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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 (812 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)		Lethargy, Vomiting, Dysphagia	OMIM:607483
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome		Ataxia, Spastic tetraplegia, Tetraparesis	ORPHA:263410

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

Disease	Matching phenotypes	Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ...	ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis	OMIM:300857
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv...	OMIM:600795
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr...	ORPHA:282166
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi...	OMIM:143880
Diaminopentanuria	Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Failure to thrive, Lethargy	ORPHA:28
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres...	ORPHA:101112
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting	ORPHA:33402
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Aminoaciduria, Proximal tubulopathy, Vomiting, Failure to thrive	OMIM:612075
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, E...	OMIM:201475
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Lethargy, Failure to thri...	ORPHA:26792
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e...	ORPHA:275864
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Episodic vomiting, Lethargy	OMIM:618224
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive, Vomiting	ORPHA:622
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy	OMIM:610951
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive, Skin rash	ORPHA:26
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Central Diabetes Insipidus	Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia	ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Diarrhea, Hepatic ne...	ORPHA:71212
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Paralysis	OMIM:613710
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Spinocerebellar Ataxia 48	Cachexia, Urinary incontinence, Dysphagia, Depression	OMIM:618093
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F...	ORPHA:2394
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Hereditary Central Diabetes Insipidus	Lethargy, Diarrhea, Vomiting, Weight loss	ORPHA:30925
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Vomiting, Medium chain dicarboxylic...	OMIM:201450
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Paralysis	OMIM:616286
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Episodic vomiting, Ho...	OMIM:238970
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen...	OMIM:601104
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Glomerulopa...	ORPHA:77297
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Lethargy, Failure to thrive	OMIM:613561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Nephrocalcinosis, Lethargy, Failu...	OMIM:611590
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, S...	OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffli...	OMIM:221820
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis	OMIM:605285
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity	OMIM:615889
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati...	OMIM:607765
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Acute hepatic steatosis, Vomiting, Elevated urinary 3-methylcrotonylglycine level, Fai...	OMIM:210200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Increase...	OMIM:600649
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Arthritis, Cirrhosis, Lethargy	OMIM:602390
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Lethargy, Failure to thrive, Pancreatitis	ORPHA:79312
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Glycosuria, Lethargy, Failure to thrive	ORPHA:2089
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Lethargy, Patent ductus arteriosus, Small for gestational age	OMIM:610498
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti...	OMIM:251000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, In...	ORPHA:263455
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu...	OMIM:300635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Lethargy, Pancreatitis	ORPHA:289916
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Lethargy	OMIM:246900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Diarrhea, Dysphagia, Weight loss, Gastroesophageal reflu...	ORPHA:298
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting	OMIM:618226
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba...	OMIM:615157
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Constipation, Cachexia, Weight loss	OMIM:613662
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C...	OMIM:607136
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Lethargy	OMIM:619064
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai...	OMIM:618369
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria	OMIM:605899
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality...	ORPHA:2552
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Lethargy, Hepatic failure	ORPHA:156
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive, Vomiting	OMIM:237310
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat...	ORPHA:65682
Idiopathic Achalasia	Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia, Dysphagia	ORPHA:930
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gliosis, Gait...	OMIM:604484
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Difficulty walking, Astrocytosis	OMIM:611087
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Vomiting, Lethargy	OMIM:616483
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis,...	OMIM:615207
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Steatorrhea, Hepatic failure	ORPHA:75233
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Lethargy, Hyperlysinuria	OMIM:238750
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Methylmalonic aciduria, Lethargy, Failure to thrive, Homo...	OMIM:236270
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Vomiting, Const...	OMIM:606054
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis	OMIM:613002
