Gene: Slc4a4 MGI:1927555

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 4 (anion exchanger), member 4

Synonyms:

NBC1, NBC

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 Slc4a4 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 Slc4a4 (1 diseases)
Human diseases predicted to be associated with Slc4a4 (2462 diseases)

The table below shows human diseases associated to Slc4a4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation		Hypokalemia, Band keratopathy, Short stature, Metabolic acidosis, Proximal renal tubular acidosis...	OMIM:604278

The table below shows human diseases predicted to be associated to Slc4a4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Tiglic Acidemia	Acidosis	OMIM:275190
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Metabolic acidosis, Increased serum lactate	OMIM:615158
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hyperchloremic metabolic acidosis, Decreased mean corpuscular volume, Hypokalemia, Short stature,...	OMIM:611590
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit...	ORPHA:85450
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Hypokalemia, Band keratopathy, Short stature, Metabolic acidosis, Proximal renal tubular acidosis...	OMIM:604278
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Hyperactive renin-angiotensin system, Metabolic acidosis, Dehydration, Diarrhea, Vomiting, Hypera...	OMIM:264350
Hypophosphatasia, Infantile	Bowing of the legs, Stillbirth, Metaphyseal cupping, Constipation, Disproportionate short-limb sh...	OMIM:241500
Renal Tubular Acidosis, Proximal	Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis	OMIM:179830
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Hyperprolinemia, Lacticaciduria, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory...	OMIM:615751
Burkitt Lymphoma	Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan...	ORPHA:543
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Metabolic acidosis, Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acid...	OMIM:602722
Succinic Acidemia	Lactic acidosis	OMIM:600335
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Polyuria, Leukop...	OMIM:613845
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis	OMIM:615453
Mitochondrial Complex I Deficiency, Nuclear Type 32	Metabolic acidosis, Increased serum lactate	OMIM:618252
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine	ORPHA:391457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad...	ORPHA:264580
Fanconi-Bickel Syndrome	Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Increased hepatic glycogen ...	ORPHA:2088
Glomerulopathy With Fibronectin Deposits 1	Acidosis, Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobu...	OMIM:137950
Acute Adrenal Insufficiency	Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ...	ORPHA:95409
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Familial Hypoaldosteronism	Adrenal insufficiency, Decreased circulating aldosterone level, Metabolic acidosis, Proximal rena...	ORPHA:427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Skeletal muscle atrophy, Renal tubular ...	ORPHA:79240
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrop...	OMIM:208085
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes...	OMIM:614732
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Orthostatic hypotension, Dehydration, Elevated serum 11-...	ORPHA:556030
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepa...	OMIM:613404
Thrombotic Thrombocytopenic Purpura	Diarrhea, Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Renal insuffi...	ORPHA:54057
Addison Disease	Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, H...	ORPHA:85138
Bartter Syndrome, Type 1, Antenatal	Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular...	OMIM:601678
Lysosomal Acid Lipase Deficiency	Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Esophageal varix, Weight loss, Jaundice, Feedin...	ORPHA:275761
Dent Disease 1	Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas...	OMIM:300009
East Syndrome	Hypomagnesemia, Hypokalemia, Metabolic alkalosis, Increased circulating renin level, Renal magnes...	ORPHA:199343
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad...	ORPHA:370
Corticosterone Methyloxidase Type I Deficiency	Decreased circulating aldosterone level, Dehydration, Vomiting, Increased circulating renin level...	OMIM:203400
Leigh Syndrome With Nephrotic Syndrome	Nephrotic syndrome, Renal tubular acidosis, Increased serum lactate, Episodic vomiting, Cardiomeg...	ORPHA:255249
Juvenile Nephropathic Cystinosis	Metabolic acidosis, Glycosuria, Vomiting, Corneal crystals, Elevated circulating creatinine conce...	ORPHA:411634
Pseudomyxoma Peritonei	Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,...	ORPHA:26790
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Decreased body weight, Hyperbilirubine...	ORPHA:1667
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Orthostatic hypotension, Dehydration, Increased circulat...	OMIM:610600
Hypophosphatemic Rickets, X-Linked Recessive	Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,...	OMIM:300554
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Acidosis, Increased circulating renin level, Renal salt wasting	OMIM:619406
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol...	ORPHA:556037
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Metaboli...	OMIM:557000
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Renal ...	ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 55	High palate, Constipation, Stage 3 chronic kidney disease, Proximal tubulopathy, Skeletal muscle ...	OMIM:619743
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy...	OMIM:601198
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Metabolic acidosis, Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, ...	OMIM:614723
Mirage Syndrome	Adrenal insufficiency, Decreased body weight, Lymphopenia, Gastroesophageal reflux, Petechiae, Sh...	OMIM:617053
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Episodic ketoacidosis, Lactic acidosis, Aminoaciduria	OMIM:236795
Bartter Syndrome, Type 3	Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Dehydra...	OMIM:607364
Porphyria Due To Ala Dehydratase Deficiency	Constipation, Abdominal distention, Abdominal pain, Myeloproliferative disorder, Increased erythr...	ORPHA:100924
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Abnormal abdomen morphology, Renal tubular dysfunction, Hypophosphatemic...	OMIM:241530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,...	OMIM:308990
Dent Disease	Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Cataract, Prote...	ORPHA:1652
