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Gene: Slc19a3 MGI:1931307

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 19, member 3

Synonyms:

ThTr2, A230084E24Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc19a3 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 Slc19a3 (2 diseases)
Human diseases predicted to be associated with Slc19a3 (815 diseases)

The table below shows human diseases associated to Slc19a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Basal Ganglia Disease, Biotin-Thiamine Responsive		Lethargy, Vomiting, Dysphagia	OMIM:607483
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome		Tetraparesis, Spastic tetraplegia, Ataxia	ORPHA:263410

The table below shows human diseases predicted to be associated to Slc19a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr...	ORPHA:100070
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Astrocytosis, Gait ataxia, Cogwheel rigidity, Myoclonus, Rigidity, Loss...	ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis	OMIM:300857
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Ne...	OMIM:600795
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi...	OMIM:105500
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Inherited Creutzfeldt-Jakob Disease	Central nervous system degeneration, Global brain atrophy, Progressive extrapyramidal muscular ri...	ORPHA:282166
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Letha...	OMIM:143880
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Renal insufficiency, Failure to thrive	ORPHA:28
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Focal Cortical Dysplasia, Type Ii	Astrocytosis, Hemiparesis	OMIM:607341
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency, Fatal liver failure in infancy	ORPHA:254857
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos...	ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Episodic vomiting	OMIM:618224
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto...	ORPHA:275864
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Increased level of methylsuccinic acid in urine, Hepatic steatosis, Lethargy, ...	ORPHA:26792
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Failure to thrive, Elevated urinary dihydrothymine...	OMIM:274270
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting, Failure to thrive	ORPHA:622
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hepatocellular necrosis, Exe...	OMIM:201475
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu...	OMIM:231530
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Failure to thrive, D...	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Renal insufficiency...	OMIM:619386
Methylmalonic Acidemia With Homocystinuria	Lethargy, Skin rash, Failure to thrive	ORPHA:26
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Central Diabetes Insipidus	Diarrhea, Depression, Failure to thrive, Lethargy, Weight loss, Nocturia	ORPHA:178029
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:610951
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ...	ORPHA:2394
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Paralysis	OMIM:613710
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Depression, Dysphagia	OMIM:618093
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Vomiting, Reduced tissu...	OMIM:201450
Wilson Disease	Depression, Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive...	ORPHA:905
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Hepatic...	OMIM:231680
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting, Weight loss	ORPHA:30925
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Prote...	ORPHA:77297
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Crigler-Najjar Syndrome	Jaundice, Lethargy, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Diencephalic Syndrome	Cachexia, Long penis, Decreased body weight	ORPHA:1672
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Hepatomegaly, Lethargy, Episodic vomiting, Acute hep...	OMIM:238970
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal f...	OMIM:251880
Lethal Congenital Contracture Syndrome 7	Paralysis, Cerebellar atrophy, Cerebral atrophy	OMIM:616286
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst...	OMIM:143100
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Astrocytosis, Retrocollis, Tremor, Rigidity, P...	OMIM:601104
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c...	OMIM:612319
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lethargy, Hepatomegal...	OMIM:613561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Lethargy,...	OMIM:611590
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Failure to thrive, Dicarboxylic aciduria, Elevated circulating aspartate amin...	OMIM:212140
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Vomiting, Fai...	OMIM:210200
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:607765
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Gait disturbance, Bradykinesia, S...	OMIM:615643
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis	OMIM:605285
Autoimmune Hepatitis	Inflammation of the large intestine, Depression, Elevated circulating hepatic transaminase concen...	ORPHA:2137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Renal insufficiency, Splenomegaly, Lethargy, Pancreatitis, Hepatomegaly	ORPHA:79312
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia	OMIM:615889
Hemochromatosis, Type 2A	Splenomegaly, Lethargy, Cirrhosis, Arthritis, Hepatomegaly	OMIM:602390
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Nephrotic syndrome, P...	ORPHA:60
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Glycosuria, Failure to thrive...	ORPHA:2089
Severe Canavan Disease	Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Lethargy, Elevated urine N-acetylas...	ORPHA:314911
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep...	OMIM:300635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Lethargy, Pancreatitis, Hepatomegaly	ORPHA:289916
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrho...	OMIM:215600
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Decreased liver ...	OMIM:246900
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Large fo...	ORPHA:263455
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomit...	ORPHA:298
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ...	OMIM:613404
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur...	OMIM:255120
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Decreased methioni...	OMIM:250940
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ...	OMIM:208085
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Mitochondrial Complex I Deficiency, Nuclear Type 5	Vomiting, Failure to thrive, Lethargy, Episodic vomiting, Hepatomegaly, Dysphagia	OMIM:618226
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Constipation, Weight loss	OMIM:613662
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Lethargy, Elevated circulating hepatic transaminase c...	OMIM:619064
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, He...	OMIM:251000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro...	OMIM:615157
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:79230
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Elevated circulating hepatic transaminase concentration, Small for gestational age	OMIM:610498
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Idiopathic Achalasia	Recurrent aspiration pneumonia, Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c...	OMIM:615862
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,...	ORPHA:156
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age	OMIM:617065
