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Gene: Dbt MGI:105386

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dihydrolipoamide branched chain transacylase E2

Synonyms:

BCKAD E2, D3Wsu60e, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, dihydrolipoyl transacylase

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 Dbt 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 Dbt (1 diseases)
Human diseases predicted to be associated with Dbt (747 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Maple Syrup Urine Disease		Lethargy, Increased level of hippuric acid in urine	OMIM:248600

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

Disease	Matching phenotypes	Source
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hyper-Beta-Alaninemia	Increased urinary taurine, Neonatal respiratory distress	OMIM:237400
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Threoninemia	Hyperthreoninuria	OMIM:273770
Carnosinemia	Carnosinuria	OMIM:212200
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Lethargy, Hyperlysinuria	OMIM:238750
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Homocarnosinosis	Carnosinuria	OMIM:236130
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Respiratory insufficiency	ORPHA:147
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea	OMIM:250900
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria	OMIM:605899
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Gracile Syndrome	Aminoaciduria	OMIM:603358
Valinemia	Valinuria	OMIM:277100
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Pallor	ORPHA:79283
Galactosemia Iii	Aminoaciduria, Galactosuria	OMIM:230350
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure, Lethargy	OMIM:619386
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Abnormal pattern of respiration	ORPHA:833
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Hypertryptophanemia	Depression, Tryptophanuria	OMIM:600627
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Aminoaciduria, Proximal tubulopathy	OMIM:612075
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Lethargy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in ...	ORPHA:26792
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Decreased DLCO, Emphysema...	OMIM:618913
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Argininemia	Diaminoaciduria	ORPHA:90
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Respiratory insufficiency, La...	OMIM:605711
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Lethal Infantile Mitochondrial Myopathy	Lethargy, Neonatal respiratory distress, Renal insufficiency	ORPHA:254857
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Glutathionuria	Asthma, Urinary incontinence, Glutathionuria	OMIM:231950
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Respiratory insufficiency due to muscle weakness, Aminoaciduria	OMIM:609560
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, 2-ethylhydracylic aciduria	OMIM:610006
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Pallor	OMIM:613561
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria	OMIM:250620
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:236270
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Benign Paroxysmal Torticollis Of Infancy	Apathy, Pallor	ORPHA:71518
Lipoyltransferase 1 Deficiency	Alaninuria, Pulmonary arterial hypertension, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Evans Syndrome	Epistaxis, Dyspnea, Pallor, Lethargy, Petechiae	ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Respiratory insufficiency	OMIM:618224
Isovaleric Acidemia	Lethargy, Hyperglycinuria	OMIM:243500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria	OMIM:274270
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta...	OMIM:619468
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Renal dysplasia, Elevated circulating creatinine concentration, Abnormal re...	OMIM:616733
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast...	OMIM:613388
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Acute Myelomonocytic Leukemia	Dyspnea, Pallor	ORPHA:517
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Renal insufficiency, Respiratory insufficiency	ORPHA:28
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	OMIM:237310
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation	OMIM:618232
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea, Methylmalonic aciduria, Pulmonary arterial hypertension, Lethargy, Homocystinuria	OMIM:614857
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Redundant neck skin	OMIM:610498
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ...	OMIM:246450
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Apathy, Respiratory distress, Depression	ORPHA:240085
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Dyspnea, Hematuria, Decreased serum creatinine, Acute kidney in...	ORPHA:54057
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Renal tubular d...	ORPHA:436271
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Apnea, Elevated urinary 3-methylcrotonylglycine level, Lethargy, 3-hydroxyisovaleric a...	OMIM:210200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Netherton Syndrome	Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Dry skin, Hydronephrosis	ORPHA:634
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Propionic Acidemia	Increased level of hippuric acid in urine, Apnea, Tachypnea, Hyperglycinuria, Lethargy	OMIM:606054
