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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 (2453 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, Short stature, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption o...	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 serum lactate	OMIM:618245
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Tiglic Acidemia	Acidosis	OMIM:275190
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Metab...	OMIM:611590
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Short stature, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption o...	OMIM:604278
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo...	ORPHA:85450
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Dehydration, Metabolic acidosis, Hypera...	OMIM:264350
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of...	OMIM:241500
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increas...	OMIM:613845
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Growth d...	OMIM:602722
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Succinic Acidemia	Lactic acidosis	OMIM:600335
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine	ORPHA:391457
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Diab...	ORPHA:2088
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased re...	OMIM:614732
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatocellular carci...	ORPHA:79240
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ...	ORPHA:95409
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Chron...	ORPHA:324525
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Diarrhea,...	ORPHA:427
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Hepatic mela...	OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabe...	OMIM:613404
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Diarrhea, Hematuria, Mi...	ORPHA:54057
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt was...	OMIM:601678
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased serum lactate, Metabolic acidosis	OMIM:615158
East Syndrome	Renal salt wasting, Metabolic alkalosis, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperald...	ORPHA:199343
Juvenile Nephropathic Cystinosis	Dehydration, Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypo...	ORPHA:411634
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ...	OMIM:203400
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Thin bony cortex, Decreased circulating parathyroid h...	OMIM:241530
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp...	ORPHA:26790
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Renal Fanconi syndro...	OMIM:619743
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Hypokalemic Tubulopathy And Deafness	Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting	OMIM:619406
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Renal hypoplasia/aplasia, Hydro...	ORPHA:2123
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, Lactic ac...	OMIM:557000
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis	OMIM:236795
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, ...	OMIM:601198
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Mirage Syndrome	Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hyponatremia, H...	OMIM:617053
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k...	ORPHA:97362
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism,...	ORPHA:171876
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Ragged-red muscle fib...	OMIM:530000
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Dehydration, Nephrocalcinosis, Reduced bone mineral density, Aminoaci...	ORPHA:18
Fanconi-Bickel Syndrome	Chronic acidosis, Acidosis, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dy...	OMIM:227810
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Metabolic acidosis, Hyperactive renin...	OMIM:177735
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Splenomegaly, Elbow flexion contractu...	OMIM:618440
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Hyperte...	ORPHA:69077
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoacidu...	OMIM:219800
Hereditary Coproporphyria	Dark urine, Hyponatremia, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp...	ORPHA:79273
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Shigellosis	Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il...	ORPHA:810
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Ren...	OMIM:614922
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Short stature, Polyuria, Renal salt wasting, Elevated serum bica...	OMIM:612780
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Wolman Disease	Nausea and vomiting, Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splen...	ORPHA:75233
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Increased fecal coproporphyrin 3, Nausea, Abdominal pain, Abnormal erythrocyte enzy...	ORPHA:100924
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom...	OMIM:239199
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin...	OMIM:277900
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Abdominal distention, Elevated serum bicarbonate concentration...	OMIM:214700
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Increased serum lactate, Proximal renal tubular acidosis,...	OMIM:266150
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens...	ORPHA:251274
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate	OMIM:614055
Combined Oxidative Phosphorylation Deficiency 44	Increased serum lactate	OMIM:618855
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Intestinal obstruction, Abdominal pain, Malabsorption, Diarrhea, G...	OMIM:226300
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Rhabdomyolysis, ...	OMIM:263800
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Bicarbonaturia, Dehydration, Reduced bone mineral density, Nep...	ORPHA:47159
Mitochondrial Neurogastrointestinal Encephalomyopathy	Poor appetite, Gastrointestinal dysmotility, Lactic acidosis, Vomiting, Macrovesicular hepatic st...	ORPHA:298
Galactosemia I	Hemolytic anemia, Hepatomegaly, Hypergonadotropic hypogonadism, Diarrhea, Metabolic acidosis, Inc...	OMIM:230400
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Vomiting, Stomach cancer, ...	ORPHA:2869
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Cataract, Hypospadias, Increased serum lactate, Hyperammonemia, Dysphagi...	OMIM:615471
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Hydrops f...	ORPHA:699
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Bartter Syndrome Type 4	Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le...	ORPHA:89938
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa...	OMIM:615751
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Osteomalacia, Decrease...	ORPHA:157215
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Aphthous ulcer, Ulcerative colitis, Weight loss...	OMIM:266600
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ...	ORPHA:2118
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne...	OMIM:241200
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized ...	ORPHA:160
Tyrosinemia, Type I	Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly...	OMIM:276700
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Reduce...	ORPHA:168558
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypopar...	ORPHA:199299
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abdominal pain, Abnormal circulating porphyrin concentration, C...	ORPHA:79473
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Rena...	OMIM:611555
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis...	OMIM:181180
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate	OMIM:615395
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Necrolytic migratory...	ORPHA:97280
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Feeding difficulties, Weight loss, Lactic acidosis, Aminoaciduria, Proximal t...	OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate	OMIM:619062
Blue Diaper Syndrome	Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Nephroca...	ORPHA:94086
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Myocardial infarction, Angina pectoris, Sp...	ORPHA:90041
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis,...	OMIM:615824
Alg8-Cdg	Abnormality of the gastrointestinal tract, Hyponatremia, Small for gestational age, Diarrhea, Fee...	ORPHA:79325
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetali...	OMIM:619003
Adrenocortical Carcinoma	Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort...	ORPHA:1501
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Renal tubular acidosis, Transient hy...	ORPHA:156
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria	ORPHA:33574
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis,...	ORPHA:369929
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp...	OMIM:613677
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97283
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Feeding...	ORPHA:534
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh...	ORPHA:2930
Central Diabetes Insipidus	Nausea and vomiting, Hyponatremia, Anorexia, Diarrhea, Weight loss, Failure to thrive, Diabetes i...	ORPHA:178029
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Increased serum lactate, Abdominal distention, Leukocyto...	ORPHA:391673
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Severe short st...	OMIM:156400
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ...	OMIM:274150
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Polyhydramnios, Splenomegaly, Abnorm...	ORPHA:2204
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Short stature, Osteomalacia, Rickets, Generalized a...	OMIM:613388
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Short stature, Abnormal urine sodium concen...	ORPHA:320
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Corneal crystals, Rickets, Abnormal blood i...	ORPHA:411629
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Snakebite Envenomation	Hyponatremia, Diarrhea, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Ging...	ORPHA:449285
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Lactic acidos...	ORPHA:506
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Lactic acidosis, Renal t...	ORPHA:436271
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h...	ORPHA:231625
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly, Increased serum lactate, Lactic acidosis, Growth delay, Pallo...	OMIM:613561
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Sudden cardiac death, Pericardial effusion, Abnormal renal tubul...	ORPHA:73224
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased serum lactate, Lactic acidosis, Renal tub...	OMIM:220110
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c...	OMIM:615160
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Hypomagnesemia, Xerostomia, Hamartom...	OMIM:175500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Hyperaldosteronism, Increased circul...	OMIM:620125
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anor...	ORPHA:507
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Hyperaldosteronism, Increased circul...	OMIM:620126
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglobinuria, Vomiting, Acute...	ORPHA:90038
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Feeding difficulties in infancy, Increased serum lactate, Metabolic acidosis, Failure to thrive, ...	OMIM:610090
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto...	OMIM:606054
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ...	ORPHA:131
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid c...	ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas...	OMIM:619386
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u...	ORPHA:94080
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess, Abdominal pain, Leukocytosis,...	ORPHA:67
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Leukopenia, High palate, Hypocalcemia, Hepato...	ORPHA:2785
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Hypokalemic hypochloremic metabolic al...	OMIM:602522
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl...	ORPHA:3337
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,...	OMIM:615605
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c...	ORPHA:913
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Increased serum la...	OMIM:617021
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi...	ORPHA:447
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Pallor, Hypothyro...	ORPHA:231226
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Andersen-Tawil Syndrome	High palate, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopic...	ORPHA:37553
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, ...	ORPHA:251004
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Myopathy, Cardiomyopathy, E...	ORPHA:26792
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metab...	OMIM:246450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Increased serum lactate, Congestive heart failure,...	OMIM:619048
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas...	OMIM:613662
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Micrognathia, Increased serum lacta...	OMIM:600462
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Anorexi...	ORPHA:824
Legionnaires Disease	Nausea and vomiting, Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Sp...	ORPHA:549
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial ...	ORPHA:37042
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acid...	OMIM:616457
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract...	ORPHA:361
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Increased T3/T4 ratio, Increased body weigh...	OMIM:614450
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Anorexia, Abdominal pain, Malabsorption,...	ORPHA:3452
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Lactic acidosis, Renal Fanconi syndrom...	ORPHA:53693
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Pallor, Hypothyroidism, Hyperpl...	ORPHA:231214
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Incre...	OMIM:619046
Sengers Syndrome	Osteopenia, Cataract, Cardiac arrest, Sudden cardiac death, Increased serum lactate, Developmenta...	OMIM:212350
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Facial palsy, Elevated circulating creatine kinase concentration, Increased serum ...	OMIM:616209
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo...	OMIM:300653
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Leukocytosis, Diarrhea, ...	ORPHA:31824
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-...	ORPHA:231580
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b...	OMIM:615474
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Poor appetite, Reduced circulating prolactin ...	ORPHA:95512
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Hypercalcemia, Trach...	ORPHA:2591
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en...	ORPHA:1133
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, Lactic acidosis...	OMIM:618120
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate prod...	OMIM:615631
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Gastrointestinal dysmotility, Vomiting, Pa...	ORPHA:90051
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis	OMIM:203750
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Panhypophysitis	Decreased circulating cortisol level, Poor appetite, Reduced circulating prolactin concentration,...	ORPHA:95513
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Short stature, Corneal opacity, Splenomegaly, Flexion cont...	ORPHA:87876
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach...	ORPHA:83469
Sheehan Syndrome	Decreased circulating cortisol level, Poor appetite, Reduced circulating prolactin concentration,...	ORPHA:91355
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci...	ORPHA:79155
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia,...	OMIM:304790
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Proteinuria, Abnormality of the kidney, Short stature, Hepatocellular c...	ORPHA:369
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Nephrogenic ...	ORPHA:213
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Pallor, Thrombocytop...	ORPHA:517
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Increased serum la...	OMIM:617872
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd...	ORPHA:713
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Short stature, Abnormal dental e...	ORPHA:2323
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet...	ORPHA:97289
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J...	OMIM:603553
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Igg4-Related Aortitis	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Hy...	ORPHA:449400
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Combined Oxidative Phosphorylation Deficiency 43	Projectile vomiting, Small for gestational age, Elevated circulating creatine kinase concentratio...	OMIM:618851
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Short stature, Hypercalcemia, Developmental cataract, Nephrocalcinosis, Sh...	ORPHA:557003
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Osteopenia, Sho...	OMIM:239000
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp...	OMIM:259730
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Renal phosphate was...	OMIM:612286
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic an...	ORPHA:77297
Acute Peripheral Arterial Occlusion	Leukocytosis, Acidosis, Pallor	ORPHA:90064
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn...	OMIM:620152
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Poor appetite, ...	ORPHA:35858
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D...	ORPHA:343
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ...	ORPHA:342
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Hyperammonemia	OMIM:620137
Cholera	Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Acidosis, Diarrhea, A...	ORPHA:173
Dehydrated Hereditary Stomatocytosis	Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu...	ORPHA:3202
Infection-Related Hemolytic Uremic Syndrome	Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions...	ORPHA:544482
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis	OMIM:615615
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Corneal opacity, Conge...	OMIM:166300
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Cardiomegaly, Leukopenia, Aminoaciduria, Vo...	OMIM:619991
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Gro...	ORPHA:79238
Hypophosphatasia	Bowing of the long bones, Short stature, Hypercalcemia, Craniosynostosis, Abnormal metaphysis mor...	ORPHA:436
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Sinus ...	ORPHA:276621
Vici Syndrome	Cataract, Short stature, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, High palate	ORPHA:1493
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Ost...	ORPHA:408
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Lactic acidosis, Growth delay, Hypogonadism, Hypocalcemia	ORPHA:163693
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Eosinophilia, I...	ORPHA:183
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Hyperhidrosis, Elevated circulating parathyroid hormone level, Ph...	ORPHA:653
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Anorexia, Increased serum lactate, Ketoacidosis, Leukocytosis, Diarrhea,...	ORPHA:134
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Decreased level...	OMIM:614652
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Pallor, Anemia	ORPHA:75563
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Generalized osteosclerosis...	ORPHA:416
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal...	OMIM:606407
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Micrognathia, Splenomegaly, Renal hypoplasia, Feeding difficulties, Nep...	OMIM:617913
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Renal Tubular Acidosis Iii	Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcino...	OMIM:267200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Elevated circulating thyroid-stimulat...	OMIM:618183
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ...	OMIM:603041
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Hyponatremia, Urinary incontinence, Dysuria...	ORPHA:79276
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, ...	OMIM:229600
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Diarrhea, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesoph...	OMIM:608971
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Secondary Short Bowel Syndrome	Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Vomiting, Abnormal smal...	ORPHA:95427
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:404
3-Methylglutaconic Aciduria Type 4	Cataract, Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hy...	ORPHA:67048
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, A...	OMIM:224120
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functiona...	ORPHA:29073
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting, Hypergalactosemia, F...	OMIM:230350
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Nausea, Extraa...	ORPHA:29072
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep...	ORPHA:1830
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Postnatal growth retardation, Rectal pro...	ORPHA:508
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre...	OMIM:500009
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Hyperhidrosis, Vomiting...	ORPHA:94093
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Increased serum lactate, Abnormal circulating tyrosin...	ORPHA:79096
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Increased serum lactate, Neutropenia, Hyperammonemia, Fee...	OMIM:618253
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re...	OMIM:118450
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate	OMIM:614741
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Flexion contracture, Dilated cardiomyopathy, Hydrops fetalis, Devel...	OMIM:618815
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Isovaleric Acidemia	Pancytopenia, Ketoacidosis, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Metabolic acidos...	OMIM:243500
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chro...	OMIM:251000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Metabolic acidosis	ORPHA:91130
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Diarrh...	ORPHA:56425
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco...	ORPHA:100083
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, M...	OMIM:251110
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Exercise-induced rhabdomyolysis, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney di...	ORPHA:284426