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Leigh Syndrome	Failure to thrive, Hepatocellular necrosis	OMIM:256000
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease...	OMIM:614922
Severe Canavan Disease	Lethargy, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia	ORPHA:314911
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N...	OMIM:618999
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hep...	OMIM:614602
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig...	OMIM:615491
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Variegate Porphyria	Paralysis	OMIM:176200
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy	ORPHA:100024
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Splenomegaly, Diarrhea, Constipation, Letha...	ORPHA:99745
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Nausea, Jaundice, Fulminant hepatitis, Hepatic failu...	OMIM:618549
Citrullinemia Type I	Vomiting, Gastroesophageal reflux, Hepatic failure, Lethargy, Failure to thrive	ORPHA:247525
Dihydropyrimidinase Deficiency	Lethargy, Uraciluria, Reduced dihydropyrimidine dehydrogenase level	OMIM:222748
Idiopathic Intracranial Hypertension	Obesity, Depression, Vomiting, Lethargy, Nausea	ORPHA:238624
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Early Myoclonic Encephalopathy	Lethargy, Dysphagia	ORPHA:1935
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria...	OMIM:229600
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Substantia nigra gliosis, Facial-ling...	ORPHA:276244
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Renal hypoplas...	ORPHA:97362
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Ileus, Weight loss	ORPHA:83469
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia	ORPHA:1133
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis, Protracted diarrhea	ORPHA:100093
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Nausea, Jaundice, ...	ORPHA:469
Moynahan Syndrome	Cachexia	ORPHA:2574
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni...	OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Pancreatitis, Lethargy	ORPHA:27
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glo...	ORPHA:91138
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Diarrhea, Vomiting, Lethargy, Failure to thrive, Nausea	ORPHA:927
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Hepat...	ORPHA:247585
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Glutaric Acidemia Type 3	Lethargy, Glutaric aciduria, Ketonuria, Failure to thrive	ORPHA:35706
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Hepatit...	ORPHA:33110
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly...	ORPHA:169160
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
Holocarboxylase Synthetase Deficiency	Eczema, Keratoconjunctivitis, Weight loss, Organic aciduria, Lethargy, Perioral eczema	ORPHA:79242
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Focal pancreatic i...	ORPHA:276575
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Lacrimoauriculodentodigital Syndrome 1	Renal agenesis, Coronal hypospadias, Xerostomia, Conjunctivitis, Nephrosclerosis	OMIM:149730
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly	ORPHA:276556
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Abnormality of the liver, Vomiting, Lethargy, Failure ...	ORPHA:2169
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepati...	ORPHA:90062
Machado-Joseph Disease Type 1	Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Vomiting, Cirrhosis, Lethargy, Oroticaciduria	OMIM:215700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me...	ORPHA:319218
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Caroli Disease	Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting,...	ORPHA:53035
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine, Vomiting, Pancreatitis	OMIM:248600
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Lethargy, Large for gestational age	ORPHA:324575
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocar...	ORPHA:3452
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Ketonuria, Methylmalonic aciduria, Vomiting, Decreased methylmalonyl-CoA mutase act...	OMIM:251110
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Failure to thrive, Vomiting	OMIM:618228
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea...	OMIM:253260
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:2198
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Patent ductus arteriosus, Methylmalonic aciduria, Gastroe...	OMIM:614857
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Renal...	ORPHA:275761
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Diarrhea, Cachexia	ORPHA:2930
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Huntington Disease-Like 2	Weight loss, Bradykinesia, Depression, Apathy, Inertia	OMIM:606438
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy...	OMIM:611182
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Erythroderma, Failure ...	OMIM:304790
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertoni...	ORPHA:309854
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr...	OMIM:278300
Idiopathic Congenital Hypothyroidism	Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:95717
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Reduced number of intrahepatic bile...	ORPHA:79284
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A...	OMIM:207900
Transcobalamin Ii Deficiency	Hepatomegaly, Diarrhea, Methylmalonic aciduria, Vomiting, Lethargy, Failure to thrive	OMIM:275350
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Apat...	ORPHA:465508
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria, Failure to thrive	OMIM:250620
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduria, Microvesicular ...	OMIM:617156
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Vo...	OMIM:251100
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lethargy, Infectious...	ORPHA:83317
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g...	ORPHA:85450
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive, Gastroesophageal reflux	OMIM:611523
