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Gene: Slc9a3 MGI:105064

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Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms:
NHE3,  9030624O13Rik,  NHE-3

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Slc9a3tm1b(NCOM)Mfgc HET   Early adult 1.50×10-05
increased circulating calcium level Slc9a3tm1b(NCOM)Mfgc HET Early adult 3.25×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Slc9a3 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.

The table below shows human diseases associated to Slc9a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Polyhydramnios, Inflammation of the large intestine, Elevated fecal sodium,... OMIM:616868
Cystic Fibrosis
Absent vas deferens, Steatorrhea, Rectal prolapse, Male infertility, Gastroesophageal reflux, Mec... ORPHA:586

The table below shows human diseases predicted to be associated to Slc9a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Metabolic acidosis, Diarrhea, Hyperactive renin-angiotensin system, Dehydrati... OMIM:264350
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Diarrhea, Abnormal intestine morphology, Vomiting, F... OMIM:606528
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Metabolic acidosis, Diarrhea, Hyperactive renin-angiotensin system, Dehydration, Hypotension, Pse... OMIM:177735
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Chronic diarrhea, Abdominal pain... ORPHA:85445
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Familial Hypoaldosteronism
Renal salt wasting, Metabolic acidosis, Orthostatic hypotension, Diarrhea, Hypotension, Hypovolem... ORPHA:427
Lactase Deficiency, Congenital
Metabolic acidosis, Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intoleranc... OMIM:223000
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Diarrhea, Abdominal pain, Increased level of L-pyrog... OMIM:260005
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Polyhydramnios, Hyperactive renin-angiotensin system, Elevated stool chlori... OMIM:214700
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti... ORPHA:1501
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Vomiting, Nephrocalcinosis, Hyperparathyroidism OMIM:239199
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Lactic acidosis, Renal tubular aci... ORPHA:264580
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Diarrhea, Abdomina... OMIM:121300
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hyperchloremic acidosis, Bicarbona... OMIM:604278
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Vomiting, Proxi... OMIM:615824
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic aciduria, Renal tubular acidosis, Cardiomyopathy, Increased circulating lactat... ORPHA:324525
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hypernatriuria, Decreased circulating... ORPHA:361
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Metabolic acidosis, Hypercalciuria, Dehydration, Vomiting, Nephrocalcinosis, Distal renal tubular... OMIM:602722
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis, Dehydration, Hypotension, Increased circulating renin level, Hyperaldosteronism OMIM:620125
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary arterial hypertension, Adren... ORPHA:369929
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Glucocortocoid-in... ORPHA:231625
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Stomatitis, Hypotension, Tachycardia ORPHA:79155
Neuroendocrine Neoplasm Of Appendix
Functional intestinal obstruction, Ileal adenocarcinoma, Heart murmur, Nausea and vomiting, Abdom... ORPHA:100079
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypercalciuria, Hypertension, Abnormal circulating renin, Glucocortocoid-i... ORPHA:251274
Snakebite Envenomation
Acute kidney injury, Tachycardia, Diarrhea, Neuromuscular dysphagia, Cerebral ischemia, Hypotensi... ORPHA:449285
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Hyperacti... OMIM:607364
Hyperaldosteronism, Familial, Type Iii
Polyuria, Metabolic acidosis, Hypercalciuria, Decreased circulating renin level, Hypertension, Ad... OMIM:613677
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Acidosis, Increased circulating renin level OMIM:619406
Familial Hyperaldosteronism Type Ii
Hypertension, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Lactic acidosis, Renal tubular acidosis, Diarrhea, ... ORPHA:79240
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Hematuria, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Episodic vomiting, Diarrhea, Abdominal pain, Angioedema, Facial ede... OMIM:619367
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal... OMIM:613743
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm, Decreased circulating renin level, Hypertension, Glucoc... ORPHA:231632
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Metabolic acidosis, Dehydration, Vomiting, Increased circulating renin level, Hyperaldosteronism OMIM:620126
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerul... ORPHA:85450
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Metabolic acidosis, Projectile vomiting, Chronic diarrhea, Abn... OMIM:615237
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Dehydration, Malnutrition, Protracted diarrhea, Villous atrophy OMIM:251850
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Abdominal distention, Metabolic acidosis, Generalized aminoaciduria, Renal ... ORPHA:2088
Say Syndrome
Cystic renal dysplasia, Cleft palate, Proximal renal tubular acidosis OMIM:181180
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Acute kidney injury, Glomerulopathy, Aplasia/Hypoplasia of the pancreas, Hyp... ORPHA:93111
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Arrhythmia, Sudden... ORPHA:156
Kearns-Sayre Syndrome
Lactic acidosis, Hypoparathyroidism, Renal tubular acidosis, Cardiomyopathy, Primary adrenal insu... OMIM:530000
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Intestinal bleeding, Edema, Anasarca, Hypocholesterolem... ORPHA:90363
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Lactic acidosis, Polyhydramnios, Renal tubular acidosis, Cardiomyopathy... OMIM:614922
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:231580
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone lev... ORPHA:556030
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Renal tubular acidosis, Diarrhea, Transient hyperlipidemia, Feeding diffic... OMIM:255120
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Polyhydramnios, Inflammation of the large intestine, Elevated fecal sodium,... OMIM:616868
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Urinary incontinence, Prolonged QT interval, Renal pot... ORPHA:358
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Hyperlipidemia, Vomiting, Abdominal colic, Hypercholesterol... OMIM:615863
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Pulmonic stenosis, Functional intestinal obstruction, Edema, Arterial occl... ORPHA:100078
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Nausea and vomiting, Anorexia, Episodic abdominal pain, Poor ... ORPHA:100075
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Metabolic acidosis, Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Hyper... OMIM:611590
Hyperaldosteronism, Familial, Type Iv
Hypertension, Elevated aldosterone:renin ratio, Hyperaldosteronism OMIM:617027
Generalized Pseudohypoaldosteronism Type 1
Metabolic acidosis, Cholelithiasis, Dehydration, Hypovolemic shock, Glucocortocoid-insensitive pr... ORPHA:171876
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Nausea and vomiting, Type I diabetes melli... ORPHA:85138
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Myocarditis, Pulmonary edema, Pancreatitis, Diarrhea, Abdominal... ORPHA:188
Microvillus Inclusion Disease
Abdominal distention, Metabolic acidosis, Diarrhea, Dehydration, Hypovolemia, Abnormal small inte... ORPHA:2290
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone lev... ORPHA:556037
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Metabolic acidosis, Microvillar PAS-positive secretory granules, Vomiting, ... OMIM:619445
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Nephrocalcinosis, Hyperaldosteronism, Hyperparathyroidism, Hyposthenuria... OMIM:601678
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Diarrhea, Metabolic ketoacidosis, Vomiting, Glycosuria, Hyperhidrosis, Proteinu... ORPHA:263455
Pyruvate Carboxylase Deficiency
Lactic acidosis, Proximal renal tubular acidosis, Increased circulating lactate concentration OMIM:266150
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Polymorphic ventricular tachycardia, Prolonged QT interval, ... ORPHA:37553
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Metabolic acidosis, Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephrocal... OMIM:613404
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Nausea and vomiting, Central ... ORPHA:91349
Vici Syndrome
Renal tubular acidosis, High palate, Cardiomyopathy, Ureteral atresia, Feeding difficulties, Feed... ORPHA:1493
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A... ORPHA:103907
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Dehydration, Vomiting, Methylmalonic aciduria, Ketoacidosis OMIM:614265
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Dehydration, Hypotension, Vomiting, Increased circulating renin level, Decrea... OMIM:203400
Attrv30M Amyloidosis
Diarrhea, Cardiomyopathy, Impotence, Constipation, Abnormal renal physiology, Arrhythmia, Atriove... ORPHA:85447
Cholera
Acute kidney injury, Lactic acidosis, Tachycardia, Diarrhea, Abdominal pain, Dehydration, Hypoten... ORPHA:173
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ... ORPHA:403
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Lactic acidosis, Hypospadias, Gastroesophageal reflux, Renal tubular acidosis, Hypertrophic cardi... OMIM:615471
