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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 (2528 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 Impaired Intellectual Development		Cataract, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metaboli...	OMIM:604278

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

Disease	Matching phenotypes	Source
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased circulating lactate concentration	OMIM:618245
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased circulating lactate concentration	OMIM:249500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Me...	OMIM:611590
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metaboli...	OMIM:604278
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Vomiting, Diarrhea, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Pseudohypo...	OMIM:264350
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Nephrocalcinosis, Vomiting, Micromelia, Phospho...	OMIM:241500
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L...	ORPHA:79246
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Failure to thrive, Hyperecho...	OMIM:613845
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Vomiting, Rickets, Distal renal tubular acidosis, Metabolic acidosis, Hypokalem...	OMIM:602722
Succinic Acidemia	Lactic acidosis	OMIM:600335
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Myoglobinuria, Cirrhosis, Hepatomegaly, Esophageal vari...	ORPHA:264580
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnorma...	ORPHA:543
Fanconi-Bickel Syndrome	Nephropathy, Osteopenia, Generalized aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Growth...	ORPHA:2088
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis	ORPHA:391457
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Hypospadias, Decreased response to growth hormone stimulation t...	OMIM:614732
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Increased circulating lactate concentration, Cardiomyopathy, Intrauterine...	ORPHA:324525
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Postnatal growth retardation, Rhabdomyolysis, Myoglobinuria, Cirrhosis, Hepatomegaly, P...	ORPHA:79240
Acute Adrenal Insufficiency	Diarrhea, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency...	ORPHA:95409
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong...	OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl...	OMIM:613404
Familial Hypoaldosteronism	Hypotension, Diarrhea, Adrenal insufficiency, Metabolic acidosis, Hyponatremia, Hypovolemia, Decr...	ORPHA:427
Early-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decrease...	ORPHA:556030
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy...	ORPHA:54057
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300009
Acetyl-Coa Carboxylase-Alpha Deficiency	Increased circulating lactate concentration	OMIM:613933
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Hypokalemic met...	OMIM:601678
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased circulating lactate concentration, Metabolic acidosis	OMIM:615158
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Acidosis, Increased circulating renin level	OMIM:619406
East Syndrome	Abnormal urinary electrolyte concentration, Lower limb muscle weakness, Hypomagnesemia, Hyperaldo...	ORPHA:199343
Addison Disease	Diarrhea, Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Celiac disease, Hyperkal...	ORPHA:85138
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Metabolic acidosis, Hypophosphatem...	ORPHA:411634
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300554
Lysosomal Acid Lipase Deficiency	Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Nausea and vomit...	ORPHA:275761
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Renal phosphate...	OMIM:241530
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting,...	OMIM:203400
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti...	ORPHA:26790
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Combined Oxidative Phosphorylation Deficiency 55	Organic aciduria, Myopathy, Talipes equinovarus, Hypophosphatemia, High palate, Genu varum, Incre...	OMIM:619743
Mirage Syndrome	Lymphopenia, Decreased body weight, Achalasia, Hyperkalemia, Hypospadias, Hypoplastic spleen, Gas...	OMIM:617053
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe...	OMIM:618892
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney ...	ORPHA:1652
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Episodic ketoacidosis, Lactic acidosis, Ketoacidosis	OMIM:236795
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decrease...	ORPHA:556037
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocyto...	ORPHA:2123
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Wolcott-Rallison Syndrome	Chronic kidney disease, Acute hepatic failure, Hyperbilirubinemia, Decreased body weight, Neutrop...	ORPHA:1667
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Distal Renal Tubular Acidosis	Diarrhea, Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Alkaline urine, Hypermag...	ORPHA:18
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma...	OMIM:248250
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Hypercalcemia, Splenomegal...	OMIM:618440
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Vomiting, Abnormal circulating aldoster...	ORPHA:171876
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Metabolic acidosis, Neutropenia, Hepatome...	OMIM:557000
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neo...	ORPHA:388
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Primary adrenal insuff...	OMIM:530000
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Pseu...	OMIM:177735
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Anorexia, Abdominal pain, Ab...	ORPHA:810
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Myopathy, Metabolic acidosis, Hematur...	OMIM:219800
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Metabolic acidosis	OMIM:231900
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, R...	OMIM:614922
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, H...	OMIM:612780
Wolman Disease	Hepatic failure, Malnutrition, Adrenal calcification, Ascites, Adrenal insufficiency, Nausea and ...	ORPHA:75233
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypertension, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia...	ORPHA:69077
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Vomiting, Hypokalemia, Hypokalemic alkalo...	OMIM:241150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Vomiting, Renal tubular acidosis, Hypercalciuria, Hypercal...	OMIM:239199
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Purple urine, Increased urinary porphobilinogen, Abno...	ORPHA:100924
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Proximal renal tub...	OMIM:266150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Vomiting, Growth delay, Intestinal lymphangiectasia, Ascites, Malabsor...	OMIM:226300
Diarrhea 1, Secretory Chloride, Congenital	Alkalosis, Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Elevated serum bicarbonate ...	OMIM:214700
Combined Oxidative Phosphorylation Deficiency 44	Increased circulating lactate concentration	OMIM:618855
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Postnatal growth retardation, Hyperbilirubinemia, Increased serum bil...	OMIM:227810
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Diarrhea, Vomiting...	OMIM:230400
Gitelman Syndrome	Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Vomiting, Hypomagnesemia, Growth d...	OMIM:263800
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Anemia, Hyperca...	ORPHA:2668
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Nephrocalcinosis, Vomiting, Medullary nephrocalc...	OMIM:143880
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Increased circulating lactate concentration, Type 2 muscle fiber predominance, Skeletal...	OMIM:615471
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Cachexia, Weight loss, Cirrhosis, Abdominal distention, Abdominal pain, Macrovesicular ...	ORPHA:298
Castleman Disease	Mediastinal lymphadenopathy, Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Inte...	ORPHA:160
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Lymphopen...	OMIM:243150
Tyrosinemia, Type I	Metabolic acidosis, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage, A...	OMIM:276700
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hyp...	ORPHA:699
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Peutz-Jeghers Syndrome	Abnormality of the ureter, Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplas...	ORPHA:2869
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Gitelman Syndrome	Diarrhea, Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, T...	ORPHA:358
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Hypokalemic met...	OMIM:241200
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Hypercalcemia, Splenomegaly, Hyper...	OMIM:239200
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased circulating lactate concentration	OMIM:614055
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int...	OMIM:266600
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Neonatal de...	OMIM:619003
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr...	ORPHA:251274
Porphyria Variegata	Chronic kidney disease, Abnormality of the liver, Increased urinary porphobilinogen, Abnormal cir...	ORPHA:79473
Late-Onset Isolated Acth Deficiency	Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pai...	ORPHA:199299
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circ...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 16	Increased circulating lactate concentration	OMIM:615395
Say Syndrome	Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proximal renal tubular acidosi...	OMIM:181180
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Avascul...	OMIM:611555
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Hypomagnesemia, Hyperald...	ORPHA:89938
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Lactic acidosis, Cach...	OMIM:612075
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Hyperchlore...	OMIM:179830
Blue Diaper Syndrome	Nephrocalcinosis, Diarrhea, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone c...	ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Congenital lactic acidosis, Increased circulating lactate concentration, Vomiting, Intrauterine g...	OMIM:615824
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Alg8-Cdg	Diarrhea, Vomiting, Failure to thrive, Premature skin wrinkling, Ascites, Intrauterine growth ret...	ORPHA:79325
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased circulating lactate concentration	OMIM:619062
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Renal tubular acidosis, Transient hyperlipi...	ORPHA:156
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Hawkinsinuria	Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet...	ORPHA:2118
Proximal Renal Tubular Acidosis	Diarrhea, Bicarbonaturia, Aminoaciduria, Cataract, Hypovolemia, Nephrocalcinosis, Band keratopath...	ORPHA:47159
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Myopathy, Jaundice, Hemolytic anemia	ORPHA:33574
Necrotizing Enterocolitis	Acidosis, Increased circulating lactate concentration, Diarrhea, Abdominal distention, Vomiting, ...	ORPHA:391673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Wilson Disease	Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Hyperbilirubinemia, Limb muscle weakness, Hepa...	OMIM:277900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni...	OMIM:613090
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nocturia, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia, ...	ORPHA:178029
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal...	OMIM:616963
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Coproporphyria, Hereditary	Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Incr...	OMIM:121300
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating renin level, H...	OMIM:613677
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Polyhydramnio...	ORPHA:2204
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, El...	OMIM:613388
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration, Microangiopathic hemolytic anemia, Elevated circulat...	OMIM:274150
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Osteopenia, Metaphyseal cupping, Nephrocalcinosis, Hyperphosphaturia, Knee ...	OMIM:156400
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis, Dicarboxyl...	OMIM:615026
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hematuria, Feeding difficultie...	ORPHA:534
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Leigh Syndrome	Myopathy, 3-Methylglutaconic aciduria, Neutropenia, Nephrotic syndrome, Dysphagia, Cataract, Gene...	ORPHA:506
Snakebite Envenomation	Gingival bleeding, Erythema, Acute kidney injury, Diarrhea, Vomiting, Neuromuscular dysphagia, Ps...	ORPHA:449285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia	ORPHA:46532
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Abnormal cornea morphology, Corneal crystals, Rickets, Glycosuria, Vomit...	ORPHA:411629
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Vomiting, Glycosuria, Hypertrophic cardiomyopathy, Lactic acidosis, Hyperphosphatu...	ORPHA:436271
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Rec...	ORPHA:90038
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Increased circulating lactate concentration, Growth delay, Failure to thrive, Sideroblastic anemi...	OMIM:613561
Leishmaniasis	Hypoalbuminemia, Abnormal oral mucosa morphology, Skin ulcer, Pancytopenia, Leukopenia, Pallor, S...	ORPHA:507
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Nephrol...	ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Hypertrophic cardiomyopat...	OMIM:220110
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency...	ORPHA:99879
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic islet-cell...	ORPHA:263455
Hereditary Coproporphyria	Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen...	ORPHA:79273
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Peptic ulcer, Increased mean corpuscular hemogl...	ORPHA:90041
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased circulating lactate concentration, Failure to thrive, Metabolic acidosis, Feeding diffi...	OMIM:610090
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype...	ORPHA:73224
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Hyperkalemia, Dehydration, Inc...	OMIM:620125
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Vomiting, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Hyperkalemia, Dehydration, Increa...	OMIM:620126
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Cardiomyopathy, Pancytopeni...	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Adrenal ...	OMIM:619386
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Elevated circulating creatinine concentration, Distal renal tubul...	OMIM:179800
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstructi...	ORPHA:67
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Malabsorption, Stomach cancer, Splenomegal...	ORPHA:2930
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin...	OMIM:175500
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content...	OMIM:232800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Vom...	ORPHA:90791
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Elevated circulating sebacic acid concentration, Ele...	OMIM:615160
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:94080
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Ascites, Malabs...	ORPHA:131
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni...	OMIM:602522
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Andersen-Tawil Syndrome	Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona...	ORPHA:37553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased circulating lactate concentration, Increased mean corpuscular volume, ...	OMIM:617021
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin...	ORPHA:26792
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Metabolic acidosis, Proximal renal tubular acidosis, Hepatomegaly, Elliptocytosis, ...	ORPHA:2785
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly,...	ORPHA:549
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating lactate concentration, Hypochromic anemia, Failure to thrive, Increased cir...	OMIM:600462
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Congestive heart failure, Intrauterine growth retard...	OMIM:619048
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Zollinger-Ellison Syndrome	Erythema, Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Incre...	ORPHA:913
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Cachexia, Neutropenia, Tubulointerstitial nephritis, Abnormal bloo...	ORPHA:37042
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia	ORPHA:52416
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Hypertension, Delayed puberty, Episodic hemolytic anemia, Increased blood urea nitro...	ORPHA:251004
Developmental And Epileptic Encephalopathy 50	Diarrhea, Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis,...	OMIM:616457
Sengers Syndrome	Cataract, Osteopenia, Exercise-induced lactic acidemia, Increased circulating lactate concentrati...	OMIM:212350
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo...	OMIM:613662
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Dry skin, Congenital hypothyroidism, Increased body weight, Increased ...	OMIM:614450
Glycogen Storage Disease 0, Liver	Increased circulating lactate concentration	OMIM:240600
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Lacti...	ORPHA:53693
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Splenomegaly, Ma...	OMIM:619046
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, ...	OMIM:304790
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Colchicine Poisoning	Oliguria, Diarrhea, Vomiting, Hypomagnesemia, Lactic acidosis, Leukocytosis, Renal insufficiency,...	ORPHA:31824
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Increased circulating lactate concentration, Ragged-red ...	OMIM:616209
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Exercise-induced myoglobinuria, Renal insufficiency, Reticulocytosis, Rhab...	OMIM:300653
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ...	ORPHA:231580
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Hydroxykynureninuria	Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic aci...	ORPHA:79155
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormali...	ORPHA:1133
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Nephrolithiasis, Hypokalemia, Decreased circulating renin l...	OMIM:615474
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ketoacidosis, Elevated serum anion gap, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic acidu...	OMIM:618120
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,...	OMIM:615631
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Polyhydramnios, ...	OMIM:300971
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtrat...	ORPHA:94088
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnorm...	ORPHA:83469
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Megacystis, Volvulus, ...	OMIM:619350
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Nausea and vomiting, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, T...	ORPHA:83601
Sialidosis Type 2	Nephropathy, Skeletal muscle atrophy, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly, Osteo...	ORPHA:87876
Infantile Myofibromatosis	Skin ulcer, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Abn...	ORPHA:2591
Idiopathic Hypercalciuria	Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis	ORPHA:2197
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Splenomegaly, Hyponatremia, Hepatomegaly, C...	ORPHA:3452
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Abnormal abdomen morphology, Hyp...	OMIM:211000
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Sepsis In Premature Infants	Diarrhea, Metabolic acidosis, Decreased body weight, Neutropenia, Abdominal distention, Hepatomeg...	ORPHA:90051
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Growth delay, Hypertrophic cardiomyopathy, Intermi...	ORPHA:369
Sheehan Syndrome	Dry skin, Central adrenal insufficiency, Decreased serum estradiol, Obesity, Pallor, Decreased ci...	ORPHA:91355
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gin...	ORPHA:517
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Rhabdomyolysis, Myopathy, Myoglobinuria...	ORPHA:713
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Increased circulating lactate concentration, Elevated circulating thyr...	OMIM:617872
Combined Oxidative Phosphorylation Deficiency 43	Increased circulating lactate concentration, Gastroesophageal reflux, Intrauterine growth retarda...	OMIM:618851
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Increased ci...	ORPHA:97289
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Igg4-Related Aortitis	Hypereosinophilia, Intestinal obstruction, Hydronephrosis, Weight loss, Elevated circulating C-re...	ORPHA:449400
Oculoskeletodental Syndrome	Short 5th finger, Nephrocalcinosis, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hy...	ORPHA:557003
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Metabolic acidosis	ORPHA:2597
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Short humerus, Lateral femoral bowing, Bowing o...	OMIM:239000
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acid...	OMIM:259730
Aids Wasting Syndrome	Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei...	ORPHA:90081
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Pallor, Splenom...	OMIM:615234
Sanjad-Sakati Syndrome	Abnormality of the dentition, Hyperphosphatemia, Long philtrum, Abnormal dental enamel morphology...	ORPHA:2323
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto...	ORPHA:35858
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Lactic acidosis, Se...	OMIM:616111
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Acute kidney injury, Anuria, Gast...	ORPHA:544482
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Hypokalemia, Hyponatremia, Po...	OMIM:620152
Cholera	Acidosis, Acute kidney injury, Diarrhea, Vomiting, Abnormal blood ion concentration, Lactic acido...	ORPHA:173
Acute Peripheral Arterial Occlusion	Acidosis, Leukocytosis, Pallor	ORPHA:90064
Beta-Ketothiolase Deficiency	Acidosis, Increased circulating lactate concentration, Diarrhea, Ketonuria, Vomiting, Ketoacidosi...	ORPHA:134
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Gastrointestinal hemorrhage, Diarrhea, Growth delay, Recurrent aphthous stomatitis, Int...	ORPHA:343
Vici Syndrome	Cataract, Cardiomyopathy, Renal tubular acidosis, Ureteral atresia, Short stature, High palate	ORPHA:1493
Galactose Epimerase Deficiency	Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth del...	ORPHA:79238
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Bilateral renal atrophy, Carpal osteolysis, Metacarpal osteolysis, Ulnar deviation of...	OMIM:166300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hyperc...	OMIM:612286
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Hyperbilirubinemia, Micrognathia, Hepatic steatosis, Metabolic aci...	OMIM:619991
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Elevated circulati...	OMIM:618183
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Hyperammonemia, Metabolic acidosis	OMIM:620137
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l...	ORPHA:276621
2P21 Microdeletion Syndrome	Hypogonadism, Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Hypophosphatasia	Abnormal metaphysis morphology, Bowing of the long bones, Short stature, Anemia, Craniosynostosis...	ORPHA:436
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Increased circulating lactate concentration, Proteinuria, Decreased level of coe...	OMIM:614652
Familial Mediterranean Fever	Nephropathy, Erythema, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstructi...	ORPHA:342
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Metabolic acidosis, Myopathy, Elevated circulating creatine kinase con...	ORPHA:408
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Pallor, Splenomegaly	ORPHA:75563
Renal Tubular Acidosis Iii	Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithia...	OMIM:267200
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting,...	ORPHA:90363
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,...	ORPHA:416
Multiple Endocrine Neoplasia Type 2	Diarrhea, Abnormal tongue morphology, Elevated urinary vanillylmandelic acid, Elevated urinary ca...	ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Gastroesophageal reflux, Growth delay, Renal a...	OMIM:617913
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vomiting, Intestinal obst...	ORPHA:183
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Increased circulating lactate concentration, Decrea...	OMIM:246450
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Increased circulating lactate concentration, Decreased response to growth h...	OMIM:606407
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Vomiting,...	OMIM:229600
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr...	OMIM:603041
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r...	OMIM:145001
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	OMIM:612933
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Diarrhea, Anuria, Microangiopathic hemolytic anemia, Elevated circulating cr...	OMIM:235400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Diarrhea, Vomiting, Decreased liver function, Dicarboxyli...	ORPHA:42
Isovaleric Acidemia	Hyperglycinuria, Bone marrow hypocellularity, Vomiting, Ketoacidosis, Pancytopenia, Leukopenia, M...	OMIM:243500
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Mild postnatal gr...	OMIM:224120
Acute Intermittent Porphyria	Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge...	ORPHA:79276
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Cardiomyopathy, Lactic acidosis, 3-Methylglutaconic aciduria, Th...	ORPHA:67048
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ...	ORPHA:1830
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Paraganglioma of head and neck, Aniridia, Palpitations, Cerebral...	ORPHA:29072
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Vomiting, Rickets, Renal insufficiency, Por...	ORPHA:213
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections, Splenomeg...	OMIM:608971
Secondary Short Bowel Syndrome	Diarrhea, Cholestasis, Low plasma citrulline, Weight loss, Abdominal distention, Abnormal blood i...	ORPHA:95427
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Elevated circulating creatinine concentration, Func...	ORPHA:29073
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Peptic ulcer, Hypocalciuria, Osteomalacia, Multiple small medullary renal cysts,...	OMIM:600740
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Metabolic acidosis, Myoglobinuria, Urinary incontinence, Hyperkalemia, Dysphag...	ORPHA:94093
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC...	OMIM:614736
Leprechaunism	Megarectum, Nephrocalcinosis, Long penis, Central hypothyroidism, Skeletal muscle atrophy, Hypera...	ORPHA:508
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ...	OMIM:309000
Sulfite Oxidase Deficiency, Isolated	Ectopia lentis, Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Elevated circula...	OMIM:272300
Mitochondrial Myopathy, Infantile, Transient	Increased circulating lactate concentration, Decreased circulating carnitine concentration, Failu...	OMIM:500009
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Bradycardia, Developmental ...	OMIM:618815
Dihydropyrimidinase Deficiency	Growth delay, Elevated circulating thymine concentration, Elevated urinary thymine level, Elevate...	OMIM:222748
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Increased circulating lactate concentration, Intrauterine growth retardation, Lactic...	OMIM:618253
Alagille Syndrome 1	Cholestasis, Axenfeld anomaly, Posterior embryotoxon, Cirrhosis, Duplicated collecting system, Re...	OMIM:118450
Galactosemia Iii	Aminoaciduria, Galactosuria, Vomiting, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, H...	OMIM:230350
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased circu...	ORPHA:457050
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphaden...	ORPHA:100025
Cold Agglutinin Disease	Diarrhea, Abnormal urinary color, Pallor, Splenomegaly, Nausea and vomiting, Lymphadenopathy, Hep...	ORPHA:56425
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ...	ORPHA:289157
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr...	OMIM:300200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati...	OMIM:194380
Majeed Syndrome	Failure to thrive, Malabsorption, Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Cachex...	ORPHA:77297