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis	OMIM:617900
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Failure to thrive, Recurrent otitis media, Recurrent sinusi...	OMIM:615207
Glycine Encephalopathy 1	Hyperglycinuria, Lethargy	OMIM:605899
Hyperlysinuria With Hyperammonemia	Lethargy, Hyperlysinuria, Dibasicaminoaciduria	OMIM:238750
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr...	ORPHA:26791
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Wolman Disease	Hepatic failure, Splenomegaly, Cachexia, Hepatomegaly, Steatorrhea	ORPHA:75233
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Fail...	OMIM:222748
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Astrocytosis, Inability to walk	OMIM:611087
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic failure, Letharg...	OMIM:616483
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Me...	OMIM:618999
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Diarrhea, Vomiting, Micronodular cirrh...	OMIM:256810
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionine synthase activity...	OMIM:236270
Propionic Acidemia	Hyperglycinuria, Vomiting, Eczematoid dermatitis, Increased level of hippuric acid in urine, Fail...	OMIM:606054
Alexander Disease Type I	Cachexia, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Trichohepatoenteric Syndrome 2	Diarrhea, Small for gestational age, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegal...	OMIM:614602
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Leigh Syndrome, Nuclear	Failure to thrive, Hepatocellular necrosis	OMIM:256000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Axonal degeneration, Gait disturbance, Tetraplegia, Gliosis, Degener...	OMIM:604484
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl...	OMIM:614817
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Lethargy...	ORPHA:99745
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis	OMIM:613002
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Protracted diarrhea	ORPHA:100093
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ...	OMIM:614922
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:100024
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Variegate Porphyria	Paralysis	OMIM:176200
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:214950
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Classic Galactosemia	Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:79239
Desmoplastic Small Round Cell Tumor	Ileus, Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas	ORPHA:83469
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Citrullinemia Type I	Hepatic failure, Vomiting, Gastroesophageal reflux, Failure to thrive, Lethargy	ORPHA:247525
Idiopathic Intracranial Hypertension	Vomiting, Depression, Obesity, Lethargy, Nausea	ORPHA:238624
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Elevated ...	OMIM:229600
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly	ORPHA:1133
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Pancreatitis, Renal insufficiency	ORPHA:27
Hereditary Fructose Intolerance	Chronic kidney disease, Reduced circulating aldolase concentration, Diarrhea, Vomiting, Renal ins...	ORPHA:469
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure...	ORPHA:97362
Machado-Joseph Disease Type 3	Degeneration of the striatum, Spasticity, Cerebellar atrophy, Substantia nigra gliosis, Abnormal ...	ORPHA:276244
Maple Syrup Urine Disease, Type Ia	Vomiting, Increased level of hippuric acid in urine, Reduced branched-chain alpha-keto acid dehyd...	OMIM:248600
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematur...	ORPHA:91138
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Citrullinemia Type Ii	Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vo...	ORPHA:247585
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Neurodegeneration, Fascic...	OMIM:615491
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Failure to thrive, Lethargy, Hepatomegaly, Nausea	ORPHA:927
Autosomal Agammaglobulinemia	Bronchiectasis, Diarrhea, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinu...	ORPHA:33110
Moynahan Syndrome	Cachexia	ORPHA:2574
Medullary Thyroid Carcinoma	Diarrhea, Abnormal liver parenchyma morphology, Dysphagia, Weight loss	ORPHA:1332
Citrullinemia, Classic	Vomiting, Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Oroticaciduria...	OMIM:215700
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Elevated circulating aspart...	OMIM:614034
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exag...	OMIM:272750
Glutaric Acidemia Type 3	Glutaric aciduria, Lethargy, Ketonuria, Failure to thrive	ORPHA:35706
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Isovaleric Acidemia	Hyperglycinuria, Vomiting, Lethargy, Elevated urinary isovalerylglycine level, Reduced isovaleryl...	OMIM:243500
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lethargy, Dysphagia, Melena, Nausea, ...	ORPHA:319218
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Lethargy, Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity, Failure ...	OMIM:250620
Acute Liver Failure	Acute kidney injury, Depression, Elevated circulating hepatic transaminase concentration, Hepatit...	ORPHA:90062
Methylcobalamin Deficiency Type Cble	Vomiting, Failure to thrive, Abnormality of the liver, Lethargy, Glomerulopathy, Hemolytic-uremic...	ORPHA:2169
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Lethargy, Diffuse pancreatic islet hyperplasia, Large for gestational age	ORPHA:276556
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron...	OMIM:256600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Organic aciduria, Keratoconjunctivitis, Lethargy, Weight ...	ORPHA:79242
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Lethargy, Pancreatic islet-cell hyperplasia	ORPHA:276608
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Lethargy, Constipation	ORPHA:95717
Lacrimoauriculodentodigital Syndrome 1	Xerostomia, Renal agenesis, Coronal hypospadias, Conjunctivitis, Nephrosclerosis	OMIM:149730
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to thrive secondary to recurrent inf...	ORPHA:169160
Machado-Joseph Disease Type 1	Degeneration of the striatum, Spasticity, Cerebellar atrophy, Substantia nigra gliosis, Abnormali...	ORPHA:276238
Machado-Joseph Disease Type 2	Degeneration of the striatum, Spasticity, Cerebellar atrophy, Substantia nigra gliosis, Abnormali...	ORPHA:276241
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Elevated...	OMIM:609015
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Weight loss, Arthrit...	ORPHA:47
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Lethargy, Large for gestational age, Small for gestational age	ORPHA:324575
Whipple Disease	Uveitis, Depression, Diarrhea, Gastrointestinal hemorrhage, Splenomegaly, Infectious encephalitis...	ORPHA:3452
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss, Hepatomegaly, Dysphagia	ORPHA:2198
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Renal dysplasia, Ele...	OMIM:608836
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting, Failure to thrive	OMIM:618228
Biotinidase Deficiency	Diarrhea, Vomiting, Organic aciduria, Skin rash, Splenomegaly, Lethargy, Seborrheic dermatitis, D...	OMIM:253260
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:275761
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Failure to thrive, Skin rash, Reduced number o...	ORPHA:79284
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Gait ataxia, Cerebellar atrophy	ORPHA:438134
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Lethargy, Diffuse pancreatic islet hyperplasia, Large for gestational age	ORPHA:276580