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Failure to thrive, Elevated circ...	ORPHA:2394
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Diabetes Mellitus, Ketosis-Prone	Ketoacidosis	OMIM:612227
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Dehydration, Bloody diarrhea, La...	ORPHA:99826
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, High palate...	OMIM:615330
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Diarrhea, Skin ulcer, Weight loss, Leukopenia, Failure...	ORPHA:33355
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul...	OMIM:614582
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, L...	ORPHA:26791
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria,...	OMIM:615398
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto...	OMIM:615453
Ectopic Aldosterone-Producing Tumor	Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231632
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Edema, Abnormal circulating...	ORPHA:79277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis	OMIM:150170
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Increased serum lactate, Feeding difficulties, Lactic acidosis, ...	OMIM:616974
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Poor appetite, Lactic acidosis, Hypoalbuminemia, Hepatic...	ORPHA:247598
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytope...	ORPHA:300298
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Nausea and vomiting, Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism,...	ORPHA:83601
Hyperparathyroidism-Jaw Tumor Syndrome	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:99880
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Short stature, Cachexia, Redundant skin, Abnormal circulating creatine con...	ORPHA:52503
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic...	ORPHA:289504
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hyponatremia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:620157
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Lymphadenitis, ...	OMIM:615895
Liddle Syndrome 1	Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldo...	OMIM:177200
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Short stature, Increased serum lactate, Ragged-red muscl...	ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Increased serum lactate, Hyperammonemia, Feeding difficu...	OMIM:614702
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Renal hypoplasia/aplasia, Micrognathia, Thin vermilion border, H...	ORPHA:1438
Parathyroid Carcinoma	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating...	ORPHA:417
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia, Feeding difficulties	OMIM:143860
Renpenning Syndrome	Mandibular prognathia, Diabetes mellitus, Macrodontia, Hypospadias, Cachexia, Severe short statur...	ORPHA:3242
Cog7-Cdg	Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the kidney, Elevated c...	ORPHA:79333
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype...	OMIM:614492
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria, Neonatal death	OMIM:617184
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chr...	ORPHA:209964
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Abdominal pain, Malabso...	ORPHA:398063
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Anorexia, Increased serum lactate, Reye syndrome-lik...	ORPHA:20
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Diarrhea, Nephrolithiasis, Dehydration, Hematuria, Vomiting, ...	ORPHA:35710
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Failure to thrive, Short stature, Elevated circulating C-reactive ...	OMIM:616050
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ...	ORPHA:98870
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Peptic ulce...	OMIM:145981
Cardiomyopathy, Dilated, 2C	Increased serum lactate	OMIM:618189
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Variegate Porphyria	Abdominal pain, Porphyrinuria, Increased urinary porphobilinogen, Increased fecal protoporphyrin ...	OMIM:176200
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acido...	OMIM:614096
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Alg12-Cdg	Hyponatremia, Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Hypospadias...	ORPHA:79324
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria, Anemia, Ectopia lentis	OMIM:238700
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Abnormal oral c...	ORPHA:900
Combined Oxidative Phosphorylation Deficiency 5	Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Growth delay...	OMIM:611719
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Metabolic acidos...	OMIM:606824
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa...	ORPHA:172
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglutamatemia, Hypoargininemia, Increased serum lactate, Chronic diarrhea,...	OMIM:620358
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Macrocytic anemia, Increased serum lactate, Methylmalonic aciduria, Lact...	OMIM:615578
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased serum lactate	OMIM:619196
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Malonyl-Coa Decarboxylase Deficiency	Short stature, Left ventricular noncompaction cardiomyopathy, Diarrhea, Dilated cardiomyopathy, M...	OMIM:248360
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Ric...	OMIM:616026
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Or...	ORPHA:32960
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Short stature, Anorexia, Nephrogenic diabe...	ORPHA:223
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Abnormal large int...	ORPHA:2198
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short stature, Elevated circulating thyroid-stimulating hormone conce...	OMIM:612462
Preeclampsia/Eclampsia 1	Proteinuria, Edema, Hypertension, Intrauterine growth retardation, Thrombocytopenia	OMIM:189800
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o...	ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Toe syndactyly, Cataract, Increased serum lactate, Dysphagia, Dehydration, Metaboli...	OMIM:618958
Hereditary Folate Malabsorption	Nausea and vomiting, Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Me...	ORPHA:90045
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:255125
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Metabolic acidosis, Dis...	OMIM:618247
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad...	ORPHA:3226
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia...	ORPHA:797
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Constipation, Type II diabetes m...	ORPHA:225
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Short stature, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Elevated lactate:pyruvate ratio, Increased serum lactate...	OMIM:609060
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,...	OMIM:618963
Isolated Atp Synthase Deficiency	Hepatomegaly, Cataract, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, ...	ORPHA:254913
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe...	OMIM:602080
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Leiomyosarco...	ORPHA:116
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Feeding diffic...	ORPHA:276575
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren...	ORPHA:90795
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate	ORPHA:45
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp...	OMIM:145600
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Hypochrom...	ORPHA:54028
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Lactic acidosis, High palate, Long philtrum, Delayed puberty, Anemia	ORPHA:2598
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m...	ORPHA:897
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Lymphedema, Abnormal femur m...	ORPHA:324
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Ketoacidosis, Feeding difficulties, Lactic acidosis, Meta...	OMIM:246900
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In...	ORPHA:93941
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short femur, Short stature, Cataract, Polyhydramnios, Cleft hard palate, Submucous cleft hard pal...	OMIM:300990
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Pituitary Apoplexy	Nausea and vomiting, Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:95613
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Everted lower lip vermilion, Decreased body weight, Abnormal...	ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Growth delay, Vomitin...	OMIM:618226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, H...	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased serum lactate	OMIM:618244
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Lower limb muscle we...	OMIM:251900
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Polyhydramnios, Abnormal left ventricular fun...	OMIM:301056
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Increased serum lactate, Congestive heart failure, ...	OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Flexion contracture, Metabolic acidosis, Myopathy, Neonatal death, Intra...	OMIM:618237
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemi...	ORPHA:89937
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph...	OMIM:612089
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Dental malocclusion, Sho...	ORPHA:2471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614496
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Increased...	OMIM:614105
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Lactic acidosis,...	OMIM:618805
Hypoadrenocorticism, Familial	Hyponatremia, Adrenal hypoplasia, Feeding difficulties in infancy, Hyperkalemia, Vomiting, Adrena...	OMIM:240200
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive h...	OMIM:269920
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, na...	ORPHA:79076
Lysinuric Protein Intolerance	Leukopenia, Aminoaciduria, Vomiting, Nausea, Hepatomegaly, Short stature, Anemia, Increased serum...	OMIM:222700
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Facial palsy, Splenomegaly, Thromb...	OMIM:611490
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Vomiting, Hyperkalemic metabolic acidos...	ORPHA:90794
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph...	ORPHA:428
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne...	OMIM:266130
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome...	OMIM:232220
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Vomiting, Fail...	OMIM:614480
Vipoma	Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular t...	ORPHA:97282
Chromosome 14Q11-Q22 Deletion Syndrome	Anterior pituitary hypoplasia, Proportionate short stature, Elevated circulating thyroid-stimulat...	OMIM:613457
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Hsd10 Disease, Infantile Type	Cardiomegaly, Increased serum lactate, Gastrointestinal dysmotility, Hyperammonemia, Lactic acido...	ORPHA:391428
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Abnormality of the liver, Intrauterine growth retardation, Thrombo...	ORPHA:1980
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e...	OMIM:264700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, High pala...	OMIM:619053
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, I...	OMIM:617713
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Increased serum lactate, Hip dysplasia, 3-Methylglutaconic aciduria, D...	ORPHA:496790
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, ...	ORPHA:98849
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Pyruvate Carboxylase Deficiency	Elevated lactate:pyruvate ratio, Anorexia, Lactic acidosis, Vomiting, Hypoglutaminemia, Hepatomeg...	ORPHA:3008
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, In...	ORPHA:99901
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdomi...	ORPHA:822
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline...	ORPHA:276580
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphol...	ORPHA:2370
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Gastroesophageal reflux, Hypoalbuminemia, Abnormal esophagus morphology, Decreased serum zinc, Co...	ORPHA:89842
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ...	ORPHA:42642
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial i...	ORPHA:904
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat...	ORPHA:884
Autosomal Recessive Primary Microcephaly	Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical ...	ORPHA:2512
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Hepatomegaly, Hyponatremia, Elevated circulating creatine kinase...	OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis, Hepatomegaly, Episodic vomiting, Feeding difficulties	OMIM:618224
Bacterial Toxic-Shock Syndrome	Myositis, Elevated circulating creatine kinase concentration, Edema, Increased circulating myeloc...	ORPHA:36234
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Mala...	ORPHA:47
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Holoprosencephaly	Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Deep philtrum, G...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Lactic acidosis, Intrauterine growth retardation, Hypertrophic cardiom...	OMIM:620135
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymphadenopathy, Hepatosplenomegaly, Enlarged mes...	OMIM:209950
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B lymp...	OMIM:619164
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Feeding difficulties, Decreased ...	ORPHA:276556
Glycogen Storage Disease Ia	Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Hepatocellular carcinoma, Hyperl...	OMIM:232200
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool...	OMIM:619868
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor, Anorexia	ORPHA:79283
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Short stature, Anorexia, Megaloblastic anemia, Diarrhea, Pallor, Thrombocytopenia	ORPHA:49827
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, High, narrow palat...	ORPHA:228308
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate...	OMIM:619147
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis, Micrognathia, Increased serum lactate, Renal hypop...	OMIM:604273
Silver-Russell Syndrome	Dental crowding, Hypospadias, Cachexia, Micrognathia, Failure to thrive in infancy, Precocious pu...	ORPHA:813
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Skeletal muscle atrophy, Lacticaciduria, Methylmalonic aciduria,...	OMIM:245400
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level	ORPHA:930
Ddost-Cdg	Short stature, Nephrotic range proteinuria, Dry skin, Gastroesophageal reflux, Constipation, Prim...	ORPHA:300536
Ethylene Glycol Poisoning	Lactic acidosis, Elevated serum anion gap, Vomiting, Hypocalcemia, Nausea, Facial palsy, Renal tu...	ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis	OMIM:618243
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi...	OMIM:210210
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentr...	ORPHA:1930
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in i...	OMIM:257200
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc...	OMIM:253270
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop...	ORPHA:3261
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Feeding difficulties in infancy, Nephrogenic diabetes insipidus, Megacys...	OMIM:125800
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Hyp...	OMIM:304800
Apparent Mineralocorticoid Excess	Short stature, Metabolic alkalosis, Growth delay, Hypertension, Hypokalemia, Decreased circulatin...	OMIM:218030
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharynge...	OMIM:616878
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive...	OMIM:619381
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat...	ORPHA:141152
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Chronic diarrhea...	OMIM:601675
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Failure to thrive, Feeding difficulties, Metabolic acidosis, Vomiting, Acidosis	OMIM:618235
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid...	OMIM:312170
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia	OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Protein-losing enteropathy, Lacticaciduria, Hyperglycinemia	OMIM:619063
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis	OMIM:616095
Glycogen Storage Disease Ic	Spider hemangioma, Lactic acidosis, Inflammation of the large intestine, Hepatoblastoma, Decrease...	OMIM:232240
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Failure ...	OMIM:606812
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Feeding difficulties, Short phi...	OMIM:616801
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Gastroesophageal reflux, Decreased ...	ORPHA:70472
Osteogenesis Imperfecta	Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology...	ORPHA:666
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Feeding difficulties, Metabolic acidosis, Hyperlysinuria, Decreased plas...	OMIM:616034
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:615926
Preeclampsia	Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Osteomalacia, Bone cyst, Genu varum, Nephrolithiasis, Osteoly...	ORPHA:93160
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Gracile Bone Dysplasia	Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skull ossification, Sle...	OMIM:602361
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Corneal opacity, Unilateral renal agenesis, Abnormal stomach ...	ORPHA:281090
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo...	ORPHA:99845
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ...	ORPHA:293978
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Short stature, Lymphedema, Hypohidrosis, Hypoc...	ORPHA:1563
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized aminoaciduria, Ren...	OMIM:231680
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Facial edema, Periorbital edema, Odynophag...	ORPHA:319213
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:620010
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria	OMIM:602199
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro...	ORPHA:14
Neurodegeneration With Brain Iron Accumulation 8	Increased serum lactate	OMIM:617917
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f...	ORPHA:3152
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Increased total bilirubin	ORPHA:90037
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, P...	ORPHA:79259
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites	ORPHA:168811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Feeding difficulties in infancy, Hepatocellular necrosis, Lactic acidosis, Vomiting, Hypoalbumine...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Polyhydramnios, Increased serum lactate, Congestive heart failure, Ragg...	OMIM:616794
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum lactate	OMIM:545000
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani...	OMIM:614739
Axial Mesodermal Dysplasia Spectrum	Short stature, Micrognathia, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anoma...	ORPHA:1834
Winchester Syndrome	Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General...	OMIM:277950
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal...	ORPHA:289157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, In...	OMIM:617069
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Christianson Syndrome	Mandibular prognathia, Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia	ORPHA:85278
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Short stature, Corneal opacity, Splenomegaly, Jaundice, Anemia, Aplasia/H...	ORPHA:290
Propionic Acidemia	Hepatomegaly, Organic aciduria, Constipation, Hyperammonemia	ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Vomiting, Severe lactic acidosis, L...	OMIM:618228
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h...	OMIM:603233
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia	ORPHA:6
Familial Expansile Osteolysis	Hydroxyprolinuria, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition...	OMIM:619445
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol...	OMIM:210200
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre...	OMIM:619573
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, High, narrow palate, Metabolic acidosis, Renal tubular acidosis, Hematochezia, Chr...	OMIM:619575
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi...	OMIM:540000
Mccune-Albright Syndrome	Abnormal femur morphology, Gastroesophageal reflux, Aneurysmal bone cyst, Benign gastrointestinal...	ORPHA:562
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc...	ORPHA:2796
Combined Oxidative Phosphorylation Deficiency 31	Micrognathia, Increased serum lactate, Feeding difficulties, Wide mouth, Lactic acidosis, Hyperal...	OMIM:617228
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Hyperostosis Corticalis Generalisata	Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology...	ORPHA:3416
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased serum lactate	OMIM:617613
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lactic acidosis, Growth delay, Hyperuricemia, H...	OMIM:306000
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Neonatal hyperbilirubinemia, Reye syndrome-like episode...	ORPHA:348
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperli...	ORPHA:1414
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Diabetes mellitus, Abnormality of the kidney, Decreased...	ORPHA:391372
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid...	OMIM:619073
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Cataract, Short stature, Abnormal circulating calcium-phosphate regulating ho...	ORPHA:2238
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hepatomegaly, Hypoplasia of the femoral head, Short st...	OMIM:607014
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, An...	ORPHA:330015
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact...	OMIM:605711
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomeg...	ORPHA:1046
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Feeding difficulties, Lactic acid...	OMIM:615595
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Hepatosplenomegaly, Lym...	ORPHA:98850
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, P...	ORPHA:71212
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Corneal opacity, Cleft palate, Reduced bone mineral den...	ORPHA:577
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Abdominal...	ORPHA:90362
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Ventric...	ORPHA:36913
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Corti...	ORPHA:94089
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lactic acidosis, Increased serum lactate, Left ventricular hypertrophy, Increased urine alpha-ket...	OMIM:614458
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Biliary cirrhosis...	OMIM:219700