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased circulating lactate concentration, Lactic acidosis, Metabolic acidosis	ORPHA:91130
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Episodic metabolic acidosis, Leuko...	OMIM:251000
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Renal insufficiency...	ORPHA:247353
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Methylmalonic aciduria, Elevated serum anion gap, Failure to thrive, Pancyto...	OMIM:251100
Mitochondrial Pyruvate Carrier Deficiency	Increased circulating lactate concentration, Increased serum pyruvate, Organic aciduria, Lactic a...	OMIM:614741
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting...	ORPHA:44890
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Rhabdomyolysis, Metabolic acidosis, Arrhythmia, He...	ORPHA:26791
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Beta-amino...	OMIM:615330
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti...	ORPHA:100083
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob...	ORPHA:848
Diabetes Mellitus, Ketosis-Prone	Ketoacidosis	OMIM:612227
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Increa...	ORPHA:731
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Lipoyltransferase 1 Deficiency	Increased circulating lactate concentration, Increased total bilirubin, Lactic acidosis, Hyperpro...	OMIM:616299
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Jaundice, Tachycardia, Shock, Eleva...	ORPHA:99826
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Hydrone...	ORPHA:873
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Exercise-induced rha...	ORPHA:284426
Hawkinsinuria	Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyph...	OMIM:140350
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, High, narrow...	ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Restrictive cardiomyopathy, Hydrourete...	OMIM:615398
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Keratoconjunctivitis, Increased fecal coproporphyrin 1, Poikilocytosis...	ORPHA:79277
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Ketonuria, Ketoacidosis, Episodic ketoacidosis, Lact...	OMIM:615453
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Elevated circulatin...	OMIM:618416
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Intrauterine growth retardation, Renal insufficiency, Abnormality of circulatin...	ORPHA:320
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Combined Oxidative Phosphorylation Deficiency 9	Increased circulating lactate concentration, Elevated serum anion gap, Ketoacidosis, Metabolic ac...	OMIM:614582
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria, Radial bowing	OMIM:617993
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis	OMIM:150170
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce...	ORPHA:652
Combined Malonic And Methylmalonic Acidemia	Acidosis, Vomiting, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic aciduria, Dicarboxylic aci...	ORPHA:289504
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Vomiting, Elevated circulating propion...	OMIM:251110
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia, Malar flattening, Hypon...	OMIM:620157
X-Linked Creatine Transporter Deficiency	Ileus, Redundant skin, Open mouth, Malar flattening, Aganglionic megacolon, Cachexia, Constipatio...	ORPHA:52503
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Abnormal parathyroid morphology, Hypophosphatemia, Parathyroid adenoma, Dy...	ORPHA:99880
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Failure to th...	OMIM:615895
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Gastroesophageal re...	OMIM:616974
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc...	ORPHA:846
Pyridoxal Phosphate-Responsive Seizures	Increased circulating lactate concentration, Failure to thrive, Abnormal circulating arginine con...	ORPHA:79096
Ring Chromosome 10 Syndrome	Long philtrum, Intrauterine growth retardation, Micrognathia, Hypocalcemia, Renal hypoplasia/apla...	ORPHA:1438
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Failure to thrive, Ascites, Intrauterine growth reta...	OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Cog7-Cdg	Diarrhea, Failure to thrive, Retrognathia, Postnatal growth retardation, Hepatosplenomegaly, Micr...	ORPHA:79333
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia	ORPHA:147
Renpenning Syndrome	High, narrow palate, Severe short stature, Mandibular prognathia, Growth delay, Macrodontia, Narr...	ORPHA:3242
Parathyroid Carcinoma	Shortened QT interval, Abnormal parathyroid morphology, Hypophosphatemia, Dysphagia, Pancreatic a...	ORPHA:143
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Dehydration, Renal insufficiency, Nephrolithiasis, Hematuria, Osmotic diarrhe...	ORPHA:35710
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Melena, Increased mean corpuscular v...	ORPHA:98870
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior synechiae of the anterior chamber, Elevated circulating C-reactive protein concentratio...	ORPHA:91500
Cardiomyopathy, Dilated, 2C	Increased circulating lactate concentration	OMIM:618189
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Lactic acidosis, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, ...	OMIM:609560
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria, Neonatal death	OMIM:617184
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increa...	ORPHA:247598
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Increased circulating lactate concentration, Diarrhea, Ketonuria, Anor...	ORPHA:20
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hyperchlorem...	OMIM:614492
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Dec...	ORPHA:209964
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa...	OMIM:616050
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin lev...	ORPHA:231632
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive, Feeding difficulties	OMIM:143860
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Protein-losing enteropathy, Hypomagnesemia, Microcytic anemia...	ORPHA:398063
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt...	OMIM:266200
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Alg12-Cdg	Hypoalbuminemia, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Hypocholeste...	ORPHA:79324
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia	OMIM:238750
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Peptic ulcer, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased...	OMIM:145981
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Cong...	OMIM:614096
Combined Oxidative Phosphorylation Deficiency 5	Increased circulating lactate concentration, Ascites, Hypertrophic cardiomyopathy, Lactic acidosi...	OMIM:611719
Combined Oxidative Phosphorylation Deficiency 18	Increased circulating lactate concentration, Skeletal muscle atrophy, Methylmalonic aciduria, Hyp...	OMIM:615578
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Hematuria, Prostatitis, Weight loss, Elevated circul...	ORPHA:900
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperins...	ORPHA:324575
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Increased circulating lactate concentr...	OMIM:614105
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased circulating lactate concentration	OMIM:619196
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level...	ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 4	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis	OMIM:610678
Variegate Porphyria	Vomiting, Increased fecal protoporphyrin concentration, Increased urinary porphobilinogen, Porphy...	OMIM:176200
Immunodeficiency 114, Folate-Responsive	Carious teeth, Skin ulcer, Increased circulating ferritin concentration, Lymphopenia, Postnatal g...	OMIM:620603
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Dilated cardiomyopathy, Methylmalonic aciduria, Diarrhea, Vomi...	OMIM:248360
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hyperphosphaturia, Metabolic ...	OMIM:616026
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Pancyto...	ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Vomiting, Decreased circulating carnitine concentration, Failure to thrive, Metabolic a...	OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased circulating lactate concentration, Distal amyotrophy, Metabolic acidosis, Limb hyperton...	OMIM:618247
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Tubulointerstitial nephritis, Hepatomegaly, Heart blo...	ORPHA:797
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276575
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Feeding...	ORPHA:223
Combined Oxidative Phosphorylation Deficiency 47	Cataract, Increased circulating lactate concentration, Toe syndactyly, Dehydration, Intrauterine ...	OMIM:618958
Pseudohypoparathyroidism, Type Ic	Cataract, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulatin...	OMIM:612462
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Proteinuria, Thrombocytopenia, Hypertension, Edema	OMIM:189800
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s...	ORPHA:2198
Isolated Atp Synthase Deficiency	Cataract, Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, La...	ORPHA:254913
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Nausea and vomit...	ORPHA:3226
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Short stature	OMIM:268315
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	ORPHA:2364
Combined Oxidative Phosphorylation Deficiency 1	Increased circulating lactate concentration, Cholestasis, Intrauterine growth retardation, Fulmin...	OMIM:609060
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Lactic acidosis, R...	OMIM:607426
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Skel...	OMIM:255125
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Osteoscl...	OMIM:602080
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Perit...	ORPHA:32960
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased circulating lactate concentration, Failure to thrive, Oroticaciduria, Lactic acidosis, ...	OMIM:620358
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Hypophosp...	OMIM:307800
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa...	OMIM:618963
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Increased circulating lactate concentration, Gastroesophageal reflux, Methylmaloni...	OMIM:612073
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:100024
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Mixed respi...	OMIM:145600
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycy...	ORPHA:116
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Plummer-Vinson Syndrome	Tongue atrophy, Pallor, Decreased circulating ferritin concentration, Narrow mouth, Iron deficien...	ORPHA:54028
Waardenburg-Shah Syndrome	Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom...	ORPHA:897
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Overlapping fingers, Talipes equinovarus, Duplicated collecting syste...	OMIM:301056
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti...	OMIM:145980
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Lactic acidosis, Micrognathia, Delayed puberty, Anemia, High palate	ORPHA:2598
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased circulating lactate concentration	OMIM:618244
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Intrauterine growth ret...	OMIM:618237
Diencephalic Syndrome	Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Everted lower lip vermilion, Abnormal...	ORPHA:1672
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cataract, Broad distal phalanx of finger, Nephrocalcinosis, Bifid uvula, Cleft hard palate, Polyh...	OMIM:300990
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Co...	OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Vomiting, Growth delay, Failure to thrive, Lactic ac...	OMIM:618226
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In...	ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath...	OMIM:618234
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Bowing of the long...	ORPHA:249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Nausea and vomiti...	ORPHA:79312
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, High, ...	ORPHA:79076
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Cachexia, Short stature...	ORPHA:2471
Dihydrolipoamide Dehydrogenase Deficiency	Ketoacidosis, Decreased liver function, Lactic acidosis, Metabolic acidosis, Hepatomegaly, Increa...	OMIM:246900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Increased circulating lactate concentration, Ketonuria, Lower limb muscle weakness, Microcytic an...	OMIM:251900
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Pyloric stenosis, Renal agenesis,...	ORPHA:93111
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal tibia morph...	ORPHA:3344
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:614496
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Hyperphosphaturia, Iron deficiency anemia, Hypophosphatemia,...	ORPHA:89937
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Nephrotic syndrome, Cataract...	ORPHA:324
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, De...	ORPHA:99901
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Lactic acidosis, Hepatic steato...	OMIM:618805
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia, Chronic metabolic...	OMIM:266130
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Metabolic acidosis, Hematuria, Feeding difficulties in infancy, N...	OMIM:277400
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone l...	OMIM:612089
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased circulating lactate concentration, Renal hypoplasia, Ketonuria, Hypertrophic cardiomyop...	OMIM:619053
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Metabolic acidosis, Myoglobinuria, Arrhythmia, Hepatome...	ORPHA:228308
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276580
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydro...	ORPHA:90794
Hsd10 Disease, Infantile Type	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	ORPHA:391428
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosi...	OMIM:230450
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Protein avoidance, Hepatomegaly, Hypolysinemia, Aminoaciduria, Hyperl...	OMIM:222700
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypoc...	ORPHA:428
Chromosome 14Q11-Q22 Deletion Syndrome	Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Renal tu...	OMIM:613457
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of the liver, Thrombocytopenia, Corneal opacity, Hep...	ORPHA:1980
Combined Oxidative Phosphorylation Deficiency 33	Increased circulating lactate concentration, Cardiomyopathy, Intrauterine growth retardation, Lac...	OMIM:617713
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, 3-Methylgluta...	ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lactic acidosis, Oligohydramnios, C...	OMIM:620135
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Failure to thrive, Ileus, Malar flattening, Aganglionic megacolon, Feeding difficulties...	OMIM:300352
Combined Oxidative Phosphorylation Deficiency 3	Severe lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentrat...	OMIM:610505
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Ricket...	OMIM:264700
Spasticity, Childhood-Onset, With Hyperglycinemia	Increased circulating lactate concentration	OMIM:616859
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Xanthelasma, Decreased g...	OMIM:232220
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Herpes Simplex Virus Encephalitis	Leukocytosis, Nausea and vomiting, Hyponatremia, Neutrophilia, Elevated circulating C-reactive pr...	ORPHA:1930
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Immunodeficiency 27A	Hypoalbuminemia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss,...	OMIM:209950
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology, Short statur...	ORPHA:2512
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceride...	OMIM:614480
Reticular Dysgenesis	Diarrhea, Skin ulcer, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorpt...	ORPHA:33355
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Feeding diffic...	ORPHA:276556
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Cario...	ORPHA:89842
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Hypocalciuria, Hypomagnesiuria, Osteomalac...	ORPHA:405
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Urinary retention, Paralytic ileus, Nausea, Abdominal pain, Constipation, Red...	OMIM:176000
Mitochondrial Complex I Deficiency, Nuclear Type 34	Lactic acidosis, Metabolic acidosis	OMIM:618776
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Ascites, Malabsorp...	ORPHA:2070
Hypoadrenocorticism, Familial	Vomiting, Adrenal insufficiency, Hyponatremia, Feeding difficulties in infancy, Adrenal hypoplasi...	OMIM:240200
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Metabolic acidosis	OMIM:203740
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den...	ORPHA:2370
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating lactate concentration, Hypotension, Dilated cardiomyopathy, Tricuspid regur...	OMIM:620300
Williams Syndrome	Megalocornea, Genu valgum, Type II diabetes mellitus, Mitral regurgitation, Myopathy, Radioulnar ...	ORPHA:904
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular p...	OMIM:211900
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Metabolic acidosis, Anorexia, Hepatomegaly, Elevated lactate:pyruvat...	ORPHA:3008
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypercalcemia, Met...	OMIM:617994
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Methylmalonic aciduria, Intrauterine growth retardation, Lactic acidosis...	OMIM:245400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Pallor, Megaloblastic anemia, Thrombocytopenia, Anorexia, Short stature, Diabetes mellitus	ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Feeding difficulties, Metabolic acidosis, Episodic vomiting	OMIM:618224
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Growth delay, Decreased muscle mass, Xanthelasma, Decreased g...	OMIM:232200
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Holoprosencephaly	Abnormality of the spleen, Feeding difficulties in infancy, Gastroesophageal reflux, Failure to t...	ORPHA:2162
Idiopathic Achalasia	Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los...	ORPHA:930
Ethylene Glycol Poisoning	Metabolic acidosis, Hematuria, Pulmonary edema, Tachycardia, Cerebral edema, Hyperkalemia, Elevat...	ORPHA:31826
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Increased circulating lactate concentration, Failure to thrive, ...	OMIM:604273
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hyperinsulinemia, Ileus, Splenomegaly, Hepatic steatosis, Elevated circulating...	OMIM:613327
Bacterial Toxic-Shock Syndrome	Diarrhea, Metabolic acidosis, Glomerulonephritis, Tachycardia, Increased circulating lactate conc...	ORPHA:36234
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor, Failure to thrive, Anorexia	ORPHA:79283
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Immunodeficiency 76	Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytopenia, Colitis, T lymph...	OMIM:619164
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Postnatal growth retard...	OMIM:620632
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Abnormality of the urinary system, Gastroesophageal ref...	ORPHA:813
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis	OMIM:606824
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Mitochondrial Complex I Deficiency, Nuclear Type 22	Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:618243
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Follicular hyperplasia, Oral ulcer, Weight loss, Anorexia, Elevate...	OMIM:619381
Ddost-Cdg	Gastroesophageal reflux, Failure to thrive, Dry skin, Hepatic steatosis, Primary hypothyroidism, ...	ORPHA:300536
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Nephrogen...	OMIM:125800
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Temporomandibular joint ankylosis, Feeding difficulties, Micrognathia, Gastrostomy ...	ORPHA:141152
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,...	OMIM:304800
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Keto...	OMIM:210210
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Increased circulating lactate concentration, Hyperglycinemia, Lactica...	OMIM:619063
Neuraminidase Deficiency	Facial edema, Cataract, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides...	OMIM:256550
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased circulating lactate concentration, Vomiting, Small for gestational age, Failure to thri...	OMIM:619147
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Hepatic failure, Intrahepatic cholestasis, Poly...	OMIM:606812
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	OMIM:616878
Glycogen Storage Disease Ic	Inflammation of the large intestine, Xanthelasma, Metabolic acidosis, Hematuria, Hepatoblastoma, ...	OMIM:232240
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis	OMIM:616095
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Intestinal obstruction, Decreased skull ossification, Bow...	ORPHA:666
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, He...	OMIM:257200
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Increased circulating lactate concentration, Failure to thrive, Elevated circulat...	OMIM:616034
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,...	OMIM:619051
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Adrenal calcification, Acute hepatic failure, Hepatosplenome...	OMIM:278000
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut...	ORPHA:2494
Mitochondrial Myopathy With Lactic Acidosis	Increased circulating lactate concentration, Increased serum pyruvate, Elevated serum anion gap, ...	OMIM:251950
Webb-Dattani Syndrome	Gastroesophageal reflux, Retrognathia, Decreased response to growth hormone stimulation test, Obe...	OMIM:615926
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice...	ORPHA:172
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased circulating lactate concentration, Gastroesophageal reflux, Failure to thrive, Decrease...	ORPHA:70472
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Oligohydramnios, Reticulocytosis, Macrocy...	ORPHA:71275
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Intrauterine growth retardation, Open mouth, Thin upper lip vermili...	OMIM:616801
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf...	ORPHA:281090
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Hypocalcemia, Decreased s...	OMIM:602361
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased circulating lactate concentration, Long philtrum, Chronic lactic acidosis, Lactic acido...	OMIM:312170
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip...	ORPHA:93160
Lujo Hemorrhagic Fever	Diarrhea, Lymphopenia, Metabolic acidosis, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Hepatitis, Intrauterine growth ret...	OMIM:620565
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Myopathy, Talipes equinovarus, Cirrhosis, ...	ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Vomiting, Medium chain dicarboxyl...	OMIM:201450
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Acute kidney injury, Hyperphosphatemia, Oliguria, Lower ...	ORPHA:99845
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Trichothiodystrophy 1, Photosensitive	Retrognathia, Hypogonadism, Dry skin, Malabsorption, Intestinal obstruction, Triangular mouth, Sh...	OMIM:601675
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir...	OMIM:300539
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Metabolic acidosis	OMIM:602199
Neurodegeneration With Brain Iron Accumulation 8	Increased circulating lactate concentration	OMIM:617917
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Protracted diarrhea, Lymphopenia, Hepato...	ORPHA:331206
Squalene Synthase Deficiency	Retrognathia, Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterole...	OMIM:618156
Combined Oxidative Phosphorylation Deficiency 28	Increased circulating lactate concentration, Congestive heart failure, Ragged-red muscle fibers, ...	OMIM:616794
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lactic acidosis, Hyperammonemia...	OMIM:253270
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Postnatal growth retardation, Abnorm...	ORPHA:288
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Renal tubular acidosis, Metabolic acidosis, Anterior polar cat...	OMIM:619575
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Short distal phalanx of finger, Cataract, Lymphedema, Renal insufficiency, Hypocalce...	ORPHA:1563
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Metabolic acidosis, Hepatom...	OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Carious teeth, Periodontitis, Xanthelasma, Hepatic...	ORPHA:79259
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Malignant Peritoneal Mesothelioma	Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain	ORPHA:168811
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Christianson Syndrome	Mandibular prognathia, Gastroesophageal reflux, Cachexia, Feeding difficulties in infancy, Dysphagia	ORPHA:85278
Combined Oxidative Phosphorylation Deficiency 31	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Micrognathia, Hy...	OMIM:617228
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Metabolic acid...	OMIM:619445
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, ...	OMIM:277950
X-Linked Agammaglobulinemia	Skin ulcer, Hepatitis, Failure to thrive, Malabsorption, Hypocalcemia, Glossoptosis, Abnormality ...	ORPHA:47
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic ...	OMIM:614739
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis	OMIM:203750
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased circulating lactate concentration, Vomiting, Failure to thrive, Metabolic acidosis, Hyp...	OMIM:618252
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the spleen, Abnormalit...	ORPHA:1834
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons...	OMIM:603233
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased circulating lactate concentration	OMIM:545000
X-Linked Hypophosphatemia	Renal phosphate wasting, Genu valgum, Bowing of the long bones, Hypophosphatemia, Vertebral hyper...	ORPHA:89936
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Aplasia/Hypopl...	ORPHA:290
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Vomiting, Failure to thrive, Lactic acidosis, Metabo...	OMIM:618228
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Hepatic steatosis, Feeding difficult...	OMIM:251880
Familial Expansile Osteolysis	Bowing of the long bones, Hydroxyprolinuria, Osteolysis, Thin bony cortex	OMIM:174810
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, E...	OMIM:617069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Diarr...	ORPHA:71212
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis...	ORPHA:1879
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate...	OMIM:605711
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Constipation, Organic aciduria	ORPHA:35
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Cystic Fibrosis	Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal...	OMIM:219700
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Lymphedema, Hyperlipidemia, Splenomegaly, Portal hypertension, Abnor...	ORPHA:1414
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Hemophagocytosis, Increased circulating ferri...	ORPHA:158057
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased circulating lactate concentration	OMIM:617613
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u...	ORPHA:3416
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Lactic acidosis, Ragged-red muscle fibers, Myopathy, Hypertension, Left...	OMIM:540000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Growth de...	ORPHA:90362
Foxp1 Syndrome	Decreased circulating iron concentration, Mandibular prognathia, Failure to thrive, Downturned co...	ORPHA:391372
Lead Poisoning	Chronic kidney disease, Vomiting, Abdominal distention, Small for gestational age, Imbalanced hem...	ORPHA:330015
Hurler Syndrome	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Mitral regurgitation, Diaphyseal undertu...	OMIM:607014
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Diarrhea, Vomiting, Increased urinary glycerol, Intermittent lactic ...	ORPHA:348
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Cardiogenic Shock	Mitral regurgitation, Metabolic acidosis, Arrhythmia, Elevated jugular venous pressure, Hepatomeg...	ORPHA:97292
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Glycogen Storage Disease Ixa1	Lactic acidosis, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatom...	OMIM:306000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a...	OMIM:614520