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Huntington Disease-Like 2	Depression, Apathy, Weight loss, Inertia, Bradykinesia	OMIM:606438
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Diarrhea, Splenomegaly	ORPHA:2930
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi...	OMIM:616629
Scrub Typhus	Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lethargy, Myocarditis, Ant...	ORPHA:83317
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Neurodegeneration, Chorea, Tremor, Rigidity, Babinski sign, Parkinsoni...	OMIM:606159
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Astrocyt...	OMIM:203700
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Failure...	OMIM:251100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Gait disturbance,...	ORPHA:309854
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Failure to thrive, Recurrent urinary tract infections, Protrac...	OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Failure to thrive, Ileus, Erythroderma, Glomerulonephritis, Art...	OMIM:304790
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:617156
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Elevated urinary sulfatide level, Lethargy, Dysphagia, Decreas...	OMIM:233910
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Vomiting, Failure to thrive, Oroticaciduria, Elevated circulatin...	OMIM:207900
Christianson Syndrome	Cachexia, Gastroesophageal reflux, Dysphagia	ORPHA:85278
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Lethargy, Cirrhosis, Apathy, Chronic hepatic failure, Arthriti...	ORPHA:465508
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:557000
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Portal hypertensio...	ORPHA:824
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Mesangial hypercell...	ORPHA:91139
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal...	ORPHA:85450
Isolated Atp Synthase Deficiency	Hepatomegaly, Lethargy, Renal hypoplasia, 3-Methylglutaconic aciduria	ORPHA:254913
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Cachexia, Methylmalonic aciduria	ORPHA:1933
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Pontocerebellar Hypoplasia, Type 6	Lethargy, Gastroesophageal reflux, Failure to thrive	OMIM:611523
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Methylmalonic Aciduria, Cblb Type	Vomiting, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Failure...	OMIM:251110
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy, Reduced tissue fructose-1,6-bisphosphatase activity, Increased urinary gl...	OMIM:229700
Attrv30M Amyloidosis	Nephropathy, Diarrhea, Constipation, Weight loss, Abnormal renal physiology	ORPHA:85447
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepa...	OMIM:614921
Lysinuric Protein Intolerance	Diarrhea, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointerstitial nep...	ORPHA:470
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand tremor, Postural tremor, Babinski sign, Steppage gait, Vocal cord paralysis, Inability to wa...	ORPHA:99947
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Failure to thrive, Decreased met...	OMIM:614857
Renpenning Syndrome	Cachexia, Hypospadias	ORPHA:3242
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting	OMIM:618225
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Depression, Elevated circulating...	ORPHA:79095
Pseudo-Torch Syndrome 2	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Abnormal renal c...	OMIM:617397
Cyclic Vomiting Syndrome	Nausea, Lethargy, Vomiting	OMIM:500007
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Constipation	OMIM:616801
Xanthinuria, Type I	Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithiasis, Reduced ...	OMIM:278300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Mcdonough Syndrome	Cachexia	ORPHA:2471
Transcobalamin Ii Deficiency	Vomiting, Diarrhea, Methylmalonic aciduria, Failure to thrive, Lethargy, Hepatomegaly	OMIM:275350
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu...	OMIM:277400
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d...	ORPHA:93552
Legionnaires Disease	Diarrhea, Hepatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Hematuria, Prote...	ORPHA:549
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis, Axonal degeneration	OMIM:615490
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Vomiting, Failure to thrive, Oroticaciduria, Elevated circulating aspartate aminotransferase conc...	OMIM:311250
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Failure to thrive, Decreased methionine...	OMIM:277380
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para...	ORPHA:803
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di...	ORPHA:20
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:86893
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly	ORPHA:42642
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno...	ORPHA:440713
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Skin rash, Lethargy, Hepatomegaly	ORPHA:99828
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Intestinal Dysmotility Syndrome	Diarrhea, Weight loss, Failure to thrive, Projectile vomiting	OMIM:620045
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr...	OMIM:615751
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:26793
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy	OMIM:314300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Vomiting, Ketonuria, Organic aciduria, Failure to thrive, Propionyl-CoA carboxyl...	OMIM:210210
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia, Constipation	ORPHA:101150
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur...	OMIM:602433
Pseudomyxoma Peritonei	Inflammation of the large intestine, Intestinal obstruction, Constipation, Weight loss, Abnormal ...	ORPHA:26790
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Loss of ambulation, Steppa...	OMIM:614895
X-Linked Adrenoleukodystrophy	Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Gait disturb...	ORPHA:43
Developmental And Epileptic Encephalopathy 41	Lethargy, Nephrocalcinosis	OMIM:617105
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Recurrent otitis media, Cholestasis, Lethar...	OMIM:620233
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Hepatitis, Failure to thrive, Enteroviral encephalitis, Sclerosing cholangitis, Splenom...	OMIM:308230
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic failure, Oliguria, Elevated circulating hepatic transaminase concentration, Dicarboxylic ...	ORPHA:159
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria	OMIM:618120
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Ski...	ORPHA:829
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Splenomegaly, Low alkaline phosphatase, Lethargy, Hepatomegaly	OMIM:201100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lethargy, Vomiting	OMIM:614299
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Nephrolithiasis, ...	OMIM:617321
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Bowel incontinence	ORPHA:702
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Elevated circulating hepatic transaminase concentration...	ORPHA:454836
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Small for gestational age	OMIM:312170
Bacterial Toxic-Shock Syndrome	Pneumonia, Diarrhea, Vomiting, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomye...	ORPHA:36234
Meningococcal Meningitis	Renal insufficiency, Skin rash, Infectious encephalitis, Lethargy, Projectile vomiting	ORPHA:33475
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Evans Syndrome	Jaundice, Lethargy	ORPHA:1959
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:230800