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Renal agenesis, Short stature, Short femo...	OMIM:618440
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Failure to thrive, Feeding difficulties, Metabolic acidosis...	OMIM:177735
Shigellosis	Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Abscess, Vomiting, Cholest...	ORPHA:810
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Metabolic acidosis, Hypovolemic shock, Dehydration, Glucoc...	ORPHA:171876
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased serum lactate, Hyperalaninemia, Stage 5 chronic kidney disease	OMIM:618250
Hirschsprung Disease	Constipation, Aganglionic megacolon, Abdominal pain, Short stature, Diarrhea, Intestinal obstruct...	ORPHA:388
Kearns-Sayre Syndrome	Hypoparathyroidism, Renal tubular acidosis, Short stature, Arrhythmia, Lactic acidosis, Renal Fan...	OMIM:530000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Failure to thrive, High palate, Hypochromic anemia,...	OMIM:600462
Rhabdoid Tumor	Neoplasm of the liver, Renal neoplasm, Hematuria, Thrombocytopenia, Hypercalcemia, Internal hemor...	ORPHA:69077
Distal Renal Tubular Acidosis	Constipation, Decreased glomerular filtration rate, Diarrhea, Vomiting, Decreased serum bicarbona...	ORPHA:18
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum lactate, Proximal renal tubular acidosis, Increased serum pyruvate,...	OMIM:266150
Cystinosis, Nephropathic	Exocrine pancreatic insufficiency, Hepatomegaly, Metabolic acidosis, Glycosuria, Hematuria, Corne...	OMIM:219800
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Diarrhea, Elevated circulating creatine kin...	OMIM:255120
Wolman Disease	Adrenal insufficiency, Abdominal distention, Hepatomegaly, Splenomegaly, Hepatic failure, Steator...	ORPHA:75233
Gitelman Syndrome	Hypomagnesemia, Hypokalemia, Constipation, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Noctur...	OMIM:263800
Gracile Syndrome	Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Chronic la...	OMIM:603358
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Hypokalemic alkalosis, Vomiting, Increased circula...	OMIM:241150
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome...	OMIM:618892
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Vomiting, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Nephrocalci...	OMIM:239199
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate	OMIM:614055
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Weight loss, Ga...	ORPHA:298
Galactosemia I	Hyperchloremic metabolic acidosis, Increased level of galactitol in urine, Decreased liver functi...	OMIM:230400
Wilson Disease	Hepatomegaly, Glycosuria, Vomiting, Pedal edema, Esophageal varix, Proteinuria, Limb muscle weakn...	OMIM:277900
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate	OMIM:618855
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Hypokalemic metabolic alkalo...	OMIM:612780
Proximal Renal Tubular Acidosis	Band keratopathy, Mild postnatal growth retardation, Hyperuricosuria, Diarrhea, Glycosuria, Vomit...	ORPHA:47159
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Elevated lactate:pyruvate ratio, Steatorrhea, Co...	ORPHA:699
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Renal insufficiency, Proteinuria, Hypercalcemia, Glomerulopathy, Hyperparathyroidism, ...	ORPHA:2668
Dent Disease 2	Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea...	OMIM:300555
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc...	OMIM:613673
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate	OMIM:615395
Peutz-Jeghers Syndrome	Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin...	ORPHA:2869
Glucagonoma	Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ...	ORPHA:97280
Bartter Syndrome, Type 2, Antenatal	Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular...	OMIM:241200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc...	ORPHA:289548
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int...	OMIM:243150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Renal tubular acidosis, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Increased serum lac...	OMIM:615471
Hyperparathyroidism, Neonatal Severe	Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Constipation, Splenomega...	OMIM:239200
Hereditary Coproporphyria	Dark urine, Abdominal pain, Small intestinal dysmotility, Increased urinary porphobilinogen, Neph...	ORPHA:79273
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Increased serum lactate, Lactic acidosis	OMIM:616111
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc...	ORPHA:168558
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti...	OMIM:602522
Gitelman Syndrome	Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri...	ORPHA:358
Familial Hyperaldosteronism Type Iii	Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxi...	ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Hepatomegaly, Increased serum lactate, Renal dysplasia, Renal cyst, Renal...	OMIM:614922
Bartter Syndrome Type 4	Hyperactive renin-angiotensin system, Impaired renal concentrating ability, Hyperprostaglandinuri...	ORPHA:89938
Late-Onset Isolated Acth Deficiency	Graves disease, Constipation, Decreased circulating cortisol level, Diarrhea, Macrocytic anemia, ...	ORPHA:199299
Porphyria Variegata	Ileus, Chronic kidney disease, Constipation, Inappropriate antidiuretic hormone secretion, Abdomi...	ORPHA:79473
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypop...	ORPHA:157215
Castleman Disease	Decreased mean corpuscular volume, Abdominal distention, Elevated circulating C-reactive protein ...	ORPHA:160
Somatostatinoma	Medullary thyroid carcinoma, Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Dia...	ORPHA:97283
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Proteinuria	OMIM:614652
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Proximal tu...	OMIM:612075
Necrotizing Enterocolitis	Bloody diarrhea, Acidosis, Abdominal distention, Leukocytosis, Small for gestational age, Metabol...	ORPHA:391673
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Polyhyd...	OMIM:613090
Alg8-Cdg	Failure to thrive, Feeding difficulties, Small for gestational age, Macroglossia, Cutis laxa, Dia...	ORPHA:79325
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Aphthous ulcer, I...	OMIM:266600
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
Riboflavin Deficiency	Metabolic acidosis, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lact...	OMIM:615026
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy	ORPHA:33574
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria,...	ORPHA:2118