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p...	ORPHA:70475
American Trypanosomiasis	Diarrhea, Pallor, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Failure to thrive, Lactic acidosis, Metabolic acidosis, Microvesicular h...	OMIM:615595
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Ascites, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, Splenomegaly, Re...	ORPHA:1046
Autoimmune Hypoparathyroidism	Cataract, Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathy...	ORPHA:36913
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis, Anorexia, Hepatomegaly	ORPHA:86893
Familial Isolated Hypoparathyroidism	Nephropathy, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, H...	ORPHA:2238
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal hip bone morphology, Corneal opacity, Short stature, Hypoplas...	ORPHA:577
Wolman Disease	Vomiting, Failure to thrive, Adrenal calcification, Acute hepatic failure, Splenomegaly, Abdomina...	OMIM:620151
Alexander Disease Type I	Cachexia, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Lactic acidosis,...	OMIM:614458
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemia, 3-hydroxyisovale...	OMIM:210200
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Intrauterine growth retardation, Micrognathia, Tented upper lip vermilion, Thin upper lip vermili...	ORPHA:371364
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester...	OMIM:245900
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Vomiting, Diarrhea, Hyperinsulinemia, Renal tubular dysfunction, Abnor...	OMIM:606528
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Bilateral cleft palate, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma	ORPHA:1473
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Failure to thrive, Feeding difficulties, Broad philt...	OMIM:620045
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Failure to ...	OMIM:614576
Hereditary Fructose Intolerance	Chronic kidney disease, Cataract, Hypermagnesemia, Diarrhea, Vomiting, Renal insufficiency, Hyper...	ORPHA:469
Metatropic Dysplasia	Severe short stature, Cataract, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchon...	ORPHA:2635
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto...	OMIM:176920
Hurler-Scheie Syndrome	Aortic regurgitation, Growth delay, Camptodactyly of finger, Heparan sulfate excretion in urine, ...	OMIM:607015
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Wei...	ORPHA:54251
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Cachex...	ORPHA:1933
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve...	OMIM:619795
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine growth retardation, H...	ORPHA:93324
Glutaric Acidemia Type 3	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketoacidosis, Ketonuria, Abn...	ORPHA:35706
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Retrognathia, Micrognathia, Gingival overgrowth, Thick vermilion border,...	OMIM:618186
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Hepatomegaly,...	OMIM:259720
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Pancytopenia, Pericardial effus...	OMIM:181000
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Moynahan Syndrome	Hypogonadism, Cachexia, Short stature	ORPHA:2574
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Osteopenia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia,...	ORPHA:309288
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H...	OMIM:174000
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Disproportionate short...	OMIM:242900
Familial Dysautonomia	Gastroesophageal reflux, Renal insufficiency, Hyponatremia, Glomerulopathy, Hypohidrosis, Feeding...	ORPHA:1764
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 concentration, Constipation, Hypercholester...	OMIM:301033
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Metabolic acidosis, Neutropenia, Jaundice, Stomatitis, Methylmalonic acidemia,...	ORPHA:79282
Rabin-Pappas Syndrome	Retrognathia, Failure to thrive in infancy, Obesity, Micrognathia, Malar flattening, Hyponatremia...	OMIM:620155
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Monosomy 13Q34	Hematochezia, Epistaxis, Postaxial foot polydactyly, Growth delay, Hypercalcemia, Hepatic steatos...	ORPHA:96168
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur...	OMIM:248600
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Wide mouth, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Thin up...	OMIM:608688
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, Metabolic acidosis, 3-Methylglutaconic aciduria	OMIM:250950
Melnick-Needles Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Hip dislocation, Abnormal cortical bon...	ORPHA:2484
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature	ORPHA:3319
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Pachydermoperiostosis	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Gastrointestinal hemorrhage, Peptic ...	ORPHA:2796
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Skeletal muscle atrophy, Abnormal epiphysis morphology, Abnormal hip bone mo...	ORPHA:970
Williams-Beuren Syndrome	Mitral regurgitation, Chronic constipation, Radioulnar synostosis, Celiac disease, Rectal prolaps...	OMIM:194050
Sialidosis Type 1	Aminoaciduria, Cataract, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharide...	ORPHA:812
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microcornea, Median cleft palate, Corneal opacity	ORPHA:2432
Mucopolysaccharidosis Type 7	Hepatitis, Lymphedema, Ascites, Abnormal hip bone morphology, Epiphyseal stippling, Splenomegaly,...	ORPHA:584
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria, Failure to thrive, La...	OMIM:602473
Combined Oxidative Phosphorylation Deficiency 6	Increased circulating lactate concentration, Increased serum pyruvate, Skeletal muscle atrophy, R...	OMIM:300816
Combined Oxidative Phosphorylation Deficiency 45	Increased circulating lactate concentration, High palate, Failure to thrive	OMIM:618951
Infant Botulism	Xerostomia, Hyponatremia, Constipation, Anorexia, Abdominal pain, Dysphagia, Bowel incontinence	ORPHA:178478
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Abnormal circulating lipid concentration, Micrognathia, Narrow mouth, L...	ORPHA:1979
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Hypocalcemia, Abnorma...	ORPHA:53
Congenital Isolated Acth Deficiency	Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decreased circulati...	ORPHA:199296
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Partial absence of thumb, Chronic constipation, 2-3 toe syndactyly, Ur...	ORPHA:476126
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Genu valgum, Urinary glycosaminoglycan excretion, Talipes equinovar...	OMIM:253220
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased circulating T4 concentration, Abnormality of thyroid physiology, Dry skin, Reduced radi...	ORPHA:95715
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Type I diabetes mellitus, Acute kidney ...	ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 48	Increased circulating lactate concentration, Lactic acidosis	OMIM:619012
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hyperbilirubinemia, Abnormal cortical bone morphology, Renal tubular dysfunction,...	OMIM:614886
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Lymphedema, Ascites, Pancreatic lymphangiectasis, Polyhydramnios, Hyp...	OMIM:235255
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anore...	ORPHA:100079
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le...	ORPHA:98850
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Vomiting, Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH leve...	ORPHA:90790
Developmental And Epileptic Encephalopathy 82	Increased circulating lactate concentration, Hyperammonemia, Decreased body weight, Feeding diffi...	OMIM:618721
Infantile Liver Failure Syndrome 1	Failure to thrive, Acute hepatic failure, Lactic acidosis, Hepatic steatosis, Macrocytic anemia, ...	OMIM:615438
Liddle Syndrome 1	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:177200
Brachyolmia Type 1, Hobaek Type	Osteopenia, Flattened proximal radial epiphyses, Short iliac bones, Disproportionate short-trunk ...	OMIM:271530
Kenny-Caffey Syndrome, Type 1	Small hand, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Dec...	OMIM:244460
Mitochondrial Complex I Deficiency, Nuclear Type 25	Intrauterine growth retardation, Lactic acidosis, Failure to thrive, Feeding difficulties	OMIM:618246
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac...	ORPHA:79444
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Lactic acidosis, Elevated circulating creatine kinase concentrat...	OMIM:618838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, R...	OMIM:617070
Glycogen Storage Disease Ixc	Increased circulating lactate concentration, Postnatal growth retardation, Lactic acidosis, Splen...	OMIM:613027
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ...	OMIM:300635
Flynn-Aird Syndrome	Carious teeth, Skin ulcer, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality ...	ORPHA:2047
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Neutropenia, Metaphyseal dyspla...	ORPHA:175
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Childhood-onset short-trunk short stature, Increased urina...	OMIM:271630
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir...	ORPHA:77259
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Postnatal g...	ORPHA:1655
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Metabolic acidosis...	ORPHA:941
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 23	Increased circulating lactate concentration, Failure to thrive, Intrauterine growth retardation, ...	OMIM:616198
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased circulating lactate concentra...	OMIM:618528
Combined Oxidative Phosphorylation Deficiency 2	Increased circulating lactate concentration, Lactic acidosis, Redundant neck skin, Neonatal death...	OMIM:610498
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lactic acidosis, Elevated circulati...	OMIM:618835
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis, Hyperalaninemia, High palate, Increased serum pyruvate	OMIM:245349
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H...	ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Intrauterine growth retardation, Lactic acidosis, Elevated circulating creatine k...	OMIM:618839
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia, Dehydration	ORPHA:28
Thyrotropin-Releasing Hormone Deficiency	Dry skin, Hypothyroidism, Constipation, Short stature, Hypothalamic hypothyroidism	OMIM:275120
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Abnormal oral cavity morphology, Weight loss, L...	ORPHA:42642
Mitochondrial Phosphate Carrier Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:610773
Hyperkalemic Periodic Paralysis	Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Feeding difficulti...	ORPHA:682
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,...	OMIM:302060
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Macroglossia, Decreased circulating carnitine concentration, Abnormality ...	ORPHA:254864
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac...	ORPHA:79443
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Developmental And Epileptic Encephalopathy 53	Increased circulating lactate concentration	OMIM:617389
Xq28 (MECP2) duplication	Gastroesophageal reflux, Functional abnormality of the bladder, Failure to thrive, Narrow mouth, ...	DECIPHER:45
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis	OMIM:145260
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
19Q13.11 Microdeletion Syndrome	Growth delay, Failure to thrive, Retrognathia, Dry skin, Intrauterine growth retardation, Wide mo...	ORPHA:217346
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Short st...	OMIM:612526
Methanol Poisoning	Type I diabetes mellitus, Diarrhea, Vomiting, Hyperlipidemia, Type II diabetes mellitus, Permanen...	ORPHA:31825
Alpha-Mannosidosis	Cataract, Craniofacial hyperostosis, Type II diabetes mellitus, Splenomegaly, Bowing of the long ...	ORPHA:61
Babesiosis	Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Clinodactyly of the 5th ...	ORPHA:108
Melas	Nephropathy, Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Myopathy, Hypopa...	ORPHA:550
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Renal...	ORPHA:33226
Microvillus Inclusion Disease	Nephrocalcinosis, Diarrhea, Villous atrophy, Metabolic acidosis, Hypovolemia, Abnormal small inte...	ORPHA:2290
Liver Failure, Infantile, Transient	Hypoalbuminemia, Increased circulating lactate concentration, Vomiting, Dicarboxylic aciduria, Hy...	OMIM:613070
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Oligosacchariduria, Congestive heart failure, Keratan sulfate excretion in ...	ORPHA:423461
Smith-Magenis Syndrome	Abnormality of the ureter, Micrognathia, Open mouth, Renal hypoplasia/aplasia, Delayed eruption o...	ORPHA:819
48,Xxyy Syndrome	Broad jaw, Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Thick lower lip ver...	ORPHA:10
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsuline...	ORPHA:276608
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis	OMIM:614265
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Gastroesophageal reflux	OMIM:615401
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Metabolic acidosis, Lactic acidosis, Elevated circulating tiglylglyc...	OMIM:300438
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Vomi...	ORPHA:26793
Pseudohypoparathyroidism, Type Ia	Cataract, Elevated circulating parathyroid hormone level, Short toe, Hyperphosphatemia, Short fin...	OMIM:103580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Increased circulating lactate concentration, Growth delay, Hypertrophic cardiomyopathy,...	OMIM:614052
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,...	OMIM:620211
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Failure to thrive, Ascites, Dry skin, Renal insufficiency,...	OMIM:610965
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth ret...	ORPHA:1765
Fabry Disease	Diarrhea, Lipiduria, Vomiting, Congestive heart failure, Lymphedema, Transient ischemic attack, R...	OMIM:301500
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Chondroitin sulfate excretion in urine, Hypoplasia...	OMIM:253010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, High palate, Macrovesicula...	OMIM:608836
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased circulating lactate concentration, Lactic acidosis, Increased hepatic gl...	OMIM:614946
Riboflavin Transporter Deficiency	Hypogonadism, Cachexia, Diabetes insipidus, Dysphagia	ORPHA:97229
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Glycerol Kinase Deficiency	Muscular dystrophy, Increased circulating lactate concentration, Ketoacidosis, Vomiting, Increase...	OMIM:307030
Eiken Syndrome	Abnormal fingertip morphology, Delayed epiphyseal ossification, Abnormal trabecular bone morpholo...	ORPHA:79106
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarr...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarr...	ORPHA:100082
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Incr...	ORPHA:238329
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, Glomerulonep...	ORPHA:99931
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased circulating lactate concentration	OMIM:615159
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Smith-Magenis Syndrome	Abnormality of the dentition, Abnormality of the urinary system, Velopharyngeal insufficiency, Ev...	OMIM:182290
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Gastroesophageal reflux,...	ORPHA:79243
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Flexion contracture, Increased serum pyruvate,...	OMIM:619224
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Anal fissure, Lymphopenia, H...	OMIM:618935
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Chronic lactic acidosis, Postnatal growth retardation, Ga...	ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased circulating lactate concentration, Lactic acidosis	OMIM:618236
Attrv30M Amyloidosis	Nephropathy, Diarrhea, Cardiomegaly, Constipation, Weight loss, Abnormal renal physiology	ORPHA:85447
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Cyclic Vomiting Syndrome	Vomiting, Pallor, Nausea, Gastrointestinal dysmotility, Anorexia, Abdominal pain, Growth delay	OMIM:500007
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ...	OMIM:613839
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Abdominal distention, Vomiting, Celiac disease, Failure to th...	OMIM:212750
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Flared metaphysis, Pancytopenia, Splenomegaly, Hypocalcemia, Femur fracture, He...	OMIM:259700
Mitochondrial Complex I Deficiency, Nuclear Type 16	Failure to thrive, Intrauterine growth retardation, Adrenal insufficiency, Lactic acidosis, Feedi...	OMIM:618238
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Decreased response to growth hor...	OMIM:609053
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased circulating lactate concentration, Vomiting, Hypertrophic cardiomyopathy, Stage 5 chron...	OMIM:618250
Schaaf-Yang Syndrome	Gastroesophageal reflux, Retrognathia, Hypogonadism, Failure to thrive in infancy, Obesity, Open ...	OMIM:615547
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Vomiting, Intraalveolar phospholipid accumulation, Cholestasis, ...	OMIM:615486
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Increased circulating lactate concentration, Elevated circulating glut...	ORPHA:66634
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, ...	OMIM:612714
D-Glyceric Aciduria	Aminoaciduria, Gastroesophageal reflux, Metabolic acidosis, Bradycardia, Micropenis, Elevated cir...	OMIM:220120
Mitochondrial Complex I Deficiency, Nuclear Type 4	Vomiting, Increased circulating lactate concentration, Increased serum pyruvate, Metabolic acidosis	OMIM:618225
Acute Promyelocytic Leukemia	Gingival bleeding, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Gingival overgrow...	ORPHA:520
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Micrognat...	OMIM:615419
Coenzyme Q10 Deficiency, Primary, 4	Increased circulating lactate concentration, Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:612016
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati...	ORPHA:90795
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Intrauterine growth retardation, Lactic acidosis, Failure to thrive	OMIM:615440
Amish Lethal Microcephaly	Organic aciduria, Cleft soft palate, Metabolic acidosis, Decreased skull ossification, Limb hyper...	ORPHA:99742
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circula...	OMIM:301110
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Bifid uvula, Hyperphosphatemia, Decreased response to growth h...	OMIM:241410
Diastasis Recti And Weakness Of The Linea Alba	Constipation	OMIM:612198
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Lactic acidosis, Splenomeg...	OMIM:616084
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Foxg1 Syndrome	Gastroesophageal reflux, Decreased body weight, Severe postnatal growth retardation, Constipation...	ORPHA:561854
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Rhizomelia, Renal hypoplasia, Short iliac bones, Elevated circulating creatinine concen...	OMIM:614376
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Increased circulating lactate concentration, Hyperalaninemia, Lower limb muscle weakness	OMIM:617950
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, Hi...	ORPHA:423
Adamantinoma	Hypercalcemia	ORPHA:55881
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Hypertrophic cardiomyopathy, Lactic acidosis, Myopathy, Corneal dystrophy	ORPHA:1369
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly, Pyloric stenosis	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh...	OMIM:601847
Cerebrooculofacioskeletal Syndrome 1	Cataract, Joint contracture of the hand, Dehydration, Elbow flexion contracture, Knee flexion con...	OMIM:214150
Cockayne Syndrome	Carious teeth, Absence of pubertal development, Postnatal growth retardation, Delayed eruption of...	ORPHA:191
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anem...	OMIM:611489
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Increased circulating lactate concentration, Dysphagia, Failure to thrive	OMIM:613559
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Failure to thrive, Recurrent urinary tract i...	ORPHA:2970
Harel-Yoon Syndrome	Increased circulating lactate concentration, Distal amyotrophy, Hypertrophic cardiomyopathy, Corn...	OMIM:617183
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia	ORPHA:163596
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Free Sialic Acid Storage Disease	Iris hypopigmentation, Ascites, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wa...	ORPHA:834
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Constipation, Urinary incontinence, Dysphagia	ORPHA:309162
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Pulmonary arterial...	OMIM:619059
Cataract-Nephropathy-Encephalopathy Syndrome	Short stature, Cataract, Renal tubular dysfunction	ORPHA:1380
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, Chronic constipa...	OMIM:253200
Multiple Sulfatase Deficiency	Cataract, Broad thumb, Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Short ...	ORPHA:585
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Bulging...	OMIM:600785
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Type I diabetes mellitus, Proteinuria, Short stature, Anemia, Nephrotic syndrome, Hy...	ORPHA:1192
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic sei...	OMIM:146200
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,...	ORPHA:27
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Athyreosis	Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Short stature, Macroglossia...	ORPHA:95713
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart fail...	OMIM:611126
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Postnatal growth retardation, Spleno...	OMIM:620210
Coenzyme Q10 Deficiency, Primary, 5	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, De...	OMIM:614654
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Short stature	ORPHA:1389
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Osteopenia, Growth delay, Horseshoe kidney, Hypophosphatemic rickets, Hyperph...	OMIM:163200
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:95717
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Growth delay, Fibular bowing, Femora...	OMIM:600081
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Renal insufficiency,...	OMIM:259900
Zellweger Syndrome	Cataract, Multicystic kidney dysplasia, Epiphyseal stippling, Primary adrenal insufficiency, Hydr...	ORPHA:912
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased circulating lactate concentration, Lactic acidosis, Pancreatitis, Dysphagia	OMIM:618230
Nijmegen Breakage Syndrome	Acute leukemia, Anal stenosis, Retrognathia, Anorectal anomaly, Autoimmune hemolytic anemia, Cach...	ORPHA:647
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Thick vermilion border, Tented upper lip vermilion, Decreased serum creatini...	OMIM:618885
Combined Oxidative Phosphorylation Deficiency 38	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:618378
Scorpion Envenomation	Diarrhea, Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Tachyca...	ORPHA:466677
Omenn Syndrome	Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatome...	ORPHA:39041
Helix Syndrome	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi...	OMIM:617671
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Downturned corners of mouth, Micrognathia, Proteinuria, Cachexia	ORPHA:2774
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Renal insufficiency, Pl...	OMIM:619644
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Chronic sinusitis, Abnormal intestine mor...	ORPHA:397596
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Proximal femoral epiphysiolysis, Persistence of hemoglobin...	OMIM:260400
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Adrenal insuf...	OMIM:609981
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Increased circulating lactate concentration, Intrauterine growth ...	OMIM:619055
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Ck Syndrome	High palate, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Narrow mouth, Hyperuricem...	ORPHA:261222
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Tyrosinemia Type 1	Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular...	ORPHA:882
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154275
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased circulating lactate concentration	ORPHA:663
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenom...	OMIM:618495
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Metabolic acidosis, Neutrophilia, Jaundice,...	ORPHA:99829
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros...	OMIM:619487
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leuk...	ORPHA:90033
Multiple Sulfatase Deficiency	Periorbital edema, Broad thumb, Broad hallux, Splenomegaly, Mucopolysacchariduria, Corneal opacit...	OMIM:272200
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Oncogenic Osteomalacia	Renal phosphate wasting, Abnormality of the tarsal bones, Abnormal femur morphology, Fibrous dysp...	ORPHA:352540
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Diarrhea, Vomitin...	ORPHA:91547
Gorham-Stout Disease	Osteopenia, Edema, Cortical irregularity, Abnormal femur morphology, Pleural effusion, Patchy red...	ORPHA:73
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc...	ORPHA:255182
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia, Pallor, Abnormal urinary color	ORPHA:90036
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cataract, Joint contracture of the hand, Palpebral edema, Intrauterine growth reta...	OMIM:214110
Hurler Syndrome	Abnormal epiphysis morphology, Growth delay, Abnormal diaphysis morphology, Camptodactyly of fing...	ORPHA:93473
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Failure to thrive, Everted upper lip vermilion, Pancytopenia, Spl...	OMIM:619824
Fg Syndrome 2	Constipation, Decreased body weight	OMIM:300321
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Lactic acidosis, Bloody diarrhea, Feeding difficulties	OMIM:615119
Optic Atrophy 11	Increased circulating lactate concentration, Splenomegaly, Constipation, Short stature, Mildly el...	OMIM:617302
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Constipation, Feeding difficulties	ORPHA:468620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Camurati-Engelmann Disease	Carious teeth, Craniofacial osteosclerosis, Urinary retention, Delayed eruption of teeth, Hypogon...	ORPHA:1328
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	ORPHA:226313
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Failure to thrive, Malabsorption, Neonatal cholestatic liver disease...	ORPHA:79301
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ...	ORPHA:2097
Emanuel Syndrome	Broad jaw, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Dental crowding,...	OMIM:609029
Spinal Cord Injury	Paralytic ileus, Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Absence of lymph node germinal center, Failure to thrive, Lymphopenia, Sinusitis, B lym...	ORPHA:277
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Renal phosphate wa...	ORPHA:289176
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ...	OMIM:619167
Combined Oxidative Phosphorylation Deficiency 32	Increased circulating lactate concentration, Gastroesophageal reflux, Horseshoe kidney, Lactic ac...	OMIM:617664
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Emanuel Syndrome	Tooth malposition, Micrognathia, Anal atresia, High palate, Dysphagia, Broad jaw, Gastroesophagea...	ORPHA:96170
Adiposis Dolorosa	Obesity, Constipation, Abdominal distention	OMIM:103200
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice...	OMIM:246400
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Gastroesophageal reflux, Long philtrum, Increased body weight, Feeding difficulties in infancy, C...	ORPHA:589905
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Ectopia lentis, Hyperlysinemia, Cystinuria, Anemia, Ornithinuri...	OMIM:238700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Postnatal growth retardation, Esophagitis, Micrognathia, Narrow mouth, Feed...	ORPHA:96182
Caroli Disease	Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Jaundice, Abdominal pain, Polycystic...	ORPHA:53035
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Mulibrey Nanism	Microglossia, Growth delay, Congestive heart failure, Ascites, Intrauterine growth retardation, A...	OMIM:253250