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology	ORPHA:85447
Isolated Atp Synthase Deficiency	Hepatomegaly, 3-Methylglutaconic aciduria, Renal hypoplasia, Lethargy	ORPHA:254913
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Abnormal renal corticomedu...	OMIM:617397
Isovaleric Acidemia	Lethargy, Vomiting, Hyperglycinuria	OMIM:243500
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting	OMIM:618225
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Renpenning Syndrome	Hypospadias, Cachexia	ORPHA:3242
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Decreased methionine synthase activity, Skin rash, Small for gestational age, Cysta...	OMIM:277380
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Lethargy, Decreased glomerular filtration...	ORPHA:470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Babinski sign, Inability to walk by childhood/adolescence, Vocal cord paralysis,...	ORPHA:99947
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ...	ORPHA:171
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia	OMIM:616801
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly, Increased circulat...	ORPHA:824
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Mcdonough Syndrome	Cachexia	ORPHA:2471
Cyclic Vomiting Syndrome	Lethargy, Vomiting, Nausea	OMIM:500007
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i...	OMIM:203800
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Vomiting, Propionyl-CoA carb...	OMIM:210210
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus rash, Diarrhea, ...	ORPHA:93552
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Decrea...	ORPHA:415
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Lethargy	OMIM:229700
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea...	ORPHA:440713
Chronic Hiccup	Weight loss, Depression	ORPHA:396
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis	OMIM:615490
Intestinal Dysmotility Syndrome	Failure to thrive, Diarrhea, Projectile vomiting, Weight loss	OMIM:620045
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Diarrhea, L...	ORPHA:20
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, 3-hydroxyisovaleric aciduria, Lactic...	OMIM:615751
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Diarrhea, He...	ORPHA:549
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Diarrhea, Lethargy	ORPHA:99828
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Atrophy of the spi...	OMIM:602433
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Tuberculosis	Weight loss	ORPHA:3389
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Lethargy, Hepatic steatosis	OMIM:212138
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Constipation	ORPHA:101150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:311250
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy	OMIM:617105
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Gait ataxia, Steppage gait, Difficulty walking, Loss of ambulation, Vocal cord ...	OMIM:614895
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla...	OMIM:301068
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Nephropathy, Chronic diarrhea...	ORPHA:330001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria	OMIM:618120
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing...	OMIM:308230
Pelizaeus-Merzbacher Disease	Cachexia, Abnormality of the urinary system, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in...	ORPHA:26790
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Small for gestational age	OMIM:312170
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte...	OMIM:266600
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Lethargy, Hepatic f...	ORPHA:159
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Vomiting, Lethargy	OMIM:614299
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Meningococcal Meningitis	Renal insufficiency, Projectile vomiting, Skin rash, Lethargy, Infectious encephalitis	ORPHA:33475
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Nephrolithia...	OMIM:617321
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Diarrhea, Low alkaline phosphatase, Lethargy, Failure to thrive	OMIM:201100
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk...	OMIM:614298
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis	OMIM:616287
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Failure to thrive	OMIM:610965
Necrotizing Enterocolitis	Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Lethargy	ORPHA:391673
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss	ORPHA:654
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Increase...	ORPHA:454836
Evans Syndrome	Lethargy, Jaundice	ORPHA:1959
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive, Vomiting	OMIM:237300
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Abnormality of the pancr...	ORPHA:54251
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Chronic diarrhea, Bronchiectasis, Cholestasis, Vomiting, Gastroesophageal reflux, R...	OMIM:620233
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro...	OMIM:277400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Thyroid Dyshormonogenesis 1	Lethargy, Constipation	OMIM:274400
Holocarboxylase Synthetase Deficiency	Skin rash, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Vomiting, Lethargy, ...	OMIM:253270
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic...	OMIM:617303
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Familial Hypoaldosteronism	Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tubular acidosis, Letha...	ORPHA:427
Isolated Complex I Deficiency	Hepatomegaly, Proximal tubulopathy, Vomiting, Lethargy, Failure to thrive	ORPHA:2609
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux...	OMIM:619377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Obesity, Abnormality of the urinary system, ...	ORPHA:813
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Constipation, Cachexia	ORPHA:371364
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ...	ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Familial Thyroid Dyshormonogenesis	Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:95716