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Holocarboxylase Synthetase Deficiency	Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, Reduced ho...	OMIM:253270
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis	OMIM:616287
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Failure to thrive, Renal insufficiency, ...	OMIM:610965
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Neurodegeneration, Tremor, Abnormality of extrapyramidal motor fu...	OMIM:614298
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Weight loss, Abnormality of th...	ORPHA:54251
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Microvesic...	OMIM:619377
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Hemoglobinuria, Jaundice	OMIM:194380
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Vomiting, Failure to thrive	OMIM:237300
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F...	OMIM:605711
Nephroblastoma	Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma	ORPHA:654
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Malar rash, Splenomegaly, Hepatomegaly, Nephrotic syndrome	OMIM:603909
Isolated Complex I Deficiency	Vomiting, Proximal tubulopathy, Failure to thrive, Lethargy, Hepatomegaly	ORPHA:2609
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenas...	OMIM:614866
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis	ORPHA:848
N-Acetylglutamate Synthase Deficiency	Lethargy, Vomiting, Failure to thrive, Reduced hepatic N-acetylglutamate synthase activity	OMIM:237310
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice, Lethargy, Depression, Overweight	ORPHA:99832
Thyroid Dyshormonogenesis 1	Lethargy, Constipation	OMIM:274400
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Familial Hypoaldosteronism	Diarrhea, Failure to thrive, Decreased urinary potassium, Lethargy, Proximal renal tubular acidos...	ORPHA:427
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Osmotic d...	ORPHA:35710
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea	ORPHA:49827
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E...	ORPHA:158061
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Silver-Russell Syndrome	Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive in infancy, Obesity...	ORPHA:813
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Constipation	ORPHA:371364
Systemic Capillary Leak Syndrome	Oliguria, Diarrhea, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight l...	ORPHA:188
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Interstitial pneumonitis, Hepatic necrosis	OMIM:127550
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Splenomegaly, Proteinuria, He...	OMIM:617303
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Neurodegeneration, Loss of ...	ORPHA:391428
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen...	ORPHA:31202
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Wild Type Attr Amyloidosis	Nephropathy, Intermittent diarrhea, Renal insufficiency, Elevated circulating alkaline phosphatas...	ORPHA:330001
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Lethargy, Constipation	ORPHA:95716
Late-Onset Isolated Acth Deficiency	Diarrhea, Hepatitis, Failure to thrive, Hashimoto thyroiditis, Lethargy, Constipation, Weight loss	ORPHA:199299
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Gastroesophageal reflux	OMIM:618186
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hypersplenism, Portal hypertens...	OMIM:613385
Necrotizing Enterocolitis	Vomiting, Diarrhea, Small for gestational age, Peritonitis, Lethargy, Bloody diarrhea	ORPHA:391673
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Inability to walk, Poor gross motor coordination, Unsteady gait, Frequent fal...	ORPHA:99948
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par...	ORPHA:456312
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti...	OMIM:610217
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar...	OMIM:603860
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss	OMIM:191390
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Abnormality of the kidne...	ORPHA:1163
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism...	ORPHA:228426
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Vomiting, Diarrhea, Xerostomia, Cachexia	OMIM:175500
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Difficulty walking, Neurodegeneration, Speech apraxia, Babinski sign, Gait dist...	ORPHA:79244
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatic fibrosis, Elevated circulating hepatic transamina...	OMIM:619487
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Diarrhea, Vomiting, Gastroparesis, Slender build, Reduced tissue thymidine phosphorylase activity...	OMIM:603041
Immunodeficiency 27A	Pneumonia, Diarrhea, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Salmonell...	OMIM:209950
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm	ORPHA:69077
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal...	ORPHA:309246
Reticular Dysgenesis	Diarrhea, Failure to thrive, Skin rash, Weight loss, Chronic otitis media	ORPHA:33355
Tetrasomy 12P	Cachexia	ORPHA:884
Glycerol Kinase Deficiency	Vomiting, Increased urinary glycerol, Chronic pancreatitis, Lethargy, Episodic vomiting, Nausea, ...	OMIM:307030
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Horseshoe k...	OMIM:301111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Zygomycosis	Diarrhea, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Renal i...	ORPHA:73263
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Decreased me...	OMIM:277410
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
19Q13.11 Microdeletion Syndrome	Cachexia, Hypospadias, Failure to thrive	ORPHA:217346
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis	OMIM:607706
Insulinoma	Increased body weight, Abnormality of the pancreatic islet cells, Lethargy	ORPHA:97279
Infantile Krabbe Disease	Vomiting, Gastroesophageal reflux, Failure to thrive, Abnormal circulating enzyme concentration o...	ORPHA:206436
Snakebite Envenomation	Respiratory paralysis, Paralysis, Pseudobulbar paralysis	ORPHA:449285
Cholera	Acute kidney injury, Diarrhea, Vomiting, Aspiration pneumonia, Lethargy, Decreased urine output, ...	ORPHA:173
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H...	ORPHA:186
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv...	OMIM:269200
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Fai...	ORPHA:254892
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Lethargy	OMIM:604377
Congenital Myopathy 15	Vocal cord paralysis, Waddling gait	OMIM:620161
Krabbe Disease	Neurodegeneration, Diffuse cerebral atrophy, Hypertonia, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Cholecystitis, Elevated alkalin...	ORPHA:100086
X-Linked Creatine Transporter Deficiency	Cachexia, Ileus, Constipation	ORPHA:52503
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Failure to thrive, Lethargy, Micropenis, Hypospadias, Small for gestational age	OMIM:607143
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Pyoderma, Infect...	OMIM:307200
Adrenoleukodystrophy	Spastic paraplegia, Neurodegeneration, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, ...	OMIM:300100
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Failure to thrive in infancy, Lethargy, Chronic hepatic failure, Diffuse hepatic ste...	ORPHA:746
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Skin rash, S...	ORPHA:572
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss	ORPHA:33276
Perry Syndrome	Apathy, Depression, Weight loss	ORPHA:178509
Listeriosis	Arteritis, Diarrhea, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Periton...	ORPHA:533
Griscelli Syndrome	Hepatomegaly, Jaundice, Hepatitis, Splenomegaly	ORPHA:381