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma...	ORPHA:210110
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Lactic acidosis, Aminoaciduria, High palate, Bone m...	OMIM:614520
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenom...	ORPHA:3386
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis	ORPHA:86893
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Hyper...	OMIM:105200
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturat...	OMIM:194050
Metatropic Dysplasia	Severe short stature, Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossifica...	ORPHA:2635
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Vomiting, P...	OMIM:618252
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Diabetes mellitus, Supraventricular arrhythmia, Increased serum lactate, Cardiomyopathy, Leg musc...	ORPHA:320360
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Cachexia, Micrognathia, Naso...	ORPHA:371364
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Limbal dermoid, Calvarial hyperostosis, Lymphangioma, Mandibul...	OMIM:176920
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Short stature, Camptodactyly of finger, Corneal opacity, Then...	OMIM:607015
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration...	OMIM:614576
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, ...	OMIM:274000
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Abnormal circulating calcium concentration, Reduced bone...	OMIM:619795
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Cataract, Episodic hyperhidrosis, Jaundice, Chronic kidney dis...	ORPHA:469
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Childhood-onset short-trunk short stature, Disproportionate short-trunk ...	OMIM:271630
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:33226
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Ile...	OMIM:300352
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris...	ORPHA:1473
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur...	ORPHA:1933
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Alpha-Mannosidosis, Adult Form	Osteopenia, Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Ol...	ORPHA:309288
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration, Developmental cataract, Abnormal m...	ORPHA:330054
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal intest...	OMIM:606528
Infant Botulism	Hyponatremia, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Constipation, Dysphagia	ORPHA:178478
Moynahan Syndrome	Short stature, Hypogonadism, Cachexia	ORPHA:2574
Schimke Immunoosseous Dysplasia	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal T cell morph...	OMIM:242900
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Short s...	OMIM:259720
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Micrognathia, Gingival overgrowth, Narrow palate, Thick vermilion border, High palate, ...	OMIM:618186
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Short stature, Facial palsy, Generalized osteosclerosis, Genu valg...	ORPHA:53
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain	OMIM:118830
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Hip dislocation, ...	ORPHA:2484
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced ...	ORPHA:970
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Corneal...	ORPHA:812
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperh...	ORPHA:79282
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate	ORPHA:2432
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Microsporidiosis	Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Rabin-Pappas Syndrome	Mandibular prognathia, Hyponatremia, Failure to thrive in infancy, Micrognathia, Obesity, Feeding...	OMIM:620155
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Partial absence o...	ORPHA:476126
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Micrognathia, Lack of skin elasticity, Weight loss, Narrow mouth, Type I diabetes melli...	ORPHA:1979
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive	OMIM:269840
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Monosomy 13Q34	Hypercalcemia, Epistaxis, Postaxial hand polydactyly, Fetal pyelectasis, Postaxial foot polydacty...	ORPHA:96168
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Increased serum lactate, Microvesicular hepatic steatosi...	OMIM:618528
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Abdom...	OMIM:619377
Combined Oxidative Phosphorylation Deficiency 45	Increased serum lactate, Failure to thrive, High palate	OMIM:618951
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau...	ORPHA:75234
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Neuroendocrine Neoplasm Of Appendix	Poor appetite, Anorexia, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Familial Dysautonomia	Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Hyponatremia, Abnormality of...	ORPHA:1764
Developmental And Epileptic Encephalopathy 82	Short stature, Feeding difficulties in infancy, Increased serum lactate, Hyperammonemia, Decrease...	OMIM:618721
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Neutropenia, ...	ORPHA:175
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased serum lact...	OMIM:617070
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Increased serum lactate, Splenomegaly, Postnatal growth retar...	OMIM:613027
Flynn-Aird Syndrome	Cachexia, Carious teeth, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ul...	ORPHA:2047
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Hypomagnesemia, Small hand, Short foot, Slender long bone, Birth len...	OMIM:244460
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Feeding dif...	ORPHA:682
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Mucopolysaccharidosis, Type Vii	Flexion contracture, Hydrops fetalis, Narrow greater sciatic notch, Large iliac wing, Proximal ta...	OMIM:253220
Mucopolysaccharidosis Type 7	Corneal opacity, Lymphedema, Metatarsus adductus, Splenomegaly, Hepatitis, Hydrops fetalis, Epiph...	ORPHA:584
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu...	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Increased serum lactate, Ragged-red muscle fibers	OMIM:300816
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Postaxial hand ...	OMIM:235255
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Lactic acidosis, Metabolic acidosis, High palate, Hyperalaninemia	OMIM:245349
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis	OMIM:145260
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Hypercholesterolemia, S...	OMIM:182290
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi...	OMIM:176000
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Feeding difficulties	OMIM:618246
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Thyrotropin-Releasing Hormone Deficiency	Short stature, Constipation, Hypothalamic hypothyroidism, Dry skin, Hypothyroidism	OMIM:275120
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxami...	OMIM:608688
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu...	OMIM:618839
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Micrognathia, Increased circulating farnesol concentra...	OMIM:618156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties, Lact...	OMIM:602473
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Feeding difficulties, Lactic acidosis, Intrauterine growth retardation, ...	OMIM:616198
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Small for gestational age, Feeding difficulties in infancy, Increased serum ...	OMIM:610498
Alpha-Mannosidosis	Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Corneal opacity, Cataract, Spl...	ORPHA:61
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:610773
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg...	ORPHA:550
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Lactic acidosis, Failure to thrive, Hepat...	OMIM:615438
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia, Dry skin, Feeding difficulties, Wide mouth, Growth dela...	ORPHA:217346
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Postaxial hand polydact...	ORPHA:1655
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Wide anterior fontanel, Renal tubular dysfunction, Growth delay, Hyperbilirubinemi...	OMIM:614886
Xq28 (MECP2) duplication	Feeding difficulties in infancy, Functional abnormality of the bladder, Dysphagia, Gastroesophage...	DECIPHER:45
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Nasogastric tube feeding in infancy, Macroglossia, Abnormality of the liver, High p...	ORPHA:254864
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,...	ORPHA:819
D-Glyceric Aciduria	Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol...	ORPHA:941
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm...	ORPHA:10
Developmental And Epileptic Encephalopathy 53	Increased serum lactate	OMIM:617389
Microvillus Inclusion Disease	Villous atrophy, Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Metabolic acidosis, Abnorm...	ORPHA:2290
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Splenomegaly, Hepatosplenom...	OMIM:612526
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Clinodactyly of the 5th toe, Myocardial infa...	ORPHA:108
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hyperglycinuria, Metabolic acidosis, Medium chain dicarboxylic aciduria, Vomiting, ...	OMIM:201450
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis	OMIM:614265
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati...	ORPHA:31825
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Exercise-induced rhabdomyolysis, Tachycardia, Elevated circu...	ORPHA:26793
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Increased serum lactate, Mic...	OMIM:613070
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Ectop...	ORPHA:79445
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short stature, Short toe, Short metatarsal, Pseudohypoparathyroidism,...	OMIM:103580
Fabry Disease	Renal insufficiency, Proteinuria, Corneal dystrophy, Myocardial infarction, Lymphedema, Angina pe...	OMIM:301500
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Short stature, Micromelia, Corneal opacity, Ulnar bowing, Hematuria, ...	ORPHA:1765
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Combined Oxidative Phosphorylation Deficiency 14	Increased serum lactate, Thrombocytopenia, Copper accumulation in liver, Lactic acidosis, Growth ...	OMIM:614946
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G...	ORPHA:289916
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp...	ORPHA:289176
Riboflavin Transporter Deficiency	Hypogonadism, Diabetes insipidus, Cachexia, Dysphagia	ORPHA:97229
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Gastroesophageal reflux	OMIM:615401
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ...	OMIM:620211
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Facial palsy, Cranios...	OMIM:259700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Hypospadias, Gastroparesis, Increased serum lactate, Oligohydramnios, Hyperammonemia, L...	OMIM:614052
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Short ...	ORPHA:79106
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Abscess, Perianal abscess, Lym...	OMIM:618935
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased serum lactate	OMIM:615159
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology	ORPHA:85447
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Dry skin, Ascites, Hypoalbumine...	OMIM:610965
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Liddle Syndrome 2	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618126
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Pallor...	ORPHA:276608
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Postnatal growth retardation, Gastrointestinal dysmotilit...	ORPHA:391417
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Malabsorption, Increased serum lactate, 2-3 toe syndactyly, Lactic acido...	OMIM:616539
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea,...	OMIM:212750
Mitochondrial Complex I Deficiency, Nuclear Type 16	Feeding difficulties, Lactic acidosis, Adrenal insufficiency, Intrauterine growth retardation, Fa...	OMIM:618238
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Abnormal medullary ...	ORPHA:79243
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ...	OMIM:609053
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100082
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Short stature, Corneal opacity...	ORPHA:912
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Malnutritio...	OMIM:612714
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Failure to thrive in infancy, Short stature, ...	OMIM:615547
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat...	ORPHA:94090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum lactate, Vomiting, Increased serum pyruvate, Metabolic acidosis	OMIM:618225
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Increased serum lactate, Increased variability...	ORPHA:238329
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallo...	ORPHA:99931
Cyclic Vomiting Syndrome	Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Vomiting, Pallor, Nausea	OMIM:500007
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:95717
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal w...	OMIM:253010
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Feeding difficulties, Wide ...	OMIM:615419
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Postnatal growth retardation, Failure to thrive, Intrauterine growth retardation	OMIM:615440
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventration, Increased serum lactate, M...	ORPHA:66634
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increased mean ...	OMIM:613839
Diastasis Recti And Weakness Of The Linea Alba	Constipation	OMIM:612198
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer fl...	OMIM:610539
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Stage 5 chronic kidney ...	OMIM:618250
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Myog...	ORPHA:423
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Flexion contracture, Increased urine alpha-ket...	OMIM:619224
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Adamantinoma	Hypercalcemia	ORPHA:55881
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Interstitial Lung And Liver Disease	Hepatic steatosis, Hepatomegaly, Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemi...	OMIM:615486
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Foxg1 Syndrome	Short stature, Feeding difficulties, Severe postnatal growth retardation, Constipation, Gastroeso...	ORPHA:561854
Sandhoff Disease, Juvenile Form	Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive	ORPHA:309162
Cerebrooculofacioskeletal Syndrome 1	Cataract, Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contracture, Osteopo...	OMIM:214150
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ...	OMIM:146200
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Short stature, Corneal opacity, Abnormal toe morphology, Precociou...	OMIM:163200
Hsd10 Mitochondrial Disease	Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis	OMIM:300438
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hy...	ORPHA:834
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Harel-Yoon Syndrome	Corneal opacity, Increased serum lactate, Developmental cataract, Hip dysplasia, Distal amyotroph...	OMIM:617183
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang...	ORPHA:567548
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Gingival overg...	ORPHA:520
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hyperalaninemia, Lower limb muscle weakness, Aciduria	OMIM:617950
Athyreosis	Short stature, Thyroid agenesis, Abdominal distention, Feeding difficulties, Growth delay, Macrog...	ORPHA:95713
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Short stature, Hyper...	OMIM:307030
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Nephrotic syndrome, Hypertension, Type I diabetes mellitus, Nephropat...	ORPHA:1192
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy, Lactic acidosis, Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract, Short stature	ORPHA:1380
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Failure to thrive, Increased serum lactate, Dysphagia	OMIM:613559
Cockayne Syndrome	Urinary incontinence, Feeding difficulties in infancy, Gastroesophageal reflux, Hepatomegaly, Abn...	ORPHA:191
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L...	OMIM:104200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia, Long philtrum, Abnormal palate morphology	ORPHA:1389
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Short stature, Postnatal growth retardation, Sp...	OMIM:620210
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Metabolic acidosis, Growth delay, Aminoaciduria, Gastroesophageal ref...	OMIM:220120
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat...	OMIM:619644
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolyti...	OMIM:619487
Primary Lateral Sclerosis, Juvenile	Difficulty in tongue movements, Pseudobulbar paralysis, Pallor, Dysphagia	OMIM:606353
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Short stature, Cachexia, Deep philt...	ORPHA:647
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets...	OMIM:600081
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Osteoporosis, Metabolic acidosis, Organic aciduria, Decreased sk...	ORPHA:99742
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis...	ORPHA:261222
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Tented upper lip vermilion, Short stature, Urinary incon...	OMIM:618885
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,...	OMIM:617671
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul...	ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocytopenia, Dilated cardiomyopathy...	OMIM:611126
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyr...	ORPHA:39041
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Increased serum lactate, Intraventricular hem...	OMIM:619055
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Tricuspid regurg...	OMIM:253200
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Cataract, Short stature, Corneal opacity, Splenomegaly, Mucop...	ORPHA:585
Coenzyme Q10 Deficiency, Primary, 5	Increased serum lactate, Lactic acidosis, Bradycardia, Left ventricular hypertrophy, Hyperalanine...	OMIM:614654
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple...	ORPHA:79644
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Short stature, Metaphyse...	OMIM:260400
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe...	ORPHA:95716
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Cachexia, Micrognathia, Downturned corners of mouth, Nephropathy	ORPHA:2774
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis, Dysphagia	OMIM:618230
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Increased serum lactate, Hip dislocation, Lactic acidosis, Pulmonary arterial hype...	OMIM:619059
Yellow Fever	Anuria, Elevated circulating creatine kinase concentration, Vomiting, Internal hemorrhage, Nausea...	ORPHA:99829
Ck Syndrome	High palate, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Short sta...	OMIM:614376
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration...	ORPHA:255182
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive,...	OMIM:618495
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Mucopolysaccharidosis Type 1	Short stature, Abnormality of the tonsils, Corneal opacity, Malabsorption, Splenomegaly, Congesti...	ORPHA:579
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Fg Syndrome 2	Constipation, Decreased body weight	OMIM:300321
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Thyroid Hemiagenesis	Thyroid agenesis, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation	ORPHA:95719
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Edema,...	ORPHA:466677
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydrati...	ORPHA:27
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Letterer-Siwe Disease	Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thro...	OMIM:246400
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Periana...	OMIM:301074
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio...	ORPHA:480864
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Anorexia, Cachexia, Carious teeth, Splenomegaly, Feeding...	ORPHA:1328
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Palpebral edema, Metatarsus adductus, Br...	OMIM:214110
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin	ORPHA:90036
Hurler Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Abnormality of the tonsils, Corneal opacity...	ORPHA:93473
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis...	ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Gorham-Stout Disease	Osteopenia, Torticollis, Abnormal pelvis bone morphology, Edema, Osteolysis involving bones of th...	ORPHA:73
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Constipation, Feeding difficulties	ORPHA:468620
Emanuel Syndrome	Broad jaw, Recurrent urinary tract infections, Dental crowding, Intestinal malrotation, Delayed e...	OMIM:609029
Mulibrey Nanism	Hepatomegaly, Short stature, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Microglos...	OMIM:253250
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity	OMIM:103200
Grant Syndrome	Bowing of the long bones, Short stature, Abnormal pelvic girdle bone morphology, Abnormal cortica...	ORPHA:2097
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Feeding difficulties in infancy, Increased body weight, Thin vermilion border, Constipation, Gast...	ORPHA:589905
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Sinusitis, Absence of lymph node germinal center, Diarrhea, T lymphocytopenia,...	ORPHA:277
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Hennekam Syndrome	Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2136
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Feeding difficulties, Intrauterine growth retardati...	OMIM:615010
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Perianal erythema, Poor appetite, Splenomegaly, Diarrhea, Hypogeusia...	OMIM:201100
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Short stature, Jaundice, Macroglossia, Constipation, Hypothyroidism	ORPHA:2349
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Pallor, Neutrope...	ORPHA:124
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th...	ORPHA:85443
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux, Short stature, Corneal opacity, Periorbital edema, Splenomegaly, Muco...	OMIM:272200
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl...	OMIM:620366
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Decreased response to growth hormone stimulation test, Poor appetite, Micrognath...	ORPHA:96182
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo...	ORPHA:3440