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea	ORPHA:49827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts...	OMIM:208500
Dyskeratosis Congenita, Autosomal Dominant 1	Interstitial pneumonitis, Cirrhosis, Hepatic necrosis	OMIM:127550
Glucose-Galactose Malabsorption	Renal insufficiency, Diarrhea, Nephrolithiasis, Weight loss, Hematuria, Vomiting, Failure to thrive	ORPHA:35710
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia, Dysmetria, Bradykinesia...	OMIM:610217
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia	OMIM:618186
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm	ORPHA:69077
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomegaly, ...	OMIM:277900
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffling gait, ...	OMIM:168601
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia	OMIM:233910
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss	OMIM:191390
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Diarrhea, Xerostomia, Hematochezia, Vomiting	OMIM:175500
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Late-Onset Isolated Acth Deficiency	Diarrhea, Hepatitis, Weight loss, Constipation, Lethargy, Failure to thrive, Hashimoto thyroiditis	ORPHA:199299
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Charcot-Marie-Tooth Disease Type 4A	Inability to walk, Unsteady gait, Poor gross motor coordination, Poor fine motor coordination, Vo...	ORPHA:99948
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc...	OMIM:619487
Krabbe Disease	Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Small for gestational age, Patent ductus arteriosus, Recurrent pneumonia, Lethargy, ...	OMIM:607143
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Neurodegeneration, Gait disturbance,...	ORPHA:79244
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor...	ORPHA:186
Reticular Dysgenesis	Skin rash, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive	ORPHA:33355
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Weight loss, Pancreatitis, Ab...	ORPHA:188
Tetrasomy 12P	Cachexia	ORPHA:884
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Chr...	OMIM:613385
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Diarrhea, Hepatosplenomegaly, Weight lo...	OMIM:209950
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Lethargy, Depression, Prolonged neonatal jaundice	ORPHA:99832
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Bronchiectasis, Hepati...	ORPHA:1163
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis	OMIM:607706
Cholera	Abnormality of renal excretion, Diarrhea, Vomiting, Aspiration pneumonia, Lethargy, Acute kidney ...	ORPHA:173
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Cachexia, Vomiting, Gastroesophageal reflu...	ORPHA:206436
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methionine synthase activity, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutas...	OMIM:277410
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepatocellular necr...	OMIM:618278
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Insulinoma	Lethargy, Abnormality of the pancreatic islet cells, Increased body weight	ORPHA:97279
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Nausea, Infectiou...	ORPHA:73263
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Lethargy	OMIM:604377
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Bipolar affective disorder, Gastroparesis, Depression, Bradykinesi...	ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Le...	ORPHA:746
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga...	ORPHA:100086
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted...	ORPHA:572
X-Linked Creatine Transporter Deficiency	Ileus, Constipation, Cachexia	ORPHA:52503
Perry Syndrome	Weight loss, Apathy, Depression	ORPHA:178509
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Listeriosis	Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea, Pyelonep...	ORPHA:533
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti...	ORPHA:103918
Griscelli Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Hepatitis	ORPHA:381
Kaposi Sarcoma	Skin rash, Abnormality of the spleen, Diarrhea, Weight loss, Abnormality of the liver	ORPHA:33276
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Gastroparesis, Cachexia, Diarrhea, Weight loss, Constipation, Vomiting, Dysphagia, Intermittent d...	OMIM:603041
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrhea, Chronic mucocuta...	OMIM:240300
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Laryngeal Neuroendocrine Tumor	Weight loss, Oral-pharyngeal dysphagia	ORPHA:100083
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni...	ORPHA:183675
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis	OMIM:620161
Oculogastrointestinal Muscular Dystrophy	Gastroparesis, Cachexia	ORPHA:1876
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Lethargy, Episodic v...	OMIM:307030
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in central nervous system	OMIM:616239
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria	ORPHA:1334
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Di...	OMIM:615846
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Lichen Planopilaris	Hepatitis	ORPHA:525
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Pontocerebellar atrophy, Astrocytosis	ORPHA:258
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Myasthenia Gravis	Myositis, Hepatitis, Glycosuria, Rheumatoid arthritis, Dysphagia, Hashimoto thyroiditis	ORPHA:589
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Failure to thrive	OMIM:615838
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation	ORPHA:160148
Oculopharyngodistal Myopathy	Loss of ambulation, Vocal cord paresis, Paraplegia, Difficulty walking	ORPHA:98897
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Failure to thrive, Pneumonia, Atypical or prolonge...	ORPHA:83471
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, D...	ORPHA:49041
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Vomiting, C...	ORPHA:171876
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn motor neurons...	ORPHA:79139
Juvenile Huntington Disease	Bradykinesia, Weight loss, Depression	ORPHA:248111