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level	OMIM:272300
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Depression, Prolinuria, H...	ORPHA:79101
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Lethargy	ORPHA:71277
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Lethargy, Renal tubular dysfunction, Renal insufficiency	ORPHA:289916
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Glutaric Acidemia Type 3	Lethargy, Glutaric aciduria, Ketonuria	ORPHA:35706
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Respiratory failure, Respiratory insufficiency	OMIM:615330
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Holocarboxylase Synthetase Deficiency	Respiratory distress, Lethargy, Tachypnea, Organic aciduria	ORPHA:79242
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Dyspnea, Tachypnea, Hypercalciuria, Aminoaciduria	OMIM:239200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis, Pallor, Lethargy	OMIM:611590
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary nephrocalcinosis	OMIM:143880
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Pallor	ORPHA:276608
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Apnea, Respiratory insufficiency	OMIM:618228
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea, Lacticaciduria, Elevated urine acet...	OMIM:615751
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Apnea	OMIM:618225
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Homocitrullinuria	OMIM:238970
Optic Atrophy 1	Pallor	OMIM:165500
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Dihydropyrimidinase Deficiency	Lethargy, Uraciluria	OMIM:222748
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Pallor, Exertional dyspnea	ORPHA:90037
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Tachypnea, Organic aciduria, Lethargy, 3-hydroxyi...	OMIM:253270
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Thyroid Dyshormonogenesis 1	Lethargy, Dry skin	OMIM:274400
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Cyclic Vomiting Syndrome	Lethargy, Pallor	OMIM:500007
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:277410
Stuve-Wiedemann Syndrome 2	Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death	OMIM:619751
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Methylmalonic aciduria, Elevated urinary ...	OMIM:614105
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Respiratory insufficiency due to muscle weakness, Aminoaciduria, Methylmalonic aciduria	OMIM:612073
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Pallor	ORPHA:49827
Succinic Acidemia	Respiratory distress	OMIM:600335
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Lethargy, Renal insufficiency	ORPHA:79312
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst,...	ORPHA:97362
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Apnea, Respiratory insufficiency	OMIM:618226
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Redundant neck skin, Lacti...	OMIM:619003
Breath-Holding Spells	Pallor	OMIM:607578
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis	OMIM:263000
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Respiratory distress, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic ac...	OMIM:617156
Severe Canavan Disease	Lethargy	ORPHA:314911
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Perching Syndrome	Respiratory distress	OMIM:617055
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine con...	OMIM:274150
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Lethargy, Dicarboxylic aciduria, Exertional dyspnea	ORPHA:42
Pontocerebellar Hypoplasia, Type 6	Lethargy, Apnea	OMIM:611523
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Ketonuria, Glycosuria	ORPHA:2089
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent...	ORPHA:411634
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Neonatal respiratory distress, Renal insufficiency, Apnea,...	OMIM:608836
Central Diabetes Insipidus	Lethargy, Nocturia, Depression	ORPHA:178029
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Pallor, Exertional dyspnea	ORPHA:90036
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Lethargy	OMIM:614299
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Respiratory failure, S...	OMIM:614922
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Elevate...	ORPHA:90060
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallo...	ORPHA:99931
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Pallor	ORPHA:276556
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Carnitine Deficiency, Systemic Primary	Respiratory distress, Lethargy, Dicarboxylic aciduria	OMIM:212140
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria, Respiratory arrest, Tachypnea, Lethargy	OMIM:201475
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Hypouricemia, Renal, 1	Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tubular epithelia...	OMIM:220150
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial ...	OMIM:251000
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia...	ORPHA:18
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria	OMIM:618120
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Pallor	ORPHA:276575
D-Glyceric Aciduria	Neonatal respiratory distress, Aminoaciduria, Micropenis	OMIM:220120
Isolated Atp Synthase Deficiency	Respiratory distress, Lethargy, 3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn...	ORPHA:348