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polyhydramnios, Decreased glomerular filtration rate, Hyperchloridu... OMIM:613090
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarr... OMIM:619079
Proprotein Convertase 1/3 Deficiency
Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating c... OMIM:600955
East Syndrome
Renal salt wasting, Enuresis, Increased circulating renin level, Metabolic alkalosis, Hyperaldost... ORPHA:199343
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain, Malabsorption, Nephrolithiasis OMIM:222900
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Hypotension, Constipation, Hyperhidrosis, Dysphagia, Feeding d... ORPHA:35708
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Villous atrophy, Metabolic acidosis, Lactic acidosis, Hydrops fetalis, Hyp... OMIM:557000
Necrotizing Enterocolitis
Abdominal distention, Metabolic acidosis, Bradycardia, Abdominal rigidity, Diarrhea, Hypoactive b... ORPHA:391673
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Hypertension, Enuresis, Inc... OMIM:612780
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Abdominal pain, Bloody diarrhea, Episodic a... ORPHA:209964
Acute Adrenal Insufficiency
Delayed puberty, Decreased circulating cortisol level, Nausea and vomiting, Decreased female libi... ORPHA:95409
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Metabolic acidosis, Renal tubular acidosis, Dehydration, Nephrogenic diabetes insipidus, Oligohyd... OMIM:208085
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... OMIM:155310
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Steatorrhea, Hypertriglyceridemia, Ascites, Hypernatriuria... ORPHA:275761
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Intestinal Dysmotility Syndrome
Abdominal distention, Polyhydramnios, Diarrhea, Projectile vomiting, High palate, Decreased intes... OMIM:620045
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Metabol... OMIM:276700
Ethylene Glycol Poisoning
Congestive heart failure, Renal tubular epithelial necrosis, Lactic acidosis, Metabolic acidosis,... ORPHA:31826
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Lactic acidosis, High palate, Hypertrophic cardiomyopathy, Increased ci... OMIM:220110
Hirschsprung Disease
Intestinal obstruction, Neoplasm of the thyroid gland, Aganglionic megacolon, Intestinal polyposi... ORPHA:388
Late-Onset Isolated Acth Deficiency
Anorexia, Premature ovarian insufficiency, Hypoparathyroidism, Orthostatic hypotension, Decreased... ORPHA:199299
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polyhydramnios, Hyperchloriduria, Hyperprostaglandinuria, Diarrhea,... OMIM:241200
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Hyperchloremic metabolic acidosis, Dehydration, Vomiting OMIM:610370
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Di... ORPHA:542323
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra... OMIM:602522
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Polyhydramnios, Hyperprostaglandinuria, Hypercalciuria, ... ORPHA:89938
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Hypotension, Tricuspid regurgitation, Pulmonary carcinoid tumor, Poor ap... ORPHA:97287
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Leigh Syndrome
3-Methylglutaconic aciduria, Congestive heart failure, Lactic acidosis, Generalized aminoaciduria... ORPHA:506
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Metabolic acidosis, Diarrhea, Abdominal pain, Elevated urine suberic acid level,... OMIM:248360
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Lactic acidosis, Hypertrophic cardiomyopathy, Vomiting, Hyperphosphatur... ORPHA:436271
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial hypertension... OMIM:615474
Hereditary Angioedema Type 1
Edema of the dorsum of hands, Abnormal soft palate morphology, Diarrhea, Abdominal pain, Hypotens... ORPHA:100050
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Gastroesophageal reflux, Renal tu... OMIM:613457
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Sudden cardiac death ORPHA:770
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Metabolic acidosis, Renal phosphate wasting, Proximal tubulopat... ORPHA:411634
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Peau d'orange, Hypotension, Vomiting, Nausea, Angioedema, Telangiectasi... ORPHA:79455
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell h... OMIM:171400
Cocaine Intoxication
Prolonged QT interval, Hypertension, Hyperhidrosis, Prolonged QRS complex, Diffuse alveolar hemor... ORPHA:90068
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Hematuria, Melena, Aortic regurgitation, Hypotension, Pulmonic steno... ORPHA:99147
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis, Distal renal tubular acidosis OMIM:179800
Renal Tubular Acidosis, Proximal
Hypercalciuria, Hyperchloremic acidosis, Proximal renal tubular acidosis OMIM:179830
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Colchicine Poisoning
Myocarditis, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Abnormality of acid-b... ORPHA:31824
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Hypomagnesemia 3, Renal
Hypertension, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenu... OMIM:248250
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Primary hypothyroidism, Small... ORPHA:95427
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal... ORPHA:73224
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Stress/infection-induced lactic acidosis, Organic aciduria, Renal tubular acidosis ORPHA:431361
Enteric Anendocrinosis
Diarrhea, Dehydration, Portal hypertension, Vomiting, Malabsorption, Type I diabetes mellitus, Hy... ORPHA:83620
Developmental And Epileptic Encephalopathy 50
Diarrhea, Oroticaciduria, Dysphagia, Renal tubular acidosis OMIM:616457
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Diarrhea, Hypercal... ORPHA:47159
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Diarrhea, Proximal tubulopathy, Vomiting, Feeding difficulties, Severe lactic ac... OMIM:612075
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Lujo Hemorrhagic Fever
Bradycardia, Hyperhidrosis, Cerebral edema, Dysphagia, Oliguria, Myocarditis, Metabolic acidosis,... ORPHA:319213
Ménétrier Disease
Anorexia, Peripheral edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer,... ORPHA:2494
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Diarrhea, Esophageal varix, Nausea and vomiting, Adrenal calcification, Hyp... ORPHA:75234
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Dehydration, Vomiting, Const... ORPHA:411629
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Leprechaunism
Abdominal distention, Clitoral hypertrophy, Rectal prolapse, Enlarged kidney, Hyperinsulinemia, L... ORPHA:508
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Lactic acidosis, Metabolic acidosis, Transient amino... OMIM:229600
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Metabolic acidosis, Bradycardia, Diarrhea, Functi... ORPHA:90051
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Relapsing Fever
Acute kidney injury, Hematuria, Diarrhea, Abdominal pain, Hypotension, Vomiting, Epistaxis, Tachy... ORPHA:91547
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Colorectal polyposis, Multiple in... ORPHA:251992
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Diarrhea, Proximal tubulopathy, Renal c... OMIM:602579
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Proximal tubulopathy, High palate, Organic aciduria, Enuresis, In... OMIM:619743
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Beta-Ketothiolase Deficiency
Anorexia, Metabolic acidosis, Diarrhea, Hypertension, Dehydration, Hypotension, Increased circula... ORPHA:134
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Wild Type Attr Amyloidosis
Intermittent diarrhea, Congestive heart failure, Pulmonary edema, Pedal edema, Renal insufficienc... ORPHA:330001
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Fat malabsorption, Increased fecal bile acid OMIM:613291
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Abnormal gastric... ORPHA:263665
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Hypotension, Ascites, Epistaxis, Cerebral ... ORPHA:99828
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Gastroesophageal reflux, Orthostatic hypotension, Recurrent urinary tract infections... OMIM:191800
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis OMIM:267200
Galactosemia I
Decreased liver function, Premature ovarian insufficiency, Metabolic acidosis, Galactosuria, Diar... OMIM:230400
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Diarrhea, Abdominal pain, Hepat... OMIM:176000
Alg1-Cdg
Decreased liver function, Abnormality of the kidney, Protein-losing enteropathy, Abnormality of t... ORPHA:79327
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Hyperhid... ORPHA:340
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syndrome, Dysph... OMIM:219800
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Serotonin Syndrome
Acute kidney injury, Lactic acidosis, Diarrhea, Hypertension, Hypotension, Nausea, Hyperhidrosis,... ORPHA:43116
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Abnormality of the gastrointestinal tract, Lactic acidosis, Gastroesophagea... ORPHA:298
Infant Botulism
Anorexia, Abdominal pain, Hypertension, Cardiac arrest, Hypotension, Bowel incontinence, Constipa... ORPHA:178478
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nephrolithiasis, Hypergonadotropic hypogonadism, Nausea, Poor appetite, Dysphagia, Arrh... ORPHA:352447
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Legionnaires Disease
Anorexia, Myocarditis, Hematuria, Pancreatitis, Diarrhea, Abdominal pain, Hypotension, Pericardit... ORPHA:549
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Abnormality of the female genitalia, Dyspepsia, Hematuria, Gastroesophageal ... ORPHA:1018