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Malnutrition, Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, C...	OMIM:226600
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Pleural e...	ORPHA:457077
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre...	OMIM:620366
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Increased ...	OMIM:616277
Adult-Onset Still Disease	Erythema, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Incre...	ORPHA:829
3-Methylglutaconic Aciduria Type 7	Cataract, Nephrocalcinosis, Infection associated neutropenia, Increased circulating lactate conce...	ORPHA:445038
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Increased circulating lactate concentration, Glycosuria, Exocrine pancreatic insufficiency, Hyper...	OMIM:616539
Holocarboxylase Synthetase Deficiency	Organic aciduria, Nausea and vomiting, Hyperammonemia, Weight loss, Thrombocytopenia, Anorexia, G...	ORPHA:79242
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Hypothyroidism, Constipation, Short stature, Jaundice	ORPHA:2349
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonatal hypoproteinemia, Stillbirth	OMIM:152800
Muckle-Wells Syndrome	Nephropathy, Vasculitis, Nephrotic syndrome, Renal amyloidosis, Camptodactyly of finger, Recurren...	ORPHA:575
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Vomiting, Cardiomyopathy, Dicarboxylic a...	OMIM:212140
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par...	OMIM:277440
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Int...	ORPHA:1194
Waardenburg Syndrome	Abnormal lip morphology, Intestinal obstruction, Aganglionic megacolon, Orofacial cleft, Abnormal...	ORPHA:3440
Microcephaly, Amish Type	Failure to thrive, Lactic acidosis, Micrognathia, Hepatomegaly, Poor suck	OMIM:607196
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Cholestasis, Decreased circulati...	OMIM:608104
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Arrhythmia, Abnormality of the ki...	ORPHA:85443
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Increased circulating lactate concentration, Skeletal muscle atrophy, Hypertrophic card...	OMIM:615418
Pontocerebellar Hypoplasia, Type 13	Volvulus, Decreased liver function, Failure to thrive, Thick upper lip vermilion, Macrodontia, Th...	OMIM:618606
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc...	ORPHA:3124
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased circulating lactate concentration, Metabolic acidosis	OMIM:617290
Familial Mediterranean Fever	Renal amyloidosis, Diarrhea, Vomiting, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly...	OMIM:249100
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Clinodactyly, Lower limb hypertonia, Postnatal growt...	ORPHA:2169
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive, Lactic acidosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Irida Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating copper concentrati...	ORPHA:209981
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, Increased circulating lactate concentration, 3-Methylglutaconic acidur...	OMIM:617698
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased circulating lactate concentration, Lactic acidosis	ORPHA:139485
Congenital Disorder Of Deglycosylation 1	Small hand, Oral-pharyngeal dysphagia, 3-Methylglutaconic aciduria, Intrinsic hand muscle atrophy...	OMIM:615273
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Pancytopenia, Psoriasiform lesion, Autoimmune thrombocytopen...	OMIM:614700
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Increased circulating cortisol level, Pituitary...	OMIM:131100
Japanese Encephalitis	Neutrophilia, Diarrhea, Vomiting, Hyponatremia, Anorexia, Abdominal pain, Inappropriate antidiure...	ORPHA:79139
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Giant cell hepatitis, Failure to thrive, Hyp...	OMIM:607765
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Failure to thrive, Feeding difficulties	OMIM:618229
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, ...	OMIM:615010
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Failure to thrive, Chronic constipation, Thrombocytopenia, Short stature...	OMIM:616577
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased circulating lactate concentration, Increased serum pyruvate, Hyperalaninemia, Lactic ac...	OMIM:617668
Apparent Mineralocorticoid Excess	Growth delay, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l...	OMIM:218030
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Constipation, Hepatomegaly, Abdominal pain	ORPHA:99745
Benign Paroxysmal Torticollis Of Infancy	Vomiting, Pallor	ORPHA:71518
Stuve-Wiedemann Syndrome 2	Stillbirth, Congestive heart failure, Intrauterine growth retardation, Neonatal death, Bowing of ...	OMIM:619751
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport...	ORPHA:64743
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Megalocornea, Mitral regurgitation, Ta...	OMIM:252500
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties in infancy, Abdominal distention, Neu...	ORPHA:3260
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Congenital Sialidosis Type 2	Cataract, Abnormal EKG, Ascites, Hepatosplenomegaly, Protruding tongue, Polydactyly, Telangiectas...	ORPHA:93400
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Mucopolysaccharidosis Type 1	Abnormal epiphysis morphology, Abnormal tendon morphology, Congestive heart failure, Hypertrophic...	ORPHA:579
Lesch-Nyhan Syndrome	Anemia, Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steatosis, Renal tubular at...	OMIM:617303
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Increased circulating lactate concentration, 3-Methylglutaconic aciduria	ORPHA:505216
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Shallow acetabular fossae, Cardiomyopa...	OMIM:252600
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154276
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Hyperlipidemia, Renal insufficiency, Cong...	OMIM:256300
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Edema, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal circulating...	OMIM:232500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Cholestasis, Hyperbilirubinemia, Dark urine, Metabol...	OMIM:619534
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Fa...	OMIM:615838
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Central hypothyroidism, Cervical lymphade...	ORPHA:514
Acrocephalopolydactyly	Hepatosplenomegaly, Abnormal renal morphology, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Intrauterine growth retardation, Lactic acidosis, Elevated circulating creatine k...	OMIM:618775
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Failure to thrive, Micrognathia, Pallor, Mildly elevated creatine kinase	ORPHA:536516
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Failure to thrive, Extramedullary hematopoiesis, Cholestas...	ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Conjugated h...	OMIM:211600
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Metabolic acidosi...	OMIM:231670
Immunodeficiency 44	Increased circulating lactate concentration	OMIM:616636
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hennekam Syndrome	Chylothorax, Finger syndactyly, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, ...	ORPHA:2136
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubin...	OMIM:611881
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Failure to thrive, Diastema, Decreased response to growth hormone stim...	OMIM:609757
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, 3-Methylglutac...	ORPHA:17
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Elevated circulating parathyroid hormone level, Hype...	OMIM:618618
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat...	ORPHA:100075
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Retrognathia, Long philtrum, Ileus, Micrognathia, Short philtrum, Smooth phi...	OMIM:620156
Prolidase Deficiency	Skin ulcer, Failure to thrive, Micrognathia, Splenomegaly, Petechiae, Prolonged neonatal jaundice...	OMIM:170100
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Congestive heart failure, Normochromic microcy...	OMIM:610198
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Primary Lateral Sclerosis, Juvenile	Pallor, Dysphagia, Pseudobulbar paralysis	OMIM:606353
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemolyt...	OMIM:603909
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Hematuria, Weight loss, Anorexia, Elevated circulating C-reactive protein co...	ORPHA:49041
Mosaic Trisomy 9	Talipes equinovarus, High palate, Hip dislocation, Renal dysplasia, Multiple renal cysts, Corneal...	ORPHA:99776
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Lactic acidosis, Hydroureter, Wide anterior fontanel	OMIM:618240
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:618348
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Gastroesophageal reflux, Failure to thrive, Gastropa...	OMIM:610131
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly...	OMIM:618852
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Feeding difficulties, Gingival overgrowth, Hyperglycinemia, Open mouth,...	OMIM:620423
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Proximal tubulopathy, Diarrhea, Vo...	OMIM:602579
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:615917
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Perrault Syndrome 5	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration, ...	OMIM:616138
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Growth delay, Lymphopenia, Villous atrophy, Autoimmune hemo...	OMIM:614162
Pyle Disease	Genu valgum, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplasia, Reduced bone mineral ...	OMIM:265900
Vici Syndrome	Everted upper lip vermilion, Lymphopenia, Postnatal growth retardation, Micrognathia, Decreased p...	OMIM:242840
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Failure to thrive, Hypogonadism, Dry skin, Decreased serum testoster...	OMIM:201100
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,...	OMIM:256700
3-Methylglutaconic Aciduria, Type Viib	Cataract, Rhizomelia, Increased circulating lactate concentration, Congestive heart failure, Leuk...	OMIM:616271
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, High pa...	OMIM:613658
Rett Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Cachexia, Constipation, Short stature	OMIM:312750
Gaucher Disease	Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive protein concentration, Hepato...	ORPHA:355
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased circulating lactate concentration, Lactic acidosis	OMIM:618239
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocyto...	OMIM:618278
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypospadias, Abnormality of the abdominal organs, Growth delay, ...	ORPHA:2409
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyse...	ORPHA:2788
Caspase 8 Deficiency	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Short stature, Chronic...	OMIM:607271
Pseudo-Torch Syndrome 2	Ascites, Cerebral hemorrhage, Lactic acidosis, Pleural effusion, Abnormal renal corticomedullary ...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Hepatosplenomegaly, Increased LDL cholesterol concent...	OMIM:616828
Drug-Induced Lupus Erythematosus	Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria, Increased bl...	ORPHA:231111
Aromatic L-Amino Acid Decarboxylase Deficiency	Gastroesophageal reflux, Diarrhea, Failure to thrive, Increased circulating prolactin concentrati...	ORPHA:35708
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
B4Galt1-Cdg	Diarrhea, Long philtrum, Splenomegaly, Redundant neck skin, Elevated circulating creatine kinase ...	ORPHA:79332
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Generalized bone demineralization, Ab...	OMIM:215250
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Slender long bone, Abnormal hip bone morphology, Abnormal cortical bone ...	ORPHA:1486
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Elevated urine acetoacetic acid level, Increased circulating lactate concentration, Ske...	OMIM:620089
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Panc...	ORPHA:2072
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Volvulus, Recurrent urinary tract infectio...	ORPHA:847
Galactosialidosis	Corneal opacity	ORPHA:351
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Liddle Syndrome	Nephropathy, Constipation, Renal insufficiency, Hypokalemia	ORPHA:526
Beta-Ureidopropionase Deficiency	Increased circulating lactate concentration, Elevated urinary ureidopropionic acid level, Metabol...	OMIM:613161
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphaden...	OMIM:150550
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Hyperbilirubinemia, Splen...	OMIM:235555
Fg Syndrome Type 1	Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Dental crowd...	ORPHA:93932
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Osteopenia, Unilateral renal agenesis, Postnatal growth retardation, Intrau...	OMIM:616603
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Anemia of inadequate product...	ORPHA:91349
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis, Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Protruding tongue, Absent frontal sinuses, Widely-spaced maxillary ...	OMIM:301040
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Increased hepatic echogenicity, Lactic acidosis, Hepatic steatosis, Renal steatosis, L...	OMIM:261680
Solitary Fibrous Tumor	Urinary retention, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the liver, Constipation, Re...	ORPHA:2126
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infections, Ele...	OMIM:613179
Coenzyme Q10 Deficiency, Primary, 2	Increased circulating lactate concentration, Elevated lactate:pyruvate ratio	OMIM:614651
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Failure to t...	OMIM:619510
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Increased variability in muscle fiber diameter, Lactic acidosis, Increased intramy...	OMIM:619065
Glycogen Storage Disease Ixb	Diarrhea, Growth delay, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatome...	OMIM:261750
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Stomach cancer, Acute lymphoblastic leukemia, Duodenal atresia, Aor...	ORPHA:1052
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Exocrine pancreatic insufficienc...	ORPHA:1333
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Arrhythmia, Short hallux, Cataract, Microcornea,...	ORPHA:2710
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Abnormal spleen morphology, Abnormal pelvis bone morphology, Pleural effusion...	ORPHA:464329
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Increased...	ORPHA:540
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Urethral stricture...	OMIM:226670
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Odontochondrodysplasia 1	Mesomelia, Metaphyseal cupping, Nephronophthisis, Micromelia, Irregular epiphyses, Cone-shaped ep...	OMIM:184260
Gómez-López-Hernández Syndrome	Short stature, Corneal opacity	ORPHA:1532
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Short stature, Bowel i...	ORPHA:702
X-Linked Intellectual Disability, Cabezas Type	Thick lower lip vermilion, Hypogonadism, Open bite, Obesity, Short philtrum, Cachexia, Hyperhidro...	ORPHA:85293
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Gastrointestinal infarction...	ORPHA:91138
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Hemolyt...	ORPHA:529799
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hypohidrosis, Constipation,...	ORPHA:163746
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Tube feeding, Increased circulating lact...	OMIM:619418
Mucolipidosis Iii Gamma	Aortic valve stenosis, Increased serum beta-hexosaminidase, Aortic regurgitation, Genu valgum, Cl...	OMIM:252605
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogo...	OMIM:617575
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P...	ORPHA:101096
Inflammatory Pseudotumor Of The Liver	Vomiting, Biliary tract abnormality, Nausea, Neoplasm of the liver, Cirrhosis, Weight loss, Abdom...	ORPHA:90003
Scheie Syndrome	Aortic regurgitation, Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly	ORPHA:93474
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Genu valgum, Hyperphosphaturia, Pulmonic st...	OMIM:613312
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly...	ORPHA:470
Syndromic Diarrhea	Lymphopenia, Dry skin, Hepatoblastoma, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Abno...	ORPHA:84064
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Genu valgum, Splenomegal...	OMIM:615630
3-Hydroxyisobutyric Aciduria	Long philtrum, Intrauterine growth retardation, Micrognathia, Lactic acidosis, Hypogonadotropic h...	ORPHA:939
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculatu...	ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 59	Increased circulating lactate concentration, Cholelithiasis, Vomiting, Dicarboxylic aciduria, Hyp...	OMIM:620646
Intellectual Developmental Disorder With Autism And Macrocephaly	Constipation, Open mouth, Long philtrum, Overweight	OMIM:615032
Pulmonary Blastoma	Weight loss	ORPHA:64741
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Vomiting, Skeletal muscle atrophy, Growth delay, Concentric hype...	OMIM:252010
Erythrokeratodermia Variabilis	Cataract, Brachydactyly, Corneal opacity, Short stature, Diabetes mellitus, Tapered finger	ORPHA:317
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop...	OMIM:226990
Immunodeficiency 50	Lymphopenia, Neutropenia, Recurrent urinary tract infections	OMIM:300988
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Dica...	OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Metabolic acidosis, Increased urinary glycerol	OMIM:229700
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Failure to thrive, Nausea and vomiting, Redundant neck skin, Hepatomegaly, ...	ORPHA:1842
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy, Anorexia,...	ORPHA:391
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias	OMIM:201710
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased circulating lactate concentration, Vomiting, Failure to thrive, Metabolic acidosis, Fee...	ORPHA:88639
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Retrognathia, Persistence...	OMIM:105650
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis	OMIM:614495
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Feeding difficulties in infancy, Dysphag...	ORPHA:1199
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Growth...	ORPHA:90674
Farber Disease	Hepatic fibrosis, Skeletal muscle atrophy, Short toe, Short finger, Ascites, Hepatosplenomegaly, ...	ORPHA:333
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, Absen...	ORPHA:163979
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Increased total iron binding capacity, Hyperb...	OMIM:616278
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac...	ORPHA:466650
Formiminoglutamic Aciduria	Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia, Abnormal concentratio...	ORPHA:51208
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Talipes equ...	OMIM:611209
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Dilated cardiomyopa...	OMIM:252011
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Oligosacchariduria, Cardiomegaly, Constipation, Thick vermilion border	ORPHA:3137
Mevalonic Aciduria	Cataract, Nuclear cataract, Diarrhea, Vomiting, Fluctuating splenomegaly, Hepatosplenomegaly, Leu...	OMIM:610377
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal polypo...	ORPHA:329971
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,...	ORPHA:440437
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal...	OMIM:155310
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Pallor, Hyperhidrosis	ORPHA:29822
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Cataract, Increased circulating lactate concentration, Elevated lactate:pyruvate r...	OMIM:124000
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Tented upper lip vermilion, Decreased bod...	ORPHA:589821
Coffin-Siris Syndrome 6	High, narrow palate, Gastroesophageal reflux, Retrognathia, Micrognathia, Constipation, Deep phil...	OMIM:617808
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Megalocornea, Pulmonary edema, Hepatomegaly, Tachycardia, Corneal...	ORPHA:137675
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Malabsorption, Eosinophilic infiltration of the esophagus, Re...	OMIM:615508
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I...	OMIM:201810
Mucolipidosis Iv	Abnormal abdomen morphology, Hypergastrinemia, Achlorhydria, Corneal opacity, Opacification of th...	OMIM:252650
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Short...	OMIM:193100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Hypocholesterolemia, Po...	OMIM:618810
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsiflexor w...	OMIM:615883
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestina...	ORPHA:33276
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Mucopolysaccharidosis Type 4	Abnormal epiphysis morphology, Genu valgum, Reduced bone mineral density, Bowing of the long bone...	ORPHA:582
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Hype...	OMIM:604377
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened...	OMIM:218330
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc...	OMIM:201910
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Gastric varix, He...	OMIM:613490
Fryns Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal...	ORPHA:2059
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Tricuspid regu...	OMIM:616501
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Preaxial pol...	OMIM:243605
Stevens-Johnson Syndrome	Erythema, Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Acute hepatic failur...	ORPHA:36426
Familial Renal Glucosuria	Nephropathy, Glycosuria, Moderate postnatal growth retardation, Recurrent urinary tract infection...	ORPHA:69076
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Upper limb undergrowth, Abnormal cortical bone morphology, Short stature, Short...	ORPHA:166277
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction	OMIM:606764
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Failure to elevate ammonia on ischemic exercise, Hyp...	OMIM:232600
Rhyns Syndrome	Chronic kidney disease, Osteopenia, Nephronophthisis, Radial bowing, Decreased response to growth...	OMIM:602152
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Pancytopenia, Genu valgum, Mitral regurgitation, Myopathy, Bilateral coxa val...	ORPHA:309282
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Hypoplastic ilia, ...	ORPHA:85167
Gm1 Gangliosidosis	Gastroesophageal reflux, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abn...	ORPHA:354
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal cupping of metacarpals, Abnormal pelvic girdle bone morphology, Cone-shaped epiphyses...	OMIM:250460
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Myopathy, Elevated circulating creatine kinase concentration, Hem...	OMIM:185070
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Microangiopathic hemolytic anem...	ORPHA:93552
Charcot-Marie-Tooth Disease, Type 4K	Increased circulating lactate concentration	OMIM:616684
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Cartilage-Hair Hypoplasia	Anal stenosis, Absent pubertal growth spurt, Neonatal short-limb short stature, Lymphopenia, Mala...	OMIM:250250
Combined Oxidative Phosphorylation Deficiency 21	Increased circulating lactate concentration	OMIM:615918
Radio-Tartaglia Syndrome	Precocious puberty, High, narrow palate, Gastroesophageal reflux, Dental crowding, Retrognathia, ...	OMIM:619312
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zol...	ORPHA:100078
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ...	ORPHA:2298
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Dysphagia, Cataract, Increased circul...	ORPHA:254892
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Growth delay, Long philtrum, Micrognathia, Renal atrophy, Vesicoureteral reflux, Narrow mouth, Wi...	OMIM:618659
Trichothiodystrophy 3, Photosensitive	Carious teeth, Meckel diverticulum, Failure to thrive, Natal tooth, Lymphopenia, Intrauterine gro...	OMIM:616395
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Polyhydramnios, Hypocalcemia, Short humerus, Talipes equinov...	OMIM:607143
Trichohepatoenteric Syndrome 1	Cholestasis, Narrow mouth, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosuria, Villous ...	OMIM:222470
Den Hoed-De Boer-Voisin Syndrome	Gastroesophageal reflux, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption...	OMIM:619229
Hurler-Scheie Syndrome	Cardiomyopathy, Splenomegaly, Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Short st...	ORPHA:93476
Septo-Optic Dysplasia Spectrum	Dry skin, Obesity, Hypohidrosis, Constipation, Maternal diabetes, Anterior pituitary hypoplasia, ...	ORPHA:3157
Down Syndrome	Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leukemia, Renal hypoplasia/apl...	ORPHA:870
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Kleefstra Syndrome	Everted lower lip vermilion, Hypospadias, Bowel incontinence, Gastroesophageal reflux, Downturned...	ORPHA:261494
Schuurs-Hoeijmakers Syndrome	Volvulus, Downturned corners of mouth, Diastema, Thin upper lip vermilion, Smooth philtrum, Const...	OMIM:615009
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Postnatal growth retardati...	ORPHA:96180
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, Renal insufficiency, Portal h...	ORPHA:440713
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased circulating lactate concentration, Skeletal muscle atrophy, Growth delay, Lactic acidos...	OMIM:619272
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechiae, Nausea and vomiting, Lym...	ORPHA:79477
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Diarrhea, Acute hepatic failure, Cholestasis, Hepatic steatosis, Metabolic acidosis, Cirrhosis, A...	OMIM:256810
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomega...	OMIM:613489
Temple-Baraitser Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Constipation, Thick vermilio...	OMIM:611816
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Vomiting, Gastroesophageal reflux, Failure to thrive, Hypokalemia, Hyponatremia, Feeding difficul...	OMIM:618426
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Gastroesophageal reflux, Failure to thrive, Downturned corners of mouth, Nasogastric tube feeding...	ORPHA:329224
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Genu valgum, Splenomegaly, Mucopolysacchariduria, Disproportionate short-tr...	ORPHA:583
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology, Anorexia	ORPHA:2023
Opsismodysplasia	Renal phosphate wasting, Hypoplastic ischia, Rhizomelia, Metaphyseal cupping, Disproportionate sh...	OMIM:258480
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Diarrhea, Lymp...	ORPHA:436159
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Immunodeficiency 7	Diarrhea, Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	OMIM:615387
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent i...	ORPHA:486
Rauch-Steindl Syndrome	Failure to thrive, Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insuff...	OMIM:619695
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,...	ORPHA:2092
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Long philtrum, Gingival overgrowth, Open ...	ORPHA:420561
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Abnormal circulating protein...	ORPHA:103910
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating creatine kinase concen...	ORPHA:732
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties	OMIM:615085
2Q23.1 Microdeletion Syndrome	Macrodontia, Open mouth, Malar flattening, Tented upper lip vermilion, Constipation, Everted lowe...	ORPHA:228402
Anti-Glomerular Basement Membrane Disease	Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia	ORPHA:375
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan excretion, Hepatomegaly, Dyspha...	ORPHA:581
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Long philtrum, Ascites, Hypocholesterolemia, Villous atrophy,...	OMIM:608776
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Elevated circulating ...	OMIM:611762
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Horsesh...	OMIM:616368
Omenn Syndrome	Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepato...	OMIM:603554
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Polyhydramnios, Hydronephrosis, Wrist flexion contrac...	OMIM:609465
Striatonigral Degeneration, Infantile, Mitochondrial	Increased circulating lactate concentration	OMIM:500003
Paganini-Miozzo Syndrome	Increased circulating lactate concentration, Downturned corners of mouth, Thin vermilion border, ...	OMIM:301025