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate	OMIM:619062
Say Syndrome	Short distal phalanx of finger, Cleft palate, Short stature, Proximal renal tubular acidosis, Uln...	OMIM:181180
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Short stature, Metabolic acidosis, Osteopenia, Av...	OMIM:611555
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Hepatomegaly, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia,...	ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated urinary 4-hydroxybutyric acid, Hype...	OMIM:619003
Diarrhea 1, Secretory Chloride, Congenital	Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Abdominal distention, Metab...	OMIM:214700
Tyrosinemia, Type I	Melena, Hepatomegaly, Metabolic acidosis, Enlarged kidney, Hypermethioninemia, Gastrointestinal h...	OMIM:276700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis...	ORPHA:766
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ...	ORPHA:99879
Alagille Syndrome 2	Cholestatic liver disease, Renal tubular acidosis, Pulmonic stenosis, Posterior embryotoxon, Hema...	OMIM:610205
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circula...	OMIM:613677
Blue Diaper Syndrome	Decreased circulating T4 concentration, Metabolic acidosis, Diarrhea, Elevated circulating thyroi...	ORPHA:94086
Hypercalcemia, Infantile, 1	Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Dehydration, Vomiting, Hyper...	OMIM:143880
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, In...	OMIM:274150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, ...	ORPHA:369929
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hemoglobinuria, Diarrhea, Vomiting, Schistocytosis, Colonic stenosis, Elevated circ...	ORPHA:90038
Oculocerebrorenal Syndrome Of Lowe	Abnormal calcium-phosphate regulating hormone level, Cheilitis, Constipation, Hypoammonemia, Abno...	ORPHA:534
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Metabolic acidosis, Proximal renal tubular acidosis, Increased serum lacta...	OMIM:615824
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep...	OMIM:616963
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:613388
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Central Diabetes Insipidus	Failure to thrive, Anorexia, Diarrhea, Nocturia, Weight loss, Hyponatremia, Nausea and vomiting, ...	ORPHA:178029
Cronkhite-Canada Syndrome	Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Stomach cancer, Di...	ORPHA:2930
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Pulmonary edema, Abnormal renal tubular res...	ORPHA:73224
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea...	OMIM:156400
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Hepatomegaly, Metabolic acidosis, Left ventricular hypertrophy, Increased ser...	OMIM:617713
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Diarrhea, Erythema, Vomiting, Gingival bleeding,...	ORPHA:449285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Leigh Syndrome	Multiple joint contractures, Cataract, Gastrointestinal dysmotility, Skeletal muscle atrophy, Int...	ORPHA:506
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke...	ORPHA:1802
Hypomagnesemia 3, Renal	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci...	OMIM:248250
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, High palate, Hepatomegaly, Aminoaciduria, Hypertrophic cardiomyopathy,...	OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Hepatomegaly, Aminoaciduria, Hypertrophic cardiomyopathy, Skeletal mus...	ORPHA:436271
Ppoma	Cholelithiasis, Hepatomegaly, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe...	ORPHA:97278
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Metabolic alkalosis, Increased circu...	ORPHA:231625
Grfoma	Cholelithiasis, Hepatomegaly, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe...	ORPHA:97261
Leishmaniasis	Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Anorexia, Pallor, Leukopenia, Abnorm...	ORPHA:507
Infantile Nephropathic Cystinosis	Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Abnormal cornea morphology, Acidosi...	ORPHA:411629
Budd-Chiari Syndrome	Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peri...	ORPHA:131
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Aminoaciduria, Metabolic acidosis, Increased serum lactate, ...	OMIM:619386
Hypervitaminosis A, Susceptibility To	Nausea, Renal insufficiency, Hypercalcemia, Ascites, Abnormality of the liver	OMIM:240150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Abdominal pain, Anorexia, Cachexia, Dia...	OMIM:175500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Metabolic acidosis, Increased serum lactate, Feeding difficulties in infancy, ...	OMIM:610090
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Intestinal obstruction, P...	ORPHA:67
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperammonemia, Metabolic acidosis, Increased serum pyruvate, Increased serum lactate, Elevated c...	OMIM:615160
Hyperinsulinism Due To Hnf4A Deficiency	Metabolic ketoacidosis, Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemi...	ORPHA:263455
Zollinger-Ellison Syndrome	Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort...	ORPHA:913
Osteopetrosis With Renal Tubular Acidosis	High palate, Hepatomegaly, Metabolic acidosis, Pancytopenia, Bone marrow hypocellularity, Nephrol...	ORPHA:2785
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased serum lactate, Lactic acidosis, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Apparent Mineralocorticoid Excess	Intrauterine growth retardation, Decreased circulating aldosterone level, Hypokalemia, Short stat...	ORPHA:320
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Hepatomegaly, Abdominal pain, Hypoproteinemia, Diarrhea, Vomiting, Iron deficiency...	OMIM:226300
Renal Tubular Acidosis, Distal, 1	Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Distal renal tubular acidosis, Elevated...	OMIM:179800
Gaisböck Syndrome	Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,...	ORPHA:90041
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Metabolic acid...	ORPHA:26792
Fanconi Renotubular Syndrome 3	Aminoaciduria, Metabolic acidosis, Glycosuria, Low-molecular-weight proteinuria, Elevated circula...	OMIM:615605
Coproporphyria, Hereditary	Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Increased urinary porphobilinogen, Elev...	OMIM:121300
Legionnaires Disease	Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Diarrhea, Hematuria, Hepatitis...	ORPHA:549
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Hyperlysinemia, Pancreatitis, Renal tubular acidosis, Abnormal circulating carnitine concentratio...	ORPHA:431361