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Metabolic acidosis, Low-output cong... ORPHA:97292
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Mercury Poisoning
Anorexia, Acute kidney injury, Episodic vomiting, Hypertension, Episodic abdominal pain, Hypotens... ORPHA:330021
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemic alkalosis, Prolonged QT interval, Hypocalciuria, Renal pot... OMIM:263800
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Diarrhea, Abdominal pain, Proteinuria, Arrhythmia, Renal insuffic... ORPHA:54057
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Port... ORPHA:79319
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, P... OMIM:618183
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Prune Belly Syndrome
Hydroureter, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of the bladder, Recur... ORPHA:2970
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Malnu... OMIM:246700
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Dicarboxylic aciduria, Methylmalonic acidemia, Dehydration, Vomiting, Acid... ORPHA:289504
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... ORPHA:2070
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hyperhidrosi... ORPHA:91347
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Diarrhea, Dehydration, Hematochezia, Edema ORPHA:103910
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Crypt hyperplasia, Villous atrophy OMIM:613217
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Nephrotic syndrome, Shawl scrotum ORPHA:2575
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Peau d'orange, Hypotension, Vomiting, Maln... ORPHA:79456
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Metabolic acidosis, Renal tubular acidosis, Hematochezia, Feeding difficulti... OMIM:619575
Malakoplakia
Prostate neoplasm, Hematuria, Neoplasm of the rectum, Diarrhea, Abdominal pain, Dysuria, Urinary ... ORPHA:556
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten... OMIM:615962
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Hypote... ORPHA:98850
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Methanol Poisoning
Metabolic acidosis, Diarrhea, Abdominal pain, Hypertension, Hyperlipidemia, Permanent atrial fibr... ORPHA:31825
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Hypertension, Hypotension, Decreased circulating cortisol level OMIM:611489
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Mitochondrial Trifunctional Protein Deficiency 2
Metabolic acidosis, Recurrent myoglobinuria, Myoglobinuria, Hypotension, Tricuspid regurgitation,... OMIM:620300
Whipple Disease
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Erectile dysfunction, Pedal edema, Diarrhea, ... ORPHA:3452
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Glucose/Galactose Malabsorption
Abdominal distention, Metabolic acidosis, Chronic diarrhea, Hypertonic dehydration, Glycosuria, M... OMIM:606824
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Chronic kidney disease, Hemosiderinuria, Hypertension, Episodic abdominal pa... ORPHA:447
Analbuminemia
Edema, Oligohydramnios, Hypercholesterolemia, Hypotension OMIM:616000
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Meningococcal Meningitis
Anorexia, Projectile vomiting, Hypotension, Increased circulating procalcitonin concentration, Re... ORPHA:33475
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Mixed respiratory and metabolic acidosis, Hypotension, Myoglobinuria OMIM:145600
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Metabolic acidosis, Pancreatitis, Vasculitis, Hypotension, Diabetic ketoacidosis... ORPHA:70578
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Intestinal lymphangiectasia, Diarrhea, Abdominal pain, Abnormal intestine... OMIM:226300
Glutaric Aciduria Iii
Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Hyperthyroidism, Goiter OMIM:231690
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux OMIM:608971
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Scrub Typhus
Myocarditis, Abdominal pain, Hypotension, Hyperhidrosis, Nausea and vomiting, Renal insufficiency ORPHA:83317
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Abnormality of the endocrine system, Bifid scrotum, Androgen insufficiency, A... ORPHA:95706
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Bloo... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Ascites, Vo... OMIM:608104
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Zollinger-Ellison Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Duodenal ulcer, Pituitary growth hormone cel... ORPHA:913
Gracile Syndrome
Lactic acidosis, Renal Fanconi syndrome ORPHA:53693
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Metabolic acidosis, Pancreatitis, Diarrhea, Abdominal pain, Increased circulating lactate concent... OMIM:620137
Wolman Disease
Abdominal distention, Steatorrhea, Nausea and vomiting, Esophageal varix, Ascites, Adrenal insuff... ORPHA:75233
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Metabolic acidosis, Hemolytic-uremic syndrome, Hemat... OMIM:277400
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Mccune-Albright Syndrome
Hepatocellular adenoma, Ovarian cyst, Abnormal endocrine physiology, Increased circulating cortis... ORPHA:562
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Metabolic acidosis, Diarrhea, Abdominal pain, Recurrent urinary tract infecti... ORPHA:36234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Eleva... OMIM:201910
Neuroleptic Malignant Syndrome
Acute kidney injury, Urinary incontinence, Metabolic acidosis, Bradycardia, Myoglobinuria, Hypert... ORPHA:94093
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Fabry Disease
Delayed puberty, Congestive heart failure, Urinary mulberry cells, Diarrhea, Abdominal pain, Angi... OMIM:301500
Hypophosphatasia
Hypercalcemia ORPHA:436
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Dicarboxylic aciduria, Metabolic acidosis, Diarrhea, Increased circulating free fatt... OMIM:605911
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Abnormality of the gastrointestinal tract, Hydroureter, Polyhydramnios, Mic... ORPHA:2241
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Anasarca, T-wave in... OMIM:261740
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Impotence, Bowel incontinence, Urinary bladder sphincter dysfunction,... ORPHA:93256
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Alagille Syndrome 1
Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Hepatocellular carcin... OMIM:118450
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Metabolic acidosis, Episodic vomiting, Diarrhea, Reye syndrome-like episodes, Cardiac a... ORPHA:20
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Polyhydramnios, Gastroesophageal reflux, Feeding difficulties, Malnutrition OMIM:619971
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Systemic Sclerosis
Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal b... ORPHA:90291
Mitchell-Riley Syndrome
Annular pancreas, Diarrhea, Meckel diverticulum, Pancreatic hypoplasia, Ascites, Intestinal malro... OMIM:615710
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Ascites, Hy... ORPHA:99827
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Lactic acidosis, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, A... OMIM:603041
American Trypanosomiasis
Myocarditis, Congestive heart failure, Aganglionic megacolon, Diarrhea, Abdominal pain, Abnormal ... ORPHA:3386
Osteopetrosis With Renal Tubular Acidosis
Metabolic acidosis, Renal tubular acidosis, High palate, Nephrolithiasis, Pulmonary arterial hype... ORPHA:2785
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lactic acidosis, Bloody diarrhea, Cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties OMIM:615119
Myopathy, Myofibrillar, 1
Bradycardia, Diarrhea, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Constipation, Dil... OMIM:601419
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Renal Tubular Dysgenesis
Abnormality of the urinary system, Anuria, Hypotension, Oligohydramnios, Renotubular dysgenesis OMIM:267430
Familial Mediterranean Fever
Intestinal obstruction, Ascites, Pericarditis, Nephrocalcinosis, Acute hepatic failure, Arrhythmi... ORPHA:342
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Precocious puberty with Se... OMIM:175200
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocyto... ORPHA:652
Cronkhite-Canada Syndrome
Anorexia, Intestinal polyposis, Stomach cancer, Diarrhea, Abdominal pain, Lymphedema, Furrowed to... ORPHA:2930
Marburg Hemorrhagic Fever
Bradycardia, Pericarditis, Anorexia, Abdominal pain, Nausea, Pancreatitis, Capillary leak, Odynop... ORPHA:99826
Sandhoff Disease, Juvenile Form
Diarrhea, Urinary incontinence, Dysphagia, Constipation ORPHA:309162
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Diarrhea, Female hypogonadis... OMIM:240300
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Brunner Syndrome
Diarrhea OMIM:300615
Hellp Syndrome
Acute kidney injury, Pulmonary edema, Abdominal pain, Pleural effusion, Hypotension, Internal hem... ORPHA:244242
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Glucose-Galactose Malabsorption
Abdominal distention, Hematuria, Diarrhea, Dehydration, Nephrolithiasis, Vomiting, Osmotic diarrh... ORPHA:35710
Lissencephaly, X-Linked, 2
Diarrhea, High palate, Decreased testicular size, Ambiguous genitalia, Micropenis, Feeding diffic... OMIM:300215
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Methylmalonic acidemia, Pancreatitis, Diarrhea, Cardiomyopathy, Dehydratio... OMIM:251000
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Abdominal distention, Urinary incontinence, Increased... ORPHA:79276
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidney... OMIM:263200
Nipah Virus Disease
Anorexia, Nausea and vomiting, Hypotension ORPHA:99825