Oculogastrointestinal Muscular Dystrophy	Gastroparesis, Cachexia	ORPHA:1876
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis...	OMIM:240300
Alveolar Echinococcosis	Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp...	ORPHA:284
Tropical Pancreatitis	Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N...	ORPHA:103918
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Obesity,...	OMIM:203800
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Diarrhea, Hematochezia, Hepatitis, Chilblains, ...	OMIM:615846
Chronic Mucocutaneous Candidiasis	Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Cheilitis	ORPHA:1334
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Laryngeal Neuroendocrine Tumor	Weight loss, Oral-pharyngeal dysphagia	ORPHA:100083
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, Splenomegaly, ...	OMIM:620565
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Astrocytosis, Pontocerebellar atrophy	ORPHA:258
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system	OMIM:616239
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:228371
Lichen Planopilaris	Hepatitis	ORPHA:525
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Skin rash	ORPHA:391
Oculopharyngodistal Myopathy	Difficulty walking, Vocal cord paresis, Paraplegia, Loss of ambulation	ORPHA:98897
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic ...	OMIM:618278
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Vomiting, Failure to thrive in infancy, Osteomyelitis, Pustule...	ORPHA:171876
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Failure to thrive	OMIM:615838
Rett Syndrome	Cachexia, Gastroesophageal reflux, Constipation	OMIM:312750
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Loss of ambulation, Impaired tandem gait, Unsteady gait, Frequent falls	ORPHA:101097
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation	ORPHA:160148
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Dysphagia	ORPHA:589
Follicular Lymphoma	Weight loss, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Recurrent urinary tract infections...	ORPHA:83471
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Punctate keratitis, W...	ORPHA:92050
Juvenile Huntington Disease	Bradykinesia, Depression, Weight loss	ORPHA:248111
Dominant Beta-Thalassemia	Hepatic fibrosis, Diarrhea, Failure to thrive in infancy, Hypersplenism, Hepatosplenomegaly, Sple...	ORPHA:231226
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Abnormality of body weight, Skin rash, Decre...	ORPHA:2298
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy, Gliosis, Brain atrophy	OMIM:214150
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Felty Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Episcleritis, Splenomegaly, Synovitis, W...	ORPHA:47612
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity	ORPHA:85293
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Vomiting, Failure to thrive, 3-hydroxydicarboxylic aciduria, Splenomegaly, Letha...	OMIM:252010
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227990
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Diarrhea, Protracted diarrhea, Bloody di...	ORPHA:67
Cockayne Syndrome Type 3	Difficulty walking, Astrocytosis, Intention tremor, Unsteady gait, Brain atrophy	ORPHA:90324
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Ethylmalonic aciduria	OMIM:201470
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ...	OMIM:614376
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis	OMIM:217090
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis	ORPHA:292
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Renal insuffici...	ORPHA:85443
Genetic Transient Congenital Hypothyroidism	Prolonged neonatal jaundice, Lethargy, Constipation	ORPHA:226316
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati...	OMIM:234200
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal insufficiency, Uret...	ORPHA:49041
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss, Hepatomegaly,...	ORPHA:507
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp...	ORPHA:99776
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Myoclonus, Gliosis, Ataxia, Spastic tet...	OMIM:618321
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, N...	ORPHA:94080
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia, Chronic diarrhea	ORPHA:3217
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Gait disturbance, Hypertonia	ORPHA:682
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Hepatic calcification, Hepatome...	ORPHA:157
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Renal insufficiency, Skin rash, Intestinal obstruction, Hematuria, Prote...	ORPHA:183
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven...	ORPHA:1855
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Failure to thrive, Renal insufficiency, Lethargy, Glomerulopat...	ORPHA:79282
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:191
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating aldolase concentration...	ORPHA:732
Sarcoidosis	Nephrocalcinosis, Hepatic failure, Decreased liver function, Parotitis, Renal insufficiency, Port...	ORPHA:797
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Failure to thrive, Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:90674
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Elevated total serum tryptase, Decreased liver function, H...	ORPHA:98850
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227982
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Failure to thrive, Cholestasis, Enterocolitis, Constipation, Weight loss, Ste...	ORPHA:95427
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panniculitis	ORPHA:33577
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hematochezia, Diarrhea, Vomiting, Weight loss, Steatorrhea,...	ORPHA:2070
Histiocytoid Cardiomyopathy	Vomiting, Failure to thrive, Renal cyst, Lethargy, Hepatomegaly	ORPHA:137675
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon...	ORPHA:478029
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Pro...	ORPHA:48435
Sim1-Related Prader-Willi-Like Syndrome	Xerostomia, Failure to thrive, Obesity, Lethargy, Abdominal obesity, Micropenis	ORPHA:398079
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,...	ORPHA:31205
Vocal Cord And Pharyngeal Distal Myopathy	Difficulty walking, Vocal cord paresis, Unsteady gait, Amyotrophic lateral sclerosis	ORPHA:600
Primary Sjögren Syndrome	Arteritis, Depression, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatitis, Renal ...	ORPHA:289390
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Keratitis, Vomiting, Failure to thr...	ORPHA:1018
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Isaacs Syndrome	Weight loss	ORPHA:84142
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Hemiparesis, Rigidity, Paral...	ORPHA:2396
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Weight loss, Constipation	ORPHA:388
Huntington Disease	Depression, Decreased body mass index, Oral-pharyngeal dysphagia, Apathy, Weight loss, Bradykinesia	ORPHA:399
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Lethargy, Abnormal circulating enzyme concentration or activity, Failure to thrive	ORPHA:395
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Hepatitis	ORPHA:584
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Increased circulating lactate dehydrogenase concentr...	ORPHA:447
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Diarrhea, Weight loss, Failure to thrive	ORPHA:1842
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Lethargy, Constipation	ORPHA:90673