Propionic Acidemia	Neutropenia, Hyperglycinuria, Hepatomegaly, Pancreatitis, Constipation, Metabolic acidosis, Hyper...	OMIM:606054
Dysplastic Cortical Hyperostosis	Hepatomegaly, Increased bone mineral density, Splenomegaly, Short stature, Abnormality of the uri...	ORPHA:2204
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy	ORPHA:52416
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Intrauterine growth retardation, Hepatomegaly, Metabolic acidosis, Left ventricular hypertrophy, ...	OMIM:619048
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ...	ORPHA:90791
Primary Fanconi Renotubular Syndrome	Hyperuricosuria, Glycosuria, Renal sodium wasting, Stage 5 chronic kidney disease, Hypouricemia, ...	ORPHA:3337
Whipple Disease	Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Diarrhea, Mediasti...	ORPHA:3452
Primary Myelofibrosis	Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Anorexia, Hepa...	ORPHA:824
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin ...	ORPHA:447
Hypothyroidism, Congenital, Nongoitrous, 6	Growth delay, Constipation, Macroglossia, Impaired sensitivity to thyroid hormone, Increased body...	OMIM:614450
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	ORPHA:361
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:267700
Andersen-Tawil Syndrome	High palate, Bidirectional ventricular ectopy, Prolonged QT interval, Renal tubular dysfunction, ...	ORPHA:37553
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Medullary Sponge Kidney	Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria	ORPHA:1309
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Metabolic acidosis, Pallor, Vomiting, Or...	OMIM:246450
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Short stature, Macros...	ORPHA:251004
Glycogen Storage Disease Vii	Cholelithiasis, Increased muscle glycogen content, Reduced erythrocyte 2,3-diphosphoglycerate con...	OMIM:232800
Colchicine Poisoning	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormality of acid-ba...	ORPHA:31824
Glycerol Kinase Deficiency	Adrenal insufficiency, Short stature, Metabolic acidosis, Muscular dystrophy, Episodic vomiting, ...	OMIM:307030
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu...	OMIM:613662
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Diarrhea, Abnormal...	ORPHA:231226
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Metabolic acidosis, Elevated circulating palmitoleylcarnitine concentration, Methylmal...	OMIM:251120
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes	ORPHA:33111
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Decreased prealbumin level, Vomiting, Type I diabetes melli...	ORPHA:37042
Hepatocellular Carcinoma	Hepatomegaly, Metabolic alkalosis, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundi...	ORPHA:88673
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Metabolic acidosis, Increased serum pyruvate, Hyperprolinemia, I...	OMIM:619046
Adenohypophysitis	Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu...	ORPHA:95512
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ...	ORPHA:231214
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Rhabdomyolysis, Renal insufficiency, Exercise-induced myoglobinuria, Myopathy, ...	OMIM:300653
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Palpitations, Adrenal hyperplasia,...	ORPHA:231580
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Polyhydramnios, Hyponat...	OMIM:300971
Idiopathic Hypercalciuria	Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria	ORPHA:2197
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis	OMIM:203750
Hawkinsinuria	Metabolic acidosis, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic acid...	OMIM:140350
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu...	ORPHA:189427
Sheehan Syndrome	Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Central diabet...	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Lactic acidosis	OMIM:614096
Sengers Syndrome	Hypertrophic cardiomyopathy, Increased serum lactate, Exercise-induced lactic acidemia, 3-Methylg...	OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis	OMIM:618235
Infantile Myofibromatosis	Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormality of the kidney, Gingival fibromat...	ORPHA:2591
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,...	OMIM:237800
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Intrauterine grow...	ORPHA:53693
Aredyld Syndrome	Narrow mouth, Type II diabetes mellitus, Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, S...	ORPHA:1133
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Ab...	ORPHA:369
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ...	OMIM:619350
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Hyperammonemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Anemia	OMIM:616457
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,...	OMIM:615631
Sialidosis Type 2	Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Short stature, Hydrops fetalis,...	ORPHA:87876
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Increased serum lactate, Proximal muscle weakness in lower limbs, Elevated circula...	OMIM:616209
Panhypophysitis	Decreased circulating cortisol level, Increased circulating prolactin concentration, Central diab...	ORPHA:95513
Cystinosis	Renal tubular dysfunction, Malabsorption, Corneal opacity, Nephrogenic diabetes insipidus, Aminoa...	ORPHA:213
Carcinoma Of Esophagus	Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Abnormal intestine morphology, D...	ORPHA:70482
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ileus, Hepatomegaly, Abdominal distention, Abdominal pain, Cachexia, Me...	ORPHA:83469
Blue Diaper Syndrome	Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con...	OMIM:211000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hyperammonemia, Elevated circulating creatine kinase concentration, Ketoacidosis, 3-Methylglutaco...	OMIM:618120
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytop...	OMIM:304790
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Metabolic acidosis, Diarrhea...	ORPHA:90051
Cholera	Abdominal cramps, Abnormality of renal excretion, Hypokalemia, Hypocalcemia, Abdominal pain, Acid...	ORPHA:173
Infection-Related Hemolytic Uremic Syndrome	Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Decreased urine output, Anuria, Bloody diarrh...	ORPHA:544482
Sanjad-Sakati Syndrome	Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Hypoplasia of penis, Sh...	ORPHA:2323
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:603553
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Rhabdomy...	ORPHA:713
