnormal heart morphology	ORPHA:93323
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ...	OMIM:274000
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, Cardio...	ORPHA:91387
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Generalized hypopigmentation...	ORPHA:79433
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal skeletal muscle morphology, Weight loss	ORPHA:142
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:301072
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Reactive Arthritis	Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss, Enthesitis, ...	ORPHA:29207
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Perry Syndrome	Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss	OMIM:168605
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Adams-Oliver Syndrome 1	Alopecia, Aplasia cutis congenita on trunk or limbs, Supernumerary nipple, Aplasia cutis congenit...	OMIM:100300
Kindler Syndrome	Ridged nail, Telangiectasia of the skin, Phimosis, Urethral stenosis, Spotty hypopigmentation, Pa...	OMIM:173650
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Weight loss, Retinal hem...	OMIM:608710
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm...	ORPHA:487796
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia	OMIM:147791
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonych...	OMIM:609638
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Weight loss	ORPHA:703
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva...	ORPHA:542306
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia...	ORPHA:51
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Congesti...	ORPHA:2108
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ...	ORPHA:79431
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Gerstmann-Straussler Disease	Cerebellar atrophy, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Truncal ataxia, Lower li...	OMIM:137440
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Irregular hyperpigmentation, Premature ventricular contraction	ORPHA:1964
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold...	ORPHA:1974
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis, Dermal atrophy, Cornea...	OMIM:278730
Pemphigus Vulgaris	Atypical scarring of skin, Acantholysis, Weight loss	ORPHA:704
Thymic Carcinoma	Weight loss	ORPHA:99868
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Rat-Bite Fever	Pericarditis, Parotitis, Myocarditis, Tendonitis, Weight loss, Pancreatitis, Anemia	ORPHA:31205
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Thrombocytopenia	ORPHA:2308
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cardiomegaly, Hypoplasia of the thymus, Abnormal heart valve p...	ORPHA:3384
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Osteosarcoma	Weight loss	ORPHA:668
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out...	OMIM:187300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Baller-Gerold Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Abnormality of the kidney, Optic nerve hypopl...	OMIM:218600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Hypertension, Pulmonary arterial hypertension	OMIM:613834
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Hepatosplenomegaly, Enthesitis, Weight loss, Anemia	ORPHA:85408
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Tinnitus, Hearing impairment, Weight loss	ORPHA:97286
Cutis Marmorata Telangiectatica Congenita	Cutis marmorata telangiectatica congenita, Hypertension, Telangiectasia	OMIM:219250
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular ...	OMIM:620066
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Oromandibular Dystonia	Torticollis, Weight loss	ORPHA:93958
Keutel Syndrome	Calcification of the auricular cartilage, Hypertension, Pulmonic stenosis, Recurrent otitis media...	OMIM:245150
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Decreased activ...	OMIM:256810
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont...	ORPHA:2020
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Cardiomegaly	ORPHA:1457
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Steatorrhea, Weight loss	ORPHA:309031
Osteogenesis Imperfecta	Abnormal endocardium morphology, Thrombocytopenia, Mitral valve prolapse	ORPHA:666
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Nocardiosis	Pericarditis, Liver abscess, Peritonitis, Subcutaneous nodule, Weight loss, Cellulitis	ORPHA:31204
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Low-...	ORPHA:99125
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pu...	OMIM:163950
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation...	OMIM:175050
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss	ORPHA:424
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
Familial Gestational Hyperthyroidism	Goiter, Thyroid hyperplasia, Weight loss	ORPHA:99819
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mpv17

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mpv17.

No publications found that use IMPC mice or data for Mpv17.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mpv17^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mpv17 MGI:97138

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Mpv17 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data