Mccune-Albright Syndrome	Renal phosphate wasting, Gastroesophageal reflux, Hepatitis, Cholestasis, Hyperphosphaturia, Rena...	ORPHA:562
Staphylococcal Necrotizing Pneumonia	Pneumonia, Lethargy, Acute infectious pneumonia	ORPHA:36238
Magel2-Related Prader-Willi-Like Syndrome	Gastroesophageal reflux, Xerostomia, Failure to thrive, Chronic constipation, Increased body weig...	ORPHA:398069
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei...	ORPHA:93126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, ...	ORPHA:228308
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Erythrokeratodermia Variabilis	Weight loss, Skin rash	ORPHA:317
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Functional abnormality of the bladder, Eczematoid dermatiti...	ORPHA:391487
Celiac Disease, Susceptibility To, 1	Depression, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Diarr...	OMIM:212750
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus	OMIM:619574
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Complete Atrioventricular Septal Defect	Hepatomegaly, Lethargy, Recurrent pneumonia, Failure to thrive	ORPHA:1329
Neuroendocrine Tumor Of The Colon	Elevated circulating hepatic transaminase concentration, Protracted diarrhea, Weight loss, Melena...	ORPHA:100080
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,...	OMIM:256700
Poliomyelitis	Fasciculations, Inability to walk, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
Neuroendocrine Tumor Of The Rectum	Hematochezia, Elevated circulating hepatic transaminase concentration, Protracted diarrhea, Const...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Elevated circulating hepatic transaminase concentration, Protracted diarrhea, Const...	ORPHA:100082
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Ketonuria, Apathy, Weight loss, Hepatomegaly	ORPHA:134
Pancreatoblastoma	Vomiting, Diarrhea, Pancreatic calcification, Weight loss, Jaundice	ORPHA:677
Biotinidase Deficiency	Eczematoid dermatitis, Organic aciduria, Skin rash, Lethargy, Decreased circulating biotinidase c...	ORPHA:79241
Ménétrier Disease	Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Weight loss, Nausea, Gi...	ORPHA:2494
Encephalitis Lethargica	Urinary incontinence, Lethargy, Bowel incontinence	ORPHA:83600
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ...	OMIM:300755
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Lethargy, Constipation, Reduced circulating aromatic L-amino a...	OMIM:608643
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Gait imbalance, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Tr...	OMIM:211530
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy, Vomiting, Dysphagia	OMIM:607483
Acute Disseminated Encephalomyelitis	Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Nausea, Viral hepatitis	ORPHA:83597
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cerebral atrophy, Neurodegeneration, Gait ataxia, Gait disturbance, Clonus, Ataxia, Poor coordina...	OMIM:616878
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Nephrolithia...	ORPHA:800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Cachexia	ORPHA:3380
Inhalational Botulism	Paralysis	ORPHA:254504
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Igg4-Related Aortitis	Hydronephrosis, Increased inflammatory response, Weight loss, Intestinal obstruction	ORPHA:449400
Allergic Bronchopulmonary Aspergillosis	Weight loss, Bronchiectasis	ORPHA:1164
Liposarcoma	Weight loss, Abnormality of the kidney	ORPHA:69078
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Intractable diarrhea, Diarrhea, Vomiting, Pustular rash, Hepatitis, Recurrent otitis m...	OMIM:619381
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Psoriasiform dermatitis, Interface hepatitis, Intestinal obstruction, Enterocolitis...	OMIM:243150
Eosinophilic Fasciitis	Myositis, Weight loss, Arthritis, Fasciitis	ORPHA:3165
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Chronic otitis media	ORPHA:3226
Marburg Hemorrhagic Fever	Uveitis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Renal insuf...	ORPHA:99826
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:270150
Osteosarcoma	Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact...	ORPHA:668
Trichinellosis	Skin rash, Nausea, Lethargy, Apathy, Conjunctivitis, Dysphagia	ORPHA:863
Camurati-Engelmann Disease	Urinary retention, Slender build, Splenomegaly, Elevated circulating aldolase concentration, Cach...	ORPHA:1328
Solitary Fibrous Tumor	Urinary retention, Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology	ORPHA:2126
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hepatic failure, Vomiting, Decreased liver function, Lethargy, Nausea	ORPHA:466650
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615919
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Dysphagia	ORPHA:449427
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Elevated circulatin...	ORPHA:3260
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Weight ...	ORPHA:100078
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Hypersplenism, Renal insufficiency, Splenomegaly, Gastr...	ORPHA:3261
Lead Poisoning	Chronic kidney disease, Depression, Vomiting, Skin rash, Renal tubular dysfunction, Constipation,...	ORPHA:330015
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Leptospirosis	Acute kidney injury, Uveitis, Diarrhea, Hepatitis, Skin rash, Elevated serum transaminases during...	ORPHA:509
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Ogden Syndrome	Lethargy	ORPHA:276432
Polyarteritis Nodosa	Weight loss, Abnormality of the kidney, Pericarditis	ORPHA:767
Multiple Endocrine Neoplasia Type 1	Depression, Diarrhea, Gastroesophageal reflux, Vomiting, Insulinoma, Nephrolithiasis, Lethargy, H...	ORPHA:652
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:36426
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Difficulty walking, Neurodegeneration, Rigidity, Ataxia, Spastic tetraplegia	OMIM:618476
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Lethargy	OMIM:620306
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Perry Syndrome	Depression, Bradykinesia, Apathy, Weight loss	OMIM:168605
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Huntington Disease-Like 1	Bradykinesia, Depression, Weight loss	ORPHA:157941
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Refractory Celiac Disease	Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concentration, Ab...	ORPHA:398063
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr...	ORPHA:340
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria	ORPHA:95626
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Vomiting, Intrarenal abscess, Infectious encephalitis, Pustule, Lethargy, Sinusitis, N...	ORPHA:68
Castleman Disease	Ureteral obstruction, Renal insufficiency, Intestinal obstruction, Hematuria, Weight loss, Jaundice	ORPHA:160
Fatal Familial Insomnia	Constipation, Dysphagia, Urinary retention, Weight loss	OMIM:600072
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Protracted diarrhea, Weight loss, Hepatomegaly	ORPHA:97287
Nijmegen Breakage Syndrome	Cachexia, Recurrent pneumonia, Chronic diarrhea, Pollakisuria	ORPHA:647
Cerebral Visual Impairment	Central nervous system degeneration, Cerebral palsy, Neurodegeneration, Clumsiness, Oculomotor ap...	ORPHA:447788
Hereditary Late-Onset Parkinson Disease	Depression, Chronic constipation, Apathy, Weight loss, Spastic/hyperactive bladder, Bradykinesia,...	ORPHA:411602
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Kawasaki Disease	Diarrhea, Hepatitis, Sterile pyuria, Skin rash, Cholecystitis, Proteinuria, Jaundice, Arthritis, ...	ORPHA:2331
Medulloblastoma	Lethargy, Elevated circulating hepatic transaminase concentration	ORPHA:616