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Orthostatic hypotension, Gastroesophageal reflux, Glomerular sclerosis, D... OMIM:223900
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Elevated fecal osmolality, Abnormal small intestinal mucosa mo... ORPHA:92050
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Ascit... ORPHA:97283
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Ureteral duplication, Polyhydramnios, Rectovaginal fistula, Anal atresia, I... OMIM:270420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Diarrhea, Abdominal pain, Glossitis, Hamartomatous polyposi... OMIM:175500
Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Arrhythmia, Nausea and vomiting, Urinary reten... ORPHA:1267
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Congestive ... ORPHA:727
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Multiple Endocrine Neoplasia Type 2
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinephrine level, Hyp... ORPHA:653
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Adenoma sebaceum, Glucagonoma, Diarrhea, Adrenocortical adenoma, Pancreatic islet c... OMIM:131100
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Hyperprolinemia Type 2
Prolinuria, Diarrhea, Abdominal pain, Increased urine alpha-ketoglutarate concentration, Hydroxyp... ORPHA:79101
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Episodic abdominal pain, Vomiting, Intestin... OMIM:243180
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abnormality of the gastrointestinal tract, Hematuria, Diarrhea, Abdominal p... ORPHA:93552
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Esophageal varix, Card... OMIM:232500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Lassa Fever
Facial edema, Diarrhea, Abdominal pain, Oliguria, Dysphagia, Nausea and vomiting, Menometrorrhagi... ORPHA:99824
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Constipation, Hyperphosph... OMIM:309000
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties, Hypertrophic cardiomyopathy OMIM:620270
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Foodborne Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Arrhythmia, Nausea and vomiting, Urinary reten... ORPHA:228371
Carcinoid Syndrome
Lack of bowel sounds, Episodic abdominal pain, Small intestine carcinoid, Tricuspid regurgitation... ORPHA:100093
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Infection-Related Hemolytic Uremic Syndrome
Hypertension, Hypertensive crisis, Oliguria, Intussusception, Edema, Myocarditis, Acute kidney in... ORPHA:544482
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Pancreatitis, Renal insufficiency, Diarrhea, Abdominal pain, Dysuria... ORPHA:36426
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Increased urinary porphobilinogen, Episodic vomiting, Diarrhea, Abdominal p... ORPHA:100924
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Aganglionic megacolon, Vesicoureteral reflux, Renal agenesis, Proteinu... ORPHA:261222
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Hypertriglyceridemia, Tubu... ORPHA:79259
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Hypotension, Constipation, Hyperhidrosis, Feeding difficulties... OMIM:608643
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Hypotension, Increased nuchal translucency OMIM:615668
Melas
Intestinal pseudo-obstruction, Proximal tubulopathy, Cardiomyopathy, Recurrent pancreatitis, Type... ORPHA:550
Familial Mediterranean Fever
Diarrhea, Crohn's disease, Abdominal pain, Pleural effusion, Episodic abdominal pain, Vomiting, N... OMIM:249100
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Bradycardia, Cardiac arrest, Cardiomyopathy, Premature ventricular contrac... OMIM:212138
Central Diabetes Insipidus
Anorexia, Diabetes insipidus, Diarrhea, Dehydration, Nocturia, Nausea and vomiting ORPHA:178029
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Chronic diarrhea, Recurrent urinary tract infections, Achal... OMIM:617053
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Abnormal intestine morphology, Bifid scrotum, Vesicoureteral re... ORPHA:1552
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Polyhydramnios, Gastroesophageal reflux, Diarrhea, Abdominal pain, Enuresis, Constipa... ORPHA:589821
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Tachycardia, Diarrhea, Abdominal pain, Pheochromocytoma, H... ORPHA:139411
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Glycogen Storage Disease Ia
Delayed puberty, Intermittent diarrhea, Enlarged kidney, Lactic acidosis, Xanthelasma, Decreased ... OMIM:232200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,... OMIM:619431
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Ascit... ORPHA:97280
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Lead Poisoning
Anorexia, Abdominal distention, Delayed puberty, Decreased male libido, Abdominal pain, Decreased... ORPHA:330015
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Decreased circulating cortisol level, Hypotension, Adrenocorticotropin defici... ORPHA:199296
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Alexander Disease
Hypertension, High palate, Hypotension, Bowel incontinence, Precocious puberty, Constipation, Hyp... ORPHA:58
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Congestive heart failure, Acute colitis, Abdominal pain, Diarrhea, Bloody... ORPHA:67
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Abdominal pain, Colon cancer, Hematochezia, I... OMIM:174900
Poliomyelitis
Anorexia, Hypertension, Hypotension, Hypovolemic shock, Vomiting, Nausea, Dysphagia, Paralytic ileus ORPHA:2912
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Hyperhidrosis, Constipation OMIM:615548
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Pde4D Haploinsufficiency Syndrome
Hypotension, Elevated circulating parathyroid hormone level, Cryptorchidism, Hypospadias ORPHA:439822
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Premature ovarian insufficiency, Diarrhea, Proximal tubulopathy, Cardiomyopathy, Ren... OMIM:212065
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Cardiomyopathy, Hypotension, Arrhythmia, Oliguria, Ventricular tachycardia... ORPHA:159
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Polyhydramnios, Bloody diarrhea, Hypoplasia of the thymus,... OMIM:243150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Chronic diarrhea, Proteinuria, Membranoproliferative glomerulonephritis,... OMIM:619858
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Hypertension, Ascites, Pulmonary art... OMIM:215600
Mccune-Albright Syndrome
Intestinal polyposis, Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulatin... OMIM:174800
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Diarrhea, Pheochromocytoma, Elevated urinary epinephr... OMIM:162300
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Villous atrophy OMIM:614602
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo... ORPHA:1876
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Distal Renal Tubular Acidosis
Decreased glomerular filtration rate, Renal potassium wasting, Proximal tubulopathy, Nephrocalcin... ORPHA:18
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Hypoplasia of penis, Hypohidrosis, Exocrine pancreatic insufficiency, Mala... ORPHA:452
Shigellosis
Anorexia, Acute kidney injury, Urethritis, Myocarditis, Hemolytic-uremic syndrome, Acute colitis,... ORPHA:810
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Cog7-Cdg
Diarrhea, Abnormality of the kidney, Feeding difficulties ORPHA:79333
Inhalational Anthrax
Vomiting, Hypotension, Internal hemorrhage, Abnormal sweat gland morphology ORPHA:247257
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Acute Liver Failure
Acute kidney injury, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Vomiting, Nausea, Adrena... ORPHA:90062
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Tachycardia, Diarrhea, Abdominal pain, Hypotension, Nausea, Syncope ORPHA:98849
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Methimazole Embryofetopathy
Polyhydramnios, Esophageal atresia, Hypospadias, Tracheoesophageal fistula, Hypothyroidism, Abnor... ORPHA:1923
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Hypercholesterolemia, Diarrhea, Esophageal varix, Portal hyper... OMIM:278000
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Cardiac arrest, Constipation, Epistaxis, A... ORPHA:99745
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Tachycardia ORPHA:70587
Vipoma
Neoplasm of the pancreas, Ascites, Abnormal gastrointestinal motility, Pituitary adenoma, Parathy... ORPHA:97282
Erythermalgia, Primary
Diarrhea, Constipation, Hyperhidrosis, Palpitations, Xerostomia OMIM:133020
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Pure Autonomic Failure
Urinary incontinence, Abnormality of circulating catecholamine level, Orthostatic hypotension, Dy... ORPHA:441
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Proximal tubulopathy, Dehydration, Vomiting, Type I diabetes mellitus OMIM:560000
Dietary Iron Overload Disease
Abnormal adrenal morphology, Congestive heart failure, Abnormal pancreas morphology, Hepatocellul... ORPHA:139507
Yao Syndrome
Diarrhea, Abdominal pain, Nephrolithiasis, Pericarditis, Xerostomia OMIM:617321
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Dehydratio... OMIM:300200
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abdominal pain... ORPHA:131
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Esophageal atresia, Hypoplasia of penis, Diabetes insipidus, Anterior pituitar... ORPHA:3157
Ethylmalonic Encephalopathy
Diarrhea, Lactic acidosis, Ethylmalonic aciduria ORPHA:51188
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Acute kidney injury, Abnormal T-wave, Lactic acidosis, Prolonged QT int... ORPHA:466650
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Portal hypertension OMIM:617068