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neurodegeneration, Brain atrophy	OMIM:214150
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Splenome...	ORPHA:47612
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Patent ductus arteriosus, Horseshoe kidney, Abnor...	ORPHA:99776
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Weight loss	ORPHA:545
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Proteinuria, Abnormality of body weight, Osteoarthritis, Biliary cirrhosis,...	ORPHA:2298
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Unsteady gait, Impaired tandem gait, Loss of ambulation, Vocal cord paresis, Frequent falls	ORPHA:101097
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Obesity, Cachexia	ORPHA:85293
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Skin rash, Weight loss	ORPHA:391
Congenital Tufting Enteropathy	Chronic diarrhea, Secretory diarrhea, Weight loss, Arthritis, Cholestatic liver disease, Vomiting...	ORPHA:92050
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Ethylmalonic aciduria	OMIM:201470
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Diarrhea, Chronic hepatitis,...	ORPHA:231226
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou...	ORPHA:227990
Genetic Transient Congenital Hypothyroidism	Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:226316
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Plasminogen Deficiency, Type I	Nephrolithiasis, Nephritis, Conjunctivitis, Periodontitis	OMIM:217090
Brucellosis	Liver abscess, Knee osteoarthritis, Abnormality of the liver, Vomiting, Infectious encephalitis, ...	ORPHA:1304
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations	ORPHA:682
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis	ORPHA:292
Cockayne Syndrome Type 3	Unsteady gait, Astrocytosis, Difficulty walking, Brain atrophy, Intention tremor	ORPHA:90324
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypospadias, Splenomegaly, Lacti...	OMIM:252010
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni...	ORPHA:79282
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Gliosis, M...	OMIM:618321
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Proteinuria, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven...	ORPHA:1855
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ...	OMIM:614376
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Dia...	ORPHA:100085
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Chronic mucocutaneou...	ORPHA:227982
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Melena, Hema...	ORPHA:319251
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Rhinitis	ORPHA:507
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Cachexia, Steatorrhea	ORPHA:3217
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Intestinal obstruction, Renal in...	ORPHA:183
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Gastroparesis, Proteinuria, Abnor...	ORPHA:85443
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Diarrhea, Weight loss, Failure to thrive	ORPHA:1842
Sarcoidosis	Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Portal hypertension, Erythema nodosum...	ORPHA:797
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Hypersplenism, Diarrhe...	ORPHA:98850
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Constipation, Prolonged neonatal jaundice, Lethargy, Failure to thrive	ORPHA:90674
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Weight...	ORPHA:732
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Secondary Short Bowel Syndrome	Diarrhea, Enterocolitis, Cholestasis, Weight loss, Constipation, Vomiting, Steatorrhea, Failure t...	ORPHA:95427
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Sim1-Related Prader-Willi-Like Syndrome	Xerostomia, Obesity, Abdominal obesity, Lethargy, Micropenis, Failure to thrive	ORPHA:398079
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Eosinophilic Gastroenteritis	Allergic rhinitis, Diarrhea, Atopic dermatitis, Dysphagia, Weight loss, Hematochezia, Vomiting, S...	ORPHA:2070
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Vomiting, Lethargy, Failure to thrive	ORPHA:137675
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Failure to thrive, Homocystinuria, Lethargy	ORPHA:395
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Combined Oxidative Phosphorylation Defect Type 29	Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Abnormal erythrocyte enzyme level, Jaundice, C...	ORPHA:447
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Isaacs Syndrome	Weight loss	ORPHA:84142
Hirschsprung Disease	Intestinal obstruction, Failure to thrive in infancy, Diarrhea, Weight loss, Constipation	ORPHA:388
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Huntington Disease	Oral-pharyngeal dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index	ORPHA:399
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Hypoperistalsis, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:1018
Mccune-Albright Syndrome	Hyperphosphaturia, Hepatocellular adenoma, Hepatitis, Cholestasis, Renal phosphate wasting, Renal...	ORPHA:562
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration	OMIM:146500
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti...	ORPHA:289390
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Magel2-Related Prader-Willi-Like Syndrome	Xerostomia, Increased body weight, Chronic constipation, Abdominal obesity, Gastroesophageal refl...	ORPHA:398069
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Diarrhea, Thyroiditis, Depression, Weight loss, Vomiting, ...	OMIM:212750
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Hepatitis	ORPHA:584
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Jaundice, Diarrhea, Hepatitis, Cheilitis, Ster...	ORPHA:2331
Staphylococcal Necrotizing Pneumonia	Acute infectious pneumonia, Lethargy, Pneumonia	ORPHA:36238
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Erythrokeratodermia Variabilis	Skin rash, Weight loss	ORPHA:317
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,...	ORPHA:228308