Combined Oxidative Phosphorylation Defect Type 27	Increased circulating lactate concentration, Dysphagia, Ragged-red muscle fibers, Nonimmune hydro...	ORPHA:477774
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Pulmonary edema, Glomerulonephrit...	ORPHA:340
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Decreased serum testosterone concentration, Portal ...	ORPHA:465508
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia	OMIM:616744
Fucosidosis	Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hypot...	ORPHA:349
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Gastroesophageal reflux, Vomiting, Failure to thrive, Dental malocc...	OMIM:115150
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Pyloric stenosis, Micromelia, Genu valgum, Fibular bowing, Tibial bowing,...	OMIM:613848
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia...	OMIM:610333
Thyroid Dyshormonogenesis 1	Goiter, Dry skin, Constipation, Hypothyroidism, Macroglossia, Growth delay	OMIM:274400
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Femoral b...	ORPHA:174
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt...	OMIM:600901
Cholestasis-Lymphedema Syndrome	Malabsorption, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepat...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Hepatomegaly, Nephrotic syndrome, Osteopenia, Villous atrophy, Nonim...	OMIM:212065
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Delayed menarche, Increased circulating lactate concentration, Skeletal muscle atrophy	ORPHA:330050
Pontocerebellar Hypoplasia, Type 6	Increased circulating lactate concentration, Gastroesophageal reflux, Failure to thrive, Narrow p...	OMIM:611523
22Q11.2 Deletion Syndrome	Arachnodactyly, Talipes equinovarus, Posterior embryotoxon, Hypoparathyroidism, Foot polydactyly,...	ORPHA:567
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Micropenis, Neutropenia, Duplicated collecting system, Leukemia, Ect...	OMIM:227646
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Skeletal muscle atrophy, Clinodactyly, Abnormal circulating lipid concentrat...	ORPHA:488632
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Acholic stools, Nausea and vomiting, Jaundice, Cirrhos...	ORPHA:65682
48,Xxxy Syndrome	Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Hypogonadism, Open bite, Obesi...	ORPHA:96263
Isolated Complex I Deficiency	Proximal tubulopathy, Vomiting, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lac...	ORPHA:2609
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp...	OMIM:227650
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Increased circulating lactate concentration, Hyperprolinemia, Cardiomegaly, Pulmonary arterial hy...	OMIM:619064
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Long philtrum, Thyroid carcinoma, Intestinal polyposis, Micr...	ORPHA:109
Congenital Disorder Of Glycosylation, Type Iibb	Thin vermilion border, Increased circulating lactate concentration, Failure to thrive, Long philtrum	OMIM:620546
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Foot dorsiflexor weakness, Torticollis, Elevated cir...	OMIM:619054
Acquired Methemoglobinemia	Acidosis, Vomiting, Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased circulating lactate concentration	OMIM:301020
Walker-Warburg Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Cataract, Skeletal mus...	ORPHA:899
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia	ORPHA:23
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Increased circulating lactate concentration, Skeletal muscle atrophy, Cardiomyopathy, Intrauterin...	OMIM:617710
Sotos Syndrome	Hip contracture, Talipes equinovarus, Large hands, Abnormality of the kidney, Acute lymphoblastic...	ORPHA:821
Isolated Biliary Atresia	Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Hypo...	ORPHA:30391
Seizures-Scoliosis-Macrocephaly Syndrome	Gastroesophageal reflux, Long philtrum, Constipation, Abnormality of the kidney, Nausea	ORPHA:466926
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Pulmona...	OMIM:601005
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card...	ORPHA:439232
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, F...	OMIM:617616
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lympha...	ORPHA:809
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyly, Metaphyseal widening, Corn...	OMIM:618961
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri...	OMIM:618494
Infantile Dystonia-Parkinsonism	Constipation, Gastroesophageal reflux, Feeding difficulties, Abnormal circulating carboxylic acid...	ORPHA:238455
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Abnormality of the urinary system, Growth delay, Ureteral stenos...	ORPHA:2719
Jansen-De Vries Syndrome	Vomiting, Gastroesophageal reflux, Thin upper lip vermilion, Constipation, Short stature, Wide mo...	OMIM:617450
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Tubulointerstitial fibrosis, Hepatomegaly, Polycystic kidney dysplasia, Esophagea...	OMIM:263200
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Abnormality of the urinary system, Dental malocclusion, Pursed lips, Long p...	ORPHA:800
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Diarrhea, Vomiting, Abnormal EKG, Elevated ...	ORPHA:230
Wolfram Syndrome	Nephropathy, Male hypogonadism, Abnormality of the urinary system, Gastrointestinal hemorrhage, R...	ORPHA:3463
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Weight loss,...	ORPHA:90060
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Corneal opacity, Decreased HDL cholesterol concen...	ORPHA:79292
Leukodystrophy, Hypomyelinating, 4	Increased circulating lactate concentration, Flexion contracture, Ethylmalonic aciduria	OMIM:612233
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Gastroesophageal reflux, Failure to thrive in infancy, Micrognathia...	OMIM:618829
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel so...	ORPHA:100080
Mucopolysaccharidosis, Type Ii	Severe short stature, Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick l...	OMIM:309900
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep...	OMIM:613812
Narcolepsy Type 1	Precocious puberty, Obesity, Constipation, Hyperhidrosis, Nocturia	ORPHA:2073
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Osteop...	OMIM:612287
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Cachexia, Everted lower lip...	ORPHA:2058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ventricula...	OMIM:613153
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Increased circulating lactate concentration, Failure to thrive, Decreased liver ...	OMIM:618329
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar...	OMIM:620501
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc...	OMIM:227645
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypoparathyroidism, Abnormality of the medullary cavity ...	OMIM:127000
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so...	OMIM:301068
Wilson Disease	Hepatitis, Failure to thrive, Acute hepatic failure, Acute hepatitis, Hepatic steatosis, Splenome...	ORPHA:905
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Constipation, Wide mouth, Downturned corners of mouth	OMIM:273390
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Mitral regurgitation, Talipes equinovarus, Hepatomegaly, Jaundic...	OMIM:614866
Toxic Epidermal Necrolysis	Erythema, Gastrointestinal hemorrhage, Abnormality of the urethra, Skin ulcer, Acute hepatic fail...	ORPHA:537
Classic Mycosis Fungoides	Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:2584
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia, Gastrostomy tube feeding in infancy	ORPHA:300605
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer	ORPHA:3217
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased circulating lactate concentration...	OMIM:614388
Rheumatic Fever	Erythema, Nausea and vomiting, Pallor, Sinusitis, Abdominal pain, Constipation, Anorexia, Nephrot...	ORPHA:3099
Peroxisome Biogenesis Disorder 8B	Failure to thrive, Decreased liver function, Elevated circulating phytanic acid concentration, Co...	OMIM:614877
Pseudo-Torch Syndrome 1	Cleft lip, Microretrognathia, Failure to thrive, Decreased liver function, Long philtrum, Renal i...	OMIM:251290
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia...	OMIM:275350
Glutathionuria	Urinary incontinence, Constipation, Glutathionuria	OMIM:231950
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Tricuspid regurgitation, Portal hypertensi...	OMIM:616589
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Growth delay, Failure to thrive, Decreased liver function, Retrognathia,...	OMIM:608779
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Angioedema, Ascites, Renal insufficiency, Splenomegaly, Pleural effusion, Hematuria, Pr...	ORPHA:36412
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Skeletal muscle ...	OMIM:616239
Coenzyme Q10 Deficiency, Primary, 7	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Intrauterine growth ret...	OMIM:616276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Diarrhea, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Aut...	OMIM:616100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Flexion contracture of finger, Micropenis, Short foot, Hypospadias, Duoden...	ORPHA:464311
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Diarrhea, Splenomegaly, Recurrent sinusitis, Decreased proportion of class...	OMIM:607594
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Failure to thrive, Decreased response to g...	ORPHA:363528
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala...	ORPHA:2256
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Bowing of the long bones, High palate, Flat acetabular roof, Hypospadias, P...	OMIM:614091
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Skeletal muscle atrophy, Splenomegaly, Flared iliac wing, Hepatomegaly, O...	OMIM:230650
49,Xxxxy Syndrome	Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Hypogonadism, Open bite, Abnor...	ORPHA:96264
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Dental crowding, Urinary retention, Widely spaced teeth, Dry skin, Chron...	OMIM:617799
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Gastroesophageal reflux, Failure to thrive, Downturned corners of mouth, Widely spaced teeth, Ope...	OMIM:617865
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Juvenile Sialidosis Type 2	Cataract, Visceromegaly, Hepatosplenomegaly, Protruding tongue, Abnormality of the kidney, Cornea...	ORPHA:93399
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Enteric Anendocrinosis	Cholestatic liver disease, Type I diabetes mellitus, Vomiting, Diarrhea, Malabsorption, Portal hy...	ORPHA:83620
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Serotonin Syndrome	Acute kidney injury, Mydriasis, Hypotension, Diarrhea, Lactic acidosis, Rhabdomyolysis, Nausea, H...	ORPHA:43116
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria, Ketoacidosis	OMIM:222100
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Trisomy 18	Narrow palate, Microretrognathia, Intrauterine growth retardation, Narrow mouth, Hydronephrosis, ...	ORPHA:3380
Myopathy, Mitochondrial, And Ataxia	Growth delay, Increased circulating prolactin concentration, Micrognathia, Pallor, Elevated circu...	OMIM:617675
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Abnormal circulating calcium-phosphate regulating hormone concentr...	ORPHA:1031
Achondrogenesis Type 2	Cataract, Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ...	ORPHA:93296
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Constipation, Feeding difficulties	OMIM:620094
Hijazi-Reis Syndrome	Gastroesophageal reflux, Postnatal growth retardation, Hyperbilirubinemia, Chronic constipation, ...	OMIM:301094
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Portal hypertension, Aganglionic ...	OMIM:609136
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Hypospadias...	ORPHA:464306
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Petechiae, Splenomegaly,...	OMIM:619463
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Nephrolithias...	OMIM:617219
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Generalized edema, St...	OMIM:615244
Leber Optic Atrophy And Dystonia	Increased circulating lactate concentration	OMIM:500001
Gnathodiaphyseal Dysplasia	Bowing of the long bones, Osteopenia, Thickened cortex of long bones	ORPHA:53697
Combined Oxidative Phosphorylation Deficiency 54	Increased circulating lactate concentration, Microretrognathia, Obesity, Intrauterine growth reta...	OMIM:619737
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Hi...	OMIM:147060
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-positive helper T c...	ORPHA:443811
Arima Syndrome	Hepatic fibrosis, Postaxial foot polydactyly, Nephronophthisis, Growth delay, Stage 5 chronic kid...	OMIM:243910
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Hepatic...	ORPHA:400
Biotinidase Deficiency	Diarrhea, Vomiting, Organic aciduria, Hyperammonemia, Splenomegaly, Feeding difficulties in infan...	OMIM:253260
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Pancy...	OMIM:613385
19P13.3 Microduplication Syndrome	Precocious puberty, Gastroesophageal reflux, Intrauterine growth retardation, Micrognathia, Narro...	ORPHA:447980
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Failure to thrive, Long philtrum, Retrognathia, Decreased response to growth...	ORPHA:485405
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, HbH hemoglobin, Microcytic anemia, Talipes equinovarus, High palate, Short stature, Fl...	ORPHA:98791
Infantile Krabbe Disease	Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan...	ORPHA:206436
Morquio Syndrome C	Severe short stature, Corneal opacity	OMIM:252300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Vomiting, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, A...	OMIM:617780
Malt Lymphoma	Abnormality of the thyroid gland, Nausea and vomiting, Constipation, Weight loss, Hyperhidrosis, ...	ORPHA:52417
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Abdominal pain, Elevated...	OMIM:615688
Auriculocondylar Syndrome 2B	Long penis, Failure to thrive, Postnatal growth retardation, Micrognathia, Narrow mouth, Chronic ...	OMIM:620458
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Long-Olsen-Distelmaier Syndrome	Cataract, Increased circulating lactate concentration, Microspherophakia, Dilated cardiomyopathy,...	OMIM:620609
Tangier Disease	Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat...	OMIM:205400
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Metabolic acidosis, Pulmonary edema, Pancreatitis, Diabetic ketoa...	ORPHA:70578
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Hyperhidrosis, Constipation	OMIM:615548
Developmental And Epileptic Encephalopathy 51	Increased circulating lactate concentration, Failure to thrive, Constipation, Feeding difficultie...	OMIM:617339
Neurodevelopmental Disorder With Dystonia And Seizures	Intrauterine growth retardation, Constipation, Hyperhidrosis, Feeding difficulties	OMIM:619922
Deeah Syndrome	Narrow mouth, Decreased circulating free T3, Chronic constipation, Decreased body weight, Anterio...	OMIM:619004
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Hypospadias, Episp...	ORPHA:2658
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli...	OMIM:618126
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
13Q12.3 Microdeletion Syndrome	Vomiting, Failure to thrive, Obesity, Intrauterine growth retardation, Malar flattening, Oligodon...	ORPHA:412035
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Diarrhea, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Lymph...	OMIM:240500
Retinitis Pigmentosa 51	Obesity, Pallor, Abnormality of the kidney	OMIM:613464
Takayasu Arteritis	Skin ulcer, Gastrointestinal infarctions, Weight loss, Hyperhidrosis, Anorexia, Anemia	ORPHA:3287
Smith-Lemli-Opitz Syndrome	Micrognathia, Hepatic steatosis, Cirrhosis, Abdominal distention, Duplicated collecting system, H...	OMIM:270400
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Oligohydramnios, Congenital diaphragmatic hernia, Decreased skull ossificati...	OMIM:263210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased circulating lactate concentration, Skeletal muscle atrophy, Lower limb muscle weakness,...	OMIM:616479
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Acute hepatic failure, Renal insufficiency, Eosinophilia, Lymphocytosis, Wei...	ORPHA:139402
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Edema, Anasarca, Renal insuffic...	OMIM:254900
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite	ORPHA:2221
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Feeding difficulties,...	ORPHA:79644
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly, Short stature	OMIM:231000
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia, Nausea and vomiting, Cachexia, Dysphagia	ORPHA:803
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain	ORPHA:168816
Recessive Dystrophic Epidermolysis Bullosa Inversa	Abnormality of the urinary system, Esophageal stricture, Urethral stricture, Mitten deformity, Ga...	ORPHA:79409
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Diarrhea, Hepatitis, Increased circulating ferritin concentrati...	OMIM:615846
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,...	OMIM:613824
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Vomiting, Hypertrophic cardiomyopathy, Lactic acidosis, Hyperglycinemia, ...	OMIM:614299
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Constipation, Feeding difficulties	OMIM:614254
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Cholestasis, Decreased circulating T4 concentration, Hepatomegaly, Polycystic kidney dysplasia, O...	OMIM:610199
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Intrauterine growth retardation, Constipation, Hyperhidrosis, Urinary incontin...	OMIM:604320
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy	ORPHA:254930
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Diarrhea...	OMIM:162300
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contr...	ORPHA:70
Gaucher Disease, Perinatal Lethal	Hepatic failure, Everted upper lip vermilion, Retrognathia, Ascites, Intrauterine growth retardat...	OMIM:608013
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased circulating lactate concentration, Retrognathia, Long philtrum, Failure to thrive in in...	OMIM:619026
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Increased circulating lactate concentration, Skeletal muscle atrophy, Growth delay	OMIM:614932
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy...	ORPHA:1349
Leigh Syndrome, Nuclear	Increased circulating lactate concentration, Lactic acidosis, Failure to thrive, Hepatocellular n...	OMIM:256000
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Long philtrum, Retrognathia, Intraut...	ORPHA:73246
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Cholelithiasis, Elevated circulating uroporphyrin conc...	OMIM:263700
Optic Atrophy 1	Pallor	OMIM:165500
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu...	OMIM:171400
Polyarteritis Nodosa	Erythema, Skin ulcer, Abnormality of the gastrointestinal tract, Weight loss, Abnormality of the ...	ORPHA:767
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Diarrhea, Vomiting, Growth delay, Elevated circulating creatinine concen...	OMIM:223900
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Viral hepatit...	ORPHA:101330
Cinca Syndrome	Growth delay, Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Elevated circulating...	ORPHA:1451
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Gastroesophageal reflux, Downturned corners of mouth, Thick upper lip vermilion, Intrauterine gro...	OMIM:617360
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Lesch-Nyhan Syndrome	Nephrocalcinosis, Vomiting, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia...	OMIM:300322
Refsum Disease	Cataract, Skeletal muscle atrophy, Abnormal epiphysis morphology, Cardiomyopathy, Heart block, Re...	ORPHA:773
Alkaptonuria	Aortic valve stenosis, Dark urine, Black pigment gallstones, Mitral regurgitation, Prostatitis, T...	ORPHA:56
Congenital Disorder Of Glycosylation, Type Ir	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Chronic constipation	OMIM:614507
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Macrocephaly/Autism Syndrome	Long philtrum, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, C...	OMIM:605309
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Incr...	OMIM:608940
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C...	ORPHA:84085
Kniest Dysplasia	Enlarged metaphyses, Cataract, Delayed epiphyseal ossification, Disproportionate short stature, D...	ORPHA:485
Peroxisome Biogenesis Disorder 1A (Zellweger)	Protruding tongue, Talipes equinovarus, Hepatomegaly, High palate, Brushfield spots, Dysphagia, A...	OMIM:214100
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Growt...	OMIM:216360
Thyrotoxic Periodic Paralysis	Lower limb muscle weakness, Rhabdomyolysis, Transient hypophosphatemia, Ventricular fibrillation,...	ORPHA:79102
Nephroblastoma	Nephroblastoma, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain	ORPHA:654
Mietens Syndrome	Severe short stature, Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:2557
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Downturned corners of mouth, Anteriorly placed anus, Cleft upper lip, Abnormal rectum morphology,...	OMIM:239300
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Protracted diar...	ORPHA:97287
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Disproportionate short-limb short s...	OMIM:222600
Citrullinemia, Classic	Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hy...	OMIM:215700
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Weight loss, Elevated circulati...	ORPHA:324964
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Noonan Syndrome 12	Anteriorly placed anus, Decreased response to growth hormone stimulation test, Lymphopenia, Feedi...	OMIM:618624
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased circulating lactate concentration, Failure to thrive, Feeding difficulties	OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased circulating lactate concentration, Hyperprolinemia, Cardiomegaly, Hyperalaninemia, Limb...	OMIM:619170
Combined Oxidative Phosphorylation Deficiency 12	Increased circulating lactate concentration, Failure to thrive, Cholestasis, Lactic acidosis, Hep...	OMIM:614924
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Myopathy, Weakness of facial musculature, Sutural cataract, Episodic metabolic ac...	OMIM:201470
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Increased serum bile a...	ORPHA:811
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Abnormal cortical bone morpholo...	ORPHA:1525
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Slender build, Chronic constipation, High palate, Mandibular prognathia	OMIM:300676
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Mucopolysacchariduria, Short stature, Generalized osteoporosis, Opacification of the...	OMIM:184095
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Heart murmur, Hypocalcemia, Submucous c...	ORPHA:3426
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Vo...	OMIM:308940
Dyskeratosis Congenita	Carious teeth, Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esoph...	ORPHA:1775
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Gastroesophageal reflux, Downturned corners of mouth, Retrognathia, Widely...	OMIM:156200
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Chr...	OMIM:618394
Argininemia	Vomiting, Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Postnatal growth ...	OMIM:207800
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Decreased...	OMIM:603467
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Increased circulating lactate concentration, Cardiomyopathy, Hypogonadism, Abnormality ...	OMIM:609286
Digeorge Syndrome	Intervertebral disk degeneration, Hepatic steatosis, Posterior embryotoxon, High palate, Renal dy...	OMIM:188400
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Intracranial hemorrhage, Joint swell...	ORPHA:169802
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Increased circulating lactate concentration, Hypospadias	OMIM:618972
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Cataract, Focal s...	OMIM:251300
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Microcornea, Mild intrauterine growth retardation, Increased HbA2 hemog...	OMIM:616943
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Growth delay, Congenital diaphragmatic hernia, Macrocytic anemia, ...	OMIM:613309
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Abnormal hip bone morphology, Short ...	ORPHA:2522
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Increased circulating lactate concentration, Intrauterine growth retar...	ORPHA:319514
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Microdontia, Thin upper lip vermilion, Br...	OMIM:618027
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer...	ORPHA:79408
Mucopolysaccharidosis Type 2, Severe Form	Growth delay, Cardiomyopathy, Camptodactyly of finger, Heparan sulfate excretion in urine, Hepato...	ORPHA:217085
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Avascular...	ORPHA:93308
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Increased circulating lactate concentration, Short tib...	OMIM:620306
Caffey Disease	Cortical thickening of long bone diaphyses, Cortical irregularity, Periosteal thickening of long ...	ORPHA:1310
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Decreased liver function, Increased circulating ferritin conce...	ORPHA:158061
Brucellosis	Hypersplenism, Weight loss, Glomerulonephritis, Anorexia, Elevated circulating C-reactive protein...	ORPHA:1304
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Hepatitis, Failure to thrive secondary to recurrent infections, Protracted diarrhea, Ly...	ORPHA:169160
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Gastroesophageal reflux, Growth delay, Widely spaced teeth, Narrow mouth, Malar flattening, Chron...	OMIM:300260
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Edema, Horsesho...	OMIM:120330
White-Sutton Syndrome	Bifid uvula, Mandibular prognathia, Gastroesophageal reflux, Failure to thrive, Downturned corner...	OMIM:616364
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Postaxial polydactyly, Brachydactyly, Short long bone, Polyhydramnios	OMIM:615633
Systemic Capillary Leak Syndrome	Oliguria, Diarrhea, Leukocytosis, Renal insufficiency, Abnormal renal tubule morphology, Pancreat...	ORPHA:188
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepato...	OMIM:617388
Congenital Heart Block	Intrauterine growth retardation, Feeding difficulties in infancy, Pallor, Hyperhidrosis	ORPHA:60041
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urin...	OMIM:253000
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Pallor, Splenomegaly, Hypocalcemia, H...	ORPHA:667
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Failure to thrive, Downturned corners of mouth, Intestinal malrot...	OMIM:617602
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ...	ORPHA:760
Mucopolysaccharidosis Type 2, Attenuated Form	Growth delay, Cardiomyopathy, Camptodactyly of finger, Heparan sulfate excretion in urine, Hepato...	ORPHA:217093
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Constipation, Downturned corners of mouth, Feeding difficulties	OMIM:616708
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Medullary thyroid carc...	ORPHA:1332
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Broad long bone diaphyse...	ORPHA:79255
Acute Liver Failure	Acidosis, Acute kidney injury, Alkalosis, Gastrointestinal hemorrhage, Hepatitis, Hypotension, He...	ORPHA:90062
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Wiedemann-Steiner Syndrome	Failure to thrive, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, ...	OMIM:605130
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, He...	ORPHA:2905
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Myocardial infarction, Delayed puberty, Short stature, Hip dysplasia, Ane...	OMIM:208060
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Intrauterine growth retardation, Micrognathia, Chronic constipation, Decreased b...	OMIM:619005
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Growth delay, Long philtrum, Gingival overgrowth, Chronic constipation, Proteinuria, Smooth philt...	OMIM:619428
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Growth delay, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine ...	ORPHA:93325
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Failure to thrive, Long philtrum, Retrognathia, Intrauterine growth retardation, Chronic constipa...	OMIM:617452