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Pallor	ORPHA:276580
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Childhood Absence Epilepsy	Hyperventilation, Urinary incontinence, Pallor, Depression	ORPHA:64280
Scrub Typhus	Renal insufficiency, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy	ORPHA:83317
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid...	OMIM:251100
Multifocal Atrial Tachycardia	Dyspnea, Lethargy, Tachypnea	ORPHA:3282
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Pallor	ORPHA:324575
Tay-Sachs Disease	Aspiration, Apathy, Pallor	OMIM:272800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor...	OMIM:208085
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias	OMIM:300934
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Renal Fanconi syndrome, Pallor, Glycosuria, Lethargy	ORPHA:263455
Hemoglobin D Disease	Pallor	ORPHA:90039
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy	OMIM:246900
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Generalized aminoaciduria, B...	ORPHA:3337
Fanconi-Bickel Syndrome	Hyperphosphaturia, Generalized aminoaciduria, Hypercalciuria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Argininosuccinic Aciduria	Lethargy, Aminoaciduria, Oroticaciduria	OMIM:207900
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Renal insufficiency, Respiratory insufficiency	ORPHA:27
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Hawkinsinuria	Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Interstitial Lung And Liver Disease	Dyspnea, Respiratory insufficiency, Hypoxemia, Aminoaciduria, Cough	OMIM:615486
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Respiratory insufficiency, Abnormal renal corticomedullary d...	OMIM:617397
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Apnea, Polycystic kidney dysplasia	OMIM:214110
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Ketonuria, Methylmalonic aciduria	OMIM:251110
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal tubul...	OMIM:227810
Meningococcal Meningitis	Neonatal respiratory distress, Renal insufficiency, Lethargy, Petechiae, Purpura	ORPHA:33475
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Pulmonary arterial hypertension	OMIM:619064
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Pallor, Exertional dyspnea	ORPHA:90033
Pyruvate Dehydrogenase Deficiency	Dyspnea, Lethargy, Tachypnea	ORPHA:765
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Lethargy, Inspiratory stridor, Irregular respiration	OMIM:604377
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Lethargy	ORPHA:2394
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pulmonary arterial hypertensi...	OMIM:620233
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Methylmalonic aciduria, Homocystinuria, Lethargy	OMIM:277380
Molybdenum Cofactor Deficiency, Complementation Group C	Neonatal death, Increased urinary taurine	OMIM:615501
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ...	OMIM:606812
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Respiratory arrest	OMIM:600649
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hypernatriuria, Hyposthenuria	OMIM:300539
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Homocystinuria, Apnea	ORPHA:395
Retinitis Pigmentosa 51	Pallor, Abnormality of the kidney	OMIM:613464
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	ORPHA:927
Citrullinemia Type I	Lethargy, Tachypnea	ORPHA:247525
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Respiratory insufficiency, Cutis laxa, Aminoaciduria, Hyperlysinu...	OMIM:222700
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Respiratory distress	ORPHA:240103
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Lethargy, Dicarboxylic aciduria	OMIM:255120
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Oliguria, Respiratory insufficiency, Lethargy	ORPHA:159
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Beta-Thalassemia	Skin ulcer, Pallor, Respiratory insufficiency	ORPHA:848
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Typhoid	Lethargy, Epistaxis, Cough	ORPHA:99745
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Leigh Syndrome	Lacticaciduria, Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular dysfunction, Ren...	ORPHA:506
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Homocystinuria, Depression	OMIM:236200
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Apnea, Tachypnea, 3-Methylglutaric aciduria, Apathy, Pallor, Lethargy	ORPHA:20
Dengue Fever	Lethargy, Petechiae, Epistaxis, Cardiorespiratory arrest	ORPHA:99828
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Upper airway obstruction	ORPHA:100057
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Respiratory failure, Tachypnea	OMIM:615838
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Mac...	ORPHA:79233
Beta-Ketothiolase Deficiency	Ketonuria, Tachypnea, Apathy, Pallor, Cough	ORPHA:134
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Congenital Heart Block	Pleural effusion, Pallor, Crackles	ORPHA:60041
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria	OMIM:245050
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy	OMIM:617105
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Redundant neck skin, Hypospadias, Aminoaciduria, Albuminuria, Rena...	OMIM:214100
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Cholera	Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Letharg...	ORPHA:173