Gaucher Disease	Splenic infarction, Cholelithiasis, Depression, Hepatic failure, Hepatitis, Osteomyelitis, Spleno...	ORPHA:355
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma...	ORPHA:143
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss, Bronchiectasis	ORPHA:411703
Giant Cell Arteritis	Hepatic failure, Depression, Renal insufficiency, Hematuria, Weight loss, Arthritis, Pericarditis	ORPHA:397
Cystinosis, Nephropathic	Hematuria, Weight loss, Hepatomegaly, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Failur...	OMIM:219800
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Protracted diarrhea, We...	ORPHA:100075
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Weight loss, Arthritis	ORPHA:3287
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Vesicoureteral reflux	ORPHA:3208
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulminant hepatitis	OMIM:308240
Juvenile Polyposis Of Infancy	Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Cachexia, Melena	ORPHA:79076
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Lujo Hemorrhagic Fever	Oliguria, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ...	ORPHA:319213
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Spasticity, Myoclonus, Vocal cord paralysis	ORPHA:500144
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:537
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Depression, Diarrhea, Skin rash, Neoplasm ...	ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Depression, Elevate...	OMIM:124000
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia	ORPHA:79102
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Int...	ORPHA:900
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Vocal cord paralysis, Poor fine moto...	ORPHA:99956
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
X-Linked Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Tip-toe gait, Vocal cord paralysis, Waddling gait	ORPHA:98863
Imerslund-Gräsbeck Syndrome	Vomiting, Failure to thrive, Proteinuria, Angular cheilitis, Weight loss, Constipation	ORPHA:35858
Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Tip-toe gait, Vocal cord paralysis, Waddling gait	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Gait disturbance, Tip-toe gait, Vocal cord paralysis, Waddling gait	ORPHA:98853
Acute Monoblastic/Monocytic Leukemia	Oliguria, Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:514
Pemphigus Vulgaris	Depression, Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Familial Glucocorticoid Deficiency	Vomiting, Diarrhea, Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Consti...	ORPHA:361
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy, Decreased liver function	OMIM:620423
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Renal tubu...	ORPHA:99885
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch...	ORPHA:436252
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Decreased body weight, Pancreatitis, Small for gesta...	OMIM:620371
Oromandibular Dystonia	Depression, Dysphagia, Weight loss	ORPHA:93958
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Depression, Pancreatic adenocarcinoma, Constipation, Weight loss, Ne...	ORPHA:440437
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia, Aspiration pneumonia	ORPHA:216866
Chronic Beryllium Disease	Weight loss, Lymphocytic interstitial pneumonia	ORPHA:133
Alobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Failure to thrive, Aspiration pneumonia, Lethargy,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Failure to thrive, Aspiration pneumonia, Lethargy,...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Failure to thrive, Aspiration pneumonia, Lethargy,...	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Failure to thrive, Aspiration pneumonia, Lethargy,...	ORPHA:220386
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Weight loss	ORPHA:103910
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Nausea, Microscopic hematuria	ORPHA:71273
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Diarrhea, Gastrointestinal hemorrhage, Neoplasm of the ...	ORPHA:97278
Thymoma	Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis	ORPHA:297
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Kufor-Rakeb Syndrome	Lethargy, Apathy, Urinary incontinence, Bradykinesia, Dysphagia, Bowel incontinence	ORPHA:306674
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Diamond-Blackfan Anemia	Renal agenesis, Elevated red cell adenosine deaminase activity, Horseshoe kidney, Lethargy, Hypos...	ORPHA:124
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Splenomegaly, Hepa...	OMIM:613673
Pyomyositis	Myositis, Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation	ORPHA:764
Immunodeficiency 31C	Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, ...	OMIM:614162
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Steppage gait	OMIM:601152
Seckel Syndrome	Cachexia	ORPHA:808
Occipital Horn Syndrome	Gastroesophageal reflux, Hepatitis, Recurrent urinary tract infections, Cholestasis, Gastroparesi...	ORPHA:198
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Weight loss,...	ORPHA:723
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Lethargy, Constipation, Overweight	ORPHA:226307
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Cerebellar atrophy, Facial paralysis, Difficulty walki...	ORPHA:99949
Gm1 Gangliosidosis	Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegal...	ORPHA:354
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the pancreas, Intest...	ORPHA:97283
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Weight loss	ORPHA:2221
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,...	ORPHA:29207
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Systemic Lupus Erythematosus	Discoid lupus rash, Depression, Malar rash, Hematuria, Proteinuria, Weight loss, Lupus nephritis,...	ORPHA:536
Nocardiosis	Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Osteomyelitis, I...	ORPHA:31204
Erdheim-Chester Disease	Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria, Retroperiton...	ORPHA:35687
Behçet Disease	Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, In...	ORPHA:117
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Bronchiectasis	ORPHA:79127
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Sterile pyuria, Beta 2-mi...	ORPHA:91500
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord ...	OMIM:617799
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocycl...	ORPHA:85408
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Elevated urinary homovanillic acid, El...	ORPHA:635
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Increased urinary cortisol level, Esophagiti...	ORPHA:913
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormality of the lower urinary tract, Peritonitis, Weig...	ORPHA:679
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Polycythemia Vera	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight lo...	ORPHA:729
Acrodermatitis Enteropathica	Cheilitis, Failure to thrive, Pustule, Weight loss, Conjunctivitis, Chronic diarrhea, Blepharitis	ORPHA:37
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Weight loss, Nephrotic syndrome, Abnormality of t...	ORPHA:29073
Stickler Syndrome	Gastroesophageal reflux, Slender build, Cachexia, Osteoarthritis, Chronic otitis media, Uveitis	ORPHA:828
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Weight loss, Pancreatitis, Jaundice, N...	ORPHA:370348
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Diarrhea, Gastrointestinal hemorrhage, Neoplasm of the ...	ORPHA:97261
Acute Promyelocytic Leukemia	Hematuria, Weight loss, Stomatitis	ORPHA:520