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria OMIM:250900
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri... OMIM:277320
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Vaginal stricture, Esophageal stricture, Urethral stricture, Abnor... ORPHA:79409
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Hereditary Fructose Intolerance
Abdominal distention, Metabolic acidosis, Episodic hyperhidrosis, Diarrhea, Abdominal pain, Chron... ORPHA:469
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Staphylococcal Necrotizing Pneumonia
Pleural empyema, Pleural effusion, Hypotension, Increased circulating procalcitonin concentration... ORPHA:36238
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Bladder Exstrophy
Epispadias, Bladder exstrophy, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urina... ORPHA:93930
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation, Hyperinsulinemia, Orthostatic hypotension, Orthostatic syncope, Diarrhea,... ORPHA:230
Congenital Enterovirus Infection
Myocarditis, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleural effusion, Peri... ORPHA:292
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Hypertension, Dehydration, Vomiting, Secretory diarrhea OMIM:616069
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Metabolic acidosis, Episodic vomiti... OMIM:246450
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis, Aganglionic megacolon ORPHA:2155
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Chronic diarrhea, Proximal tubulopathy, Esophageal varix, Peau d'orang... OMIM:614576
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Tachycardia, Abdominal pain, Infertility, Dyspareunia, Renal ... ORPHA:71273
Angioedema, Hereditary, 1
Diarrhea, Abdominal pain, Angioedema, Vomiting, Intestinal edema, Pharyngeal edema, Periorbital e... OMIM:106100
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Adams-Oliver Syndrome 6
Renal hypoplasia, Esophageal varix, Portal hypertension, Tricuspid regurgitation OMIM:616589
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Congestive heart failure, Diarrhea, Cardiac arrest, Paroxysmal atrial tachycardia, Diab... ORPHA:49827
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Pancreatitis, Cholelithiasis, Abdominal pain, Chronic diarrhea, Nausea and vomiting, He... ORPHA:65682
Immunodeficiency 57 With Autoinflammation
Diarrhea, Inflammation of the large intestine, Gastritis, Perianal abscess OMIM:618108
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hypertension, Colonic diverticula, Mitral regur... OMIM:173900
Acute Radiation Syndrome
Diarrhea, Hypotension, Vomiting, Telangiectasia ORPHA:454831
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Glomerulopathy, Hematuria, Diarrhea, Abdominal pain, Pleural effusion, A... ORPHA:36412
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Immunodeficiency 76
Chronic diarrhea, Colitis OMIM:619164
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration, Glycosuria, Nephropathy, Renal tubular dysfunction ORPHA:69076
Bresek Syndrome
Aganglionic megacolon, Vesicoureteral reflux, Hypoplasia of the bladder, Decreased testicular siz... ORPHA:85284
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edem... ORPHA:91500
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Fat malabsorption ORPHA:71
Rapadilino Syndrome
High, narrow palate, Diarrhea, High palate, Cleft palate, Feeding difficulties OMIM:266280
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Enterocolitis, Secretory diarrhea, Diffuse alveolar hemorrhage, Feeding diffic... OMIM:616050
Noonan Syndrome 7
Poor suck, Abnormal esophagus morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Impaire... OMIM:613706
Cystinosis
Delayed puberty, Nephropathy, Dehydration, Portal hypertension, Nephrogenic diabetes insipidus, V... ORPHA:213
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Polyhydramnios, Esophageal atresia, Urethrovesical occlusion, Congenital py... OMIM:226730
Inhalational Botulism
Diarrhea, Constipation, Nausea and vomiting, Urinary retention, Xerostomia ORPHA:254504
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Elevated pulmonary artery pressure, Bidirectional shunt, Anu... OMIM:619351
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Diarrhea, Acholic stools, Hypocholesterolemia, Fat malabsorption, Hepatic failure OMIM:607765
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lactic acidosis, Dicarboxylic aciduria, Prolonged QT interval, Fasting hyperinsulinemia, Diarrhea... ORPHA:71212
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Abnormal esophagus morphology, Constipation, Spontaneous esophageal perforation, Dysphagia, Malnu... OMIM:226600
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Adenohypophysitis
Impotence, Decreased circulating cortisol level, Decreased female libido, Reduced circulating pro... ORPHA:95512
Perry Syndrome
Hypotension ORPHA:178509
Scorpion Envenomation
Prominent U wave, Mixed respiratory and metabolic acidosis, Hypertension, Premature ventricular c... ORPHA:466677
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... ORPHA:90795
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Dicarboxylic aciduria, Diarrhea, Cardiomyopathy, Dehydration, Hypertrop... OMIM:212140
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Male infertility, Pancreatitis, Diarrhea, Hypercalciuria, Meconium ... OMIM:219700
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Esophageal varix, Hypertension, Ascites, Port... ORPHA:84081
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentr... ORPHA:1332
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption, Epistaxis, Cholelithiasis OMIM:211600
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Familial Pancreatic Carcinoma
Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Co... ORPHA:1333
Hereditary Mixed Polyposis Syndrome
Hyperplastic colonic polyposis, Thyroid carcinoma, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... ORPHA:1227
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Pericarditis, Hematochezia, Epistaxis, Myocarditis, Abd... ORPHA:73263
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Triokinase And Fmn Cyclase Deficiency Syndrome
Lactic acidosis, Pancreatitis, Chronic diarrhea, Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Hennekam-Beemer Syndrome
Abdominal pain, High palate, Hypotension, Vomiting, Telangiectasia of the skin, Arrhythmia ORPHA:2135
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Dysphagia, Early satiety, Gastric ulcer, Eosinophilic infiltration in the stomach... OMIM:147060
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Hyperhidrosis, Arrhythmia ORPHA:29822
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Diarrhea, Abdominal... OMIM:256700
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Proximal tubulopathy, Vomiting, Nausea, Increased circulating renin level OMIM:241150
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Panhypophysitis
Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol level, Decr... ORPHA:95513
Encephalopathy, Ethylmalonic
Chronic diarrhea, Lactic acidosis, Feeding difficulties, Ethylmalonic aciduria OMIM:602473
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Polyhydramnios, Hydroureter, Fetal megacystis, Microcolon, Hydronephrosis OMIM:619362
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, High palate, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma, Ascites, Portal hypertension, Epistaxis OMIM:619463
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Cerebral hemorrhage, Hypotension, Pulmonary ar... OMIM:263400
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Hematuria, Diarrhea, Vomiting, Nausea, Menorrhagia, Joint hemorrhage... ORPHA:324636
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Congestive heart failure, Increased circulating free T3, ... ORPHA:525731
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Ana... ORPHA:2973
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diarrhea, Abd... ORPHA:343
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anal fissure, Gastroesophageal reflux, Abnormal esophagus morphology, Ankyloglos... ORPHA:89842
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Colitis OMIM:613960
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormality of the kidney, Gastrointestinal hemorrhage, Melena, Muscle hemorrhage, A... ORPHA:464321
Boutonneuse Fever
Diarrhea, Abdominal pain, Vasculitis, Nausea, Renal insufficiency ORPHA:83313
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Ascites, Nausea, Facial telang... ORPHA:100085
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Abdominal pain, Hypotension, Hypermagnesiuria, Nephroca... ORPHA:428
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Retinal telangiectasia, Portal hypertension OMIM:617341
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Episodic vomiting, Abdominal pain, Dehydration, Ileoileal intu... OMIM:619377
Chromosome 19P13.13 Deletion Syndrome
Diarrhea, Abdominal pain, Vomiting, Constipation, Feeding difficulties OMIM:613638
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Plague
Hematemesis, Anorexia, Tachycardia, Diarrhea, Abdominal pain, Glossitis, Bloody diarrhea, Hypoten... ORPHA:707
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Cervix cancer, ... ORPHA:1772
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Intestinal Botulism
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia ORPHA:178481
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Poor suck, Unilateral cryptorchidism, Feeding difficulties, Chronic constipatio... OMIM:617788
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Esophageal varix, Hypertension, Renal cyst, Portal h... OMIM:216360
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis OMIM:259730
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe... OMIM:618433