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Dry skin, Micrognathia, Open mouth, High palate, Obesity, Thin upper l...	OMIM:620654
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Cleft lip, Functional abnormality of the bladder, Microretrognathia, ...	ORPHA:2953
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Smooth philtrum, Constipation, Short stature, High palate	OMIM:618480
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Increased tota...	ORPHA:2137
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Failure to thrive, Downturne...	ORPHA:2131
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Diarrhea, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia...	OMIM:102700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture of metaphysis, Disproportionat...	ORPHA:93315
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, Failure to thrive, Gingival overgrowth, Narrow mouth, Chronic constipati...	OMIM:616977
Wild Type Attr Amyloidosis	Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Gastrointestinal dysmotilit...	ORPHA:330001
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Congestive hear...	ORPHA:746
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros...	ORPHA:449395
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hepatic steatosis, Hy...	OMIM:212138
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Po...	OMIM:618541
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type II diabetes mellitus, Dela...	ORPHA:100
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Johanson-Blizzard Syndrome	Edema, Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardation...	ORPHA:2315
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epip...	OMIM:613091
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Oral ulcer, Neutropenia, Hepatomegaly, High palate, Erythroid hy...	OMIM:612541
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Subcapsular cataract, H...	OMIM:203800
Immunodeficiency 9	Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogen...	OMIM:612782
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Hydronephrosis, Short stature, ...	ORPHA:96061
Congenital Syphilis	Cataract, Periostitis, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Int...	ORPHA:499009
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Rickets, Diarrhea, Vomiting, Polyuria, Hepatomega...	OMIM:560000
Immunodeficiency 10	Hypoplasia of the iris, Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic an...	OMIM:612783
Hepatoerythropoietic Porphyria	Osteopenia, Red-brown urine, Purple urine, Osteolysis, Erythroid hyperplasia, Abnormal circulatin...	ORPHA:95159
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Megalocornea, Subluxation of the small joints of the hand, Dysplasia of th...	ORPHA:536471
Developmental Delay, Hypotonia, And Impaired Language	Feeding difficulties, Gastroesophageal reflux, Neutropenia, Constipation	OMIM:620012
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Finger syndactyly, Camptodactyly of finger, Short 5th metaca...	ORPHA:2908
Developmental And Epileptic Encephalopathy 90	Abdominal pain, Hypothyroidism, Fetal pyelectasis, Constipation	OMIM:301058
Mucopolysaccharidosis, Type Iiib	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga...	ORPHA:1018
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dy...	OMIM:208540
Spastic Paraplegia 54, Autosomal Recessive	Constipation, Short stature, Urinary incontinence, High palate, Dysphagia, Bowel incontinence	OMIM:615033
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting...	ORPHA:91347
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, High palate, Short meta...	OMIM:608328
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Neoplasm of the stomach, Intussusception, Failure to thr...	OMIM:174900
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effu...	ORPHA:2414
Pitt-Hopkins Syndrome	Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Failure to th...	ORPHA:2896
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp...	ORPHA:284
Kaufman Oculocerebrofacial Syndrome	Carious teeth, Failure to thrive, Diastema, Intestinal malrotation, Hypocholesterolemia, Microgna...	OMIM:244450
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss, Diabetes insipidus, Growth delay	ORPHA:30925
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Constipation, Abdomin...	ORPHA:3375
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri...	OMIM:300972
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphology, Autoimmune thrombocytop...	ORPHA:391487
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Fatal Familial Insomnia	Urinary retention, Weight loss, Constipation, Hyperhidrosis, Dysphagia	OMIM:600072
Atelosteogenesis Type I	Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, P...	ORPHA:1190
Poliomyelitis	Vomiting, Paralytic ileus, Anorexia, Absent tonsils, Nausea, Dysphagia	ORPHA:2912
3Mc Syndrome 3	Growth delay, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Diastasis recti, Radioulnar s...	OMIM:248340
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Nodular Non-Suppurative Panniculitis	Erythema, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Abdominal pain	ORPHA:33577
Polycythemia Vera	Early satiety, Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leuk...	ORPHA:729
Pediatric-Onset Graves Disease	Diarrhea, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Goiter,...	ORPHA:525731
Bartsocas-Papas Syndrome	Popliteal pterygium, Toe syndactyly, Absent thumb, Finger syndactyly, Renal hypoplasia/aplasia, C...	ORPHA:1234
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Volvulus, H...	OMIM:301111
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Lactic acidosis	OMIM:618241
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Renal insufficiency, Hypocalcemia, Vesicourete...	ORPHA:2237
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Macroglossia, Gastroesophageal reflux, Failure to thrive, Downturned corners of mout...	ORPHA:453499
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Talipes equinovarus, Short...	OMIM:618845
Combined Oxidative Phosphorylation Deficiency 27	Increased circulating lactate concentration, Failure to thrive, Hyperammonemia, Microvesicular he...	OMIM:616672
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Pelvic mass, Anorexia, Ascites, Elevated carcinoma antigen 125 level, Nausea ...	ORPHA:370348
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Diarrhea, Cholestasis, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Jaundice, Elevated...	OMIM:620376
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Chronic constipation, Feeding difficul...	OMIM:618825
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho...	ORPHA:100026
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth	OMIM:618107
Agel Amyloidosis	Cataract, Tongue atrophy, Xerostomia, Cardiomyopathy, Stage 5 chronic kidney disease, Blepharocha...	ORPHA:85448
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Failure to thrive, Long philtrum, Retrognathia, Intrauterine growth retardation, Chronic constipa...	ORPHA:505237
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Aniridia, Corneal opacity, Short stature, Craniosynostosis, Developmen...	ORPHA:1064
Nizon-Isidor Syndrome	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Open mouth, Narrow mou...	OMIM:618872
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Increased circulating lactate concentration, Hyperalaninemia, Short stature, Micropenis, Tube fee...	OMIM:619847
Lethal Recessive Chondrodysplasia	Micromelia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bon...	ORPHA:1423
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia,...	OMIM:207900
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Gastrointestinal hemorrhage, Bone marrow hypocellularity, Aplastic anemia, Oral leuko...	OMIM:613990
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Neonatal death, Short palm, Hepatomegaly, Short foot, Short toe, Hamartoma ...	OMIM:269860
Pyridoxine-Dependent Epilepsy	Lactic acidosis, Feeding difficulties	ORPHA:3006
Craniofacioskeletal Syndrome	Small hand, Intrauterine growth retardation, Absent gallbladder, Hypocalcemia, Hydronephrosis, Cl...	OMIM:300712
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, H...	ORPHA:1692
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Diarrhea...	ORPHA:276
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Angelman Syndrome	Mandibular prognathia, Precocious puberty in females, Gastroesophageal reflux, Vomiting, Nasogast...	ORPHA:72
Kapur-Toriello Syndrome	Failure to thrive, Intestinal malrotation, Orofacial cleft, Constipation, Hypoplasia of penis	ORPHA:2328
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Pleural effusion, Elevated c...	OMIM:232300
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration, Hyperalaninemia, Myopathy	ORPHA:254881
Stüve-Wiedemann Syndrome	Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion contracture of finger, Osteop...	ORPHA:3206
Zygomycosis	Diarrhea, Ileitis, Neutropenia, Periorbital edema, Gastrointestinal hemorrhage, Renal insufficien...	ORPHA:73263
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinu...	OMIM:618882
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Protruding tongue, Limb undergrowth, Thin bony cortex, Hepa...	OMIM:230600
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Downturned corners of mouth, Obesity, Open mouth, Tented upper lip vermilion, Thin upper lip verm...	OMIM:618430
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Gaucher Disease Type 3	Growth delay, Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Pulmonary arteria...	ORPHA:77261
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Clinodactyly, Abno...	OMIM:616541
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Increased variability in muscle fiber diameter, Increased circulating lactat...	OMIM:612949
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Lathosterolosis	Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Intrahepatic cholestasis, Hors...	ORPHA:46059
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopen...	ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Diarrhea, Portal fibrosis, Portal inflammation, Ascites, Malabsorption,...	OMIM:602347
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Widely spaced teeth, Obesity, Chronic constipation, Short stature, W...	OMIM:619056
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Gastroesophageal reflux, Pursed lips, Long philtrum, Micrognathia, Narrow mouth, Smooth philtrum,...	ORPHA:562528
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Cystic Fibrosis	Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Exocrine pancreatic insuff...	ORPHA:586
Hereditary Bullous Dystrophy, Macular Type	Cataract, Short finger, Corneal opacity, Short stature, Heart murmur, Growth delay, Tapered finger	ORPHA:1867
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short 5th finger, Increased circulating lactate concentration, Short 5th toe, Short 4th toe, Shor...	OMIM:619060
Adiposis Dolorosa	Diarrhea, Xerostomia, Dry skin, Obesity, Hypothyroidism, Constipation	ORPHA:36397
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Increased urina...	OMIM:252150
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, Decreased skull ossifi...	ORPHA:3472
Chromosome Xq13 Duplication Syndrome	Intrauterine growth retardation, Chronic constipation, Thin upper lip vermilion, Autoimmune throm...	OMIM:301069
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre...	OMIM:301078
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension	ORPHA:3222
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Abnormality of the gastrointestinal tract, Weight loss, Elevated...	ORPHA:2902
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Cockayne Syndrome Type 1	Cataract, Male hypogonadism, Diarrhea, Foot joint contracture, Postnatal growth retardation, Rena...	ORPHA:90321
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short long bone, Short...	OMIM:613819
Charge Syndrome	Lymphopenia, Postnatal growth retardation, Absent radius, Hypoparathyroidism, Bilateral talipes e...	OMIM:214800
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Hepatic failure, Cholelithiasis, Villous atrophy, Hyperlipidemia, Splenomegaly,...	ORPHA:567983
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Neoplasm of the ...	ORPHA:99867
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Widely-spaced maxillary central incisors, Intrauterine growth retardation, Micrognathia, Wide mou...	ORPHA:363686
Angiostrongyliasis	Vomiting, Hypereosinophilia, Nausea, Constipation, Abdominal pain, Gastrointestinal eosinophilia,...	ORPHA:74
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Gastroesophageal reflux, Failure to thrive, Micrognathia, Chronic constipation, Short philtrum, T...	OMIM:300986
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Absence of lymph node germinal center, Hepatitis, Failure to thrive, Chronic hepatitis,...	OMIM:308230
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Micrognathia, Ab...	ORPHA:404440
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Hypo...	ORPHA:3010
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre...	OMIM:263400
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Lissencephaly 7 With Cerebellar Hypoplasia	Hand clenching, Increased circulating lactate concentration, Lymphedema, Neonatal death, Arthrogr...	OMIM:616342
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerati...	OMIM:620454
Wagro Syndrome	Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity, Hypertension	OMIM:612469
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss, Anorexia, Elevated circulating C-reactive protein concen...	ORPHA:1302
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Diarrhea, Increased circulating cortisol level, Abnormal...	ORPHA:99889
Crimean-Congo Hemorrhagic Fever	Diarrhea, Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Jaundice, Tachycardia, Diffuse alv...	ORPHA:99827
Stickler Syndrome Type 2	Cataract, Cleft palate, Corneal opacity	ORPHA:90654
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Lymphedema, Astigmatism, Corneal opacity	OMIM:152950
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Gastroesophageal reflux, Failure to thrive, Long philtrum, Chronic constipation, Short stature, M...	OMIM:619721
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature, Hypospadias	OMIM:612528
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Anorexia, Cervical lymphadenopathy, Leukopenia, Enlarge...	ORPHA:50918
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Constipati...	OMIM:236730
Erdheim-Chester Disease	Abnormal epiphysis morphology, Congestive heart failure, Dysuria, Xanthelasma, Renal insufficienc...	ORPHA:35687
Chronic Granulomatous Disease	Pyloric stenosis, Skin ulcer, Malabsorption, Splenomegaly, Gingivitis, Tracheoesophageal fistula,...	ORPHA:379
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Parkinson Disease 22, Autosomal Dominant	Constipation	OMIM:616710
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Hepatomegaly, Sinusitis, Lymphadenopathy, Thrombocy...	OMIM:617591
Mucopolysaccharidosis, Type Iiia	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric septal hyper...	OMIM:252900
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Acral ul...	ORPHA:91139
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Gas...	OMIM:618188
Insulin Autoimmune Syndrome	Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus	ORPHA:411593
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragm...	ORPHA:818
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Clubbing of toes, Hip dislocatio...	ORPHA:3474
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Ankyloglossia, Everted lower lip vermilion, Dysphagia, High, narrow palate, Gastro...	OMIM:615873
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Nausea, Dysp...	ORPHA:319218
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Gastrostomy tube feeding in infancy, Constipation, Thrombocytopenia, High noncerulo...	ORPHA:457351
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Absent cupid's bow, Celiac disease, Constipation, Feeding difficulties	ORPHA:284169
Thyroid Hypoplasia	Macroglossia, Growth delay, Hypothyroidism, Constipation, Abdominal distention, Short stature, Ja...	ORPHA:95720
Chronic Hiccup	Weight loss, Malnutrition	ORPHA:396
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Carious teeth, Failure to thrive in infancy, Micrognathia, Feeding ...	ORPHA:783
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Hepatic amyloidosis, Cervical lymphadenopathy, Chronic con...	OMIM:142680
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Dental crowding, Anteriorly placed anus, Facial wrinkling, Intestin...	OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Open mouth, Chronic constipation, Short philtrum, Smooth philtrum, H...	OMIM:617796
Stevenson-Carey Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Recurrent urinary tract infections, Narrow ...	OMIM:611961
Lathosterolosis	2-3 toe cutaneous syndactyly, Cataract, Elevated circulating lathosterol concentration, Postaxial...	OMIM:607330
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Anorexia, Ascites, Chronic noninfec...	ORPHA:100085
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Urinary retention, Absence of lymph node germin...	ORPHA:79124
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intestinal malrotation, Intrauterine growth retardation, Genu valgum, Leukocyto...	OMIM:619321
Ohdo Syndrome, X-Linked	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Thin vermilion border, Decreased ...	OMIM:300895
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Absent thumb, Growth delay, Radial dysplasia, Anemia, Anal atresia, ...	OMIM:617244
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca...	OMIM:618883
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Pallor, Neoplasm of the pancreas, Elevate...	ORPHA:892
Juvenile Dermatomyositis	Erythema, Gastrointestinal hemorrhage, Skin ulcer, Dry skin, Elevated circulating creatine kinase...	ORPHA:93672
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly	OMIM:616622
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Anapl...	ORPHA:142
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Postnatal growth retardation, Renal hypoplasia/apla...	ORPHA:709
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased circulating lactate concentration, Leg muscle stiffness, Generalized limb muscle atroph...	ORPHA:137898
Intellectual Developmental Disorder, X-Linked 99	Gastroesophageal reflux, Intrauterine growth retardation, Chronic constipation, Ectopic kidney, H...	OMIM:300919
Mucopolysaccharidosis, Type Iiic	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric septal hyper...	OMIM:252930
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Stickler Syndrome	Bifid uvula, Hypoplasia of the maxilla, Gastroesophageal reflux, Microretrognathia, Long philtrum...	ORPHA:828
Fg Syndrome 5	Diastema, Hypospadias, Long philtrum, Chronic constipation	OMIM:300581
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Widely spaced teeth, Micrognathia, Elevated circulating creatine kinase concentration, Constipati...	OMIM:617193
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Intrauterine growth retardation, Micrognathia,...	ORPHA:808
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Johanson-Blizzard Syndrome	Hepatomegaly, Anal atresia, Rectovaginal fistula, Hypospadias, Intrahepatic cholestasis, Ascites,...	OMIM:243800
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Acute hepatic failure, Cholestasis, Hyperammonemia, Splenomegaly, Hepa...	OMIM:618641
Prader-Willi Syndrome	Carious teeth, Hyperinsulinemia, Type II diabetes mellitus, Chronic constipation, Feeding difficu...	OMIM:176270
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Joint ...	OMIM:614462
Basel-Vanagaite-Smirin-Yosef Syndrome	Gastroesophageal reflux, Retrognathia, Furrowed tongue, Tented upper lip vermilion, Hydronephrosi...	OMIM:616449
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Obesity, Protruding tongue...	OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Widely spaced teeth, Obesity, Wide mouth, Protruding tongue, Constipation,...	ORPHA:98794
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Elevated circulatin...	OMIM:615934
Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph...	ORPHA:1267
Acute Transverse Myelitis	Urinary retention, Urinary bladder sphincter dysfunction, Gastroparesis, Abscess, Paralytic ileus...	ORPHA:139417
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Anasarca, Elevated circulating creatinine concentration, Hematuria, Prote...	OMIM:123550
Short Syndrome	Severe short stature, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior ...	ORPHA:3163
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Micro...	OMIM:619720
Rett Syndrome	Increased circulating lactate concentration, Failure to thrive, Increased serum leptin, Hyperammo...	ORPHA:778
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, High palate, Abnorma...	ORPHA:284160
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of fin...	OMIM:602782
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Sialuria	Long philtrum, Splenomegaly, Thin upper lip vermilion, Smooth philtrum, Protuberant abdomen, Incr...	OMIM:269921
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Pituitary Adenoma 4, Acth-Secreting	Alkalosis, Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Nephroli...	OMIM:219090
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Mi...	OMIM:113000
Lynch Syndrome	Gastrointestinal hemorrhage, Neoplasm of the stomach, Pituitary adenoma, Colon cancer, Pancreatic...	ORPHA:144
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Preaxial hand polyda...	ORPHA:96179
Aicardi-Goutieres Syndrome 1	Erythema, Splenomegaly, Petechiae, Multiple gastric polyps, Hepatomegaly, Feeding difficulties in...	OMIM:225750
Mitochondrial Dna-Associated Leigh Syndrome	Increased circulating lactate concentration, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,...	ORPHA:255210
Fryns Syndrome	Joint contracture of the hand, Anal atresia, Hypospadias, Duodenal atresia, Prominent fingertip p...	OMIM:229850
Diamond-Blackfan Anemia 6	Bifid uvula, Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Mitral ...	OMIM:612561
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Pallor, Cylindruria,...	OMIM:233450
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma ci...	OMIM:311250
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Absent distal phalanges, Bilateral cleft pal...	OMIM:619339
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Vomiting, Adrenocorticotropin deficient a...	ORPHA:2965
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc...	OMIM:601559
Foodborne Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph...	ORPHA:228371
Frank-Ter Haar Syndrome	Osteopenia, Growth delay, Flared metaphysis, Megalocornea, Cortical irregularity, High palate, Bo...	OMIM:249420
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Adducted thumb, Brachydactyly, Corneal opacity, Short stature, Abnormali...	ORPHA:1794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Increased circulating lactate concentration, Growth delay, Failure to ...	OMIM:617248
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Long philtrum, Gingival overgrowth, Protruding tongue, Chronic constipation, H...	OMIM:619179
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Gastroesophageal reflux, Chronic constipation	OMIM:619881
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Lymphopenia, Dry skin, Intrauterine growth retardation, Po...	OMIM:617827
Desmosterolosis	Severe short stature, Bifid uvula, Growth delay, Renal agenesis, Failure to thrive, Retrognathia,...	ORPHA:35107
Basilicata-Akhtar Syndrome	Precocious puberty, Gastroesophageal reflux, Downturned corners of mouth, Retrognathia, Tented up...	OMIM:301032
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Cataract, Microspherophakia, Broad phalanges of the hand, Ectopia lentis, ...	OMIM:277600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, H...	ORPHA:59303
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Ele...	ORPHA:454836
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Genu valgum, Irregular epiphyses of the metacarpals, Limb un...	OMIM:614078
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Feeding difficulties	ORPHA:101150
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:611783
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Pontocerebellar Hypoplasia, Type 9	Macroglossia, Increased circulating lactate concentration, Dysphagia, Short upper lip	OMIM:615809
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Intrauterine growth retardation, Vesicoureteral reflux, Proportionate short...	ORPHA:3208
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatic steatosis,...	ORPHA:2348
Xp21 Deletion Syndrome	Ketoacidosis, Growth delay, Finger clinodactyly, Decreased muscle mass, Adrenal insufficiency, Pr...	ORPHA:261476
Orthostatic Hypotension 1	Atrial fibrillation, Hypomagnesemia, Weakness of facial musculature, Brachydactyly, Increased blo...	OMIM:223360
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Tented upper lip vermilion, Constipation, Dysphagia, Feeding difficulties	OMIM:614961
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, ...	ORPHA:292
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence, Constipation	OMIM:613206
Giant Cell Arteritis	Hepatic failure, Skin ulcer, Gastrointestinal infarctions, Renal insufficiency, Hematuria, Weight...	ORPHA:397
Jacobsen Syndrome	Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Long philtrum, Intes...	ORPHA:2308
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Skin ulcer, Hemophagocytosis	ORPHA:86884
Cockayne Syndrome B	Severe short stature, Microcornea, Square pelvis bone, Hypoplasia of the iris, Hypoplastic iliac ...	OMIM:133540
Laron Syndrome	Severe short stature, Delayed menarche, Limb undergrowth, Decreased serum insulin-like growth fac...	OMIM:262500
Incontinentia Pigmenti	Cataract, Deviation of finger, Finger syndactyly, Keratitis, Camptodactyly of finger, Congestive ...	ORPHA:464
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Micrognathia, Narrow mouth, Feeding difficulties in infancy, Leukem...	OMIM:180849
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protube...	OMIM:230900
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Peters anomaly, Clinodactyly, Tricuspid regurgitation, Lymphopenia, Corneal sca...	OMIM:618460
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck	OMIM:617788
Immunodeficiency 23	Erythema, Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Membranoproliferative glomerulon...	OMIM:615816
Rothmund-Thomson Syndrome Type 1	Diarrhea, Aplastic anemia, Patellar aplasia, Telangiectasia, Neutropenia, Calcinosis, Leukemia, S...	ORPHA:221008
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Increased urina...	OMIM:252160
Fucosidosis	Macroglossia, Oligosacchariduria, Failure to thrive, Absent/hypoplastic paranasal sinuses, Thick ...	OMIM:230000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Bone marrow hypocellularity, Congestive heart failure, Rhizomelic arm shortening, Lymph...	ORPHA:508542
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Postnatal growth retardation, Abnormal metacarpal morphology, Absent radius, High p...	OMIM:268300
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased circulating lactate concentration, Cardiomyopathy, Intrauterine growth retardation, Lac...	ORPHA:572798
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Unilateral renal agenesis, Vomiting, Small bowel diverticula, C...	ORPHA:90348
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen...	ORPHA:79083
Kilquist Syndrome	Mandibular prognathia, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Chronic const...	OMIM:619080
Mogs-Cdg	Retrognathia, Nasogastric tube feeding, Hepatosplenomegaly, Chronic constipation, Cardiomegaly, L...	ORPHA:79330
Dravet Syndrome	Pallor	ORPHA:33069
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Congenital hepatic fibrosis, Bowing of ...	ORPHA:564
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Feeding d...	ORPHA:453504
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Feeding d...	ORPHA:352665
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Facial erythema, Abnormality of the kidney	ORPHA:284227
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Eos...	OMIM:617237
Acrodermatitis Enteropathica	Erythema, Cheilitis, Skin ulcer, Failure to thrive, Dry skin, Furrowed tongue, Malabsorption, Wei...	ORPHA:37
Kapur-Toriello Syndrome	Abnormality of the urinary system, Cleft upper lip, Intestinal malrotation, Intrauterine growth r...	OMIM:244300
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscu...	OMIM:617052
Poikiloderma With Neutropenia	Carious teeth, Retrognathia, Long philtrum, Leukopenia, Micrognathia, Splenomegaly, Recurrent sin...	OMIM:604173