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis, Unsteady gait, Difficulty walking	ORPHA:600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Diarrhea, Functional abnormality of the bladder, He...	ORPHA:391487
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Vomiting, Dysphagia	OMIM:607483
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat...	ORPHA:79128
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis	OMIM:619574
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, Tongue fasciculations, Tr...	OMIM:211530
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u...	OMIM:256700
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Ménétrier Disease	Gastrointestinal hemorrhage, Nausea, Diarrhea, Weight loss, Gastroesophageal reflux, Vomiting, Gi...	ORPHA:2494
Encephalitis Lethargica	Lethargy, Urinary incontinence, Bowel incontinence	ORPHA:83600
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Fasciculations	ORPHA:2912
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:90673
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Pustule, Intrarenal abscess, Vomiting, Lethargy, Infec...	ORPHA:68
Complete Atrioventricular Septal Defect	Hepatomegaly, Failure to thrive, Recurrent pneumonia, Lethargy	ORPHA:1329
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Biotinidase Deficiency	Skin rash, Organic aciduria, Conjunctivitis, Lethargy, Eczematoid dermatitis, Decreased circulati...	ORPHA:79241
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Spastic di...	OMIM:616878
Schwartz-Jampel Syndrome	Cachexia, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Decrease...	ORPHA:800
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Vomiting, Nausea, Myelitis	ORPHA:83597
Inhalational Botulism	Paralysis	ORPHA:254504
Trisomy 18	Cachexia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Diarrhea, Weight loss, Apathy, Vomiting	ORPHA:134
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Bloody diarrhea, Hematochezia, Protracted diarrhea, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Bloody diarrhea, Hematochezia, Protracted diarrhea, ...	ORPHA:100082
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Protracted diarrhea, Melena, Bloody diarrhea, Weight...	ORPHA:100080
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Hydronephrosis, Weight loss	ORPHA:449400
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Enterocolitis, Bloody diarrhea, Hematochezia, In...	OMIM:243150
Trichinellosis	Skin rash, Apathy, Conjunctivitis, Dysphagia, Lethargy, Nausea	ORPHA:863
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Weight loss, Neoplasm of the liver, Urinary retention, Constipation	ORPHA:2126
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Diarrhea...	OMIM:619381
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Hepatomegaly, Weight loss, Splenomegaly	ORPHA:3226
Eosinophilic Fasciitis	Arthritis, Fasciitis, Weight loss, Myositis	ORPHA:3165
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Maculopapular exanthema, Skin r...	ORPHA:99826
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Elevated hepatic iron concentrat...	OMIM:619991
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Weight loss	ORPHA:1164
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Vomiting, Decreased liver function, Lethargy, Hepatic failure, Nausea	ORPHA:466650
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Urinary retention, Slender build, Elevated circulating aldo...	ORPHA:1328
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, He...	ORPHA:3261
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia	OMIM:615919
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Diarrhea, Patent ductus arteriosus, Hematochezia, Melena, ...	ORPHA:79076
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Hydronephrosis, Intermitten...	ORPHA:100078
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas...	OMIM:617595
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Pancreatoblastoma	Jaundice, Diarrhea, Weight loss, Vomiting, Pancreatic calcification	ORPHA:677
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Weight loss	ORPHA:767
Lead Poisoning	Skin rash, Small for gestational age, Chronic kidney disease, Depression, Renal tubular dysfuncti...	ORPHA:330015
Perry Syndrome	Bradykinesia, Weight loss, Apathy, Depression	OMIM:168605
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hematemesis, Diarrhea, Insulinoma, Nephrolithiasis, Hypercalciuria, Dep...	ORPHA:652
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom...	ORPHA:3260
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spasticity	OMIM:618476
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Glandular hypospadias	OMIM:620306
Ogden Syndrome	Lethargy	ORPHA:276432
Huntington Disease-Like 1	Bradykinesia, Weight loss, Depression	ORPHA:157941
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Depression, Bradykinesia, Chronic constipation, Weight loss, Apathy,...	ORPHA:411602
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Nijmegen Breakage Syndrome	Pollakisuria, Chronic diarrhea, Recurrent pneumonia, Cachexia	ORPHA:647
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Diarrhea, Hepatitis, Uve...	ORPHA:509
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Hematemesis, D...	ORPHA:340
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas...	ORPHA:398063
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Fatal Familial Insomnia	Urinary retention, Weight loss, Constipation, Dysphagia	OMIM:600072
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Renal insuffic...	ORPHA:36426
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacteria...	ORPHA:2072
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Renal neoplasm,...	ORPHA:440437
Medulloblastoma	Elevated hepatic transaminase, Lethargy	ORPHA:616
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:143
Takayasu Arteritis	Increased inflammatory response, Weight loss, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Depression, Hematuria, Arthritis, Weight loss, Hepatic failure	ORPHA:397
Castleman Disease	Renal insufficiency, Intestinal obstruction, Jaundice, Weight loss, Hematuria, Ureteral obstruction	ORPHA:160
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis	OMIM:308240