Combined Oxidative Phosphorylation Deficiency 32	Increased serum lactate, Horseshoe kidney, Feeding difficulties, Lactic acidosis, Constipation, G...	OMIM:617664
Emanuel Syndrome	Redundant neck skin, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Micrope...	ORPHA:96170
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Anorexia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Throm...	ORPHA:79242
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ...	ORPHA:53035
Muckle-Wells Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Vasculitis, Nephrotic syndrom...	ORPHA:575
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Optic Atrophy 11	Short stature, Increased serum lactate, Splenomegaly, Constipation, Mildly elevated creatine kinase	OMIM:617302
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Renal insufficiency, Cataract, Increased serum lactate, Renal cyst, Nephrocalc...	ORPHA:445038
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ...	OMIM:619167
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e...	OMIM:277440
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Malnutrition, Dy...	OMIM:226600
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubinemia, Splenomegal...	OMIM:607765
Lymphangiectasia, Intestinal	Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain...	OMIM:249100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Hepatic steatosis, Bloody diarrhea, Feeding difficulties	OMIM:615119
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morpholo...	ORPHA:209981
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Microcephaly, Amish Type	Hepatomegaly, Micrognathia, Lactic acidosis, Failure to thrive, Poor suck	OMIM:607196
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic acid...	OMIM:617698
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic st...	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Failure to thrive, Feeding difficulties	OMIM:618229
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Pontocerebellar Hypoplasia, Type 13	Thin upper lip vermilion, Macrodontia, Feeding difficulties, High palate, Short philtrum, Constip...	OMIM:618606
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Pal...	ORPHA:3260
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Abnormality of the kidney, Edema, Protrudi...	ORPHA:93400
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Cataract, Elevated circulating creatine kinase concentration, Increased ...	OMIM:615418
Transaldolase Deficiency	Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangie...	ORPHA:101028
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Diarrhea, Elevated circulating creatinine concentration, Cholestasis, Anemia...	OMIM:608104
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Short stature, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Failure to th...	OMIM:616577
Benign Paroxysmal Torticollis Of Infancy	Vomiting, Pallor	ORPHA:71518
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation	ORPHA:99745
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede...	OMIM:256300
3-Methylglutaconic Aciduria Type 9	Increased serum lactate, 3-Methylglutaconic aciduria, Urinary incontinence	ORPHA:505216
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Congestive heart f...	ORPHA:1194
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil...	OMIM:211600
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive, ...	ORPHA:79303
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena...	OMIM:609757
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi...	OMIM:214900
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis	OMIM:245050
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Abdominal pain, Perianal absces...	ORPHA:2686
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased prop...	ORPHA:169154
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss...	ORPHA:514
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti...	OMIM:618775
Japanese Encephalitis	Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Inappropriate antidiure...	ORPHA:79139
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Methylcobalamin Deficiency Type Cble	Syndactyly, Glomerulopathy, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic ...	ORPHA:2169
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Hashimoto thy...	ORPHA:49041
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Thin bony...	OMIM:265900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Polyhydramnios, Asplenia, Hydrops fetalis, Finger clinodactyly, ...	ORPHA:99776
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, ...	OMIM:619534
Myopathic Ehlers-Danlos Syndrome	Micrognathia, High, narrow palate, Pallor, Failure to thrive, Mildly elevated creatine kinase	ORPHA:536516
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent...	ORPHA:69076
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Short stature, Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone leve...	OMIM:202010
Perrault Syndrome 5	Increased serum pyruvate, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase co...	OMIM:616138
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Hyperhidrosis, Lactic aci...	ORPHA:17
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Oral ulcer,...	OMIM:618852
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Congestive heart failure, Pulmonary arterial hypertension, Short long b...	OMIM:619751
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Short stature, Minimal c...	OMIM:618348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Elevated circulating creatine kinase concentration, Increased serum lactate, Abnor...	OMIM:610131
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal...	OMIM:610198
Acrocephalopolydactyly	Abnormal renal morphology, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Hyperhidrosis, Hepatic fibrosis, Chondroitin sulfate excretion in urin...	OMIM:615273
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:618378
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Megalocornea...	OMIM:252500
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Elevated circulating...	OMIM:617994
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Microcornea, High palate, Clinodactyly of the ...	OMIM:201000
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Nausea and vomiting, Neoplas...	ORPHA:440437
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Wide anterior fontanel, Hydroureter, Hydronephrosis	OMIM:618240
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Ethylmalonic Encephalopathy	Diarrhea, Lactic acidosis, Ethylmalonic aciduria, Failure to thrive, Petechiae	ORPHA:51188
Enteric Anendocrinosis	Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting, Type I diabete...	ORPHA:83620
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Craniosynostosis, Midg...	ORPHA:2409
Immunodeficiency 44	Increased serum lactate	OMIM:616636
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric aci...	OMIM:231670
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Hydrops fetalis, Hepatomegaly,...	ORPHA:355
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Inflammation of the large intes...	OMIM:614700
Rett Syndrome	Short stature, Cachexia, Abnormality of the dentition, Constipation, Gastroesophageal reflux	OMIM:312750
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Abdominal pain, Diarrhea, Elevated urinary ...	OMIM:256700
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th...	ORPHA:2126
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Ileus, Growth delay, High palate, Short philtrum, Long philtru...	OMIM:620156
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Hype...	OMIM:235555
Vici Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, T lymphocytopenia, ...	OMIM:242840
3-Methylglutaconic Aciduria, Type Viib	Cataract, Rhizomelia, Polyhydramnios, Increased serum lactate, Congestive heart failure, Flexion ...	OMIM:616271
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Crumpled long bones, Short stature, Corneal opacity, Isosexual precocious puberty, Me...	ORPHA:2788
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, Pyoderma gangrenosum, Lymph...	OMIM:150550
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction,...	ORPHA:1333
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var...	ORPHA:2072
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Growth delay, Hyperuricemia, Increased hepat...	OMIM:261750
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia, Constipation	ORPHA:526
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
B4Galt1-Cdg	Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Small for gestational age, Elevated ...	ORPHA:79332
Neuroendocrine Tumor Of Stomach	Poor appetite, Anorexia, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger...	ORPHA:100075
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Petechiae, Splenomegaly, Jaundice, Increased circulating ferr...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Hypoalbuminemia...	OMIM:602579
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Short stature, Polyhydramnios, Slender long bone, Abnormal hip bone morp...	ORPHA:1486
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay, Hypoalbuminemia, Hyperna...	OMIM:615508
Fg Syndrome Type 1	Dental crowding, Hypospadias, Abnormal large intestine morphology, Micrognathia, Malrotation of c...	ORPHA:93932
Caspase 8 Deficiency	Short stature, Decreased CD4:CD8 ratio, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Failure ...	OMIM:607271
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Lactic acidosis, Abnormal renal corticomedullary differentiati...	OMIM:617397
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Galactosialidosis	Corneal opacity	ORPHA:351
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninf...	OMIM:603909
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroes...	OMIM:301040
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc...	ORPHA:51208
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High palate, Gastroesoph...	OMIM:613658
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Postnatal growth re...	OMIM:616603
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency ...	OMIM:619488
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Micropenis, Decreas...	OMIM:201750
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Stomach cancer, Hypothyroidism, Intestinal polypo...	ORPHA:1052
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Short stature, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Hypoplasia of penis, Tented upper lip vermilion, Recurrent urinary tract inf...	ORPHA:847
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo...	ORPHA:329971
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hyp...	OMIM:617575
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypohidrosis, Constipat...	ORPHA:163746
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis, Increased variability in muscle fiber diameter, Short stature, Increased intramy...	OMIM:619065
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Vomiting, Hepatic steatosis, Accessory spleen, Hep...	OMIM:619418
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Abnormality of the uri...	ORPHA:702
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Cataract, Increased serum lactate, Pericardial effusion, Elevated urine ...	OMIM:620089
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Oculodentodigital Dysplasia	Clinodactyly, Microcornea, Clinodactyly of the 5th finger, Finger syndactyly, Short hallux, Aplas...	ORPHA:2710
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Open mouth, Constipation, Long philtrum	OMIM:615032
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short stature, Cachexia, Open bite, Thick lower lip vermilion, Obesity, Hype...	ORPHA:85293
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Short stature, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increa...	OMIM:226670
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Short stature, Coxa valga, Genu valgum, Pulmonic stenosis, Hypophosphatemic ri...	OMIM:613312
Coenzyme Q10 Deficiency, Primary, 2	Elevated lactate:pyruvate ratio, Increased serum lactate	OMIM:614651
Syndromic Diarrhea	Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He...	ORPHA:84064
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Co...	OMIM:615630
Gómez-López-Hernández Syndrome	Short stature, Corneal opacity	ORPHA:1532
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, T lymphocytopenia,...	OMIM:619510
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem...	ORPHA:529808
Erythrokeratodermia Variabilis	Diabetes mellitus, Corneal opacity, Short stature, Cataract, Tapered finger, Brachydactyly	ORPHA:317
Farber Disease	Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Short stature, Corneal ...	ORPHA:333
Acute Bilirubin Encephalopathy	Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem...	ORPHA:529799
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Pulmonary Blastoma	Weight loss	ORPHA:64741
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Pericardial effusion, Hepatosplenomegaly, Abnorma...	ORPHA:464329
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi...	OMIM:226990
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Hepatomegaly, Redundant neck skin, Rhizomelia, Diarrhea, Weight loss, Severe...	ORPHA:1842
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Lactic acidosis, Increased hepat...	OMIM:261680
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Osteoporosis, F...	OMIM:184260
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Hepatomegaly, Tachycardia, Increased urinary glycerol	OMIM:229700
Prolidase Deficiency	Hepatomegaly, Petechiae, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Skin ulcer, Anemia, ...	OMIM:170100
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Micrognathia, Lactic acidosis, Long philtrum, Intrauterine growth ...	ORPHA:939
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Optic Atrophy 1	Pallor	OMIM:165500
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614495
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Feeding difficulties in...	ORPHA:90674
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Feeding difficulties, Metabolic acidosis, Vomiting, Failure to thrive	ORPHA:88639
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Short stature, Increased serum lactate, Stress/infection-induced...	OMIM:252011
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration, Foot...	OMIM:615883
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux, Constipation, Thick vermilion border	ORPHA:3137
Congenital-Onset Steinert Myotonic Dystrophy	Tented upper lip vermilion, Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Gastroesopha...	ORPHA:589821
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Coffin-Siris Syndrome 6	Short stature, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Ga...	OMIM:617808
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, Reduced serum alpha-1-antitrypsin	OMIM:613490
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria	ORPHA:93474
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom...	ORPHA:163979
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re...	ORPHA:137675
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Symphalangism affecting the phalanges of th...	ORPHA:2741
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga...	OMIM:250250
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mevalonic Aciduria	Normocytic hypoplastic anemia, Cataract, Short stature, Elevated circulating creatine kinase conc...	OMIM:610377
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Pallor, Hyperhidrosis	ORPHA:29822
Mucolipidosis Iv	Corneal opacity, Achlorhydria, Abnormal abdomen morphology, Hypergastrinemia, Opacification of th...	OMIM:252650
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Esophageal Atresia	Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anoma...	ORPHA:1199
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Carious teeth...	OMIM:619229
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the...	ORPHA:75508
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Anemia of inad...	ORPHA:86839
Diamond-Blackfan Anemia 1	Macrocytic anemia, Failure to thrive, Short stature, Congenital hypoplastic anemia, Micrognathia,...	OMIM:105650
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu...	OMIM:618886
Cranioectodermal Dysplasia 1	High, narrow palate, Tubulointerstitial nephritis, High palate, Hypocalcemia, Hepatic fibrosis, H...	OMIM:218330
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Weight loss, Hyperhidrosis,...	ORPHA:391
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic...	OMIM:193100
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen...	ORPHA:33276
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Bilateral rena...	OMIM:243605
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hepatomegaly, Skeletal muscle at...	OMIM:252010
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Epistaxis...	OMIM:185070
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Cataract, Cholangitis, Increased serum lactate...	OMIM:124000
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Corneal opacity, Splenomegaly, Congestive heart failure, ...	ORPHA:354
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo...	OMIM:602152
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Congeni...	ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Glossoptosis, High palate, Hypospadias, Rhizomelia, Short stature, Hemolytic-uremic s...	OMIM:611209
Alpha-Mannosidosis, Infantile Form	Osteopenia, Oligosacchariduria, Cortical thickening of long bone diaphyses, Hypoplastic inferior ...	ORPHA:309282
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hepatomegaly, Cardiac arrest, Increase...	OMIM:604377
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Polyhydramnios, Increased serum lactate, Developmental cataract, Hypertrophic cardi...	OMIM:618810
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Nausea, Gastrointestinal obstruction, Extr...	ORPHA:100078
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Diabetes insipidus, Elevated circulating creatine kinase concentration, Abeta...	ORPHA:96180
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Micrognathia, Precocious puberty, High, narrow palate,...	OMIM:619312
Charcot-Marie-Tooth Disease, Type 4K	Increased serum lactate	OMIM:616684
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Upper limb undergrowth, Short foot, Toe clinodactyly, Abnormal cortical bone morph...	ORPHA:166277
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Quadriceps muscle weakness, Ragged-red...	ORPHA:254892
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Esophageal ...	ORPHA:3157
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Corneal opacity, Coxa valga, Genu valgum, Reduced bone m...	ORPHA:582
Visceral Myopathy 1	Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di...	OMIM:155310
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia	OMIM:606764
Combined Oxidative Phosphorylation Deficiency 21	Increased serum lactate	OMIM:615918
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Abdomina...	ORPHA:93552
Trichothiodystrophy 3, Photosensitive	Natal tooth, Meckel diverticulum, Failure to thrive, Short stature, Carious teeth, Pyloric stenos...	OMIM:616395
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ...	OMIM:616501
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Diastasis recti, Portal hypertension, Flexion contracture, He...	ORPHA:440713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, ...	OMIM:201475
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Splenomegaly, Disproportionate short-trunk short stature, Genu valgum, Macr...	ORPHA:583
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst...	ORPHA:79404
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Hyp...	ORPHA:36426
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala...	ORPHA:3463
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Hypospadias, Rhizomelia, Edema, Polyhydramnios, Hypoplasi...	OMIM:607143
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral dens...	ORPHA:581
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co...	ORPHA:261494
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Short stature, Abnormality of the tonsils, Splenomegaly, Cardiomyo...	ORPHA:93476
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly, Leukocytosis...	OMIM:611762
Thyroid Dyshormonogenesis 1	Growth delay, Macroglossia, Constipation, Dry skin, Hypothyroidism, Goiter	OMIM:274400
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Exaggerated cupid's bow, Hypospadias, Micrognathia, Feeding difficulties in infancy, Renal atroph...	OMIM:618659
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Premature loss o...	ORPHA:486
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Hypospadias, Increased serum lactate, Lactic acidosis, Growth delay, Hig...	OMIM:619272
Rauch-Steindl Syndrome	Hepatomegaly, Short stature, Micrognathia, Postnatal growth retardation, Bilateral renal hypoplas...	OMIM:619695
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab...	ORPHA:103910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Feeding difficulties, Hypokalemia, Gastroesophageal reflux, Vomiting, Failure to th...	OMIM:618426
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Lactic acidosis...	OMIM:256810
Temple-Baraitser Syndrome	Downturned corners of mouth, Wide mouth, Gastroesophageal reflux, Thick vermilion border, Constip...	OMIM:611816
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphade...	ORPHA:79477
Opsismodysplasia	Short metacarpal, Rhizomelia, Edema, Polyhydramnios, Squared iliac bones, Hypoplastic pubic bone,...	OMIM:258480
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abnormal salivary g...	ORPHA:2298
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature...	ORPHA:420561
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis,...	OMIM:613489
Trichohepatoenteric Syndrome 1	Villous atrophy, Hepatic fibrosis, Hypoalbuminemia, Intractable diarrhea, Bifid uvula, Hepatomega...	OMIM:222470
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po...	OMIM:616959
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Short stature, Growth delay, Everte...	ORPHA:228402
Cardiofaciocutaneous Syndrome 1	Short stature, Abnormality of the dentition, Open bite, Splenomegaly, Micrognathia, Submucous cle...	OMIM:115150
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L...	OMIM:603554
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra...	ORPHA:340
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Diastema, Feeding difficulties, Downturned corners of mouth, Wide mouth...	OMIM:615009
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Iris coloboma, ...	ORPHA:2092
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, An...	ORPHA:732