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Rheumatic Fever	Sinusitis, Epistaxis, Erythema, Respiratory insufficiency, Nephrotic syndrome, Pallor	ORPHA:3099
Biotinidase Deficiency	Lethargy, Tachypnea, Apnea, Organic aciduria	OMIM:253260
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
Cold Agglutinin Disease	Abnormal urinary color, Pallor	ORPHA:56425
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Respiratory failure, Myoglobinuria, Respiratory insufficiency	OMIM:609015
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Dravet Syndrome	Bradykinesia, Pallor	ORPHA:33069
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, O...	ORPHA:90051
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Dicarboxylic aciduria, Cardiorespiratory arrest	OMIM:212138
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria, Dry skin, Petechiae	OMIM:609242
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Pallor, Depression	ORPHA:13
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine	OMIM:248600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Aminoaciduria	OMIM:619055
American Trypanosomiasis	Dyspnea, Pallor, Cough	ORPHA:3386
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Lethargy	ORPHA:156
Leishmaniasis	Rhinitis, Pallor, Skin ulcer	ORPHA:507
Biotinidase Deficiency	Respiratory distress, Apnea, Organic aciduria, Lethargy, Hyperventilation	ORPHA:79241
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress	OMIM:616974
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Cirrhosis, Familial	Lethargy, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress	OMIM:615042
Classic Galactosemia	Lethargy, Depression	ORPHA:79239
Bacterial Toxic-Shock Syndrome	Respiratory distress, Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Pneumon...	ORPHA:36234
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Macroscopic hematuri...	ORPHA:93126
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Generalized aminoaciduria, Stage 5...	OMIM:219800
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Aregenerative Anemia	Dyspnea, Pallor, Depression	ORPHA:101096
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Lethargy, Pneumothorax, Glandular hypospadias	OMIM:620306
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypospadias, Recurrent pneumonia, Lethargy, Micropenis	OMIM:607143
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoaciduria, Neonat...	OMIM:124000
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria	OMIM:264700
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Respiratory insufficiency, Tubulointe...	ORPHA:470
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Pallor	ORPHA:3226
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Tetanus	Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr...	ORPHA:3299
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Hypospadias, Glandular hypospadias, Neonatal death, Micropenis, Penile hypo...	OMIM:300219
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Redundant skin, Urinary incontinence, Respiratory failure, P...	OMIM:616482
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopic hematuri...	OMIM:233450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Tachypnea, Lethargy	ORPHA:26793
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Restrictive ventilatory defect, Pallor	OMIM:600462
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Letterer-Siwe Disease	Dyspnea, Pallor	OMIM:246400
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Dry skin, Depression	ORPHA:99832
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level	OMIM:239000
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Pallor, Vesicoureteral reflux	OMIM:609053
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Lethargy, Glomerulopathy	ORPHA:2169
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Lacticaciduria	OMIM:615595
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Hypercalciuria, Proteinuria, Proximal renal tubular acidosis...	ORPHA:534
Familial Hypoaldosteronism	Decreased urinary potassium, Lethargy, Proximal renal tubular acidosis, Renal salt wasting	ORPHA:427
Pearson Marrow-Pancreas Syndrome	Erythema, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic acid...	OMIM:557000
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Myelofibrosis	Pallor, Purpura	OMIM:254450
Ogden Syndrome	Lethargy, Cutis laxa	ORPHA:276432
Irida Syndrome	Pallor	ORPHA:209981
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level	OMIM:620089
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis	OMIM:615597
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury	ORPHA:330021
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Ebola Hemorrhagic Fever	Dyspnea, Lethargy, Cough	ORPHA:319218
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e...	ORPHA:91500
Encephalitis Lethargica	Lethargy, Urinary incontinence, Hyperventilation	ORPHA:83600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Dry skin	ORPHA:226313
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Hyperlysinemia	Argininuria, Recurrent pneumonia, Cystinuria, Decreased urine alpha-ketoglutarate concentration, ...	ORPHA:2203
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Necrotizing Enterocolitis	Lethargy, Apnea	ORPHA:391673
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Apnea, Cardiorespiratory arrest	OMIM:608643
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria	OMIM:201470
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria	ORPHA:289157