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Weight loss	ORPHA:3208
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Gaucher Disease	Hepatomegaly, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, Depression, He...	ORPHA:355
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Vocal cord paralysis, Cerebral cortical atrophy, Myoclonus	ORPHA:500144
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Weight loss	ORPHA:411703
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Skin...	ORPHA:97280
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten...	ORPHA:33001
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Weight loss, Protracted diarrhea, Hepatic failure	ORPHA:97287
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Myocardit...	ORPHA:319213
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Bloody diarrhea, Protracted diarrhea, M...	ORPHA:100075
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Tip-toe gait, Gait disturbance	ORPHA:98863
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Renal insuffic...	ORPHA:537
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Tip-toe gait, Gait disturbance	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Tip-toe gait, Gait disturbance	ORPHA:98853
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Oliguria, Weight loss	ORPHA:514
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Imerslund-Gräsbeck Syndrome	Proteinuria, Angular cheilitis, Weight loss, Constipation, Vomiting, Failure to thrive	ORPHA:35858
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Vocal cord paralysis, Poor fine motor coordination, Tip-toe gait, Diff...	ORPHA:99956
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Bloody diarrhea, Abnormal ductus choledochus morphology, Hash...	ORPHA:436252
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg...	ORPHA:729
Oromandibular Dystonia	Weight loss, Dysphagia, Depression	ORPHA:93958
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Weight loss	ORPHA:103910
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Weight loss, Hypernatriuria, Co...	ORPHA:361
Alobar Holoprosencephaly	Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal reflux, Constipat...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal reflux, Constipat...	ORPHA:93926
Lobar Holoprosencephaly	Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal reflux, Constipat...	ORPHA:93924
Semilobar Holoprosencephaly	Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal reflux, Constipat...	ORPHA:220386
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Nausea	ORPHA:71273
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis	ORPHA:99867
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Depression, Wei...	ORPHA:144
Gm1 Gangliosidosis	Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Weight loss, Decreased beta-galactosi...	ORPHA:354
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations	ORPHA:297
Diamond-Blackfan Anemia	Renal agenesis, Hypospadias, Small for gestational age, Horseshoe kidney, Lethargy, Elevated red ...	ORPHA:124
Kufor-Rakeb Syndrome	Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy	ORPHA:306674
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Intr...	ORPHA:97278
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Weight loss	ORPHA:764
Seckel Syndrome	Cachexia	ORPHA:808
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating l...	OMIM:613673
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Weigh...	ORPHA:99885
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Steppage gait	OMIM:601152
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Occipital Horn Syndrome	Recurrent urinary tract infections, Gastroparesis, Jaundice, Hepatitis, Cholestasis, Bladder dive...	ORPHA:198
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Weight loss	ORPHA:2221
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal interstitial e...	ORPHA:91500
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Inability to walk, Gait ataxia, Tongue fasciculations, Difficulty walking, He...	ORPHA:99949
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Intr...	ORPHA:97283
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Pneumocystosis	Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral candidiasis, Incr...	ORPHA:723
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Lethargy, Constipation, Prolonged neonatal jaundice	ORPHA:226307
Immunodeficiency 31C	Hepatomegaly, Osteomyelitis, Eczema, Splenomegaly, Diarrhea, Bronchiectasis, Chronic mucocutaneou...	OMIM:614162
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Diarrhea, Enthesitis, W...	ORPHA:29207
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Behçet Disease	Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Renal...	ORPHA:117
Stickler Syndrome	Cachexia, Osteoarthritis, Uveitis, Gastroesophageal reflux, Chronic otitis media, Slender build	ORPHA:828
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Peritonitis, Weight loss, Arteritis, Abnormality of the lower urinar...	ORPHA:679
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Jaundice, Weight loss, Increased circulating lactate dehydrogenase conc...	ORPHA:370348
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyper...	OMIM:617799
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Hepatosplenomegaly, Uveitis, Enthe...	ORPHA:85408
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Nocardiosis	Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy...	ORPHA:31204
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy...	ORPHA:35687
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Jaundice, ...	ORPHA:913
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Acrodermatitis Enteropathica	Pustule, Chronic diarrhea, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Multiple Myeloma	Splenomegaly, Abnormality of the bladder, Weight loss, Nephrotic syndrome, Nephropathy, Acute kid...	ORPHA:29073
Marfan Syndrome	Arthralgia/arthritis, Slender build, Cachexia	ORPHA:558
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Intr...	ORPHA:97261
Chediak-Higashi Syndrome	Tremor, Gait disturbance, Neurodegeneration, Ataxia	OMIM:214500