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96263
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Paganini-Miozzo Syndrome	Mandibular prognathia, Elevated lactate:pyruvate ratio, Hyperalaninemia, Urinary incontinence, In...	OMIM:301025
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Diastema, Abnormal renal morphology, Downturned corners of mouth, Wide ...	ORPHA:329224
Striatonigral Degeneration, Infantile, Mitochondrial	Increased serum lactate	OMIM:500003
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Intrauterine ...	OMIM:610333
Chops Syndrome	Gastroparesis, Short stature, Splenomegaly, High, narrow palate, Obesity, Horseshoe kidney, Downt...	OMIM:616368
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Glossitis, Pancytopenia, Hepatomegaly, Short stature, Megaloblastic anemi...	OMIM:277380
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
22Q11.2 Deletion Syndrome	Polyhydramnios, Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflu...	ORPHA:567
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Fanconi Anemia, Complementation Group D2	Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal d...	OMIM:227646
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hypergonad...	OMIM:600901
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased serum lactate, Torticollis, Elevated circulating creatine kinase concentration, Foot do...	OMIM:619054
Combined Oxidative Phosphorylation Defect Type 27	Increased serum lactate, Ragged-red muscle fibers, Nonimmune hydrops fetalis, Dysphagia	ORPHA:477774
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Edema, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fib...	OMIM:212065
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hypergonad...	OMIM:227650
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cataract, Corneal opacity, Submucous cleft hard pal...	ORPHA:899
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Neoplasm of the adrenal cortex, Short stature, Abnormal large intestine mor...	ORPHA:109
Pontocerebellar Hypoplasia, Type 6	Increased serum lactate, Narrow palate, Feeding difficulties, Gastroesophageal reflux, Failure to...	OMIM:611523
Sotos Syndrome	Ureteral duplication, Flexion contracture, Pedal edema, Gastroesophageal reflux, Vesicoureteral r...	ORPHA:821
Osteogenesis Imperfecta, Type X	Osteopenia, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Pyloric...	OMIM:613848
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Hyperthyroidism, Skeletal muscle atrophy, Decreased response to gr...	ORPHA:488632
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Gastritis, Pericarditis, S...	ORPHA:809
Infantile Dystonia-Parkinsonism	Gastroesophageal reflux, Abnormal circulating carboxylic acid concentration, Constipation, Feedin...	ORPHA:238455
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased serum lactate	OMIM:301020
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elev...	ORPHA:97287
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Limb ...	OMIM:618961
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Increased serum lactate, Skeletal muscle atrophy, Delayed menarche	ORPHA:330050
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Renal phosphate wasting, Hypophosph...	OMIM:612287
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop...	OMIM:615387
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Failure to thrive, Pu...	OMIM:613179
Fucosidosis	Hepatomegaly, Decreased muscle mass, Corneal opacity, Cardiomegaly, Abnormality of the gallbladde...	ORPHA:349
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s...	ORPHA:65682
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Constipation, Gastroesophageal reflux, Long philtrum, Nausea	ORPHA:466926
Skraban-Deardorff Syndrome	Micrognathia, Absent cupid's bow, Cleft palate, Feeding difficulties, Widely spaced teeth, Consti...	OMIM:617616
Acquired Methemoglobinemia	Tachycardia, Syncope, Vomiting, Palpitations, Arrhythmia, Acidosis, Methemoglobinemia	ORPHA:464453
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yellow urine, Atretic gallbladder,...	ORPHA:30391
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Diarrhea, Hepa...	OMIM:613812
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Schwartz-Jampel Syndrome	Pursed lips, Short stature, Elevated circulating creatine kinase concentration, Cachexia, Microgn...	ORPHA:800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils...	ORPHA:381
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ...	OMIM:259600
Peroxisome Biogenesis Disorder 8B	Elevated circulating phytanic acid concentration, Constipation, Decreased liver function, Dysphag...	OMIM:614877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Muscular dystrophy...	OMIM:613153
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Arachnodactyly, Short stature, Corneal opacity, Cataract, Abnormal thumb morph...	ORPHA:2719
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Increased serum lactate, Lactic acidosis, Cardiomyopathy, Generalized am...	OMIM:617710
Glutathionuria	Constipation, Urinary incontinence, Glutathionuria	OMIM:231950
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft...	OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Increased serum lactate, Hyperprolinemi...	OMIM:619064
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, High, narrow palate, Constipation, Downturned corners of mouth	OMIM:273390
Leukodystrophy, Hypomyelinating, 4	Increased serum lactate, Flexion contracture, Ethylmalonic aciduria	OMIM:612233
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia, Micrognathia, Thick lower lip vermilion, Wide mouth, Downturned corners ...	ORPHA:2058
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Feeding difficulties, Lactic acidosis, 3-Methylglutaconic aciduria, Bile...	OMIM:618329
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Corneal opacity, Polyhydramnios, Scle...	OMIM:609465
Wilson Disease	Acute hepatic failure, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increas...	ORPHA:905
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Renal cyst, Dehydration, Hepatic fibrosis, Neonatal death, ...	OMIM:263200
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla...	OMIM:301068
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Feeding difficulti...	OMIM:614388
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Lactic acidosis, Proximal tubulopathy,...	ORPHA:2609
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Cutaneous s...	OMIM:601005
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Hypergonad...	OMIM:227645
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ...	ORPHA:2584
Rheumatic Fever	Nausea and vomiting, Sinusitis, Anorexia, Abdominal pain, Erythema, Nephrotic syndrome, Constipat...	ORPHA:3099
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Growth delay, Neurogenic bladder, Constipation, Hepatosplenomegaly	ORPHA:466934
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Short stature, Abnormal de...	ORPHA:96264
Jansen-De Vries Syndrome	Thin upper lip vermilion, Short stature, Feeding difficulties, Wide mouth, Constipation, Vomiting...	OMIM:617450
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut...	ORPHA:443811
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response ...	ORPHA:363528
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Angina pectoris, Splenome...	ORPHA:79292
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy, Micrognathia, Feeding difficulties in...	OMIM:618829
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pancreatitis, Pulmonar...	ORPHA:70578
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Failure to thrive, Short stature, Elevated circulating creatine...	OMIM:608779
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Metabolic alkalosis,...	OMIM:616239
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Constipation, Urinary incontinence, Feeding difficulties	OMIM:620094
Biotinidase Deficiency	Hepatomegaly, Metabolic ketoacidosis, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Hy...	OMIM:253260
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Renal h...	OMIM:616589
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced tee...	OMIM:617865
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Protruding tongue, Hepatosple...	ORPHA:93399
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Poor a...	OMIM:617799
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Polyhydramnios, Aplasia/Hypoplasi...	ORPHA:2256
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo...	OMIM:237300
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Dys...	ORPHA:537
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis	OMIM:247800
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100080
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Lynch Syndrome	Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Nausea and vomiting, G...	ORPHA:144
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Gastroesophageal reflux, Vomiting, Micropenis, Pelvic kidney, Hypospa...	ORPHA:464311
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Abnormality of the thyroid gland, Mediastinal lymphadenopath...	ORPHA:52417
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Hyperthyroidism, Short stature, Elevated circulating creatine kinase conce...	OMIM:617675
Serotonin Syndrome	Tachycardia, Diarrhea, Rhabdomyolysis, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension,...	ORPHA:43116
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Hydrops fetalis, Renal cyst, High palate, Hepatic fibrosis, Syndactyly, Hypospadias, ...	OMIM:614091
Trisomy 18	Microretrognathia, Short stature, Abnormality of the upper urinary tract, Cachexia, Esophageal at...	ORPHA:3380
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Ves...	OMIM:617219
H Syndrome	Hallux valgus, Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Short stature,...	ORPHA:168569
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatome...	OMIM:614866
Coenzyme Q10 Deficiency, Primary, 7	Increased serum lactate, Bradycardia, Dysphagia, Intrauterine growth retardation, Hypertrophic ca...	OMIM:616276
Hijazi-Reis Syndrome	Postnatal growth retardation, Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia, ...	OMIM:301094
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Thrombocytopenia, Splenomegaly, Lymp...	ORPHA:47612
Type 1 Diabetes Mellitus	Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
19P13.3 Microduplication Syndrome	Micrognathia, Precocious puberty, Cleft palate, Growth delay, Thick vermilion border, Short philt...	ORPHA:447980
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Short stature, Obesity, Oligodontia, Vomiting, Constipation, Malar flat...	ORPHA:412035
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fe...	OMIM:232500
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Elevated circul...	ORPHA:230
Leber Optic Atrophy And Dystonia	Increased serum lactate	OMIM:500001
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Increased ser...	OMIM:619737
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hashimoto thyroidi...	OMIM:615688
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ...	ORPHA:464306
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Short toe, Flexion contracture, High palate, Talip...	ORPHA:98791
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundice, Cleft li...	OMIM:251290
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Hepatic cysts, Eosinophilia, Abs...	ORPHA:400
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalange...	ORPHA:2658
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophage...	OMIM:270400
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, High, narrow palate, Ab...	ORPHA:485405
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones	ORPHA:53697
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation, Hyperhidrosis	OMIM:615548
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Developmental And Epileptic Encephalopathy 51	Elevated lactate:pyruvate ratio, Increased serum lactate, Feeding difficulties, Constipation, Fai...	OMIM:617339
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Takayasu Arteritis	Anorexia, Skin ulcer, Hyperhidrosis, Weight loss, Gastrointestinal infarctions, Anemia	ORPHA:3287
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r...	ORPHA:206436
Neurodevelopmental Disorder With Dystonia And Seizures	Hyperhidrosis, Intrauterine growth retardation, Constipation, Feeding difficulties	OMIM:619922
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Ileus, Long-segm...	OMIM:609136
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegal...	ORPHA:36412
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f...	OMIM:610199
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Diabetes mellitus, Proteinuria, Abnorm...	ORPHA:439232
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Urinary incontinence, Hyperhidrosis, Constipation, Intrauterine growth...	OMIM:604320
Morquio Syndrome C	Severe short stature, Corneal opacity	OMIM:252300
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Lymphadenopathy, Weight loss, Macroglossia, Glossitis	ORPHA:2221
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Hematuria,...	ORPHA:90060
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Sho...	OMIM:309900
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di...	OMIM:162300
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ...	OMIM:232600
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Polyhydramnios, Wide anterior fonta...	OMIM:263210
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased serum lact...	OMIM:616479
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Constipation, Feeding difficulties	OMIM:614254
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Increased serum lactate, Clef...	OMIM:614924
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Decreased body weight, Petechiae, Micrognathia, Cardio...	OMIM:608013
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdomina...	ORPHA:90003
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Short stature, Mi...	ORPHA:93296
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Long...	ORPHA:73246
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Short stature, Episodic vo...	OMIM:617360
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:158061
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating C-reac...	ORPHA:767
Retinitis Pigmentosa 51	Pallor, Abnormality of the kidney, Obesity	OMIM:613464
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Renal insufficiency, Eosinophilia, Enanthema, Erythema, Hepatitis, Thyroid...	ORPHA:139402
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Hypogeusia, Elevated circulati...	OMIM:223900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscl...	ORPHA:663
Combined Oxidative Phosphorylation Deficiency 13	Increased serum lactate, Skeletal muscle atrophy, Growth delay, Cataract	OMIM:614932
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Edema, Malabsorption, Abnorma...	ORPHA:2315
Nephroblastoma	Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma	ORPHA:654
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Renal insufficiency, Cataract, Heart block, Splenomega...	ORPHA:773
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Increased serum lactate, Growth delay, High palate, Long philtrum, ...	OMIM:619026
Parkinsonism-Dystonia 1, Infantile-Onset	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:613135
Tuberculosis	Weight loss	ORPHA:3389
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Failure to thrive, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Dilated cardiomyopathy, Hyperhidrosis, Lactic acidosis, Vomiting, Hyperglycinemia, ...	OMIM:614299
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility,...	ORPHA:330001
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, He...	OMIM:615846
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Gastroparesis, Quadriceps muscle weakness, ...	ORPHA:70
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Poor appetite, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis...	ORPHA:324964
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr...	ORPHA:1451
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia	ORPHA:254930
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Decre...	OMIM:607594
Mietens Syndrome	Hypoplasia of the ulna, Severe short stature, Corneal opacity, Cataract, Sclerocornea, Coxa valga...	ORPHA:2557
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Hype...	ORPHA:567546
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi...	ORPHA:79102
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp...	OMIM:613385
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Postaxial hand polyda...	OMIM:216360
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Ulnar deviation of the hand ...	OMIM:214100
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Feeding difficulties in i...	ORPHA:90673
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Hyperhidrosis, Periodon...	ORPHA:1775
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Hyperte...	OMIM:615954
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Anteriorl...	OMIM:618624
Cranio-Osteoarthropathy	Abnormal tibia morphology, Clubbing of toes, Deviation of finger, Joint swelling, Abnormal cortic...	ORPHA:1525
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Short stature, Intestinal malrotation, Abnormality of cartilage ...	ORPHA:3426
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased serum lactate, Failure to thrive, Feeding difficulties	OMIM:617954
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Short stature, Hiatus he...	OMIM:251300
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract, Flexion contracture, Myopathy, Cardiomyopathy, Ethylmalonic aciduria, Weakness ...	OMIM:201470
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Colitis, Decreased basophil cou...	OMIM:618394
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Chronic constipation, High palate, Slender build	OMIM:300676
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaph...	OMIM:613309
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hypospadias, Abnormality of the ureter, Abnormal hip bone morphology, Abnormal ret...	ORPHA:2522
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Cataract, Increased serum lactate, Abnormality of the thyroid gland, Ragged-re...	OMIM:609286
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat...	ORPHA:1349
Brucellosis	Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Le...	ORPHA:1304
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Hip dysplasia, Aminoaciduria, ...	ORPHA:30
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden...	ORPHA:667
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocal...	OMIM:300322
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea, Failure to ...	ORPHA:169160
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Polyhydramnios, Absent thum...	OMIM:603467
Lathosterolosis	Toe syndactyly, Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, I...	OMIM:607330
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hig...	OMIM:605309
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Kniest Dysplasia	Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Cataract, Abnormality of the epiphysis of the...	ORPHA:485
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
White-Sutton Syndrome	Mandibular prognathia, Duplicated collecting system, Short stature, Micrognathia, Obesity, Cleft ...	OMIM:616364
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Short stature, Micrognathia, Postnatal growth re...	OMIM:156200
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Cardiomegaly, Increased serum lactate, Glandular hypospadia...	OMIM:620306
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss...	ORPHA:1332
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Respiratory alkalosis, Protein avoidance, Hyperglutaminemia, Hyp...	OMIM:215700
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Short stature, Edema, Abs...	OMIM:120330
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Wide pubic symphysis, Sev...	ORPHA:239
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Ost...	OMIM:263700
Digeorge Syndrome	Sclerocornea, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Postaxial polydactyly, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Short stature, Autoimm...	ORPHA:391487
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Increased serum lactate, Developmental cataract, Lowe...	ORPHA:319514
Immunodeficiency 36 With Lymphoproliferation	Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lymphatic leukemia, Grow...	OMIM:616005
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Subdural hem...	ORPHA:169802
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Micrognathia, Postnatal growth ...	OMIM:605130
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Ar...	OMIM:603471
Mitochondrial Dna Depletion Syndrome 19	Increased serum lactate, Hypospadias, Microcytic anemia	OMIM:618972
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Hypospadias, Intestinal malrotation, Short stature, Carious teeth, Downturned co...	OMIM:617602
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Heart Block	Feeding difficulties in infancy, Intrauterine growth retardation, Pallor, Hyperhidrosis	ORPHA:60041
Arteriosclerosis, Severe Juvenile	Short stature, Myocardial infarction, Chronic kidney disease, Hypertension, Hip dysplasia, Gastri...	OMIM:208060
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, High palate, Neo...	ORPHA:85212
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Short stature, Thick lower lip vermilion, Feeding difficulties, Downtur...	OMIM:618027
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Pallor, ...	ORPHA:91347
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdom...	ORPHA:746
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Constipation, Feeding difficulties	OMIM:616708
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo...	ORPHA:2137
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Proteinuria, Glomerulonephritis, Gingival overgrowth, Growth delay, Nephrotic syndro...	OMIM:619428
Mucopolysaccharidosis Type 2, Severe Form	Short stature, Camptodactyly of finger, Corneal opacity, Heparan sulfate excretion in urine, Sple...	ORPHA:217085
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Nausea, Jaundice, Diarrhea, Hepatitis, Hyperammonemia, Alkalo...	ORPHA:90062
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Redundant skin, Cleft lip, Abnormal mesentery morpho...	ORPHA:2953
Ataxia-Telangiectasia	Lymphopenia, Diabetes mellitus, Short stature, Type II diabetes mellitus, Delayed puberty, Failur...	ORPHA:100
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Increased serum lactate, Hyperprolinemia, Hyperalaninemia, Limb hypertonia	OMIM:619170