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Gastroesophageal reflux, ...	ORPHA:93316
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Hyper-Igd Syndrome	Diarrhea, Vomiting, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, El...	OMIM:260920
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Dilatation of the renal pelvis, Fai...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Retrognathia, Long philtrum, Micrognathia, Chronic constipation, Oligodontia, Th...	OMIM:617061
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Lower limb m...	ORPHA:199244
Combined Deficiency Of Factor V And Factor Viii	Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, H...	ORPHA:35909
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Disproportionate short stature, Small epiphyses, Genu valgum, High palate, Hip contracture, Cleft...	OMIM:618363
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Lactic acidosis, Severely reduced left ven...	ORPHA:444013
1P36 Deletion Syndrome	Abnormality of the spleen, Narrow mouth, Hepatic steatosis, Abnormal intestine morphology, Feedin...	ORPHA:1606
Incontinentia Pigmenti	Erythema, Conical tooth, Delayed eruption of teeth, Leukocytosis, Pallor, Oligodontia, Hypodontia...	OMIM:308300
Developmental And Epileptic Encephalopathy 31B	Failure to thrive, Gingival overgrowth, Protruding tongue, Constipation, Tube feeding, Feeding di...	OMIM:620352
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c...	OMIM:218700
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells	ORPHA:133
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria, Hy...	OMIM:278300
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Cockayne Syndrome A	Cataract, Square pelvis bone, Hypogonadism, Hypoplastic iliac wing, Intrauterine growth retardati...	OMIM:216400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatos...	OMIM:619503
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Hemolytic anemia, Abnormality of the liver, Splenomega...	ORPHA:1572
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged platelet dens...	OMIM:608233
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Narrow mouth, Adr...	ORPHA:95699
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage...	OMIM:613550
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Postnatal...	ORPHA:959
Spastic Paraplegia 20, Autosomal Recessive	Short stature, Dysphagia, Urinary urgency, Chronic constipation	OMIM:275900
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proporti...	OMIM:301000
Combined Oxidative Phosphorylation Deficiency 58	Increased circulating lactate concentration, Vomiting, Ragged-red muscle fibers, Hyperprolinemia,...	OMIM:620451
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Severe lactic acidosis, Hypospadias, Increased circulating lactate concentration, Vomiting, Keton...	OMIM:220111
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Hyperhidrosis, Lymphadenopathy, Myocarditis	ORPHA:83317
Multiple Osteochondromas	Short stature, Dysphagia, Urinary retention, Intestinal obstruction	ORPHA:321
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon, Chronic constipation	OMIM:619465
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Feeding dif...	ORPHA:226307
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Macroglossia, Growth delay, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:256040
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Vomiting, Respiratory alkalosis, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Cerebral...	OMIM:237300
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Mandibular prognathia, Retrognathia, Male urethral meatus st...	ORPHA:464738
Yao Syndrome	Diarrhea, Xerostomia, Oral ulcer, Nephrolithiasis, Weight loss, Abdominal pain	OMIM:617321
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, Postnatal growth retardation, Intrauterine growth retardation, Bicoron...	OMIM:619184
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
D-Bifunctional Protein Deficiency	Osteopenia, Fetal ascites, Decreased muscle mass, Cholestasis, Primary adrenal insufficiency, Pol...	OMIM:261515
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Gastroesophageal reflux, Long philtrum, Pursed lips, Micrognathia, Constipation	OMIM:616266
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, Hy...	ORPHA:565612
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
8P11.2 Deletion Syndrome	Iris coloboma, Microcornea, Growth delay, Hypogonadism, Splenomegaly, Talipes equinovarus, Hypogo...	ORPHA:251066
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Short hard palate, Cachexia, Anorexia, Short stature	ORPHA:1969
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Long philtrum, Tented upper lip vermilion, Chronic constipation, Thick vermilion border, Hepatome...	OMIM:619383
Icf Syndrome	Lymphopenia, Malabsorption, Micrognathia, Protruding tongue, Anemia, Macroglossia, Abnormality of...	ORPHA:2268
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Disproportionate short stature, Enlarged epiphyses of the phalanges of the hand, Hypoplastic ilia...	OMIM:609616
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard...	OMIM:615190
Riddle Syndrome	Enuresis nocturna, Erythema, Diarrhea, Recurrent sinusitis, Chronic sinusitis, Generalized lympha...	ORPHA:420741
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bo...	ORPHA:3103
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos...	ORPHA:2688
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Long metacarpals, Dilatation of the renal pelvis, Hypoplastic scap...	OMIM:600920
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ...	OMIM:114000
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal...	OMIM:608470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Dilatation of the renal pelvis, Cleft soft palate, Chordee, Dysphagia, Hypospadias, Posterior pit...	ORPHA:268261
Thyroid Ectopia	Macroglossia, Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Dry s...	ORPHA:95712
Magel2-Related Prader-Willi-Like Syndrome	Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Chronic constipation, Inc...	ORPHA:398069
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Hyperalaninemia, Skelet...	OMIM:616896
Alg9-Cdg	Hypoplasia of the musculature, Diarrhea, Talipes equinovarus, Broad ischia, Torticollis, Abnormal...	ORPHA:79328
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat...	OMIM:613239
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Growth delay, Polyhydramnios, Splenomegaly, Short sta...	OMIM:608885
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Failure to thrive, Delayed eruption of teeth, Thick lower lip vermilion, Abn...	ORPHA:369950
Kagami-Ogata Syndrome	Pursed lips, Postnatal growth retardation, Large for gestational age, Micrognathia, Hepatoblastom...	ORPHA:254519
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Neurofibromatosis Type 1	Genu valgum, Leukemia, Genu varum, Precocious puberty, Cataract, Osteopenia, Carcinoid tumor, Cor...	ORPHA:636
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ...	ORPHA:1454
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Acral ulceration, Constipation, Anhidrosis, Urinary incontinence	OMIM:608654
Intellectual Developmental Disorder, Autosomal Dominant 64	Micrognathia, Chronic constipation, Thin upper lip vermilion, Short philtrum, Smooth philtrum, Hi...	OMIM:619188
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Pituitary adenoma, Vomiting, Adenomatous colonic polyposis, Thyro...	ORPHA:99818
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor, Dysphagia	ORPHA:13
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Hypertriglyceridemia, Chronic noninfect...	ORPHA:31150
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate concentration	OMIM:619405
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Short stature, Lactic acidosis	ORPHA:1170
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Hyperuricemia, Aplasia/hypopla...	ORPHA:2769
Nicolaides-Baraitser Syndrome	High, narrow palate, Growth delay, Failure to thrive, Periorbital wrinkles, Premature skin wrinkl...	OMIM:601358
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Catar...	OMIM:607459
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf...	OMIM:250790
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Hypocalciuria, Clinodactyly of the 2nd finger, Tricuspid regurgitation, Hypophosphatu...	ORPHA:73223
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Hypogonadism, Chronic constipation, Feeding difficult...	ORPHA:500055
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Cataract, Severe B lymphocytopenia, Small hand, Renal hypoplasia, Hepatic fibro...	OMIM:620005
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias...	ORPHA:411543
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Rectovaginal fistula, Failure to thrive in infancy, Lymphopenia, Hep...	ORPHA:35078
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Aplasia/Hypoplasia ...	ORPHA:570
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Elevated circulating thyroid-stimulating hormone concentration, S...	OMIM:601812
Hartsfield Syndrome	Hypoplasia of the frontal bone, Growth delay, Cleft upper lip, Gonadotropin deficiency, Median cl...	OMIM:615465
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chronic constipation, Hepatomegaly, Generalized aminoaciduria, Hypotriglyceridemia, Decreased LDL...	ORPHA:404454
Inhalational Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation	ORPHA:254504
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Nausea, Weight loss, Anemia, Abdominal pain, Micro...	ORPHA:71273
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Mucoepithelial Dysplasia, Hereditary	Cataract, Furrowed tongue, Corneal neovascularization, Chronic diarrhea, Hematuria, Keratoconjunc...	OMIM:158310
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Malabsorption, Hypoproteinemia	ORPHA:1116
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Vomiting, Gastroesophageal reflux, Failure to thrive, Vesicoureteral reflux,...	OMIM:618076
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Disproportionate shor...	ORPHA:457395
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Stillbirth, Advanced tarsal ossi...	OMIM:269250
Spondyloocular Syndrome	Cataract, Posterior subcapsular cataract, Osteopenia, Lymphedema, Overlapping toe, Arachnodactyly...	OMIM:605822
Trichohepatoneurodevelopmental Syndrome	Increased serum bile acid concentration, Decreased body weight, Hepatomegaly, High palate, Cholel...	OMIM:618268
Ramos-Arroyo Syndrome	Severe short stature, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Chro...	ORPHA:1051
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Failure to thrive, Dry skin, Recurrent infection of the gastrointestinal tract, Sp...	OMIM:612132
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor, Feeding difficulties	ORPHA:439218
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Failure to thrive, Narrow mouth, Thin upper lip vermilion, Constipation, Short stature,...	OMIM:618050
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Recurrent urinary tract infections, Hypocalcemic tetany, Recurrent infection of the gas...	ORPHA:83471
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Anal stenosis, Gastroesophageal reflux, Downturned corners of mouth, Postnatal growth retardation...	OMIM:620029
Sjogren-Larsson Syndrome	Short stature, Flexion contracture, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Turnpenny-Fry Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Dental malocclusion, Failure to thrive, Do...	OMIM:618371
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Increased circulating lactate concentration, Lower lim...	ORPHA:521411
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis, Feeding difficulties	OMIM:245348
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Growth delay, Widely spaced teeth, Micrognathia, Chronic constipation, Elevated circulating creat...	ORPHA:496641
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Irregular epiphyses, Sm...	OMIM:608728
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased...	ORPHA:399
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss, Lymphadenopathy	ORPHA:411703
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ...	OMIM:619752
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre...	ORPHA:99885
Rat-Bite Fever	Diarrhea, Vomiting, Lymphadenitis, Parotitis, Abdominal aseptic abscess, Weight loss, Pancreatiti...	ORPHA:31205
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Neonatal short-limb short stature, Radial bowi...	OMIM:151210
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Edema, Broad long bones, Short tubular bones of the ha...	OMIM:200610
Xp22.3 Microdeletion Syndrome	Short stature, Hypogonadotropic hypogonadism, Ectopic anus, Opacification of the corneal stroma	ORPHA:1643
Primary Biliary Cholangitis	Xanthelasma, Cirrhosis, Abdominal distention, Hepatomegaly, Jaundice, Celiac disease, Esophageal ...	ORPHA:186
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Cataract, Hypospadias, Peters anomaly, Colonic atresia, Anteriorl...	OMIM:309801
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Feeding difficulties, Neonatal death	OMIM:618232
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Increased circulating lactate concentration, Dilated cardiomyopathy, Diarrhea, Vomiting...	OMIM:618321
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Osteopenia, Sandal gap, Decreased fibular diameter, Tricuspid...	OMIM:619127
Graves Disease	Graves disease, Abnormal abdomen morphology, Goiter, Increased circulating free T3, Weight loss, ...	OMIM:275000
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Muscular dystrophy, Congenital contracture, Peters anomaly, Megalocornea, Elevated circ...	OMIM:236670
Kinsship Syndrome	Renal hypoplasia, Gastroesophageal reflux, Mandibular prognathia, Failure to thrive, Downturned c...	OMIM:619297
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Weight loss, Abdomi...	ORPHA:309031
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Dry skin, Portal hypertension, Splenomegaly, Scle...	OMIM:607626
Intellectual Developmental Disorder, Autosomal Dominant 61	Thin upper lip vermilion, Smooth philtrum, Wide mouth, Chronic constipation	OMIM:618009
Cockayne Syndrome Type 3	Lentiglobus, Hepatomegaly, Corneal ulceration, Cataract, Microcornea, Gastroesophageal reflux, Hy...	ORPHA:90324
Developmental And Epileptic Encephalopathy 83	Feeding difficulties in infancy, Long philtrum, Chronic constipation, Poor suck	OMIM:618744
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Nausea and vomitin...	ORPHA:679
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Hypospadias, Gastroesophageal reflux, Obesity, Hypodontia, Talon cusp...	ORPHA:353281
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circula...	OMIM:612852
Iatrogenic Botulism	Dysphagia, Constipation, Xerostomia, Urinary retention	ORPHA:254509
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Lymphopenia, Oral ulcer, Neutropenia, Elevated circulating C-reactive protein concent...	OMIM:620443
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Microphthalmia/Coloboma 12	Growth delay, Vesicoureteral reflux, Peters anomaly, Corneal opacity	OMIM:120200
Chromosome 6Pter-P24 Deletion Syndrome	Peters anomaly, Opacification of the corneal stroma, Axenfeld anomaly, Chronic constipation, Tela...	OMIM:612582
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Rhabdomyolysis, Myopathy, R...	OMIM:300842
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurr...	OMIM:615518
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Increased circulating lactate concentration, Vomiting, Micronodular cirrhosis, Anasarca...	OMIM:203700
White-Sutton Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Obesity, Open mouth, Narrow mouth, Chronic ...	ORPHA:468678
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Increased serum estradiol, Type II diabetes mellit...	ORPHA:3455
Chronic Graft Versus Host Disease	Erythema, Diarrhea, Xerostomia, Skin ulcer, Urinary bladder inflammation, Gastroesophageal reflux...	ORPHA:99921
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Dry skin, Cachexia	ORPHA:220295
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura	OMIM:620296
Rahman Syndrome	Feeding difficulties, Redundant skin, Chronic constipation	OMIM:617537
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypocalcification of dental enamel, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Throm...	ORPHA:169090
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Systemic Lupus Erythematosus	Leukopenia, Oral ulcer, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Lymphadenopathy, Th...	ORPHA:536
Cranioectodermal Dysplasia 2	Clinodactyly, Cholestasis, Hyperbilirubinemia, Hepatomegaly, High palate, Bile duct proliferation...	OMIM:613610
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Splenomegaly	ORPHA:3035
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Renal hypoplasia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hamartoma...	OMIM:616300
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Intellectual Developmental Disorder, Autosomal Recessive 76	Feeding difficulties, Precocious puberty in females, Chronic constipation	OMIM:619931
De Barsy Syndrome	Cataract, Osteopenia, Congenital hip dislocation, Decreased muscle mass, Postnatal growth retarda...	ORPHA:2962
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Growth delay, Tracheoesophageal fistula, Esophageal atresia, Sclerocornea, Hypopla...	ORPHA:77298
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Decreased sweating due to autonomic dysfunction, Constipation, Bowel incontinence, Pseudobulbar p...	OMIM:169500
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Retrognathia, Intrauterine growth retardation, Hepatic steatosis, Consti...	OMIM:619934
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Smooth tongue, Distal lower limb amyotrophy, Corneal opacity, Anemia, Craniosyno...	ORPHA:79396
Lipodystrophy, Congenital Generalized, Type 2	Generalized muscular appearance from birth, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type I...	OMIM:269700
Autosomal Recessive Spastic Paraplegia Type 20	Growth delay, Increased overbite, Hydronephrosis, Constipation, Dysphagia, Short stature, Dysuria	ORPHA:101000
Fg Syndrome 3	Feeding difficulties, Chronic constipation, Pyloric stenosis	OMIM:300406
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Micropenis, Camptodactyly, High palate, Growth delay, Short metacarpal, C...	OMIM:614230
Pontocerebellar Hypoplasia, Type 10	Gastroesophageal reflux, Widely spaced teeth, Thin upper lip vermilion, Constipation, High palate...	OMIM:615803
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Brachydactyly, Short ...	OMIM:146000
Fibrochondrogenesis 1	Hypoplastic ischia, Joint contracture of the hand, Small hand, Rhizomelia, Hypoplastic scapulae, ...	OMIM:228520
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Celiac disease, Polycystic kidney dysplasia, Hypos...	ORPHA:2044
Erythermalgia, Primary	Diarrhea, Xerostomia, Hyperhidrosis, Constipation	OMIM:133020
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Chronic constipation, Widely spaced teeth	OMIM:618906
Aspartylglucosaminuria	Aspartylglucosaminuria, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of u...	ORPHA:93
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Abdominal distention, Ascites, Chronic noninfect...	ORPHA:100086
Houge-Janssens Syndrome 2	Tented upper lip vermilion, Unilateral renal agenesis, Open mouth, Chronic constipation	OMIM:616362
Cushing Disease	Increased circulating cortisol level, Skin ulcer, Increased urinary cortisol level, Lymphopenia, ...	ORPHA:96253
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Increased urinary taurine, Hypocystinemia, Neonatal death, Limb hypertonia, Hyperta...	OMIM:615501
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Cataract, Osteopenia, Congenital hip dislocation, Growth delay, ...	OMIM:616007
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersp...	OMIM:230800
Semilobar Holoprosencephaly	Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroesophageal reflux, Decr...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroesophageal reflux, Decr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroesophageal reflux, Decr...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal gastrointestinal tract morphology, High palate, Dysphagia, Gastroesophageal reflux, Decr...	ORPHA:93924
Amyloidosis, Hereditary Systemic 1	Diarrhea, Cardiomegaly, Constipation, Episodic vomiting, Urinary incontinence	OMIM:105210
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Microcephaly 27, Primary, Autosomal Dominant	Micropenis, Chronic constipation	OMIM:619180
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Spl...	OMIM:613471
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy, Hyperhidrosis	ORPHA:99868
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Growth delay, Constipation	ORPHA:466934
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Dry skin, Micrognathia, Narrow mouth, Absent frontal sinuses, Hepatomeg...	ORPHA:955
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor...	ORPHA:93352
Pierson Syndrome	Cataract, Nephrotic syndrome, Skeletal muscle atrophy, Hypoplasia of the iris, Hyperechogenic kid...	OMIM:609049
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Lactic acidosis, Decreased body weight	ORPHA:255138
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:85414
Desbuquois Dysplasia 2	Toe clinodactyly, Epiphyseal dysplasia, Hip dislocation, Broad thumb, Bifid uvula, Severe short s...	OMIM:615777
Developmental And Epileptic Encephalopathy 95	Widely spaced teeth, Gingival overgrowth, Cardiomegaly, Constipation, Deep philtrum, Hepatomegaly...	OMIM:618143
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Fl...	OMIM:187600
Parkinsonism-Dystonia 1, Infantile-Onset	Gastroesophageal reflux, Feeding difficulties, Constipation	OMIM:613135
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Feeding difficulties, Chronic constipation, Recurrent urinary tract infections	OMIM:618707
Cowden Syndrome 1	Thyroid adenoma, Colonic diverticula, Hypoplasia of the maxilla, Goiter, Lymphopenia, Furrowed to...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Cleft lip, Hepatosplenomegaly, Obesity, Open mouth, Cholecyst...	OMIM:301066
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Constipation, Anhidrosis, Urinary incontinence, D...	ORPHA:441
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow palate, Overlapping fingers, Femoral bowin...	OMIM:617022
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Downturned corners of mouth, Dry skin, Wide mouth, Vesicoureteral re...	ORPHA:163956
Blau Syndrome	Nephropathy, Cataract, Keratitis, Xerostomia, Abnormal salivary gland morphology, Camptodactyly o...	ORPHA:90340
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Type I diabetes mellitus, Gastroesophageal reflux, Vomiting, Increased hepa...	OMIM:619525
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Abnormality of the ureter, Bowing of the long bones, Fo...	OMIM:249000
Igg4-Related Thyroid Disease	Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, S...	ORPHA:64744
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Nasogastric tube feeding, Obesity, Wide mou...	ORPHA:466943
Proteus Syndrome	Long penis, Thymus hyperplasia, Carious teeth, Tooth agenesis, Neoplasm of the thymus, Abnormal d...	ORPHA:744
Neurooculorenal Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st meta...	OMIM:620305
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Obesity, Constipation, Thick vermilion border, Short stature, Mandibular prognathia	OMIM:618493
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Decreased HDL cholesterol conc...	ORPHA:280365
Juvenile Polyposis Syndrome	Diarrhea, Clubbing of fingers, Stomach cancer, Juvenile gastrointestinal polyposis, Small intesti...	ORPHA:2929
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Distal Deletion 6P	Abnormal epiphysis morphology, Ectopia pupillae, Hypoplasia of the iris, Talipes equinovarus, Pos...	ORPHA:96125
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Malnutrition, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Cachexia, Hepat...	ORPHA:75565
Wound Botulism	Constipation, Dysphagia, Urinary retention	ORPHA:178475
Acute Radiation Syndrome	Diarrhea, Vomiting, Skin ulcer, Lymphopenia, Scaling skin, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Finger syndactyly, Abnormality of the urethra, Camptodactyly of finger, Oral leukopla...	ORPHA:2907
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Cataract, Increased circulating lactate concentra...	OMIM:157640
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Gastroesophageal reflux, Retrognath...	ORPHA:438213
Limb Body Wall Complex	Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Lens su...	ORPHA:2369
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Decreased muscle mass, Long hallux, Talipes equinovarus, Long f...	OMIM:309583
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Long philtrum, Chronic constipation, Smooth philtrum, Reduced circulating grow...	OMIM:616430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Hematuria, Jaundice,...	OMIM:619475
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Ectopia l...	OMIM:224400
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Microcoria, Neutropenia,...	ORPHA:93357
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ...	OMIM:219080
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the urinary system, Short thumb, Abdominal situs inversus, Preaxial h...	ORPHA:280
Mucopolysaccharidosis Type 2	Growth delay, Contractures of the large joints, Cardiomyopathy, Flexion contracture of digit, Spl...	ORPHA:580
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Delayed ossification of...	ORPHA:93346
Generalized Arterial Calcification Of Infancy	Osteomalacia, Adrenal calcification, Pancreatic calcification, Cortical nephrocalcinosis, Ascites...	ORPHA:51608
Familial Tumoral Calcinosis	Erythema, Nephrocalcinosis, Abnormality of the dentition, Splenomegaly, Abnormal palate morpholog...	ORPHA:53715
Yuan-Harel-Lupski Syndrome	Failure to thrive, Long philtrum, Chronic constipation, Thin upper lip vermilion, Smooth philtrum...	OMIM:616652
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasi...	OMIM:616843
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Abnormality of cartilage of external ear, Conjunctival hyperemia, Severe postnatal grow...	ORPHA:2399
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphrag...	ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Feeding difficulties in i...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Feeding difficulties in i...	ORPHA:353277
Bangstad Syndrome	Abnormality of the dentition, Type I diabetes mellitus, Increased circulating cortisol level, Abn...	ORPHA:1227
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Hydrourete...	OMIM:269150
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Severe short stature, Dilated cardiomyopathy, Growth delay, Hypertroph...	ORPHA:2556
Aicardi Syndrome	Precocious puberty, Gastroesophageal reflux, Cleft upper lip, Malabsorption, Intestinal polyposis...	ORPHA:50
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased circulating lactate concentration, Gastroesophageal reflux, Hyperalaninemia, Failure to...	OMIM:618249
Klatskin Tumor	Jaundice, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Abdominal pain, Extrahe...	ORPHA:99978
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Chronic constipation	OMIM:616459
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Widely spaced teeth, Open mouth, Constipation, Deep philtrum, Micropenis...	OMIM:610954
C Syndrome	Multicystic kidney dysplasia, Long philtrum, Horseshoe kidney, Failure to thrive in infancy, Micr...	ORPHA:1308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Gastroesophageal reflux, Nasogastric tube feeding, Obesity, Wide mouth, Thin upper lip vermilion,...	ORPHA:466950
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Sclerocornea, High palate, ...	ORPHA:139471
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Marfan Syndrome	High, narrow palate, Dental crowding, Retrognathia, Open bite, Striae distensae, Slender build, M...	ORPHA:558
Alexander Disease	Precocious puberty, Failure to thrive, Nausea and vomiting, Hypothyroidism, Constipation, Hyperhi...	ORPHA:58
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Carious teeth, Increased mean corpuscular volume, Aplastic anemia, O...	OMIM:127550
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Cardiomyopathy, Generalized muscular appearance from birth, Hyperinsulinemia,...	OMIM:608594
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Cata...	ORPHA:70595