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Acute Promyelocytic Leukemia	Stomatitis, Hematuria, Weight loss	ORPHA:520
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Patent ductus arteriosus, Abnormality of the liver, Bacterial ...	ORPHA:97214
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Bloody diarrhea, Hematuria, Tubulointerstitial nephritis, Coliti...	ORPHA:90068
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Splenomegaly, Diarrhea, Weight loss, Elevated total serum tryptase, Nausea	ORPHA:98849
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Proteus Syndrome	Splenomegaly, Cachexia, Long penis, Renal cyst	ORPHA:744
Gerstmann-Straussler Disease	Bradykinesia, Weight loss, Depression	OMIM:137440
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Weight loss, Arthritis, Inflammation of...	OMIM:301074
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Glossopharyngeal Neuralgia	Weight loss, Oral-pharyngeal dysphagia, Depression	ORPHA:221098
Riddle Syndrome	Pneumonia, Diarrhea, Recurrent pneumonia, Enuresis nocturna, Weight loss, Arthritis, Otitis media...	ORPHA:420741
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Hypospadias, Obesity, Weight loss	ORPHA:251071
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Thymic Carcinoma	Weight loss	ORPHA:99868
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
African Trypanosomiasis	Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Choreoatheto...	ORPHA:3385
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Secretory diarrhea, Extrahepati...	ORPHA:97282
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine pancreatic insu...	ORPHA:309031
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight...	ORPHA:1501
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Vomiting	ORPHA:90348
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu...	ORPHA:64
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia	ORPHA:268882
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Abnormal liver parenchyma morphology, N...	ORPHA:79318
Acute Adrenal Insufficiency	Renal insufficiency, Decreased urinary potassium, Renal salt wasting, Diarrhea, Weight loss, Cons...	ORPHA:95409
Primary Intestinal Lymphangiectasia	Chronic diarrhea, Peritoneal effusion, Weight loss	ORPHA:90362
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Phimosis, Urinary bladder inflammation, Diarrhea, Xeros...	ORPHA:99921
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhe...	ORPHA:358
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Weight loss, Arthritis, Constipat...	ORPHA:93672
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Dysphagia	ORPHA:97286
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:75565
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,...	OMIM:619475
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media	OMIM:608710
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial neph...	ORPHA:79078
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis, Hypercalciuria, Weight loss, ...	OMIM:181000
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu...	ORPHA:84
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Constipation	OMIM:218700
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Bronchiectasis, Weight loss, Hematuria	ORPHA:60025
Mucopolysaccharidosis, Type Ii	Neurodegeneration	OMIM:309900
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Central nervous system degeneration, Hyperto...	ORPHA:581
Glycine Encephalopathy	Lethargy	ORPHA:407
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte...	ORPHA:2388
Hydranencephaly	Lethargy	ORPHA:2177
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Hurler Syndrome	Neurodegeneration	OMIM:607014
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Pineoblastoma	Paralysis	ORPHA:251909
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Gastroparesis, Dysphagia, Depression	OMIM:607459
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Pustule, Splenomegaly, Myocarditis, Weigh...	ORPHA:50918
Malt Lymphoma	Constipation, Posterior uveitis, Weight loss	ORPHA:52417
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Weight loss	ORPHA:79430
Addison Disease	Decreased urinary potassium, Renal salt wasting, Diarrhea, Weight loss, Constipation, Failure to ...	ORPHA:85138
Short Syndrome	Weight loss	ORPHA:3163
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce...	OMIM:233450
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:747
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Nijmegen Breakage Syndrome	Neurodegeneration, Glioma	OMIM:251260
Familial Thrombocytosis	Splenomegaly, Weight loss	ORPHA:71493
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Spasticity, Unilateral vocal cord paralysis, Cerebral atrophy	OMIM:301030
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Otitis media, Hepatosplenomegaly	ORPHA:576
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Weight loss, Hypernatri...	ORPHA:90794
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Schinzel-Giedion Syndrome	Ependymoma, Vocal cord paralysis, Hypertonia, Spasticity, Cerebral cortical atrophy	ORPHA:798
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Poems Syndrome	Weight loss	ORPHA:2905
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, Aspiration pneumonia, Dysphagia	ORPHA:2020
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Diarrhea, I...	ORPHA:99889
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Dermatomyositis	Myocarditis, Pericarditis, Weight loss, Arthritis	ORPHA:221
Esophageal Atresia	Vocal cord paresis, Hypertonia	ORPHA:1199
Oculopharyngodistal Myopathy 1	Weight loss, Dysphagia	OMIM:164310
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Degcags Syndrome	Vocal cord paralysis	OMIM:619488
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Ataxia, Spastic tetraplegia, Tetraparesis	ORPHA:263410
Williams-Beuren Syndrome	Poor coordination, Vocal cord paralysis, Gait imbalance, Incoordination	OMIM:194050
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Osteoarthritis, Weight loss	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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