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Decreased body weight, Failure to thrive, Short stature, Feeding diffic...	OMIM:617452
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Chronic diarrhea...	OMIM:619005
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno...	ORPHA:93315
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Nausea and vomiting, Pelvic mass, Anorexia, Elevated carcinoma antigen ...	ORPHA:370348
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Growth delay, Osteopetrosis, Reduced r...	OMIM:618541
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Short stature, Constipation, High palate, Smooth philtrum	OMIM:618480
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Gingival overgrowth, Feeding difficulties, Chronic constipation, High p...	OMIM:616977
Developmental Delay, Hypotonia, And Impaired Language	Constipation, Feeding difficulties, Gastroesophageal reflux, Neutropenia	OMIM:620012
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Corneal opacity, Patellar aplasia, Vesicoureteral reflux,...	ORPHA:96061
Systemic Capillary Leak Syndrome	Renal insufficiency, Abdominal pain, Leukocytosis, Diarrhea, Oliguria, Weight loss, Pancreatitis,...	ORPHA:188
3Mc Syndrome 3	Short stature, Diastasis recti, Corneal opacity, Preaxial polydactyly, Horseshoe kidney, Micropen...	OMIM:248340
Mucopolysaccharidosis Type 2, Attenuated Form	Short stature, Camptodactyly of finger, Corneal opacity, Heparan sulfate excretion in urine, Sple...	ORPHA:217093
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Edema, Short metatarsal, Renal cyst, High palate, ...	OMIM:266920
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Short stature, Intestinal malrotation, Micrognathia, Diastema, Carious ...	OMIM:244450
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Hepatomegaly, Periana...	OMIM:612541
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, Fetal pyelectasis, Constipation, Abdominal pain	OMIM:301058
Leigh Syndrome	Lactic acidosis, Failure to thrive, Increased serum lactate, Hepatocellular necrosis	OMIM:256000
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri...	OMIM:252920
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dys...	ORPHA:2131
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Abnormal circulating porphyrin co...	ORPHA:95159
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Postnatal growth retardation, Micropenis, Wide mouth, Feedi...	ORPHA:2896
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe...	OMIM:300972
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Spastic Paraplegia 54, Autosomal Recessive	Short stature, Urinary incontinence, Bowel incontinence, Constipation, High palate, Dysphagia	OMIM:615033
Pediatric-Onset Graves Disease	Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Intrau...	ORPHA:525731
Mucolipidosis Iii Gamma	Aortic regurgitation, Short stature, Increased serum beta-hexosaminidase, Flat capital femoral ep...	OMIM:252605
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, A...	ORPHA:536471
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Dispropo...	OMIM:253000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Increased serum lactate	OMIM:616277
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Short stature, Shallow anteri...	OMIM:608328
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Hepatosplenomegaly, Macroglossia, Flared iliac wing, Short long bone, Urinary gl...	ORPHA:79255
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S...	OMIM:613091
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac ...	OMIM:212138
Combined Oxidative Phosphorylation Deficiency 27	Increased serum lactate, Microvesicular hepatic steatosis, Hyperammonemia, Feeding difficulties, ...	OMIM:616672
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Nizon-Isidor Syndrome	Thin upper lip vermilion, Hypospadias, Feeding difficulties in infancy, High, narrow palate, Down...	OMIM:618872
Hereditary Central Diabetes Insipidus	Diarrhea, Weight loss, Growth delay, Vomiting, Diabetes insipidus	ORPHA:30925
Fatal Familial Insomnia	Hyperhidrosis, Weight loss, Constipation, Urinary retention, Dysphagia	OMIM:600072
Poliomyelitis	Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea, Absent tonsils	ORPHA:2912
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Diarrhea, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Vomit...	OMIM:560000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Gastrointestinal ...	ORPHA:453499
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Esopha...	ORPHA:2908
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Acrodermatitis Enteropathica	Short stature, Anorexia, Poor appetite, Malabsorption, Chronic diarrhea, Erythema, Cheilitis, Abn...	ORPHA:37
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Renal hypoplasia/aplasia, Absent thumb, Aplas...	ORPHA:1234
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Feeding difficulties in infancy, Wide mouth, Chronic ...	OMIM:618825
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney...	ORPHA:1018
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Erythema, Weight loss	ORPHA:33577
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ...	ORPHA:829
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Hypospadias, Dysphagia, Feeding difficulties, Chronic constipation, H...	OMIM:300260
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Pedal edema, Vomiting, Portal hypertension, Abnormal mese...	ORPHA:284
Lethal Recessive Chondrodysplasia	Micromelia, Polyhydramnios, Edema, Generalized osteosclerosis, Macroglossia, Short long bone, Fla...	ORPHA:1423
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Decreased body weight, Failure to thrive, Short stature, Feeding diffic...	ORPHA:505237
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Facial palsy, Edema, Xerostomia, Stage 5 chronic kidney di...	ORPHA:85448
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Kapur-Toriello Syndrome	Hypoplasia of penis, Intestinal malrotation, Orofacial cleft, Constipation, Failure to thrive	ORPHA:2328
Angelman Syndrome	Mandibular prognathia, Abnormality of the gastrointestinal tract, Precocious puberty in females, ...	ORPHA:72
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Small hand, Cleft palate, Short foot, Hypocalcemi...	OMIM:300712
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Short stature, Corneal opacity, Craniosynostosis, Unilateral renal agenesis, Developmental glauco...	ORPHA:1064
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Short stature, Increased serum lactate, Feeding difficulties, Dysphagi...	OMIM:619847
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Finger clinodactyly, Micropenis, Abs...	ORPHA:1692
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Hepatome...	OMIM:269860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal agenesis, Talipes e...	OMIM:618845
Pyridoxine-Dependent Epilepsy	Lactic acidosis, Feeding difficulties	ORPHA:3006
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Pericardial effusion, Sp...	ORPHA:77261
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Lim...	OMIM:230600
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Hyperhidrosis, Knee flexion co...	ORPHA:3206
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Bi...	ORPHA:567983
Adiposis Dolorosa	Diarrhea, Xerostomia, Obesity, Constipation, Dry skin, Hypothyroidism	ORPHA:36397
Cystic Fibrosis	Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Abnormality of the li...	ORPHA:586
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Obesity, Feeding difficulties, Downturned c...	OMIM:618430
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I...	ORPHA:786
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Short stature, Micrognathia, Narrow mouth, Feeding difficulties, High palate, Gastro...	ORPHA:562528
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, Polyhydramnios, Tapered finger, Increased serum lactate, High, narrow palate, Na...	OMIM:612949
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Short stature, Obesity, Feeding difficulties, Wide mouth, Chronic co...	OMIM:619056
Nelson Syndrome	Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar...	ORPHA:199244
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Malabsorption	ORPHA:1116
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Diarrhea, Lymph...	ORPHA:276
Atelosteogenesis Type I	Short femur, Rhizomelia, Polyhydramnios, Malrotation of colon, Abnormal ossification involving th...	ORPHA:1190
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Movement abnormality of the tongue, Increased serum lactate, Hyperalaninemia	ORPHA:254881
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, Sclerocornea, High, na...	ORPHA:3472
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short stature, Short 3rd toe, Increased serum lactate, Short 2nd toe, Short 5th finger, Short 4th...	OMIM:619060
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Tricuspid regurgitation, Hepato...	ORPHA:505248
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, H...	OMIM:214800
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Intrahepatic cholestasis, Postaxial ...	ORPHA:46059
Greenberg Dysplasia	Micromelia, Polyhydramnios, Patchy variation in bone mineral density, Hydrops fetalis, Tetraphoco...	OMIM:215140
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulce...	ORPHA:99867
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepa...	OMIM:617093
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Hereditary Bullous Dystrophy, Macular Type	Cataract, Short stature, Corneal opacity, Tapered finger, Heart murmur, Growth delay, Short finger	ORPHA:1867
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc...	OMIM:301078
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach...	OMIM:613819
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Diarrhea, En...	OMIM:308230
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension	OMIM:617068
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Respiratory alkalosis, Feeding difficulties in infancy, Protein ...	OMIM:207900
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Iron...	ORPHA:97214
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Autoimmune thrombocytopenia, Chronic constipatio...	OMIM:301069
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Hi...	ORPHA:84
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Thin upper lip vermilion, Hypospadias, Micrognathia, Feeding difficulties, Wide mouth, Widely-spa...	ORPHA:363686
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Viral hepatitis, Renal insufficiency, Membranoprolifer...	ORPHA:91139
Angiostrongyliasis	Projectile vomiting, Poor appetite, Abdominal pain, Hypereosinophilia, Gastrointestinal eosinophi...	ORPHA:74
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Deep philtrum, Cleft palate, Feed...	ORPHA:404440
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Micrognathia, Feeding difficulties, Wide mouth, Chronic constipation, Thick vermil...	OMIM:300986
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Qazi-Markouizos Syndrome	High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,...	ORPHA:3010
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Genu valgum	OMIM:607016
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Lymphedema, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Parkinson Disease 22, Autosomal Dominant	Constipation	OMIM:616710
Stickler Syndrome Type 2	Cataract, Corneal opacity, Cleft palate	ORPHA:90654
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, ...	OMIM:617591
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Anorexia, E...	ORPHA:50918
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele...	OMIM:263400
Thyroid Hypoplasia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Hypothyr...	ORPHA:95720
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Elevated circulating creatine kinase concentration, Elev...	ORPHA:93672
Wagro Syndrome	Cataract, Proteinuria, Corneal opacity, Hypertension, Aniridia, Nephroblastoma	OMIM:612469
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn...	ORPHA:2260
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Chemosis, ...	ORPHA:73263
Intellectual Developmental Disorder, Autosomal Dominant 52	Small for gestational age, Overweight, Feeding difficulties, Downturned corners of mouth, Chronic...	OMIM:617796
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Abnorm...	ORPHA:521411
Lissencephaly 7 With Cerebellar Hypoplasia	Lymphedema, Increased serum lactate, Hand clenching, Neonatal death, Arthrogryposis multiplex con...	OMIM:616342
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Chime Syndrome	Corneal opacity, Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalange...	ORPHA:3474
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Clinodacty...	OMIM:243800
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Constipation, High nonceruloplasmin-bound serum copper, Retrognathia, Thrombocytopenia, Gastrosto...	ORPHA:457351
Rubinstein-Taybi Syndrome	Failure to thrive in infancy, Short stature, Abnormality of the dentition, Carious teeth, Feeding...	ORPHA:783
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetric septal hyper...	OMIM:252900
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Celiac disease, Absent cupid's bow, Constipation, Feeding difficulties	ORPHA:284169
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Short stature, Petechiae, Feeding difficulties in infancy, Sple...	OMIM:225750
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Short stature, Chronic constipation, Gastroesophageal reflux, Long philtru...	OMIM:619721
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Hypospadias, Intestinal malrotation, Cleft upper lip, Micrognathi...	OMIM:305450
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Bowel incontinence, Micrognathia, Elevated circulating creatine kinase conc...	OMIM:617193
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Ab...	ORPHA:892
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Polyh...	OMIM:618188
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Abnormal lymphatic vessel morphology, Leukopeni...	ORPHA:2330
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Gastroeso...	OMIM:611961
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Hypogonadotropic hypogonadism, Dysuria, Retr...	ORPHA:35687
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hyperamm...	OMIM:618641
Cryptogenic Organizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig...	ORPHA:1302
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Rena...	OMIM:619321
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased serum lactate, Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscl...	ORPHA:137898
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi...	OMIM:615873
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Foot joint contracture, Postnatal growt...	ORPHA:90321
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Polyhydramnios...	ORPHA:818
Ohdo Syndrome, X-Linked	Micrognathia, Hiatus hernia, Feeding difficulties, Thin vermilion border, High palate, Widely spa...	OMIM:300895
Prolactinoma	Nausea and vomiting, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating gro...	ORPHA:2965
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Cervical lymphadenopathy, Chronic diar...	OMIM:142680
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia,...	ORPHA:142
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Protruding tongue, Obesity, Feeding difficulties, Wide mouth, Constipation...	ORPHA:98794
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Growth delay, Bone marrow hypocellularity, Anal atresia, Pelvic k...	OMIM:617244
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Edema, Pituitary adenoma, Osteoporosis, Nephrolithiasis, Alkalosis, Incr...	OMIM:219090
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Cleft palate, Furrowed tongue, High palate, Short philtr...	OMIM:616449
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:1267
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Feeding difficulties in infa...	OMIM:105830
Fg Syndrome 5	Diastema, Chronic constipation, Hypospadias, Long philtrum	OMIM:300581
Seckel Syndrome	Short stature, Abnormal dental enamel morphology, Cachexia, Micrognathia, Tooth agenesis, Intraut...	ORPHA:808
Fucosidosis	Hepatomegaly, Absent/hypoplastic paranasal sinuses, Anhidrosis, Short stature, Cardiomegaly, Sple...	OMIM:230000
Intellectual Developmental Disorder, X-Linked 99	Hypospadias, Ectopic kidney, Chronic constipation, Gastroesophageal reflux, Intrauterine growth r...	OMIM:300919
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetric septal hyper...	OMIM:252930
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss	ORPHA:411593
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit...	ORPHA:319218
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, P...	OMIM:613320
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Short Syndrome	Posterior embryotoxon, Severe short stature, Diabetes mellitus, Corneal opacity, Abnormal pupil m...	ORPHA:3163
Peters Plus Syndrome	Ureteral duplication, Micromelia, Polyhydramnios, Microcornea, Clinodactyly of the 5th finger, Sp...	ORPHA:709
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Postnata...	ORPHA:96179
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Macroglossia, High palate, Protuberant abdo...	OMIM:269921
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased serum lactate, Lactic acidosis, Growth delay, Hypertrophic cardiomyopathy, Joint contra...	OMIM:614462
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Vomiting, Neutropenia, Juvenile c...	ORPHA:221008
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:228371
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Polyhydramnios, Ren...	OMIM:229850
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Narrow ...	OMIM:619720
Acute Transverse Myelitis	Gastroparesis, Urinary incontinence, Decreased circulating copper concentration, Abscess, Paralyt...	ORPHA:139417
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Rhabdomyol...	ORPHA:159
Oculomaxillofacial Dysostosis	Brachydactyly, Short stature, Camptodactyly of finger, Corneal opacity, Abnormality of the humeru...	ORPHA:1794
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,...	OMIM:615934
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Protruding tongue, Gingival overgrowth, Feeding difficulties, Chronic constipation...	OMIM:619179
Icf Syndrome	Short stature, Abnormality of neutrophils, Protruding tongue, Micrognathia, Malabsorption, Macrog...	ORPHA:2268
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, De...	OMIM:249420
Rett Syndrome	Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Cholecystitis, Increased serum...	ORPHA:778
Basilicata-Akhtar Syndrome	Tented upper lip vermilion, Precocious puberty, Feeding difficulties, Downturned corners of mouth...	OMIM:301032
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Corneal opacity, Postnatal growth retardation, Wide anterior fontanel...	ORPHA:357058
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Wide anterior fontanel, Small hand, Antecubital...	OMIM:619339
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Feeding difficulties	ORPHA:101150
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Diarrhea, Dry skin, Lym...	OMIM:617827
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Abnormality ...	ORPHA:2348
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ...	ORPHA:261476
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, Jaundice, Dysphagia, Feeding difficulties, Growth delay, 3-Methylglutari...	OMIM:617248
Q Fever	Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadeno...	ORPHA:781
Weill-Marchesani Syndrome 1	Thin bony cortex, Cataract, Short stature, Proportionate short stature, Ectopia lentis, Microsphe...	OMIM:277600
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis...	OMIM:615962
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Diabetes mellitus, Short stature, Unilateral renal agen...	OMIM:616541
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ...	ORPHA:93126
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia	OMIM:614961
Desmosterolosis	Failure to thrive, Severe short stature, Renal agenesis, Intestinal malrotation, Micrognathia, Re...	ORPHA:35107
Diamond-Blackfan Anemia 6	Macrocytic anemia, Short thumb, Cleft palate, Persistence of hemoglobin F, Growth delay, Mitral r...	OMIM:612561
Jacobsen Syndrome	Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Feeding difficulties in infa...	ORPHA:2308
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Gastroesophageal reflux, Chronic constipation	OMIM:619881
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion...	OMIM:268300
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Weight loss, ...	ORPHA:3208
Pontocerebellar Hypoplasia, Type 9	Short upper lip, Macroglossia, Increased serum lactate, Dysphagia	OMIM:615809
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Spastic Paraplegia 44, Autosomal Recessive	Constipation, Urinary incontinence	OMIM:613206
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Increased blood u...	OMIM:233450
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Short stature, Postaxial polydactyly, Peters anoma...	OMIM:618460
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Short stature, Increased se...	OMIM:252600
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di...	ORPHA:79083
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Giant Cell Arteritis	Renal insufficiency, Diabetes insipidus, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, S...	ORPHA:397
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Feeding difficulties, Anemia, Gastroesophageal reflux, Protu...	OMIM:230900
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Yao Syndrome	Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Oral ulcer, Weight loss	OMIM:617321
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic diarrhea, Feeding difficulties, Chronic constipation, Failure to thrive, Poor suck	OMIM:617788
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Postnatal growth re...	ORPHA:90348
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm...	ORPHA:729
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased serum lactate, Lactic acidosis, Cardiomyopathy, High palate, Generalized amyotrophy, Dy...	ORPHA:572798
Meckel Syndrome	Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu...	ORPHA:564
Incontinentia Pigmenti	Finger syndactyly, Cataract, Short stature, Eosinophilia, Camptodactyly of finger, Corneal opacit...	ORPHA:464
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate, Abnormality of the urinary system, Constip...	OMIM:244300
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Metaphyseal widening, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal scler...	OMIM:618476
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l...	ORPHA:906