Leigh Syndrome With Cardiomyopathy	Renal tubular acidosis, Abnormal renal tubule morphology, Renal agenesis, Increased serum lactate...	ORPHA:70474
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gin...	ORPHA:517
Hydroxykynureninuria	Renal tubular acidosis, Metabolic acidosis, Tachycardia, Hypotension, Abnormal circulating trypto...	ORPHA:79155
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr...	ORPHA:97289
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Lactic acidosis, Alaninuria	OMIM:202900
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Abdominal pain, Intestinal obstruction, Hy...	ORPHA:449400
Familial Mediterranean Fever	Malabsorption, Nephrotic syndrome, Pancreatitis, Constipation, Abdominal pain, Splenomegaly, Acut...	ORPHA:342
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc...	OMIM:619991
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu...	OMIM:612286
Isolated Glycerol Kinase Deficiency	Short stature, Metabolic acidosis, Elevated circulating creatine kinase concentration, Osteoporos...	ORPHA:408
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Majeed Syndrome	Failure to thrive, Malabsorption, Hepatomegaly, Leukocytosis, Splenomegaly, Congenital hypoplasti...	ORPHA:77297
Acute Intermittent Porphyria	Dark urine, Dysuria, Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar para...	ORPHA:79276
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti...	ORPHA:3202
Hyperimmunoglobulinemia D With Periodic Fever	Growth delay, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Erythema, Intestinal obstructi...	ORPHA:343
Immunodeficiency 18	Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Multiple Endocrine Neoplasia Type 2	Medullary thyroid carcinoma, Constipation, Cervical lymphadenopathy, Elevated circulating parathy...	ORPHA:653
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Increased bone mineral density, Short stature, Osteopenia, Hydroxyprolinemia, ...	OMIM:239000
Combined Oxidative Phosphorylation Deficiency 43	Gastroesophageal reflux, Small for gestational age, Projectile vomiting, Increased serum lactate,...	OMIM:618851
Glycogen Storage Disease Xi	Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra...	OMIM:612933
Mitochondrial Myopathy, Infantile, Transient	Failure to thrive, Hepatomegaly, Feeding difficulties, Macroglossia, Increased serum lactate, Inc...	OMIM:500009
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Pallor, Anisopoikilocytosis, ...	ORPHA:35858
Vici Syndrome	High palate, Renal tubular acidosis, Short stature, Cataract, Ureteral atresia, Cardiomyopathy	ORPHA:1493
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Goiter, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia, Nausea and vomiting, T...	ORPHA:83601
Eosinophilic Granulomatosis With Polyangiitis	Malabsorption, Sinusitis, Gastroesophageal reflux, Abdominal pain, Eosinophilia, Hematuria, Glome...	ORPHA:183
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Oculocerebrodental Syndrome	Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f...	ORPHA:557003
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Acute Peripheral Arterial Occlusion	Pallor, Acidosis, Leukocytosis	ORPHA:90064
Secondary Intestinal Lymphangiectasia	Malabsorption, Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, I...	ORPHA:90363
Beta-Ketothiolase Deficiency	Ketonuria, Acidosis, Hepatomegaly, Leukocytosis, Hyperammonemia, Anorexia, Metabolic acidosis, In...	ORPHA:134
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Immunodeficiency 19	Failure to thrive, Diarrhea, Lymphopenia	OMIM:615617
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Carbamoyl-Phosphate Synthetase 1 Deficiency	Episodic ammonia intoxication, Hypoargininemia, Aminoaciduria, Hyperammonemia	ORPHA:147
Galactose Epimerase Deficiency	Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Weight loss, Growth delay, Nause...	ORPHA:79238
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomeg...	OMIM:259730
Secondary Short Bowel Syndrome	Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ...	ORPHA:95427
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv...	OMIM:193250
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypocalcemia, Cystinuria, Hypogonadism, Growth delay, Lactic acidosis	ORPHA:163693
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Hypertension, Diarrhea, Schistocytosis, Elevated c...	OMIM:235400
Hyperparathyroidism 4	Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia	OMIM:617343
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:228312
Renal Tubular Acidosis Iii	Nephrolithiasis, Hypokalemia, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrocal...	OMIM:267200
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Hypocalcemia, Cystinuria, Decreased response to growth hormone stimulation test,...	OMIM:606407
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Failure to thrive, Gastroesophageal reflux, Feeding difficulties	OMIM:618426
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract, Thrombocytopenia, ...	ORPHA:67048
Neuroleptic Malignant Syndrome	Metabolic acidosis, Vomiting, Proteinuria, Hyperuricemia, Hyperhidrosis, Myoglobinuria, Elevated ...	ORPHA:94093
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis, Episodic vomiting, Elevated circulating creatine kinase concentration, Decrea...	OMIM:272300
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Primary Hyperoxaluria	Intermittent claudication, Chronic kidney disease, Raynaud phenomenon, Metabolic acidosis, Calciu...	ORPHA:416
Fructose Intolerance, Hereditary	Hypophosphatemia, Transient aminoaciduria, Hepatomegaly, Hyperbilirubinemia, Metabolic acidosis, ...	OMIM:229600
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephro...	OMIM:145001
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki...	ORPHA:276621
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Bilateral renal atrophy, Congenital diaphragmatic hernia, Metatarsal osteolysis,...	OMIM:166300
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Pallor, Splenomegaly	ORPHA:75563
Immunodeficiency 104	Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Diarrhea, T lymphocytopenia, Oral ulcer, Fai...	OMIM:608971
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Alpha-Heavy Chain Disease	Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Grow...	ORPHA:100025
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Abdominal cramps, Constipation, Diarrhea, Vomiting, Elevated circulating thymidine concentration,...	OMIM:603041
Hypophosphatasia	Craniosynostosis, Short stature, Bowing of the long bones, Hypercalcemia, Abnormal metaphysis mor...	ORPHA:436