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Triphalangeal thumb, Reticuloc...	OMIM:615550
Intellectual Developmental Disorder, Autosomal Dominant 73	Premature adrenarche, Hydroureter, Retrognathia, Widely spaced teeth, Thick lower lip vermilion, ...	OMIM:620450
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Excessive wrinkled skin, Chronic constipation, Prec...	OMIM:619950
Campomelic Dysplasia	Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of th...	ORPHA:140
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Protruding tongue, Constipation, Wide mouth, Feeding difficulties	OMIM:614325
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ...	OMIM:174800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Hepatitis, Oroticaciduria, Abnormal circulating citrulline concentration, ...	ORPHA:415
Postinfectious Vasculitis	Palpable purpura, Elevated haptoglobin level, Orchitis, Hematuria, Proteinuria, Abnormal circulat...	ORPHA:48435
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Ulnar deviated club hands, Fibular ...	OMIM:164900
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Malabsorption, Renal insufficienc...	ORPHA:79430
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Rhizomelia, Microcornea, Ectopia pupillae, 2-3 toe syndactyly, Scle...	OMIM:615877
Behr Syndrome	Dysphagia, Chronic constipation	OMIM:210000
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,...	OMIM:214500
Combined Oxidative Phosphorylation Defect Type 39	Increased circulating lactate concentration, Vomiting, Intrauterine growth retardation, Prominent...	ORPHA:565624
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Annular pancreas, Decreased serum insulin-like growth factor 1, Constipation, High pa...	OMIM:618162
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Rhizo-meso...	OMIM:611717
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Gastroesophageal reflux, Microretrognathia, Oral-pharyngeal dysphagia, Long ...	OMIM:300966
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Hypoplastic ilia, Micromelia, Clubbing of fingers, Pterygium, Broad long bo...	ORPHA:1865
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Leukodystrophy, Hypomyelinating, 20	Feeding difficulties, Chronic constipation	OMIM:619071
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic...	OMIM:603860
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Hepatic fibrosis, Microglossia, Postaxial polysyndactyly of foot, Preax...	OMIM:263520
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Esophagitis, Narrow mouth, Constipation, Abnormality of the kidney, Micropenis, ...	ORPHA:495818
Biotinidase Deficiency	Organic aciduria, Limb muscle weakness, Hyperammonemia, Conjunctivitis, Metabolic ketoacidosis	ORPHA:79241
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Anal atresia, C...	OMIM:263650
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Hypoplasia of the maxilla, Cleft upper lip, Decreased response to grow...	OMIM:213980
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Hepatosplenomegaly, Mild postnatal growth retardation...	ORPHA:85408
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Renal hypoplasia, Sandal gap, Cranial hyperostosis, Splenomegaly, Nephroblastoma	OMIM:612918
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased circulating lactate concentration	OMIM:618598
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Skin ulcer, Poor appetite	ORPHA:312
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Decreased ...	ORPHA:444077
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Dental malocclusion, Retrognathia, Diastema, Growth delay...	ORPHA:96121
Trisomy 8P	Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Retrognathia, Thin v...	ORPHA:264450
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Increased circulating lactate concentration, Congenital contracture, In...	OMIM:618397
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral edema, Increased circulating lactate concentration, Lactic acidosis, Torticollis	OMIM:617186
Huntington Disease-Like 2	Weight loss	OMIM:606438
Autoimmune Polyendocrinopathy Type 1	Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Short stature, Craniosynostosis, High pala...	OMIM:601853
Oromandibular Dystonia	Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnormal mandible morphology...	ORPHA:93958
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Currarino Syndrome	Anal stenosis, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Chron...	OMIM:176450
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Generalized osteoporosis, Femoral bowing, Thin bony cortex	OMIM:617952
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased circulating lactate concentration, Gastroesophageal reflux, Intrauterine growth retarda...	OMIM:620275
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Protei...	OMIM:616682
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Failure to thrive in infancy, Chronic constipation, Thin upper lip vermilion, Abno...	ORPHA:477817
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Congestive heart failure, Oligohydram...	OMIM:615512
Liposarcoma	Abdominal pain, Weight loss, Nausea and vomiting, Abnormality of the kidney	ORPHA:69078
Fraser Syndrome 1	Renal hypoplasia, Cutaneous finger syndactyly, Abnormal small intestine morphology, Wide pubic sy...	OMIM:219000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Persistence of hemoglobin F, Astigmatism, Hiatus hernia, Increased size ...	OMIM:619769
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Ectopic anus, Sclerocornea,...	ORPHA:251038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Fusariosis	Granuloma, Skin ulcer, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the ...	ORPHA:228119
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased circulating lactate concentration	ORPHA:438114
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Stomatocytosis, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, Hemolyt...	OMIM:153670
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Failure to thrive, Long philtrum, Widely spaced teeth, Chronic constipation, Thin up...	OMIM:617506
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Constipation	OMIM:616683
Behçet Disease	Aortic regurgitation, Cataract, Gastrointestinal hemorrhage, Vasculitis, Pulmonary embolism, Recu...	ORPHA:117
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ...	OMIM:615830
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Chronic constipation	OMIM:618060
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Disproportionate short-limb short...	OMIM:250420
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Hypoplasia of the zygomatic bone, Aganglionic megacolon, Constipation, Short p...	OMIM:613603
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Keratitis, Hydroureter, Ectrodactyly, Camptodactyly of finger, Oligodactyly...	ORPHA:2273
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Keratitis, Corneal opacity	OMIM:602562
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Genu valgum, Mitral stenosis, Corneal opacity	OMIM:607016
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Galactosialidosis	Severe short stature, Visceromegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival ...	OMIM:256540
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Short...	OMIM:169550
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Micrognathia, Open mouth, Protruding tongue, High palate, Widely-spaced maxillary central incisor...	OMIM:309580
Developmental And Epileptic Encephalopathy 47	Feeding difficulties, Chronic constipation	OMIM:617166
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Jaundice, Weight lo...	ORPHA:677
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplastic ilia, Rhizomelia, Hypoplastic acetabulae, Broad femoral neck, S...	ORPHA:239
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Larsen Syndrome	Hip dislocation, Accessory carpal bones, Intrauterine growth retardation, Multiple carpal ossific...	OMIM:150250
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Malnutrition, Mandibular pain, Abnormal palate morphology, Weight loss...	ORPHA:221098
8P23.1 Microdeletion Syndrome	Growth delay, Obesity, Micrognathia, Intrauterine growth retardation, Weight loss, Short stature,...	ORPHA:251071
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Recurrent sinusitis, Hypothyroidism, Tubulointerstitial fibrosis,...	OMIM:607944
Mowat-Wilson Syndrome	Tooth malposition, Multicystic kidney dysplasia, Open mouth, Decreased body weight, Chordee, Ever...	ORPHA:2152
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro...	ORPHA:88
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Anteriorly placed anus, Decreased serum testosterone concentration, Rena...	ORPHA:495875
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Ecchymosis, Hydronephrosi...	OMIM:601776
Adnp Syndrome	Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Recurrent urinary tract infections,...	ORPHA:404448
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplasia of the capital femoral epiphysis, Hypoplastic iliac wing, Irregular epiphyses, Postnat...	OMIM:313400
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Feeding dif...	ORPHA:273
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Cataracts, Spastic Paraparesis, And Speech Delay	Chronic constipation	OMIM:619338
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Dilatation of the renal pelvis, Lymphopenia, Micrognathia, A...	OMIM:619708
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ankyloglossia, Mitral regurgitation, Female hypogonadism, High palate, Lef...	ORPHA:740
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Childhood Absence Epilepsy	Urinary incontinence, Pallor	ORPHA:64280
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Decreased skull ossification, Micropenis, Fla...	OMIM:216340
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Achondroplasia	Rhizomelia, Hip joint hypermobility, Disproportionate short stature, Trident hand, Narrow greater...	ORPHA:15
Aromatic L-Amino Acid Decarboxylase Deficiency	Gastroesophageal reflux, Diarrhea, Feeding difficulties in infancy, Constipation, Hyperhidrosis	OMIM:608643
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Hydronephrosis, Sclerocornea, Pelvic kidney	OMIM:613001
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Constipation	ORPHA:227510
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Hepatomegaly, Osteopetrosis, A...	OMIM:612301
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Ascites, Phe...	ORPHA:139411
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Hypocalcemia, Submucous cleft hard palate, Posterior embryotoxon, H...	OMIM:192430
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Biliary cirrhosis, Xerostomia, Skin ulcer, Parotitis, Chronic act...	ORPHA:289390
Central Hypoventilation Syndrome, Congenital, 3	Episodic vomiting, Feeding difficulties, Chronic constipation	OMIM:619483
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Talipe...	OMIM:271640
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Microglossia, Intrauterine growth retardation, Olig...	ORPHA:364577
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatic failure, Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL choleste...	ORPHA:77293
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Talipes equinovar...	OMIM:312870
Mucolipidosis Type Ii	Postnatal growth retardation, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, Gastrostomy ...	ORPHA:576
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Cirrhosis, Retinal telangiectasia, Esopha...	ORPHA:774
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Horseshoe kidney, Polyhydramnios, Splenomegaly, Aplasia of the epiglottis,...	OMIM:617088
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Microcornea, Opacification of the corneal stroma, Hypospadias, Anterior chamber sy...	OMIM:601499
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Dysp...	ORPHA:94068
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Gastroesophageal reflux, Long penis, Downturned corners of mouth, Delayed ...	OMIM:135500
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Downturned corners of mouth, Widely spaced teeth, Thin upper lip vermilion, Chordee, Constipation...	OMIM:616728
Toxin-Mediated Infectious Botulism	Constipation, Dysphagia	ORPHA:230800
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Corneal crystals, Rickets	OMIM:219900
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Multicystic kidney dysplasia, Open mouth, Chordee, Urinary incontinence, Dysph...	ORPHA:261537
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Renal agenesis, Polysplenia, Duodenal atresia, Horseshoe kidney, Abdo...	OMIM:306955
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Astigmatism, Abnormal metacarpal morpho...	ORPHA:2095
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Nausea, Constipation	ORPHA:2828
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Infantile Neuroaxonal Dystrophy	Constipation	ORPHA:35069
Olmsted Syndrome 1	Autoamputation of digits, Hyperhidrosis, Corneal opacity, Flexion contracture, Opacification of t...	OMIM:614594
Townes-Brocks Syndrome	Renal hypoplasia, Rectovaginal fistula, Failure to thrive, Anteriorly placed anus, Wide mouth, Re...	ORPHA:857
Bullous Pemphigoid	Erythema, Weight loss, Diabetes mellitus, Oral mucosal blisters	ORPHA:703
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Disproportionate short-limb short stature, Fem...	OMIM:618019
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Hyperplasia of the maxilla, Type II diabetes mellitus, Narrow mout...	OMIM:613406
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Hamartoma of tongue, Absent gallbladder, Decreased calvarial o...	OMIM:617925
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Celiac disease, Large for gestational age, Retrognathia, Chronic constipation	ORPHA:544488
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Parkinson Disease, Late-Onset	Constipation, Dysphagia, Urinary urgency	OMIM:168600
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Narrow palate, Corneal opacity	OMIM:620469
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino...	ORPHA:103918
Okur-Chung Neurodevelopmental Syndrome	Failure to thrive, Micrognathia, Protruding tongue, Thin upper lip vermilion, Constipation, High ...	OMIM:617062
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary retention, Recurrent urinary tract infections, Malnutrition, Constipation, Anhidrosis, De...	ORPHA:99027
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho...	OMIM:215150
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Retrognathia, Disproportionate ...	OMIM:619194
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Cataract, Disproportionate short-limb short stature, Micromelia, Pterygium,...	OMIM:224410
Neurocardiofaciodigital Syndrome	Cataract, Vesicoureteral reflux, Polydactyly, Sclerocornea, High palate, Short stature, Syndactyly	OMIM:619869
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Isc...	OMIM:175780
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Short clavicles, Cleft palate, Short ...	ORPHA:370930
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Short stature, Persistence of hemoglobin F	OMIM:617101
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Failure to thrive, Everted upper lip vermilion, Hyperplasia of the maxil...	ORPHA:513456
Microphthalmia, Syndromic 3	Cataract, Postnatal growth retardation, Hypogonadotropic hypogonadism, Micropenis, Esophageal atr...	OMIM:206900
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Hypohidrosis, Sclerocornea, Short stature, Cor...	ORPHA:1806
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Corneal opacity	ORPHA:578
Viss Syndrome	Cleft soft palate, Micrognathia, Chronic constipation, Abdominal distention, Celiac disease, High...	OMIM:619472
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Gastroesophageal reflux, Feeding difficulties, Constipation	OMIM:613454
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Growth delay, Polycythemia	OMIM:250800
Pemphigus Vulgaris	Erosion of oral mucosa, Oral mucosal blisters, Feeding difficulties in infancy, Weight loss, Recu...	ORPHA:704
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Retrognathia, Chronic constipation, Short stature, High palate	OMIM:300472
Hereditary Late-Onset Parkinson Disease	Weight loss, Dysphagia, Spastic/hyperactive bladder, Chronic constipation	ORPHA:411602
Ichthyosis, Congenital, Autosomal Recessive 11	Hypohidrosis, Corneal opacity	OMIM:602400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Neutropenia, Intestinal perforation, ...	ORPHA:95455
Multiple System Atrophy	Constipation	ORPHA:102
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Failure to thrive, Micrognathia, Narrow mouth, Phimosis, Short philtrum, Chordee, Constipation, S...	OMIM:620455
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy	ORPHA:75566
Oculoectodermal Syndrome	Microcornea, Growth delay, Lymphedema, Hypertrophic cardiomyopathy, Transient ischemic attack, As...	OMIM:600268
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Craniotubular Dysplasia, Ikegawa Type	Mydriasis, Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metap...	OMIM:619727
Developmental And Epileptic Encephalopathy 2	Gastroesophageal reflux, Thick lower lip vermilion, Constipation	OMIM:300672
Multiple System Atrophy, Parkinsonian Type	Constipation	ORPHA:98933
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m...	ORPHA:51636
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Pulmo...	ORPHA:2396
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Bifid uvula, Microcornea, Toe syndactyly, Female hypogonadism, Finge...	OMIM:607932
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Multicystic kidney dysplasia, Open mouth, Chordee, Urinary incontinence, Dysph...	ORPHA:261552
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Sandal gap, Hypocalcemia, Hydronephrosis, Constipation, Cutaneous ...	OMIM:620330
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Xeroderma Pigmentosum	Aminoaciduria, Cataract, Craniofacial hyperostosis, Keratitis, Pterygium, Hypogonadism, Conjuncti...	ORPHA:910
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Tay-Sachs Disease	Pallor	OMIM:272800
Plague	Inflammation of the large intestine, Diarrhea, Vomiting, Skin ulcer, Lymphadenitis, Enlarged mese...	ORPHA:707
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormality of the submandibular glands, Enlargement of parotid gland, Nodular goiter...	ORPHA:79078
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Corneal opacity, Hypoplasia of penis, Growth delay, Corn...	ORPHA:920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Exaggerated median tongue furrow, Microglossia, Sho...	OMIM:608670
Pyomyositis	Weight loss, Leukocytosis, Recurrent cutaneous abscess formation, Renal insufficiency	ORPHA:764
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Eales Disease	Constipation	ORPHA:40923
17Q11 Microdeletion Syndrome	Large hands, Leukemia, Precocious puberty, Osteopenia, Hypertrophic cardiomyopathy, Glomus jugula...	ORPHA:97685
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary...	OMIM:221900
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Ichthyosis, X-Linked	Opacification of the corneal stroma, Hypohidrosis	OMIM:308100
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:424
Developmental And Epileptic Encephalopathy 100	Gastroesophageal reflux, Micrognathia, Gingival overgrowth, Protruding tongue, Chronic constipati...	OMIM:619777
Menke-Hennekam Syndrome 2	Agenesis of permanent teeth, Micrognathia, Chronic constipation, Thin upper lip vermilion, Deep p...	OMIM:618333
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Arrhythmia, Hepatomegaly, Jaundice, Urinary incontinence, Third deg...	ORPHA:3385
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Cerebrotendinous Xanthomatosis	Osteopenia, Tendon xanthomatosis, Distal amyotrophy, Increased circulating lactate concentration,...	ORPHA:909
Combined Oxidative Phosphorylation Deficiency 29	Increased circulating lactate concentration	OMIM:616811
Faundes-Banka Syndrome	Fetal ascites, Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Micro...	OMIM:619376
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Malabsorption, Aganglionic megacolon, Anemia, Abnormality of the pancreas	ORPHA:935
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ...	OMIM:250220
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Hypohidrosis	ORPHA:461
Geleophysic Dysplasia 1	Aortic valve stenosis, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short me...	OMIM:231050
Granulomatosis With Polyangiitis	Skin ulcer, Oral ulcer, Weight loss, Granulomatosis, Sinusitis	OMIM:608710
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Neonatal death, Hypospadias, Hip dislocation, Renal dysplasia, Rena...	OMIM:308205
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Narrow iliac wing, Disproportionate short-limb short stature, Flared metaphysis, Short long bone,...	ORPHA:2502
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Retrognathia, Horseshoe kidney, Intrauterine growth retardatio...	ORPHA:1724
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Short hard palate, Broad toe,...	OMIM:180700
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Gastroesophageal reflux, Dental crowding, Pelvic organ prolapse, Striae dist...	ORPHA:285
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm...	ORPHA:91495
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Gastroesophageal reflux, Growth delay, Cleft upper lip, Long philtrum, Congenital hy...	OMIM:607872
Camptodactyly Syndrome, Guadalajara Type 3	Symblepharon, Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Distal ...	ORPHA:488434
Curry-Jones Syndrome	Anal stenosis, Lip pit, Intestinal pseudo-obstruction, Intestinal malrotation, Chronic constipation	OMIM:601707
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Apolipoprotein A-I Deficiency	Abnormal circulating lipid concentration, Xanthelasma, Angina pectoris, Decreased HDL cholesterol...	ORPHA:425
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu...	OMIM:619482
Proboscis Lateralis	Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis,...	ORPHA:141099
Alström Syndrome	Chronic kidney disease, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsuline...	ORPHA:64
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Chronic constipation	OMIM:619352
Perry Syndrome	Weight loss	ORPHA:178509
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Decreased calvarial ossification, Bowing of the long bones, Angulated hum...	OMIM:616229
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Disproportionate short-limb short stature, Trident pelvis, Short humerus, ...	OMIM:619479
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ...	OMIM:256800
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Combined Oxidative Phosphorylation Deficiency 15	Increased circulating lactate concentration, Small hand, Shortened PR interval, Wolff-Parkinson-W...	OMIM:614947
Combined Oxidative Phosphorylation Defect Type 29	Increased circulating lactate concentration	ORPHA:478029
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Dry skin, Elevated circulating crea...	ORPHA:221
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Vomiting, Delayed eruption of teeth, Wid...	OMIM:235730
Rodrigues Blindness	Sclerocornea, Microcornea, Short stature	OMIM:268320
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Velopharyngeal insufficiency, Failure to thrive, Horseshoe kidney, Micro...	OMIM:619325
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t...	ORPHA:90695
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:99819
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Abnormality of neutrophil physiology, Bone marrow hypocellularity, Recu...	ORPHA:2968
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Recurrent apht...	ORPHA:29207
Choreoacanthocytosis	Temporomandibular joint crepitus, Acanthocytosis, Splenomegaly, Protruding tongue, Elevated circu...	ORPHA:2388
Myhre Syndrome	Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Cataract, Cone-shap...	OMIM:139210
Acromesomelic Dysplasia 4	Rhizomelia, Disproportionate short stature, Chronic constipation, Short stature, Mandibular progn...	OMIM:619636
Microphthalmia/Coloboma 9	Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis	OMIM:615145
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre...	ORPHA:95494
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Broad phalanx, High palate, Short metacarpal, Disproportionate short-limb short...	OMIM:271665
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Increased serum pyruvate, Feeding difficulties, Poor...	OMIM:618222
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Vomiting, Abnormality of the temporomandibular joint, Striae distensae, ...	ORPHA:287
Acquired Central Diabetes Insipidus	Diabetes insipidus, Pollakisuria, Weight loss	ORPHA:95626
Norrie Disease	Failure to thrive, Malar flattening, Cachexia, Delayed puberty, Thin vermilion border, Diabetes m...	ORPHA:649
Gaucher Disease, Type Iiic	Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly, Opacification of the cor...	OMIM:231005
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul...	OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach...	OMIM:300952
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Short palm, Flat ace...	OMIM:300106
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Rectal abscess, Constipation	OMIM:600145
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi...	ORPHA:98957
Osteosarcoma	Weight loss	ORPHA:668
Central Hypoventilation Syndrome, Congenital, 1	Ineffective esophageal peristalsis, Chronic constipation, Aganglionic megacolon, Hyperhidrosis, F...	OMIM:209880
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Clubbing, Polycythemia, ...	OMIM:600376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Pallor, Malar flattening, Elevated circulating creatine kinase concentration, Evert...	OMIM:253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Muscular dystrophy, Hydromyelia, Elevated circulating creatine kina...	OMIM:615287
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Thin bony cortex	OMIM:612731
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hematuria, Weight loss, Hepatomegaly, Increased circulating surfactant p...	ORPHA:60025
Nocardiosis	Vomiting, Brain abscess, Cutaneous abscess, Lymphadenitis, Peritonitis, Abnormality of the adrena...	ORPHA:31204
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, Failure to thrive, Micrognathia, Weight loss, Nasogastric tube feeding in infanc...	ORPHA:2020
Tyrosinemia Type 2	Hyperhidrosis, Corneal opacity	ORPHA:28378
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c...	OMIM:187300
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Cog1-Cdg	Osteopenia, Rhizomelia, Postnatal growth retardation, Hepatosplenomegaly, Talipes equinovarus, Pu...	ORPHA:263508
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Oculopharyngodistal Myopathy 1	High palate, Weight loss, Dysphagia, Elevated circulating creatine kinase concentration	OMIM:164310
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Gastroesophageal reflux, Narrow mouth, Chronic constipation, Exaggerated cupid's bow...	OMIM:619480
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens, Constipation	ORPHA:314647
Perry Syndrome	Weight loss	OMIM:168605
Holoprosencephaly 2	Anterior pituitary agenesis, Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft ...	OMIM:157170
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, M...	OMIM:614756
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia, Chronic constipation, Pyloric stenosis	OMIM:618458
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Menke-Hennekam Syndrome 1	Gastroesophageal reflux, Everted upper lip vermilion, Long philtrum, Agenesis of permanent teeth,...	OMIM:618332
Lambert-Eaton Myasthenic Syndrome	Hypohidrosis, Xerostomia, Constipation	ORPHA:43393
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne...	OMIM:221800
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela...	ORPHA:79280
Phace Syndrome	Cataract, Heterochromia iridis, Hypothyroidism, Sclerocornea, Lens coloboma, Iris coloboma, Ectop...	ORPHA:42775
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Flared metaphysis, Thicke...	OMIM:620558
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Cardiomegaly, Pallor, Poor suck	ORPHA:99125

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 Slc4a4

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 Slc4a4.

No publications found that use IMPC mice or data for Slc4a4.

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
Slc4a4^{tm44356(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc4a4^{tm44356(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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