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Cockayne Syndrome B	Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Severe short stature, Postnatal growt...	OMIM:133540
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Increased serum lactate,...	ORPHA:255210
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c...	OMIM:311250
Au-Kline Syndrome	Failure to thrive, Chronic kidney disease, Dental malocclusion, Bifid tongue, Cleft palate, Dilat...	OMIM:616580
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Childhood-Onset Spasticity With Hyperglycinemia	Increased serum lactate, Left ventricular hypertrophy, Nonketotic hyperglycinemia	ORPHA:401866
Avian Influenza	Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ...	ORPHA:454836
Mogs-Cdg	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hepatosplenomegaly, Chronic constipatio...	ORPHA:79330
Hyper-Igd Syndrome	Neutrophilia, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Oral u...	OMIM:260920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding, Failure...	OMIM:620352
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Thrombocytop...	ORPHA:292
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet...	OMIM:619080
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Absc...	OMIM:615816
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Cataract, Short stature, Tricuspid regurgitation, Noncompaction ...	ORPHA:508542
Incontinentia Pigmenti	Delayed eruption of teeth, Short stature, Eosinophilia, Conical tooth, Leukocytosis, Erythema, Ol...	OMIM:308300
Stuve-Wiedemann Syndrome 1	Tibial bowing, Femoral bowing, Hyperhidrosis, Knee flexion contracture, Smooth tongue, Short tibi...	OMIM:601559
Tempi Syndrome	Abnormality of the kidney, Facial erythema, Increased hematocrit, Ascites, Polycythemia	ORPHA:284227
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Flared iliac wing, Opacification of the corneal stroma, H...	OMIM:230650
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Poikiloderma With Neutropenia	Short stature, Elevated circulating creatine kinase concentration, Micrognathia, Carious teeth, S...	OMIM:604173
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Dental crowding, Micrognathia, Dysphagia, Feeding difficulties, Chronic...	OMIM:617061
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
1P36 Deletion Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno...	ORPHA:1606
Dravet Syndrome	Pallor	ORPHA:33069
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Splenomegaly...	ORPHA:251066
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula...	ORPHA:95699
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati...	ORPHA:2688
Multiple Osteochondromas	Intestinal obstruction, Urinary retention, Short stature, Dysphagia	ORPHA:321
Acro-Renal-Ocular Syndrome	Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F...	ORPHA:959
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Short sta...	OMIM:256040
Argininemia	Hepatomegaly, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hypera...	OMIM:207800
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absent microvilli on th...	OMIM:301000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Pursed lips, Micrognathia, Constipation, Gastroesophageal reflux, Long philtrum	OMIM:616266
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Small for gestational age, Micrognathia, Increased serum lactate, Microve...	OMIM:220111
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ...	OMIM:608233
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency, Chronic constipation, Short stature, Dysphagia	OMIM:275900
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Chronic constipation, Short-segment aganglionic megacolon	OMIM:619465
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Anhidrosis, Proteinuria, Hepatomegaly, Short stature, Catar...	OMIM:216400
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, High, narrow palate, 2-3 toe cutaneous syndactyly, Femora...	OMIM:600920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,...	ORPHA:99818
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, High, na...	ORPHA:464738
Magel2-Related Prader-Willi-Like Syndrome	Xerostomia, Increased body weight, Downturned corners of mouth, Gastroesophageal reflux, Micropen...	ORPHA:398069
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia, Anorexia, Abnormality of the thyroid gland, Short hard palate	ORPHA:1969
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Oral-pharyngeal dysphagia, Postnatal growth retardation, Cleft palate, Short long bo...	OMIM:619184
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Knee flexion contra...	ORPHA:3103
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm...	ORPHA:158029
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Tented upper lip vermilion, Feeding difficulties, Chronic constipation, Thick vermi...	OMIM:619383
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea...	OMIM:608470
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption, Splenomegaly, M...	ORPHA:93
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:420741
D-Bifunctional Protein Deficiency	Hepatomegaly, Failure to thrive, Fetal ascites, Micrognathia, Feeding difficulties in infancy, Sp...	OMIM:261515
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Kagami-Ogata Syndrome	Pursed lips, Micrognathia, Large for gestational age, Postnatal growth retardation, Feeding diffi...	ORPHA:254519
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Urinary incontinence, Diarrhea, Constipation, Acral ulceration	OMIM:608654
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed...	ORPHA:268261
Scrub Typhus	Renal insufficiency, Splenomegaly, Myocarditis, Lymphadenopathy, Hyperhidrosis, Hypotension	ORPHA:83317
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum lactate	OMIM:619405
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Hematuria, Intracranial hemorrhage, Hyper...	ORPHA:35909
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentratio...	OMIM:219080
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Hypertension, Aplasia/hypoplasia of the femur, Hyperuricemia, Cli...	ORPHA:2769
Alg9-Cdg	Villous atrophy, Hydrops fetalis, Narrow greater sciatic notch, Gastroesophageal reflux, Vomiting...	ORPHA:79328
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Renal insufficiency, Multicystic kidney dysplasia, Portal hypertension, Splenomegal...	ORPHA:1454
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari...	OMIM:615190
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the pineal gland, Micrognat...	ORPHA:369950
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon...	OMIM:114000
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Congenital diaphragmatic hernia, ...	ORPHA:1647
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Micrognathia, Feeding difficulties, Growth delay, Chronic constipation,...	OMIM:619188
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis, Short stature	ORPHA:1170
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Decreased circu...	OMIM:250790
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Scapular winging, Tricuspid regurgitation, Hypophosphaturia, Clinodactyly of the 2nd ...	ORPHA:73223
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor, Dysphagia	ORPHA:13
Ataxia-Telangiectasia	Failure to thrive, Sinusitis, Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-...	OMIM:208900
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Cataract, Intestinal pseudo-obstruction, Gastroparesis...	OMIM:607459
Mccune-Albright Syndrome	Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated c...	OMIM:174800
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation	ORPHA:254504
Hartsfield Syndrome	Median cleft lip, Hypospadias, Cleft upper lip, Gonadotropin deficiency, Cleft palate, Growth del...	OMIM:615465
Renal Nutcracker Syndrome	Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria...	ORPHA:71273
Ramos-Arroyo Syndrome	Severe short stature, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Narr...	ORPHA:1051
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, O...	OMIM:601812
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipatio...	ORPHA:500055
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Bangstad Syndrome	Short stature, Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinem...	ORPHA:1227
Nicolaides-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Short stature, High, narrow pa...	OMIM:601358
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Micrognathia, Postnatal growth retardation, Dysphagia, D...	OMIM:620029
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Short stature, Polyhydramnios, Conjugated hyperbilirubi...	OMIM:608885
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Tapered finger, Cranio...	OMIM:620005
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Gastroesophageal ...	OMIM:618268
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Neurodevelopmental Disorder With Spasticity And Poor Growth	Tented upper lip vermilion, Short stature, High, narrow palate, Feeding difficulties, Growth dela...	OMIM:618076
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Diarrhea, Feeding difficulties, Constipation, High palat...	OMIM:618050
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrosis, Conical tooth, Splenomegaly, Chronic diarrhea, Dry skin, Hypohidrosis, ...	OMIM:612132
Sjogren-Larsson Syndrome	Flexion contracture, Short stature, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced...	OMIM:619752
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Chronic diarrhea, Furrowed tongue, Hematuria, Melena, Keratoconjunctiviti...	OMIM:158310
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Bowel incontinence, Micrognathia, Elevated circulating ...	ORPHA:496641
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis, Feeding difficulties	OMIM:245348
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Ectopic anus, Hypogonadotropic hypogonadism, Short stature	ORPHA:1643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Cleft palate, Buph...	OMIM:236670
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ...	ORPHA:679
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Huntington Disease	Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar...	ORPHA:399
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Episodic abdominal pain, Lact...	OMIM:238600
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail...	OMIM:269250
Neurofibromatosis Type 1	Cataract, Short stature, Corneal opacity, Abnormality of the upper urinary tract, Abnormality of ...	ORPHA:636
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor, Feeding difficulties	ORPHA:439218
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Broad long bones, Edema, Short tubular bones of the hand, P...	OMIM:200610
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Short stature, Congenital diaphragmatic hernia, Sclerocornea, Peters anoma...	OMIM:309801
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid...	ORPHA:411543
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Dry skin, Sclerosing chol...	OMIM:607626
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia, Short stature	ORPHA:66518
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Proteinuria,...	OMIM:619127
Isaacs Syndrome	Hyperhidrosis, Weight loss	ORPHA:84142
Spondyloocular Syndrome	Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, ...	OMIM:605822
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Iron deficiency anemia...	ORPHA:309031
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short stature, Micrognathia, Thick lower lip ver...	OMIM:619297
Iatrogenic Botulism	Xerostomia, Constipation, Urinary retention, Dysphagia	ORPHA:254509
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Gastroesophageal reflux, Vesicoureteral reflux, Hypospadias, Short stature, Supe...	ORPHA:353281
Developmental And Epileptic Encephalopathy 83	Feeding difficulties in infancy, Chronic constipation, Poor suck, Long philtrum	OMIM:618744
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide mouth, Thin upper lip vermilion, Chronic constipation, Smooth philtrum	OMIM:618009
Rat-Bite Fever	Abdominal aseptic abscess, Lymphadenitis, Diarrhea, Weight loss, Anemia, Vomiting, Scaling skin, ...	ORPHA:31205
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Splenomegaly, Lymphadenopathy, Amelogenesis imperfect...	ORPHA:169090
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cataract, Tachycardia, Increased serum lactate, Diarrhea, Dilated cardiomyopathy, V...	OMIM:618321
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ...	OMIM:618371
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Growth delay, Corneal opacity, Peters anomaly	OMIM:120200
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Neonatal death, Feeding difficulties	OMIM:618232
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss, Lymphadenopathy	ORPHA:411703
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly...	ORPHA:85414
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Telangiectasia, Short 2nd toe, Hip dysplasia, Chronic constipation...	OMIM:612582
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Short stature, Cachexia	ORPHA:220295
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Microcornea, Len...	ORPHA:90324
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh...	ORPHA:677
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Sclerocornea, Esophageal atresia, Tracheoesophageal fistula, Gr...	ORPHA:77298
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Rahman Syndrome	Chronic constipation, Redundant skin, Feeding difficulties	OMIM:617537
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Feeding difficulties, Wide mouth, High palate, Gastroesophageal reflux, Con...	OMIM:619934
White-Sutton Syndrome	Duplicated collecting system, Thin upper lip vermilion, Abnormality of the gastrointestinal tract...	ORPHA:468678
Fg Syndrome 3	Chronic constipation, Pyloric stenosis, Feeding difficulties	OMIM:300406
Erythermalgia, Primary	Hyperhidrosis, Diarrhea, Xerostomia, Constipation	OMIM:133020
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Corneal opacity, Craniosynostosis, Growth delay, Hypoalbuminemia, S...	ORPHA:79396
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Diabetes insipidus, Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal ...	ORPHA:423479
Intellectual Developmental Disorder, Autosomal Recessive 76	Chronic constipation, Precocious puberty in females, Feeding difficulties	OMIM:619931
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intrauterine growth retardation, Intestinal malrotation, Micrognathia	ORPHA:3035
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cleft palate, Growth delay, High palate, Ca...	OMIM:614230
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Gastroesoph...	ORPHA:2044
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral ref...	ORPHA:3455
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Feeding difficulties, Growth delay, Constipation, High palate, Widely s...	OMIM:615803
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Chronic constipation, Widely spaced teeth	OMIM:618906
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex...	ORPHA:100086
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Growth delay, Constipation, Increased overbite, Dysphagia, Hydronephrosis	ORPHA:101000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Decreased sweating due to autonomic dysfunction, Pseudobulbar paralysis, Constipation, Bowel inco...	OMIM:169500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Unicoronal synostosis, Squared iliac bone...	OMIM:616300
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,...	ORPHA:93924
Hogue-Janssen Syndrome 2	Chronic constipation, Open mouth, Tented upper lip vermilion, Unilateral renal agenesis	OMIM:616362
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Cataract, Proteinuria, Hypo...	OMIM:609049
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Splenome...	ORPHA:744
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic angiomatosis of bone, Elevated hem...	OMIM:269700
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Short stature, Corneal opacity, Ca...	ORPHA:2962
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Aciduria, Increased serum lactate, Microvesicular hepatic steatosis, Micronodular c...	OMIM:203700
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Marfan Syndrome	Dental crowding, Cachexia, Micrognathia, Open bite, High, narrow palate, Abnormal zygomatic bone ...	ORPHA:558
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Diarrhea, Constipation, Episodic vomiting	OMIM:105210
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Hypertension, Increased circula...	OMIM:615830
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, High palate, Syndactyly, Hepatomegaly, ...	OMIM:613610
Microcephaly 27, Primary, Autosomal Dominant	Chronic constipation, Micropenis	OMIM:619180
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss	ORPHA:99868
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Short stature, Decreased response to growth hormone stimu...	OMIM:616007
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro...	OMIM:158350
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici...	ORPHA:2905
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Cleft upper lip, Feeding difficulties in infa...	ORPHA:50
Meckel Syndrome, Type 1	Adrenal hypoplasia, Asplenia, Lobulated tongue, Iris coloboma, Accessory spleen, Syndactyly, Malf...	OMIM:249000
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Intrauterine growth retardation, Decreased body weight	ORPHA:255138
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Deep philtrum, Gingival overgrowth, Feeding difficulties, Macroglossi...	OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Precocious puberty, Cleft lip, Obesity, Cleft palate, Hepatosplenomegaly, Chronic c...	OMIM:301066
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Monkey wrench femoral neck, Coxa va...	OMIM:615777
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology, Anorexia, Ab...	ORPHA:79430
Isotretinoin-Like Syndrome	Postnatal growth retardation, Cleft palate, Gastroesophageal reflux, Hypocalcemia, Intrauterine g...	ORPHA:2306
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Malnutrition, Hypoalbuminemia, ...	ORPHA:75565
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Hepatomegaly, H...	ORPHA:955
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, ...	ORPHA:93352
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Pure Autonomic Failure	Anhidrosis, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine level, Consti...	ORPHA:441
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Camptodactyly of finger, Facial palsy, K...	ORPHA:90340
Chronic Graft Versus Host Disease	Pancytopenia, Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal strict...	ORPHA:99921
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosis,...	OMIM:613471
Lethal Congenital Contracture Syndrome 10	Torticollis, Cardiomegaly, Increased variability in muscle fiber diameter, Narrow palate, Femoral...	OMIM:617022
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Feeding difficulties, Chronic constipation, Long philtrum, Failure to thrive, Redu...	OMIM:616430
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Dilatation of renal calices, Gastrointestinal dysmotility, Obesity, Fee...	ORPHA:466943
Wound Botulism	Constipation, Urinary retention, Dysphagia	ORPHA:178475
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Chronic constipation, Recurrent urinary tract infections, Feeding difficulties	OMIM:618707
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Short stature, Obesity, Constipation, Thick vermilion border	OMIM:618493
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D...	ORPHA:280365
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A...	ORPHA:2369
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Short foot, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short philtrum, High palate, Vomiting, Micropenis, Hepatic steatosis, Hyposp...	OMIM:619475
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Dee...	ORPHA:438213
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Feeding difficulties, Chronic constipation, High palate, Long philtrum,...	OMIM:616652
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microcytic anemia, Mic...	OMIM:619525
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom...	OMIM:616843
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Erythema, G...	ORPHA:53715
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Short stature, Long fingers, Long...	OMIM:309583
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Severe postnatal growth reta...	ORPHA:2399
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Conge...	ORPHA:373
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Cataract, Hypergonadotropic hypogonadism, Facial palsy, Gastroparesis, I...	OMIM:157640
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Hypospadias, Deep philtrum, Downturned corners of mouth, W...	ORPHA:163956
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcificati...	ORPHA:51608
Acute Radiation Syndrome	Diarrhea, Skin ulcer, Vomiting, Granulocytopenia, Scaling skin, Lymphopenia, Thrombocytopenia	ORPHA:454831
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353277
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Iri...	OMIM:620305
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Wide distal femoral...	OMIM:269150
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Short stature, Camptodactyly of fin...	ORPHA:2907
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Pitt-Hopkins Syndrome	Deep philtrum, Micropenis, Wide mouth, Short philtrum, Widely spaced teeth, Gastroesophageal refl...	OMIM:610954
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Myositis, Cataract, Aortic regu...	ORPHA:117
C Syndrome	Multicystic kidney dysplasia, Failure to thrive in infancy, Short stature, Accessory oral frenulu...	ORPHA:1308
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Postaxial foot polydactyl...	ORPHA:139471
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Abnormality of the kidney, Co...	ORPHA:280
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop...	ORPHA:99978
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Al-Raqad Syndrome	Thin upper lip vermilion, Chronic constipation, Narrow mouth	OMIM:616459
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Lens luxation, Ecto...	OMIM:224400
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Dilatation of renal calices, Obesity, Wide mouth, Truncal obesity, Gast...	ORPHA:466950
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Alexander Disease	Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Precocious puberty, Hyperhidrosis, Co...	ORPHA:58