Galactosemia Iii	Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Vomiting, Hypergalactosemia, Galact...	OMIM:230350
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating tyrosine concentration, Failure to thrive, Feeding difficulties, Metabolic a...	ORPHA:79096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone...	ORPHA:100083
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Metabolic ketoacidosis, Pancreatitis, Hepatomegaly, Episodic metabolic acidosis, Hyperammonemia, ...	OMIM:251000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Diarrhea, Elevated circulating ...	ORPHA:42
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Meth...	OMIM:251110
Leprechaunism	Severe intrauterine growth retardation, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Postnatal gr...	ORPHA:508
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Mild postnatal growth retardat...	OMIM:224120
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp...	ORPHA:731
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemoglo...	OMIM:194380
Combined Oxidative Phosphorylation Deficiency 30	Decreased liver function, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Incre...	OMIM:616974
Familial Hyperaldosteronism Type Ii	Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulat...	ORPHA:404
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Hyperkalemia, Ren...	OMIM:614736
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphoc...	OMIM:600802
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	OMIM:300200
Hypocalciuric Hypercalcemia, Familial, Type Iii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp...	OMIM:600740
Multiple Myeloma	Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Elevated circulating...	ORPHA:29073
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Metabolic acidosis, Increased serum lactate, Macrovesicular hepatic steatosis, Oste...	OMIM:618234
Congenital Hypothyroidism	Nephrolithiasis, Sinusitis, Abnormality of the thyroid gland, Abdominal distention, Constipation,...	ORPHA:442
Mitochondrial Pyruvate Carrier Deficiency	Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria	OMIM:614741
Desmoid Tumor	Malabsorption, Abdominal pain, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal...	ORPHA:873
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morphology, Disprop...	ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased serum lactate, Lactic acidosis, Growth delay, Anemia, Thrombocytopenia	OMIM:614946
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Acidosis, Hypokalemia, Aminoaciduria, Hypophosphatemia, Glycosuria, Re...	OMIM:134600
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina...	ORPHA:44890
Combined Malonic And Methylmalonic Acidemia	Acidosis, Dehydration, Methylmalonic aciduria, Vomiting, Dicarboxylic aciduria, Ketoacidosis, Int...	ORPHA:289504
Isovaleric Acidemia	Hyperglycinuria, Cerebellar hemorrhage, Metabolic acidosis, Dehydration, Leukopenia, Vomiting, Ke...	OMIM:243500
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly, Pallor, Diarrhea, Hemolytic anemia, Nausea an...	ORPHA:56425
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Flexion contracture, Micropenis, Hypertrophic cardiomyopathy, Hypospadias, Hydro...	OMIM:618815
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting	OMIM:613743
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyr...	ORPHA:99880
Cardiomyopathy, Dilated, 2C	Increased serum lactate	OMIM:618189
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Proteinuria, Adrenal pheochromocytoma, Elevated urinary epinephrine, Cerebral hemorrha...	ORPHA:29072
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Metabolic acidosis, Lactic acidosis, Increased serum lactate	ORPHA:91130
Diabetes Mellitus, Ketosis-Prone	Ketoacidosis	OMIM:612227
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Meth...	OMIM:251100
Marburg Hemorrhagic Fever	Odynophagia, Pancreatitis, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Ret...	ORPHA:99826
Alagille Syndrome 1	Exocrine pancreatic insufficiency, Band keratopathy, Reduced number of intrahepatic bile ducts, M...	OMIM:118450
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Tubul...	OMIM:614582
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P...	ORPHA:2239
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Short stature, Increased serum lactate, Weakness of facial musculature, Proximal muscle weakness ...	ORPHA:457050
Liddle Syndrome 1	Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,...	OMIM:177200
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Metabo...	ORPHA:26791
Parathyroid Carcinoma	Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyr...	ORPHA:143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	High palate, Restrictive cardiomyopathy, Osteopenia, Ureteral stenosis, Hypercalciuria, Osteoporo...	OMIM:615398
Osteochondrosis Of The Metatarsal Bone	Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cortex of bones, Abno...	ORPHA:564003
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis	OMIM:150170
Hypophosphatemic Rickets	Elevated circulating parathyroid hormone level, Hypocalciuria, Bowing of the long bones, Renal ph...	ORPHA:437
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon...	ORPHA:848
Congenital Erythropoietic Porphyria	Corneal ulceration, Anisocytosis, Osteopenia, Nonimmune hydrops fetalis, Osteolysis, Reduced hapt...	ORPHA:79277
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Elevated creatine kinase after exercise, Exercise-induced rhabdomyolysis,...	ORPHA:284426
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Multiple Endocrine Neoplasia Type 1	Thymoma, Melena, Increased serum serotonin, Pituitary growth hormone cell adenoma, Constipation, ...	ORPHA:652
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Polyuria, Hematochezia, Hypothyroidism, Hypertr...	OMIM:618183
Retinohepatoendocrinologic Syndrome	Pallor, Maturity-onset diabetes of the young, Degenerative liver disease, Elevated circulating cr...	OMIM:268040
Cog7-Cdg	Failure to thrive, Narrow mouth, Hepatomegaly, Feeding difficulties, Small for gestational age, E...	ORPHA:79333
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Feeding diffi...	ORPHA:2394
Reticular Dysgenesis	Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, ...	ORPHA:33355
Myopathy With Lactic Acidosis, Hereditary	Increased serum lactate, Palpitations, Myoglobinuria, Elevated circulating creatine kinase concen...	OMIM:255125
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia	OMIM:238750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Hypoproteinemia, Lym...	OMIM:615895