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Aganglionic megacolon, Micropenis OMIM:613870
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituit... ORPHA:1359
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hemolytic-uremic syndrome, Pleural effusion, Nephrotic syndrome, Acute hep... OMIM:619644
Leptospirosis
Anorexia, Acute kidney injury, Diarrhea, Abdominal pain, Pleural effusion, Hypotension, Retinal h... ORPHA:509
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Dehydration, Malabsorption ORPHA:33355
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Bloody diarrhea, Villous atrophy OMIM:614328
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Diarrhea, Anuria, Hypertension, Hyperlipidemia OMIM:235400
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain, Abnormal testis morphology, Abnormality of the kidney ORPHA:54251
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Fatigable weakness of swallowing muscles, Hyperphosphatemia, Highly e... ORPHA:99845
Congenital Disorder Of Glycosylation, Type Ii
Gastroesophageal reflux, Diarrhea, High palate, Hypothyroidism, Nasogastric tube feeding OMIM:607906
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Decreased serum bicarbonate concentration, ... OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Dicarboxylic aciduria, Diarrhea, Vomiting, Arrhythmia, Elevated urinary... ORPHA:42
Sandhoff Disease
Urinary incontinence, Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain, Impoten... OMIM:268800
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Diabetes insipidus ORPHA:30925
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Hypergonadotropic hypogonadism, Nausea, Arrhythmia, Dilated cardiomyopathy OMIM:615084
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Abnormal renal morphology, Oligoz... ORPHA:48
Nelson Syndrome
Anterior hypopituitarism, Adrenocorticotropic hormone excess, Testicular neoplasm, Diabetes insip... ORPHA:199244
Celiac Disease, Susceptibility To, 1
Delayed puberty, Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Ab... OMIM:212750
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections, Proteinuria, Renal insufficiency, Moderate albuminuria OMIM:618882
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Acute pancreatitis, Vomiting, Naus... ORPHA:319218
Alg8-Cdg
Abnormality of the gastrointestinal tract, Hydrops fetalis, Diarrhea, Ascites, Vomiting, Feeding ... ORPHA:79325
Hereditary Folate Malabsorption
Anorexia, Gastroesophageal reflux, Glossitis, Diarrhea, Recurrent urinary tract infections, Nause... ORPHA:90045
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Steatorrhea, Hepatic failure OMIM:235555
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Metabolic acidosis, Renal tubular dysfunction, Glycosuria, Hype... OMIM:134600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Congestive heart failure, Abnormality of the endocrine system, Diarrhea, Primary... ORPHA:391487
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Diarrhea, Vomiting, Feeding difficulties, Methylmalonic aciduria OMIM:250940
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea, Polyhydramnios OMIM:266250
Dracunculiasis
Diarrhea, Nausea and vomiting ORPHA:231
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Colitis, Inflammation of the large intestine OMIM:619281
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Hypothyroidism, Type I diabetes mellitus, Ileus, Glomeruloneph... OMIM:304790
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Esophageal atresia, Gastroesophageal reflux, Rectovaginal fistula, Micr... ORPHA:2538
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Thyroiditis, Inflammation of the large intestine, Atrophic gastritis, ... ORPHA:436159
Fructose-1,6-Bisphosphatase Deficiency
Lactic acidosis, Metabolic acidosis, Intermittent lactic acidemia, Diarrhea, Increased urinary gl... ORPHA:348
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Malabsorption OMIM:229050
Waldenström Macroglobulinemia
Anorexia, Congestive heart failure, Gastrointestinal hemorrhage, Diarrhea, Vasculitis, Pleural ef... ORPHA:33226
Citrullinemia Type Ii
Hypertriglyceridemia, Pancreatitis, Diarrhea, Hepatocellular carcinoma, Delayed menarche, Hyperli... ORPHA:247585
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Chronic diarrhea, Hypohidrosis, Inflammation of the large intestine, Hypopituitari... ORPHA:98813
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Intestinal pseudo-obstruction, Diarrhea, Dermatan sulfate excretion in ... OMIM:309900
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Urinary incontinence, Episodic vomiting, Diarrhea, Cardiomyopathy, Impotence, Co... OMIM:105210
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Polyhydramnios, Esophageal varix, Ascites, Po... ORPHA:367
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252930
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Reye syndrome-like episodes, Cerebral ischemia, Vomiting, Nausea, Poor appetite, Feedin... ORPHA:927
Pheochromocytoma
Hypercalcemia OMIM:171300
Yellow Fever
Hematemesis, Acute kidney injury, Decreased serum bicarbonate concentration, Metabolic acidosis, ... ORPHA:99829
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Metabolic acidosis, Chronic diarrhea, Abdominal pain, Vesicoureteral re... OMIM:615895
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Kaposi Sarcoma
Diarrhea, Abnormality of the gastrointestinal tract, Lymphedema ORPHA:33276
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Glossitis, Chronic diarrhea, Poor appetite, Macroglossia ORPHA:2221
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Infantile Systemic Hyalinosis
Steatorrhea, Abnormality of the gastrointestinal tract, Abnormality of the adrenal glands, Chroni... ORPHA:2176
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Adiposis Dolorosa
Diarrhea, Hypothyroidism, Constipation, Telangiectasia of the skin, Xerostomia ORPHA:36397
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Crohn's disease, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa OMIM:616100
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Anal atresia, Tracheoesopha... ORPHA:59315
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid... ORPHA:99889
Caroli Disease
Anorexia, Cholelithiasis, Abdominal rigidity, Abdominal pain, Polycystic kidney dysplasia, Esopha... ORPHA:53035
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Aganglionic megacolon, Gastroesophageal reflux, Hypoplasia of penis, R... ORPHA:847
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Diarrhea, Abdominal pain, Recurrent urinary tract infections, Enterocolitis... OMIM:619802
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Colitis, Malabsorption, Protracted diarrhea, Villous atrophy OMIM:209920
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula... OMIM:615830
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Satoyoshi Syndrome
Diarrhea, Amenorrhea, Hypoplasia of the uterus, Malabsorption OMIM:600705
Chronic Graft Versus Host Disease
Anorexia, Abnormal esophagus physiology, Hematuria, Gastroesophageal reflux, Abnormal vagina morp... ORPHA:99921
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Abnormal urinary color ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Diarrhea, Bile duct proliferation, Hematochezia, Acholic stools, Hepatic failure OMIM:613812
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Pearson Syndrome
Steatorrhea, Chronic diarrhea, Cardiomyopathy, Dysphagia, Pancreatic fibrosis, Lacticaciduria, Ad... ORPHA:699
Plummer-Vinson Syndrome
Glossitis, Abdominal pain, Esophageal web, Poor appetite, Dysphagia, Tongue atrophy ORPHA:54028
Congenital Toxoplasmosis
Diarrhea, Ascites ORPHA:858
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Diarrhea, Neurogenic bladder, Type I diabetes mellitus, Malnutrition, Hypocho... ORPHA:96180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Enlarged kidney OMIM:615285
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Microcolon, Constipation, Hypohidrosis, Hypogonadism, Arrh... ORPHA:163746
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh... ORPHA:90362
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Ascites, Biliary hyperplasia, Oliguri... ORPHA:731
Aspergillosis
Abnormality of the kidney, Pleural effusion, Abnormal esophagus morphology, Intracranial hemorrhage ORPHA:1163
Fryns Syndrome
Aganglionic megacolon, Polyhydramnios, Hypospadias, Gastroesophageal reflux, Ectopic anus, Vesico... ORPHA:2059
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Diarrhea, Abdominal pain, Vasculitis, Vomiting, Constipation, Pericarditi... ORPHA:32960
Hardikar Syndrome
Decreased liver function, Hematemesis, Bilateral cleft palate, Hypertension, Intestinal malrotati... OMIM:301068
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Renal agenesis, Hy... OMIM:300514
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia OMIM:620632
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Enterokinase Deficiency
Diarrhea, Hypoproteinemic edema OMIM:226200
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Ileus, Abnormality of the endocrine system, Thyroiditis, Abnormal intestine morphology... ORPHA:37042
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... OMIM:236700
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Pancreatitis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Chronic diarrhea OMIM:614699
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Hypospadias, Hypoplasia of penis, Tracheoesophageal fistula, Cryptorchidism ORPHA:77298
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Diarrhea, Abdominal pain, Chronic gastritis, Esophagitis, ... OMIM:301074
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting, Abnormal urinary color, Hemoglobinuria ORPHA:90035
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Abdominal pain, Vomiting, Chronic constipation, Pe... OMIM:142680