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation	OMIM:614325
Mucopolysaccharidosis Type 2	Hepatomegaly, Short stature, Corneal opacity, Splenomegaly, Chronic diarrhea, Enlarged tonsils, G...	ORPHA:580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased serum lactate, Hyperalaninemia, Failure to thrive, Gastroesophageal reflux	OMIM:618249
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcor...	OMIM:615877
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacification of ...	OMIM:164900
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean co...	OMIM:127550
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Cystic angiomatosis of...	OMIM:608594
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Cataract, Intestinal pseudo-obstruction, Gastroparesis, Increased serum lactate, Ragged-red muscl...	ORPHA:70595
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Feeding difficulties, High palate, Cons...	OMIM:618162
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr...	ORPHA:48435
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Postnatal growth retardat...	OMIM:300966
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Anhidrosis, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplas...	OMIM:305100
Behr Syndrome	Chronic constipation, Dysphagia	OMIM:210000
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Severe short stature, Hypospadias, Corneal opacity, Congenital diaphra...	ORPHA:2556
Combined Oxidative Phosphorylation Defect Type 39	Increased serum lactate, Congenital foot contractures, Limb hypertonia, Vomiting, Bradycardia, Pr...	ORPHA:565624
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Cleft palate	OMIM:300946
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Hyperthyroidism, Weight loss	OMIM:188580
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Thyroid Ectopia	Short stature, Abnormality of the thyroid gland, Abdominal distention, Jaundice, Growth delay, Ma...	ORPHA:95712
Bartsocas-Papas Syndrome 1	Ectopic kidney, Flexion contracture, Hypoplastic iliac wing, Pterygium, Micropenis, Short phalanx...	OMIM:263650
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Leukodystrophy, Hypomyelinating, 20	Chronic constipation, Feeding difficulties	OMIM:619071
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
9Q33.3Q34.11 Microdeletion Syndrome	Abnormality of the kidney, Tented philtrum, Dysphagia, Thin vermilion border, Constipation, Esoph...	ORPHA:495818
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Hypospadias, Unilateral renal agenesis, Microgn...	ORPHA:96121
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxi...	OMIM:263520
Trisomy 8P	Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Micropenis, Nephrocalcinosis, Hydron...	ORPHA:264450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ...	OMIM:213980
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Weight loss, Lymph...	ORPHA:85408
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Nephroblastoma	OMIM:612918
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Flexion...	ORPHA:1865
Fuchs Endothelial Corneal Dystrophy	Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph...	ORPHA:98974
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Hypospadias, Corneal opacit...	OMIM:219000
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata...	OMIM:611717
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Sho...	ORPHA:444077
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Poor appetite, Weight loss	ORPHA:312
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Gomez-Lopez-Hernandez Syndrome	Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide ante...	OMIM:601853
Huntington Disease-Like 2	Weight loss	OMIM:606438
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss, Tongue p...	ORPHA:221098
Biotinidase Deficiency	Metabolic ketoacidosis, Hyperammonemia, Organic aciduria, Conjunctivitis, Limb muscle weakness	ORPHA:79241
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hiatus hernia, Hypoplastic philtrum, Precocious puberty, Enc...	OMIM:616682
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormal mandible morphology, Weight loss, Abnormal l...	ORPHA:93958
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased serum lactate	OMIM:618598
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Failure to thrive in infancy, Feeding difficulties in infancy, Abnormal...	ORPHA:477817
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Persistence of hemoglobin F, Astigmatism, Increased size of nasopharyngeal adenoid...	OMIM:619769
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Torticollis, Increased serum lactate, Cerebral edema	OMIM:617186
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ...	OMIM:619767
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Ja...	OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased serum lactate, Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Int...	OMIM:620275
Combined Oxidative Phosphorylation Deficiency 39	Increased serum lactate, Flexion contracture, Sinus bradycardia, Congenital contracture, Type I d...	OMIM:618397
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Short stature, Feeding difficulties in infancy, Deep philtrum, Feeding ...	OMIM:617506
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Bowing of the long bones, Generalized osteoporosis, Femoral bowing	OMIM:617952
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Sclerocornea, Cleft palate, Ectopic anus,...	ORPHA:251038
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Chronic constipation, Hydronephrosis	OMIM:618060
Liposarcoma	Nausea and vomiting, Weight loss, Abnormality of the kidney, Abdominal pain	ORPHA:69078
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Hypoplasia of the zygomatic bone...	OMIM:613603
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased serum lactate	ORPHA:438114
Fusariosis	Brain abscess, Sinusitis, Lung abscess, Abnormality of the kidney, Abnormality of the spleen, Per...	ORPHA:228119
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Constipation	OMIM:616683
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Urinary incontinence, Peri...	OMIM:176450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the kidney,...	ORPHA:2273
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Decreased HDL c...	ORPHA:77293
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly,...	OMIM:256540
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingiv...	OMIM:153670
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Developmental And Epileptic Encephalopathy 47	Chronic constipation, Feeding difficulties	OMIM:617166
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Gastro...	ORPHA:2152
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Renal cyst, Anteriorly placed anus, Buphthalmos,...	ORPHA:495875
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac...	OMIM:169550
Larsen Syndrome	Short metacarpal, Short stature, Corneal opacity, Spatulate thumbs, Accessory carpal bones, Short...	OMIM:150250
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux	OMIM:608643
Juvenile Huntington Disease	Weight loss	ORPHA:248111
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Micrognathia, Obesity, Weight loss, Growth delay, Thin vermilion bord...	ORPHA:251071
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari...	ORPHA:88
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Anterior polar cataract, Metaphyseal...	OMIM:250420
Campomelic Dysplasia	Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem...	OMIM:114290
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Postnatal growth retardation, Disproportionate short-trunk short stature,...	OMIM:313400
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Triphalangeal thumb, Normochromic anemia	OMIM:615550
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurren...	OMIM:607944
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Short stature, Urinary incontinence...	ORPHA:404448
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa...	ORPHA:139411
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Reduced bone mineral density, Intracranial hemorrhage, High palate, Raynau...	ORPHA:740
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Multiple System Atrophy, Cerebellar Type	Constipation, Neuromuscular dysphagia	ORPHA:227510
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Dilatation of the renal pelvis, Inflammation of the large intestine, Rectovaginal f...	OMIM:619708
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Yunis-Varon Syndrome	Congenital hip dislocation, Polyhydramnios, Sclerocornea, Short metatarsal, Hydrops fetalis, High...	OMIM:216340
Cataracts, Spastic Paraparesis, And Speech Delay	Chronic constipation	OMIM:619338
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Childhood Absence Epilepsy	Pallor, Urinary incontinence	ORPHA:64280
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Velopharyngeal insufficiency, Submucous cleft hard palate, Cle...	OMIM:192430
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis	OMIM:613001
Central Hypoventilation Syndrome, Congenital, 3	Chronic constipation, Episodic vomiting, Feeding difficulties	OMIM:619483
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Oligohydramnios, Cleft palate, Apl...	ORPHA:364577
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Hy...	OMIM:612301
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cleft palate,...	OMIM:601776
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Narrow greater sciatic notch, Short ...	OMIM:312870
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, High...	OMIM:271640
Toxin-Mediated Infectious Botulism	Constipation, Dysphagia	ORPHA:230800
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Microcornea, Opacification of the corneal stroma, Anterior chamber sy...	OMIM:601499
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand ...	OMIM:617088
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Abnormality of the k...	ORPHA:289390
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Abnormality of the tongue, Dysphagia	ORPHA:216866
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Sp...	ORPHA:2729
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Short ...	ORPHA:261537
Parkinson Disease, Late-Onset	Urinary urgency, Constipation, Dysphagia	OMIM:168600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Short stature, Feeding difficulties, Downturned corners of mouth, Chord...	OMIM:616728
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Protruding tongue, Micrognathia, Feeding difficulties, Constipation, Hi...	OMIM:617062
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Astigmatism, Abnormal metacarpal morphology, Coronal craniosynostosi...	ORPHA:2095
Olmsted Syndrome 1	Autoamputation of digits, Corneal opacity, Flexion contracture, Hyperhidrosis, Opacification of t...	OMIM:614594
Infantile Neuroaxonal Dystrophy	Constipation	ORPHA:35069
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Recurrent urinary tract infections, Malnutrition, Urinary urgency, Urinary retention,...	ORPHA:99027
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Long penis, Gingiva...	OMIM:135500
Mucolipidosis Type Ii	Short stature, Postnatal growth retardation, Splenomegaly, Gingival overgrowth, Hepatosplenomegal...	ORPHA:576
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Gastrostomy tube feed...	ORPHA:513456
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Maternal diabetes, Jaundice, Malnutrition, Insulin-dependent b...	ORPHA:103918
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Wide ant...	OMIM:617925
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Congenital hip dislocation, Renal agenesis, Polyhydramnios, Cardiomegaly, Asplenia,...	OMIM:306955
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h...	OMIM:175780
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Genu valgum, Postaxi...	OMIM:225500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, High, nar...	OMIM:613406
Microphthalmia, Syndromic 3	Cataract, Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Short statur...	OMIM:206900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Celiac disease, Chronic constipation, Retrognathia, Large for gestational age	ORPHA:544488
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Short stature, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjun...	ORPHA:1806
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Spastic/hyperactive bladder, Dysphagia	ORPHA:411602
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Corneal opacity	ORPHA:578
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Deep philtrum, Submucous cleft ...	OMIM:619194
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Multiple System Atrophy	Constipation	ORPHA:102
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short stature, Chronic constipation, High palate, Retrognathia, Bifid uvula	OMIM:300472
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss, Abnormal ora...	ORPHA:704
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Pineal cyst, Growth delay, Microcornea, Astigmatism, Opaci...	OMIM:600268
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:613454
Multiple System Atrophy, Parkinsonian Type	Constipation	ORPHA:98933
Developmental And Epileptic Encephalopathy 2	Constipation, Thick lower lip vermilion, Gastroesophageal reflux	OMIM:300672
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity, Hypohidrosis	OMIM:602400
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Broad ischia, Diaphyseal dysplasia, Scler...	OMIM:619727
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:97685
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Short ...	ORPHA:261552
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu...	ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad...	OMIM:619472
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Adrenal hypoplasia, Sc...	OMIM:607932
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Short stature, Telangiectasia o...	ORPHA:910
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Bullous Pemphigoid	Erythema, Diabetes mellitus, Weight loss	ORPHA:703
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corneal erosion, G...	ORPHA:920
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland,...	ORPHA:79078
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Short stature, Sclerocornea, High palate, Polydactyly, Vesicoureteral reflux	OMIM:619869
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con...	ORPHA:95455
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Neonatal death, Multicystic kidney dysplasia, Hypospadias, Short stature, Hydromyelia, Oligohydra...	OMIM:308205
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Tay-Sachs Disease	Pallor	OMIM:272800
Pyomyositis	Renal insufficiency, Leukocytosis, Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Long fingers, Cutaneous syndactyly, Bifid uvula, High palate, Hypocalcemia, Constipat...	OMIM:620330
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Abnormal cartilage morphology, Bone cyst, Osteolysis,...	ORPHA:2396
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi...	ORPHA:1359
Eales Disease	Constipation	ORPHA:40923
African Trypanosomiasis	Urinary incontinence, Vomiting, Conjunctivitis, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Abnor...	ORPHA:3385
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Plague	Chapped lip, Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Di...	ORPHA:707
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Osteopenia, Short stature, Camptodactyly of finger, Mitral stenosis, Co...	OMIM:231050
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Corneal opacity, Submucous cleft soft palate, Aplasia of the di...	OMIM:608670
Ichthyosis, X-Linked	Opacification of the corneal stroma, Hypohidrosis	OMIM:308100
Menke-Hennekam Syndrome 2	Thin upper lip vermilion, Duodenal ulcer, Micrognathia, Deep philtrum, Agenesis of permanent teet...	OMIM:618333
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival overgrowth, Chronic constip...	OMIM:619777
Faundes-Banka Syndrome	Thin upper lip vermilion, Premature thelarche, Micrognathia, Feeding difficulties in infancy, Fet...	OMIM:619376
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat...	ORPHA:424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Hypohidrosis	ORPHA:461
Granulomatosis With Polyangiitis	Sinusitis, Oral ulcer, Skin ulcer, Weight loss, Granulomatosis	OMIM:608710
Mosaic Trisomy 20	Abnormality of the kidney, Micrognathia, Cleft lip, Cleft palate, Horseshoe kidney, Chronic const...	ORPHA:1724
Cerebrotendinous Xanthomatosis	Osteopenia, Increased serum lactate, Abnormal tibia morphology, Tendon xanthomatosis, Abnormal fi...	ORPHA:909
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Combined Oxidative Phosphorylation Deficiency 29	Increased serum lactate	OMIM:616811
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Cleft upper lip, Ectopic kidney, Feeding difficulties in infancy, Submucous cleft ha...	OMIM:607872
Robinow Syndrome, Autosomal Dominant 1	High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Renal duplication...	OMIM:180700
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Symblepharon, Sternocleidomastoid amyotrophy, Small hand, Short foot, Micropenis, Spi...	ORPHA:488434
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Chronic constipation	OMIM:601707
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Abnormality of the dentition, Malabsorption, Abnormality of the gingiva, Cys...	ORPHA:285
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, G...	OMIM:619482
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, H...	ORPHA:60025
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Proboscis Lateralis	Cataract, Corneal opacity, Unilateral renal agenesis, Ureteral agenesis, Duplication of renal pel...	ORPHA:141099
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Short stature, Glomerulonephritis, He...	ORPHA:2968
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia	OMIM:619352
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ...	OMIM:619479
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Perry Syndrome	Weight loss	ORPHA:178509
Coffin-Siris Syndrome 12	Hypospadias, Short stature, Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous...	OMIM:619325
Rodrigues Blindness	Microcornea, Short stature, Sclerocornea	OMIM:268320
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Short stature, Increased serum lactate, Shortened PR interval, Sm...	OMIM:614947
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Autoamputation of digits, Postural hypotension with compensatory tachycardia, Keratit...	OMIM:256800
Pudendal Neuralgia	Abdominal colic, Anal canal adenocarcinoma, Dysuria, Episodic abdominal pain, Pollakisuria, Const...	ORPHA:60039
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne...	ORPHA:425
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Familial Gestational Hyperthyroidism	Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor...	ORPHA:99819
Reactive Arthritis	Recurrent urinary tract infections, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la...	ORPHA:29207
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Aganglionic megacolon, Short s...	OMIM:235730
Combined Oxidative Phosphorylation Defect Type 29	Increased serum lactate	ORPHA:478029
Acromesomelic Dysplasia 4	Mandibular prognathia, Rhizomelia, Short stature, Disproportionate short stature, Chronic constip...	OMIM:619636
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Polyhydramnios, Preaxial p...	OMIM:615503
Sacral Defect With Anterior Meningocele	Rectal abscess, Neurogenic bladder, Urinary retention, Constipation	OMIM:600145
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum lactate, Poor suck, Increased serum pyruvate, Feeding difficulties	OMIM:618222
Choreoacanthocytosis	Hepatomegaly, Temporomandibular joint crepitus, Elevated circulating creatine kinase concentratio...	ORPHA:2388
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Hiatus hernia, Rectal prolapse, Bladder diverticulum,...	ORPHA:287
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma, Mitr...	OMIM:231005
Acquired Central Diabetes Insipidus	Pollakisuria, Diabetes insipidus, Weight loss	ORPHA:95626
Norrie Disease	Diabetes mellitus, Cachexia, Thin vermilion border, Delayed puberty, Malar flattening, Failure to...	ORPHA:649
Dermatomyositis	Abnormal eosinophil morphology, Feeding difficulties in infancy, Gastrointestinal stroma tumor, E...	ORPHA:221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydromyelia, Mu...	OMIM:615287
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tac...	OMIM:300952
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal...	OMIM:300106
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Micrognathia, Everted lower lip vermilion, Pa...	OMIM:253280
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Hyperhidrosis, Feeding difficulties, Chronic constipation, Ineffective eso...	OMIM:209880
Osteosarcoma	Weight loss	ORPHA:668
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Tyrosinemia Type 2	Corneal opacity, Hyperhidrosis	ORPHA:28378
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, Poor appetite, Micrognathia, Nasogastric tube feeding in infancy, Feeding diffic...	ORPHA:2020
Nocardiosis	Brain abscess, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abn...	ORPHA:31204
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Postnatal growth retardation, Flat acetabular roof, Hepatospl...	ORPHA:263508
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Cyst of the ductus choledochus, Feeding difficulties, Chronic constipati...	OMIM:619480
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:164310
Perry Syndrome	Weight loss	OMIM:168605
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Narrow mouth, Thick lower lip vermilion, Mesiodens, Constipation, Long philtrum	ORPHA:314647
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short stature, Micrognathia, Hiatus hernia, Thick lower lip vermilion, Downturned corners of mout...	OMIM:614756
Knobloch Syndrome 2	Pyloric stenosis, Enamel hypoplasia, Chronic constipation, Micrognathia	OMIM:618458
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Holoprosencephaly 2	Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Bilateral cleft lip a...	OMIM:157170
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Cleft palate,...	OMIM:618332
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Lambert-Eaton Myasthenic Syndrome	Constipation, Xerostomia, Hypohidrosis	ORPHA:43393
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Ectopic thyroid, Iris coloboma, Hypothyroidism, Heterochro...	ORPHA:42775
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela...	ORPHA:79280
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Poor suck, Pallor, Cardiomegaly	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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