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Waldenström Macroglobulinemia	Renal insufficiency, Epistaxis, Respiratory insufficiency, Pallor, Pleural effusion, Purpura	ORPHA:33226
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria	OMIM:251880
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Insulinoma	Lethargy	ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Aciduria	OMIM:617950
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Proximal tubulopathy, Pallor, Skin ulcer	ORPHA:231222
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy	OMIM:237300
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Apathy, Neonatal death, Petechiae, Purpura	OMIM:608013
Xeroderma Pigmentosum	Aminoaciduria, Dry skin, Erythema	ORPHA:910
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Oromandibular Dystonia	Respiratory distress, Depression	ORPHA:93958
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Transcobalamin Ii Deficiency	Lethargy, Methylmalonic aciduria	OMIM:275350
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Respiratory insufficiency, Depression, Bradykinesia, Lethargy, Noctur...	ORPHA:254892
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Apnea, Hypospadias, Lacticaciduria, Respiratory insufficiency, Re...	OMIM:252010
Myopathy, Mitochondrial, And Ataxia	Pallor, Depression	OMIM:617675
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Respiratory failure, Respiratory insufficiency	ORPHA:746
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Pulmonary embolism, Dyspnea, Chronic kidney di...	ORPHA:447
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Esophageal Atresia	Respiratory distress, Renal agenesis, Episodic respiratory distress, Chronic pulmonary obstructio...	ORPHA:1199
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Pallor	OMIM:194380
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Respiratory insufficiency, Horseshoe...	OMIM:608022
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Histiocytoid Cardiomyopathy	Tachypnea, Renal cyst, Pallor, Cough, Lethargy	ORPHA:137675
Odontochondrodysplasia 1	Respiratory distress, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Micropenis, Redundant neck skin	ORPHA:2519
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Citrullinemia Type Ii	Lethargy, Mania, Enuresis	ORPHA:247585
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Pallor	OMIM:300908
Citrullinemia, Classic	Lethargy, Oroticaciduria	OMIM:215700
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Cutis laxa, Palmoplantar cutis laxa, Pulmonary arterial hypertensi...	ORPHA:363705
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pallor	ORPHA:90045
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Erythema	OMIM:618321
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glome...	OMIM:617303
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Moebius Syndrome	Respiratory distress, Micropenis	OMIM:157900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias	OMIM:619272
Cocaine Intoxication	Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Hematur...	ORPHA:90068
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Oroticaciduria, Tachypnea	ORPHA:415
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy	ORPHA:465508
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Isolated Complex I Deficiency	Lethargy, Proximal tubulopathy, Respiratory insufficiency	ORPHA:2609
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Imerslund-Gräsbeck Syndrome	Proteinuria, Pallor	ORPHA:35858
Refractory Anemia With Excess Blasts	Anemic pallor, Exertional dyspnea	ORPHA:86839
Dominant Beta-Thalassemia	Dyspnea, Pallor, Skin ulcer	ORPHA:231226
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Oliguria, Rhinitis, Ecc...	ORPHA:319213
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Oroticaciduria	OMIM:311250
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Elliptocytosis 1	Pallor	OMIM:611804
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Oliguria, Hypocapnia, Lethargy, Dry skin, Acute kidney injury	ORPHA:466650
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Hypospadias, Tracheomal...	OMIM:217980
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Dyspnea, Oliguria, Pleural empyema, Pallor, Acute kidney injury, Nephrotic ran...	ORPHA:544482
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Pallor	ORPHA:2131
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Dry skin, Depression	ORPHA:90674
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Toxic Epidermal Necrolysis	Respiratory distress, Renal insufficiency, Dysuria, Abnormality of the urethra, Erythema, Skin ul...	ORPHA:537
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Stridor, Nephrotic syndrom...	ORPHA:505248
Adenohypophysitis	Hyposthenuria, Pallor	ORPHA:95512
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Late-Onset Isolated Acth Deficiency	Lethargy, Dry skin	ORPHA:199299
Panhypophysitis	Hyposthenuria, Pallor	ORPHA:95513
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Nephrolithiasis, Hyp...	ORPHA:653
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Redundant neck skin	ORPHA:3309
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Marburg Hemorrhagic Fever	Renal insufficiency, Nonproductive cough, Elevated circulating creatinine concentration, Lethargy...	ORPHA:99826
Beta-Thalassemia Major	Dyspnea, Pallor, Skin ulcer	ORPHA:231214