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas...	OMIM:609560
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hepatic failure, Vomiting, Primary adrenal insufficiency, Hypogo...	OMIM:617872
Lowe Oculocerebrorenal Syndrome	Constipation, Genu valgum, Proteinuria, Osteomalacia, Hip dislocation, Hyperphosphaturia, Elevate...	OMIM:309000
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Feeding difficulties, Small for gestational age, Metabolic acidosis, Increased...	OMIM:614702
Renpenning Syndrome	Anal atresia, Narrow mouth, Severe short stature, High, narrow palate, Cleft palate, Malar flatte...	ORPHA:3242
Fumarase Deficiency	High palate, Failure to thrive, Hyperbilirubinemia, Aminoaciduria, Hepatic failure, Polycythemia,...	OMIM:606812
Ring Chromosome 10 Syndrome	Renal hypoplasia/aplasia, Hypocalcemia, Thin vermilion border, Cachexia, Micrognathia, Long philt...	ORPHA:1438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Gastroesophageal reflux, High, narrow palate, Congenital ...	ORPHA:369837
Solitary Rectal Ulcer Syndrome	Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina...	ORPHA:209964
X-Linked Creatine Transporter Deficiency	Ileus, Constipation, Malar flattening, Short stature, Open mouth, Cachexia, Redundant skin, Abnor...	ORPHA:52503
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Radial bowing, Hypercalciuria	OMIM:617993
Alg12-Cdg	Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Micropenis, Intestinal malrotat...	ORPHA:79324
Mulibrey Nanism	Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature	ORPHA:2576
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Metabolic alkalosis, Renal cortical adenoma, Nausea, Decreased circulating renin lev...	ORPHA:231632
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Apnea, Central Sleep	Lactic acidosis, Urinary incontinence	OMIM:207720
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Diarrhea, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentrat...	ORPHA:247598
Nephrogenic Diabetes Insipidus	Failure to thrive, Nephrogenic diabetes insipidus, Constipation, Feeding difficulties, Short stat...	ORPHA:223
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary...	OMIM:248190
Multicentric Reticulohistiocytosis	Histiocytosis, Cachexia	ORPHA:139436
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin...	OMIM:266200
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia, Feeding difficulties	OMIM:143860
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr...	OMIM:251880
Developmental And Epileptic Encephalopathy 53	Increased serum lactate	OMIM:617389
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Abdominal pain, Hypoproteinemia, I...	ORPHA:398063
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Decreased circul...	OMIM:615474
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula...	OMIM:103900
Variegate Porphyria	Constipation, Abdominal pain, Increased urinary porphobilinogen, Elevated urinary delta-aminolevu...	OMIM:176200
Combined Oxidative Phosphorylation Deficiency 4	Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperammonemia	OMIM:610678
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Episodic metabolic acidosis, Flexion contracture, Cardiomyopathy, Facial palsy, Ethylmalonic acid...	OMIM:201470
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria, Lactic acidosis, Neonatal death, Hypertrophic cardiomyopathy	OMIM:617184
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Constipation, Short stature, Metabolic acidosis, M...	OMIM:248360
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Short stature, Pallor, Anisocytosi...	ORPHA:98870
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra...	ORPHA:2364
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, Hyperten...	OMIM:603278
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Abdominal distention, Diarrhea, Hematuria, Vomiting, Hypernat...	ORPHA:35710
Glucose/Galactose Malabsorption	Failure to thrive, Malabsorption, Abdominal distention, Metabolic acidosis, Glycosuria, Chronic d...	OMIM:606824
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre...	OMIM:300539
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Abnormal renal tubule morphology, Metabolic acidosis, Increased seru...	OMIM:611719
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp...	OMIM:171420
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Neonatal Severe Primary Hyperparathyroidism	Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega...	ORPHA:417
Hypocalciuric Hypercalcemia, Familial, Type Ii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati...	OMIM:145981
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor...	ORPHA:293978
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Constipation, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ...	ORPHA:32960
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Leukocytos...	ORPHA:20
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Pro...	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Feeding difficulties, Elevated lactate:pyruvate ratio, M...	OMIM:609060
Coenzyme Q10 Deficiency, Primary, 1	Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ...	OMIM:607426
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Choles...	ORPHA:172
Granulomatosis With Polyangiitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Hematuria, Proteinuria, Skin...	ORPHA:900
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa...	OMIM:618963
Maternally-Inherited Diabetes And Deafness	Malabsorption, Type II diabetes mellitus, Constipation, Abnormal circulating lipid concentration,...	ORPHA:225
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Cone-shaped epiphyses of the distal phalanges of the hand, Metabolic acidosis, Incr...	OMIM:618958
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H...	OMIM:245900
Lcat Deficiency	Corneal opacity, Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI co...	ORPHA:650
Pituitary Apoplexy	Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co...	ORPHA:95613
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge...	ORPHA:324575
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ...	ORPHA:94089
Sarcoidosis	Bone cyst, Hepatomegaly, Abnormal cardiac ventricular function, Cataract, Enlargement of parotid ...	ORPHA:797
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Decreased glo...	ORPHA:91500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Vomiting, Abnormal re...	ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis	OMIM:615595
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, A...	ORPHA:116