Cog4-Cdg
Intermittent diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, F... ORPHA:263501
Feingold Syndrome Type 1
Abnormality of the kidney, Gastrointestinal atresia, Esophageal atresia, Vesicoureteral reflux, T... ORPHA:391641
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Bilateral cryptorchidism, Coronal ... OMIM:619859
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Mednik Syndrome
Diarrhea, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Immunodeficiency 40
Intermittent diarrhea, Chronic diarrhea, Rectal fistula, Focal active colitis OMIM:616433
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Ulcerative colitis, Crohn's disease, Colitis OMIM:618394
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Hypohidrosis, Dysphagia, Feeding difficulties, Achalasia, Esophageal ste... OMIM:615510
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Gastrointestinal atresia, Polyhydramnios, Rectal abscess, Bloody diarrhea, ... ORPHA:436252
Aicardi-Goutieres Syndrome 7
Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hypertension, Hypertrophic cardiomyopathy, Ne... OMIM:615846
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic diarrhea, Poor suck, Hypogonadism, Chronic constipation, Cryptor... ORPHA:500055
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Anasarca, Villous atrophy, Metabolic acidosis, Necrotizing enterocolitis, H... OMIM:619573
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Esophageal varix, Hepatocellular carcinoma, Ascites, ... ORPHA:64743
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Autosomal Agammaglobulinemia
Diarrhea, High palate, Malabsorption, Dehydration ORPHA:33110
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... OMIM:613388
Turcot Syndrome With Polyposis
Thyroid carcinoma, Intestinal polyposis, Melena, Diarrhea, Abdominal pain, Adenomatous colonic po... ORPHA:99818
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepati... OMIM:613489
Immunodeficiency 85 And Autoimmunity
Vomiting, Chronic diarrhea, Villous atrophy, Tube feeding OMIM:619510
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Impotence, Abnormality of the tongue muscle, Prolonged QRS complex... ORPHA:273
Cockayne Syndrome Type 1
Diarrhea, Hypertension, Cryptorchidism, Hypohidrosis, Proteinuria, Male hypogonadism, Renal insuf... ORPHA:90321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate OMIM:614069
Lysinuric Protein Intolerance
Oroticaciduria, Pancreatitis, Protein avoidance, Diarrhea, Increased circulating lactate concentr... OMIM:222700
Mucopolysaccharidosis, Type Iiib
Diarrhea, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Lactic acidosis, Oroticaciduria, Chronic diarrhea, Increased circulating lactate concentration, D... OMIM:620358
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Aganglionic megacolon, Renal hypoplasia/aplasia, Glandular hypospadias, Ectopic... ORPHA:2473
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Abnormality of the gastrointestinal tract, Oral-pharyngeal dyspha... ORPHA:2131
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Diarrhea, Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial... OMIM:619313
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Hydroureter, Vesicoureteral reflux, Cleft palate, Me... ORPHA:2604
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Mucopolysaccharidosis, Type Iiia
Diarrhea, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Duodenal ulcer, Malabsorption ORPHA:3217
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Anhidrosis, Urinary incontinence, Constipation OMIM:608654
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Premature ovarian insufficiency, Hypospadias, Vomiting, Esophageal ulceration, C... OMIM:176690
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea OMIM:613501
Avian Influenza
Congestive heart failure, Acute kidney injury, Diarrhea, Abdominal pain, Pleural effusion, Vomiting ORPHA:454836
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections OMIM:618495
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Cystic Fibrosis
Absent vas deferens, Steatorrhea, Rectal prolapse, Male infertility, Gastroesophageal reflux, Mec... ORPHA:586
Beta-Thalassemia Intermedia
Decreased liver function, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Hepatocellula... ORPHA:231222
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased glomerular filtration rate, Renal fibro... ORPHA:470
Microsporidiosis
Anorexia, Intermittent diarrhea, Urethritis, Prostatitis, Myocarditis, Adrenocortical abnormality... ORPHA:2552
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Diarrhea, Hepatocellular carcinoma, Hypothyroidism, Adrenal ... ORPHA:231226
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Polyhydramnios, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Hyd... OMIM:314390
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Decreased testicular size, Poor appetite, Hypogonadism, Decreased serum testosterone co... OMIM:201100
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Meconium Ileus
Chronic diarrhea, Meconium ileus, Microcolon OMIM:614665
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Pulmonary insufficiency ORPHA:277
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Good Syndrome
Diarrhea, Recurrent urinary tract infections, Dysphagia, Thymoma, Aplasia/Hypoplasia of the thymu... ORPHA:169105
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Dpm1-Cdg
Diarrhea, High, narrow palate, External genital hypoplasia, Gastrostomy tube feeding in infancy ORPHA:79322
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis, Chronic diarrhea, Urethral stricture, Colitis OMIM:301220
Caroli Syndrome
Hematemesis, Abnormality of the kidney, Pancreatitis, Melena, Abdominal rigidity, Abdominal pain,... ORPHA:480520
Combined Immunodeficiency Due To Zap70 Deficiency
Stomatitis, Chronic diarrhea, Nephrotic syndrome, Recurrent infection of the gastrointestinal tra... ORPHA:911
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea, Oral leukoplakia, Urethral stricture, Dilated cardiomyopathy, Esophageal stricture OMIM:613989
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Episodic vomiting, Diarrhea, Increased circulating lactate concentration, Vomiting, Cerebral edem... OMIM:618321
Fanconi-Bickel Syndrome
Abdominal distention, Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta ... OMIM:227810
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Portal hypertension, Hepatic failure OMIM:620367
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Chronic hepatic failure, Inappropriate antidiuretic hormone secretion, Portal hypertens... ORPHA:79124
Immunodeficiency 31C
Delayed puberty, Protein-losing enteropathy, Diarrhea, Gastrointestinal eosinophilia, Hypothyroid... OMIM:614162
Trichothiodystrophy 5, Nonphotosensitive
Decreased testicular size, Chronic diarrhea, Micropenis, Panhypopituitarism OMIM:300953
Immunodeficiency 17
Recurrent gastroenteritis, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula OMIM:615607
Alg9-Cdg
Enlarged kidney, Hydrops fetalis, Gastroesophageal reflux, Hypoplasia of the ovary, Diarrhea, Hyp... ORPHA:79328
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, E... ORPHA:309031
B4Galt1-Cdg
Diarrhea, Hypothyroidism, Edema ORPHA:79332
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Xanthelasma, Orthostatic hypote... ORPHA:186
Kindler Syndrome
Anal stenosis, Phimosis, Dysphagia, Telangiectasia of the skin, Oral leukoplakia, Urethral stenos... OMIM:173650
Reactive Arthritis
Recurrent aphthous stomatitis, Aortic regurgitation, Diarrhea, Abdominal pain, Recurrent urinary ... ORPHA:29207
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea, Macroglossia OMIM:618523
19P13.13 Microdeletion Syndrome
Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, High palate, Incr... ORPHA:357001
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Polyhydramnios, Decreased h... OMIM:619004
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Tachycardia, Chronic diarrhea, Pulmonary arterial hypertension, Vomiting, Bifid ... OMIM:614921
Omenn Syndrome
Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Hypothyroidism, Edema ORPHA:39041
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Timothy Syndrome
Hypocalcemia OMIM:601005
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology, Abnormali... ORPHA:252164
Biotinidase Deficiency
Diarrhea, Organic aciduria, Metabolic ketoacidosis, Vomiting, Feeding difficulties in infancy OMIM:253260
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Hyperhidrosis, Aganglionic megacolon, Prolonged QT interval, Arrhythmia ORPHA:2151
Wilson Disease
Abdominal distention, Increased urinary copper concentration, Hypoparathyroidism, Renal tubular d... OMIM:277900
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Nasal mucosa telangiect... ORPHA:774
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Diarrhea, Re... OMIM:307200
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Bifid uvula, Feeding difficulties in infancy OMIM:618779
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Hypertrophic cardiomyopathy ORPHA:1842
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Glycos... OMIM:616539
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Dyskeratosis Congenita
Neoplasm of the pancreas, Anorectal anomaly, Abnormal testis morphology, Tracheoesophageal fistul... ORPHA:1775
Isolated Agammaglobulinemia
Diarrhea, Malabsorption ORPHA:229717
Bloom Syndrome
Esophageal neoplasm, Premature ovarian insufficiency, Male infertility, Gastroesophageal reflux, ... ORPHA:125
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Diarrhea, Hepatocellular carcinoma, Hypothyroidism, Adrenal ... ORPHA:231214
Immunodeficiency 19
Chronic diarrhea OMIM:615617
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Edema, Abnormality of the bladder, U... ORPHA:79404