Chediak-Higashi Syndrome	Neurodegeneration, Gait disturbance, Tremor, Ataxia	OMIM:214500
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Marfan Syndrome	Slender build, Cachexia, Arthralgia/arthritis	ORPHA:558
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Elevated total serum tryptase, Splenomegaly, Weight loss, Hepatomegaly, Nausea	ORPHA:98849
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Skin rash, Chronic...	OMIM:301074
Cocaine Intoxication	Acute kidney injury, Vomiting, Increased circulating lactate dehydrogenase concentration, Hematur...	ORPHA:90068
Graves Disease	Weight loss	OMIM:275000
Gerstmann-Straussler Disease	Bradykinesia, Depression, Weight loss	OMIM:137440
Proteus Syndrome	Long penis, Splenomegaly, Renal cyst, Cachexia, Enlarged kidney	ORPHA:744
Lynch Syndrome	Gastrointestinal hemorrhage, Depression, Pancreatic adenocarcinoma, Neoplasm of the liver, Consti...	ORPHA:144
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Eisenmenger Syndrome	Bacterial endocarditis, Abnormality of the liver, Renal insufficiency, Lethargy, Hepatomegaly	ORPHA:97214
Glossopharyngeal Neuralgia	Depression, Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Thymic Carcinoma	Weight loss	ORPHA:99868
Loeffler Endocarditis	Weight loss, Pericarditis	ORPHA:75566
Riddle Syndrome	Enuresis nocturna, Pneumonia, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, C...	ORPHA:420741
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Diarrhea, Xerostomia, Urinary bladder in...	ORPHA:99921
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Depression, Weight loss, Organic aciduria	OMIM:301310
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
African Trypanosomiasis	Involuntary movements, Fasciculations, Difficulty walking, Abnormal central motor function, Akine...	ORPHA:3385
Vipoma	Intrahepatic cholestasis, Secretory diarrhea, Neoplasm of the pancreas, Intermittent jaundice, Ne...	ORPHA:97282
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste...	ORPHA:64
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Weight loss, Steatorrhea...	ORPHA:309031
Primary Intestinal Lymphangiectasia	Chronic diarrhea, Peritoneal effusion, Weight loss	ORPHA:90362
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Weight loss, Increased body w...	ORPHA:1501
Arnold-Chiari Malformation Type I	Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia	ORPHA:268882
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Vomiting, Pyelonephritis, Bladder diverticulum, Bronchiectasis	ORPHA:90348
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to t...	ORPHA:79318
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu...	OMIM:218330
Acute Adrenal Insufficiency	Diarrhea, Failure to thrive, Renal insufficiency, Decreased urinary potassium, Constipation, Weig...	ORPHA:95409
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Diarrhea, Failure to thrive, Gout, Renal tubular ac...	ORPHA:358
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Skin rash, Myositis, Constipation, Weight loss, Arthritis, Dysphagia...	ORPHA:93672
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss, Dysphagia, Intestinal obstruction	ORPHA:97286
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hematuria, Weight loss, Hepatomegaly, Bronchiectasis	ORPHA:60025
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Splenomegaly, Iridocyclitis, Hypercalciuria, Weight loss, Ar...	OMIM:181000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Spasticity, Falls, Tip-toe gait, Cerebral palsy, Neurodegeneration, Spastic dip...	OMIM:619475
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:75565
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis	OMIM:608710
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Hypospadias	ORPHA:251071
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Myositis, Keratoconjunctivitis sicca, Weight loss, Tubulointerstitial nephritis, Thyr...	ORPHA:79078
Intermediate Uveitis	Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Mucopolysaccharidosis, Type Ii	Neurodegeneration	OMIM:309900
Poems Syndrome	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:2905
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Central nervous system degeneration, Loss of ambulation, Gait dis...	ORPHA:581
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Constipation	OMIM:218700
Choreoacanthocytosis	Depression, Increased circulating lactate dehydrogenase concentration, Self-neglect, Elevated cir...	ORPHA:2388
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Abnormality o...	ORPHA:84
Glycine Encephalopathy	Lethargy	ORPHA:407
Hydranencephaly	Lethargy	ORPHA:2177
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Weight loss, Small for gestational age	ORPHA:424
Pineoblastoma	Paralysis	ORPHA:251909
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Hurler Syndrome	Neurodegeneration	OMIM:607014
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:50918
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Depression, Dysphagia, Weight loss	OMIM:607459
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Weight loss, Renal insufficiency	ORPHA:79430
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss, Increased circulating lactate dehydrogenase concentration	ORPHA:747
Malt Lymphoma	Posterior uveitis, Constipation, Weight loss	ORPHA:52417
Addison Disease	Diarrhea, Failure to thrive, Hashimoto thyroiditis, Decreased urinary potassium, Constipation, We...	ORPHA:85138
Short Syndrome	Weight loss	ORPHA:3163
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Spasticity, Neurodegeneration, Gliosis, Hypertonia, Spastic tetraparesis	OMIM:620455
Familial Thrombocytosis	Weight loss, Splenomegaly	ORPHA:71493
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Weight loss, Otitis media	ORPHA:576
Van Esch-O'Driscoll Syndrome	Unilateral vocal cord paralysis, Spasticity, Cerebellar atrophy, Cerebral atrophy	OMIM:301030
Nijmegen Breakage Syndrome	Neurodegeneration, Glioma	OMIM:251260
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:221
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Vomiting, Hypernatriuria, Failure to thrive, Weight loss, Urogenital sinus anomaly, R...	ORPHA:90794
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Spasticity, Ependymoma, Vocal cord paralysis, Hypertonia	ORPHA:798
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion	Depression, Diarrhea, Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblast...	ORPHA:99889
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Dysphagia, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Esophageal Atresia	Vocal cord paresis, Hypertonia	ORPHA:1199
Degcags Syndrome	Vocal cord paralysis	OMIM:619488
Oculopharyngodistal Myopathy 1	Weight loss, Dysphagia	OMIM:164310
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Tetraparesis, Spastic tetraplegia, Ataxia	ORPHA:263410
Acrofacial Dysostosis, Cincinnati Type	Abnormality of coordination, Lower limb spasticity, Myoclonus, Vocal cord paralysis	OMIM:616462
Williams-Beuren Syndrome	Incoordination, Poor coordination, Gait imbalance, Vocal cord paralysis	OMIM:194050
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Osteoarthritis	ORPHA:740
Primrose Syndrome	Neurodegeneration, Ataxia	OMIM:259050

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 Slc19a3

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 Slc19a3.

No publications found that use IMPC mice or data for Slc19a3.

Order Mouse and ES Cells

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
Slc19a3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc19a3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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