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hypospadias, Asthma, Recurrent pneumonia, Me...	ORPHA:209905
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Micropenis	ORPHA:398079
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Renal cyst, Polycystic kidney dysplasia, Lethargy, Renal cortical microcysts	OMIM:614866
Hereditary Fructose Intolerance	Lethargy, Renal insufficiency, Chronic kidney disease	ORPHA:469
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Pneumonia, Hyperechogenic kidneys, Aminoaciduria...	OMIM:619991
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, 3-Methylglutaconic aciduria, Recurrent pneumonia	OMIM:616271
Sheehan Syndrome	Hyposthenuria, Dry skin, Pallor	ORPHA:91355
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pallor, Cough, Pleural effusion	ORPHA:3260
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Skin ulcer, Intrarenal abscess, Lethargy	ORPHA:68
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Multicystic kidney dysplasia, Recurrent urinary tract i...	ORPHA:79404
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Renal insufficiency, Proteinuria, Erythema, ...	OMIM:614748
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Magel2-Related Prader-Willi-Like Syndrome	Lethargy, Micropenis	ORPHA:398069
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Lethargy, Dry skin	OMIM:218700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Fetal pyelectasis	ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis	ORPHA:990
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Neonatal respiratory distress, Ketonuria, Renal hypoplasia	OMIM:619053
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria	ORPHA:404454
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Et...	ORPHA:17
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Ketonuria, Lacticaciduria, Aspiration pneumonia	OMIM:619167
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ...	OMIM:618733
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Q Fever	Respiratory distress, Pneumonia, Hematuria, Cough, Pleural effusion, Purpura	ORPHA:781
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Apnea, Renal steatosis	OMIM:261680
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Semilobar Holoprosencephaly	Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio...	ORPHA:93924
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Ethylene Glycol Poisoning	Renal insufficiency, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, R...	ORPHA:31826
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Redundant neck skin, Hypospadias, Palmoplantar cutis laxa	OMIM:123790
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r...	OMIM:619488
Arterial Tortuosity Syndrome	Respiratory distress, Redundant skin, Dyspnea, Cardiorespiratory arrest, Respiratory failure	ORPHA:3342
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Dyspnea, Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria	OMIM:251900
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Respiratory insufficiency, Restric...	ORPHA:536467
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Chronic lung disease	OMIM:613848
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Trichinellosis	Lethargy, Apathy	ORPHA:863
Pituitary Apoplexy	Pallor	ORPHA:95613
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Anemic pallor, Renal agenesis, Ectopic kidney, Abnormal renal morph...	OMIM:227650
Medulloblastoma	Lethargy	ORPHA:616
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Diamond-Blackfan Anemia	Renal agenesis, Hypospadias, Horseshoe kidney, Pallor, Lethargy	ORPHA:124
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Resp...	OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal penis morpholo...	ORPHA:95455
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Horseshoe kidney	OMIM:600901
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Multiple glomerular cysts, Apnea, Dyspnea, Episodic respiratory...	ORPHA:255210
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Apnea	ORPHA:79644
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest	ORPHA:31824
Glycerol Kinase Deficiency	Lethargy, Increased urinary glycerol	OMIM:307030
Prolactinoma	Pallor	ORPHA:2965
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Increased pulmonary vascular resistance, Wheezing, Hyp...	ORPHA:97214
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Renal dysplasia, Hydronephrosis	OMIM:300968
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Rodrigues Blindness	Nasal flaring	OMIM:268320
Diamond-Blackfan Anemia 10	Respiratory distress, Renal duplication, Ectopic kidney	OMIM:613309
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy, Urinary incontinence	ORPHA:306674
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Apnea, Pallor, Chronic rhinitis	ORPHA:667
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Pneumonia, Tubulointerstitial nephritis, Interstitial pneumonitis, Nephroti...	ORPHA:37042
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, Chondroiti...	OMIM:615273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Shwachman-Diamond Syndrome 1	Respiratory distress, Nephrocalcinosis, Neonatal respiratory distress	OMIM:260400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Gitelman Syndrome	Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointer...	ORPHA:358
Von Hippel-Lindau Disease	Renal cell carcinoma, Multiple renal cysts, Pallor, Elevated urinary catecholamine level	ORPHA:892