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight l...	ORPHA:100024
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ...	OMIM:612089
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Precocious puberty, Hypokalemia, Short stature, Decreased cir...	ORPHA:90795
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Mixed respiratory and metabolic acidosis, Elevated circulating creatine kinase con...	OMIM:145600
Hypocalciuric Hypercalcemia, Familial, Type I	Nephrolithiasis, Pancreatitis, Parathyroid adenoma, Hypocalciuria, Hypercalciuria, Hypercalcemia,...	OMIM:145980
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc...	ORPHA:276575
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Glycosuria, Renal Fanconi syndrome, Cataract, Stage 5 chronic kidney disease, Rickets	OMIM:268315
Waardenburg-Shah Syndrome	Constipation, Abdominal pain, Intestinal obstruction, Abnormal intestine morphology, Aganglionic ...	ORPHA:897
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Ascites, Abno...	ORPHA:2198
Trimethylaminuria	Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia	OMIM:602079
Pyruvate Carboxylase Deficiency	Hepatomegaly, Elevated lactate:pyruvate ratio, Metabolic acidosis, Hypertaurinemia, Vomiting, Inc...	ORPHA:3008
Diencephalic Syndrome	Decreased body weight, Everted lower lip vermilion, Cachexia, Abnormality of the hypothalamus-pit...	ORPHA:1672
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Micrognathia, Long philtrum, Delayed puberty, Anemia, Lactic acidosis	ORPHA:2598
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Gro...	OMIM:611490
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased serum lactate, Lactic acidosis	OMIM:618239
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Hepatomegaly, Feeding difficulties, Hepatic failure, Metabolic acidosis, In...	OMIM:618528
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Thrombocytopenia, ...	ORPHA:3226
Hereditary Folate Malabsorption	Megaloblastic anemia, Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Pallor, Eo...	ORPHA:90045
Pseudohypoaldosteronism, Type Iic	Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis, Hyperkalemia	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis, Hyperkalemia	OMIM:614496
Laryngotracheoesophageal Cleft Type 4	Intestinal atresia, Cachexia, Tracheoesophageal fistula, Abnormality of the spleen, Abnormality o...	ORPHA:93941
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Congestive heart failure, Cerebellar hemorrhage...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 39	Increased serum lactate	OMIM:618397
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne...	OMIM:266130
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Chronic diarrhea, Lactic acidosis...	OMIM:618805
Congenital Short Bowel Syndrome	Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, In...	OMIM:615237
Holoprosencephaly	Constipation, Median cleft lip and palate, Solitary median maxillary central incisor, Proteinuria...	ORPHA:2162
Familial Hypocalciuric Hypercalcemia	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati...	ORPHA:405
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Clinodactyly of the 5th finger, Short femur, Short stature, Broad distal phalanx of finger, Bifid...	OMIM:300990
Mcdonough Syndrome	Dental malocclusion, Short stature, Open bite, Cachexia, Short philtrum, Micrognathia, Abnormal p...	ORPHA:2471
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Metabolic acidosis, Increased serum lactate, Neonatal death, Hypertrophic ca...	OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased serum lactate	OMIM:618244
Juvenile Polyposis Of Infancy	Adenomatous colonic polyposis, Melena, Narrow mouth, Intestinal bleeding, High, narrow palate, Ab...	ORPHA:79076
Fanconi Renotubular Syndrome 5	Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Gly...	OMIM:618913
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi...	OMIM:146255
Glycogen Storage Disease Ib	Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate...	OMIM:232220
Mitochondrial Complex I Deficiency, Nuclear Type 22	Lactic acidosis	OMIM:618243
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Hepatomegaly, Increased serum lactate, Lactic acidosis, Dysphagia, Growth dela...	OMIM:613561
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Chronic diarrhea, Growt...	OMIM:619164
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Hyponatremia, ...	ORPHA:1930
Tetrasomy 12P	Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Short stature, Everted ...	ORPHA:884
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Hepatomegaly, Pancreatitis, Feeding difficulties, Splenomegaly, Abdominal pain...	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 33	Metabolic acidosis, Hyperammonemia	OMIM:618253
Fabry Disease	Angina pectoris, Abnormality of femur morphology, Telangiectasia of the skin, Hematuria, Cataract...	ORPHA:324
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Hemolytic anem...	ORPHA:288
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Growth delay, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency a...	ORPHA:89937
Primary Hyperoxaluria Type 1	Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent uri...	ORPHA:93598
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Hypoadrenocorticism, Familial	Adrenal insufficiency, Vomiting, Feeding difficulties in infancy, Adrenal hypoplasia, Hyponatremi...	OMIM:240200
Vipoma	Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating...	ORPHA:97282
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, Abnormality of endocrine pancrea...	ORPHA:93111
Multiple Endocrine Neoplasia Type 4	Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Hepatomegaly, Thrombocytopenia, Intrauterine growth retardation, Abnormality of ...	ORPHA:1980
Eosinophilic Gastroenteritis	Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ...	ORPHA:2070
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Narrow mouth, Cheilitis, Abdominal pain, Esophageal...	ORPHA:54028
Autoimmune Hemolytic Anemia	Abnormal urinary color, Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Pallor, Hemo...	ORPHA:98375
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, 3-Methylglutaconic aciduria, Cataract, Neutropenia, Growth delay, Bradyc...	OMIM:617248
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal mast cell morphology...	ORPHA:98849
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Severe short st...	ORPHA:3344
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu...	ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 23

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