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Horseshoe kidney	OMIM:227645
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Anemic pallor, Renal agenesis, Ectopic kidney, Horseshoe kidney, Mi...	OMIM:227646
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Achondroplasia	Respiratory distress, Upper airway obstruction	OMIM:100800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Respiratory failure, Chylothorax	OMIM:620278
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Hydronephrosis	ORPHA:210122
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Congenital Tracheal Stenosis	Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Wheezing, Dyspnea, Abnormalit...	ORPHA:141127
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Periorbital wrinkles, Dry skin	OMIM:305100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea	OMIM:618426
Coccidioidomycosis	Respiratory distress, Renal insufficiency, Pneumonia, Abnormality of the kidney, Abnormality of t...	ORPHA:228123
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Dyspnea, Epispadias, Respiratory failure	ORPHA:2554
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Abnormality of the kidney	ORPHA:177907
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent urinary tract infections, Urinary incontinence	ORPHA:404448
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Enlarged kidney	OMIM:261740
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Acral ulceration	OMIM:256810
Multiple Endocrine Neoplasia Type 1	Lethargy, Nephrolithiasis, Hypercalciuria, Depression	ORPHA:652
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Hydranencephaly	Lethargy	ORPHA:2177
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Stridor, Tracheomalacia,...	OMIM:114290
Listeriosis	Respiratory distress, Pneumonia, Pyelonephritis, Respiratory failure, Acute kidney injury	ORPHA:533
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal penis morphology, Hypospadias, Dyspnea, Epispadias, Erythema, Resp...	ORPHA:2556
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Micropenis	OMIM:224690
Glutaric Acidemia I	Glutaric aciduria, Ketonuria	OMIM:231670
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Diamond-Blackfan Anemia 1	Pallor, Renal hypoplasia	OMIM:105650
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy	ORPHA:226307
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Recurrent urinary tract infections, Recurren...	OMIM:616268
Schinzel-Giedion Syndrome	Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi...	ORPHA:798
Osteoglophonic Dysplasia	Respiratory distress, Chordee, Hypospadias	OMIM:166250
Plague	Respiratory distress, Skin ulcer, Depression, Acute infectious pneumonia, Dry skin	ORPHA:707
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Increased urinary glycerol, Ketonuria	ORPHA:247598
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring	ORPHA:466943
Pineoblastoma	Lethargy	ORPHA:251909
Aspartylglucosaminuria	Aspartylglucosaminuria	ORPHA:93
Aspartylglucosaminuria	Aspartylglucosaminuria	OMIM:208400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria	OMIM:615453
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Scorpion Envenomation	Ketonuria, Erythema, Tachypnea, Glycosuria, Abnormal nasal mucus secretion, Acute kidney injury, ...	ORPHA:466677
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Enlarged kidney, Renal agenesis, Horseshoe kidney	OMIM:306955
Leptospirosis	Respiratory distress, Cellular urinary casts, Cough, Pleural effusion, Acute kidney injury	ORPHA:509
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hypospadias, Hydronephrosis	OMIM:180849
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
8Q24.3 Microdeletion Syndrome	Respiratory distress, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypop...	ORPHA:508488
Doors Syndrome	Respiratory distress, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnorm...	ORPHA:79500
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Micropenis, Hydronephrosis	ORPHA:83617
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria	ORPHA:480864
Ulbright-Hodes Syndrome	Respiratory distress, Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Respiratory fail...	ORPHA:3404
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Horseshoe kidney	OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduri...	ORPHA:99646
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication	ORPHA:2255
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Nephrocalcinosis, Cortical nephrocalcinosis, Pulmonary a...	ORPHA:51608
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Renal dysplasia, Hydronephrosis	ORPHA:480880
Alström Syndrome	Respiratory distress, Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter ...	ORPHA:64
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Tachypnea, Hypospadias, Ketonuria	OMIM:220111
Pmm2-Cdg	Respiratory distress, Proteinuria, Nephrotic syndrome, Multiple renal cysts, Aspiration pneumonia...	ORPHA:79318

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 Dbt

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 Dbt.

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

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
Dbt^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Dbt^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dbt^{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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