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Abdominal pain, Recurrent infection of the gastrointestinal tract, Recurrent aphthous s... ORPHA:486
Congenital Myopathy 20
Chronic diarrhea, High palate OMIM:620310
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Dysphagia OMIM:616029
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea OMIM:601457
Immunodeficiency 69
Diarrhea OMIM:618963
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Constipation, Nausea, Male sexual dysfunction, Female sexual dysfunction ORPHA:2828
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Liver Disease, Severe Congenital
Ascites, Biliary hyperplasia, Metabolic acidosis, Hypospadias, Chronic gastritis, Alpha-aminobuty... OMIM:619991
Graft Versus Host Disease
Gastrointestinal inflammation, Tachycardia, Stomatitis, Abdominal pain, Diarrhea, Vomiting, Nause... ORPHA:39812
Vacterl With Hydrocephalus
Renal hypoplasia/aplasia, Polyhydramnios, Esophageal atresia, Abnormal fallopian tube morphology,... ORPHA:3412
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Renal agenesis, Submuco... OMIM:619227
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix, Hypercholesterolemia, Portal hypertension, Bile duct proliferation OMIM:619662
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Chronic diarrhea, Portal hypertension, Hypothyroidism, Hashimoto thyroid... OMIM:613385
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Recurrent urinary tract infections, Thyroiditis, Hypothyroidism, Recurrent infection of... ORPHA:83471
Immunodeficiency, Common Variable, 8, With Autoimmunity
Villous atrophy, Chronic diarrhea, Thyroiditis, Hypothyroidism, Inflammation of the large intesti... OMIM:614700
Fryns Syndrome
Aganglionic megacolon, Ureteral duplication, Hypospadias, Esophageal atresia, Polyhydramnios, Mec... OMIM:229850
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Aortic regurgitation, Polycystic kidney dysplas... ORPHA:84064
Neuroblastoma
Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci... ORPHA:635
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Wiskott-Aldrich Syndrome
Hematemesis, Glomerulopathy, Chronic diarrhea, Vasculitis, Hypoplasia of the thymus, Internal hem... ORPHA:906
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Pericardial effusion, Pleural effusion ORPHA:411703
Bardet-Biedl Syndrome
Hypertriglyceridemia, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine ... ORPHA:110
Nijmegen Breakage Syndrome
Premature ovarian insufficiency, Anal stenosis, Diarrhea, Recurrent urinary tract infections, Ana... OMIM:251260
Shwachman-Diamond Syndrome 2
Steatorrhea, Hyperechogenic pancreas, Diarrhea, High palate, Exocrine pancreatic insufficiency OMIM:617941
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Gastroesophageal reflux, Recurrent urinary tract infections, Esophageal... OMIM:613658
Congenital Syphilis
Myocarditis, Hydrops fetalis, Pancreatitis, Diarrhea, High palate, Nephrotic syndrome, Malabsorption ORPHA:499009
Immunodeficiency 27A
Anorexia, Diarrhea OMIM:209950
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Melena, Diarrhea, Chronic diarrhea... OMIM:301000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Gastrointestinal hemorrhage, Lactic acidosis, Diarrhea, Increased urinary g... ORPHA:247598
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Dysuria, Esophagitis, Dysphagia, Helicobacter py... OMIM:618131
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Facial edema, Diarrhea, Functional abnormality of the gastrointe... ORPHA:221008
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Poor suck, Hepatic failure, Abnormality of the male genitalia, Renal tubular dysf... OMIM:614886
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Lactic acidosis, Metabolic acidosis, Diarrhea, Hepatocellular carcinoma, Re... OMIM:256810
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Ascites, Malabsorption, Bile duct proliferation OMIM:602347
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Abdominal distention, Vaginal stricture, Gastrointestinal inflammation, Vaginal dryness... ORPHA:95455
Cerebrotendinous Xanthomatosis
Xanthelasma, Cholelithiasis, Diarrhea, Angina pectoris, Myocardial infarction, Pseudobulbar paral... OMIM:213700
Fanconi Anemia, Complementation Group D2
Annular pancreas, Esophageal atresia, Ectopic kidney, Duplicated collecting system, Pelvic kidney... OMIM:227646
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea, Hypoplasia of the thymus OMIM:300400
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Urethral stenosis, Urethral stricture, Oral leukoplakia, Cryptorchid... OMIM:613990
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Ascites, Pulmonary arterial hypertension, Portal h... ORPHA:974
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Malabsorption, Hypogonadism, Telangiectasia OMIM:601675
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, ... OMIM:619381
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Delayed puberty, Anal fissure, Gastroesophageal reflux, Abnormalit... ORPHA:79408
Fanconi Anemia, Complementation Group L
Esophageal atresia, Unilateral renal agenesis, Aplasia of the uterus, Tracheoesophageal fistula, ... OMIM:614083
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Melena, Chronic diarrhea, Furrowed tongue OMIM:158310
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Diarrhea, Increased circulating free fatty acid level, Vomiting, Dilated cardiomyopathy OMIM:610768
Immunodeficiency 46
Chronic diarrhea OMIM:616740
Cushing Disease
Pedal edema, Secondary amenorrhea, Increased urinary cortisol level, Hypertension, Capillary frag... ORPHA:96253
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Vasculitis, Abdominal pain, Joint swelling OMIM:617099
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Diarrhea, Hypertension, Pleural effusion... OMIM:606721
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Abdominal pain, Renal artery aneurysm, Esophageal varix, Hypertension, Vasculitis, Portal hyperte... OMIM:615688
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Mucopolysaccharidosis, Type Iiid
Tube feeding, Diarrhea, Asymmetric septal hypertrophy, Dysphagia, Macroglossia, Mitral regurgitat... OMIM:252940
Immunodeficiency 48
Chronic diarrhea OMIM:269840
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Chronic diarrhea OMIM:620603
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Vasculitis OMIM:601979
Dubowitz Syndrome
Abnormal female external genitalia morphology, Rectal prolapse, Anal stenosis, Hypospadias, Hypop... ORPHA:235
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Polyhydramnios, Hypospadias, Galactosuria, Aortic regurgitation, Hepatic fa... OMIM:222470
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:100084
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Thyroiditis, Hypothyroidism, Type I diabetes mellitus, Villous atrophy OMIM:606367
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent aphthous stomatitis OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Protracted diarrhea, Diarrhea ORPHA:169160
Immunodeficiency 15B
Chronic diarrhea OMIM:615592
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Chronic diarrhea, High palate, Chronic constipation, Cryptorchi... OMIM:619005
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Telangiectasia ORPHA:158673
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Ogden Syndrome
Enlarged kidney, Tube feeding, Premature ventricular contraction, Dysphagia, Oligohydramnios, Nar... OMIM:300855
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea, Portal hypertension OMIM:619849
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Immunodeficiency 22
Diarrhea, Capillary leak, Ascites, Pericarditis, Protracted diarrhea OMIM:615758
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hype... ORPHA:91
Familial Gestational Hyperthyroidism
Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimula... ORPHA:99819
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Gastroesophageal reflux, Chronic diarrhea, Pleural effusion, Pulmonary arte... OMIM:620233
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimula... ORPHA:424
Apert Syndrome
Narrow palate, Ovarian neoplasm, Esophageal atresia, Ectopic anus, Hypertension, Cleft palate, Bi... ORPHA:87
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Abdominal pain, Vasculitis, Inflammation of the large intestine, M... ORPHA:793
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Protracted diarrhea, Recurrent infection of the gastrointestinal tract ORPHA:572
Kawasaki Disease
Myocarditis, Congestive heart failure, Glossitis, Abdominal pain, Diarrhea, Vasculitis, Pericardi... ORPHA:2331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Bloody diarrhea, Inflammation of the large intestine, Vasculitis in the skin, Hematoc... OMIM:617718
Caspase 8 Deficiency
Chronic diarrhea OMIM:607271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Anorexia, Gastrointestinal hemorrhage, Esophageal varix, High palate, Hypertension, Cerebral isch... ORPHA:394
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Congestive heart failure, Pancreatitis, Chronic diarrhea, Abdominal pain, S... ORPHA:3260
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Palpebral edema, Unilateral renal agenesis, Gastroesophageal reflux, Diarrhea, Recurrent urinary ... ORPHA:221139
Adams-Oliver Syndrome 5
Pulmonic stenosis, Esophageal varix, Pulmonary arterial hypertension OMIM:616028
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation... OMIM:265380
Fanconi Anemia, Complementation Group A
Male infertility, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hyperg... OMIM:227650
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Mevalonic Aciduria
Diarrhea, Elevated urine mevalonic acid level, Edema, Vomiting OMIM:610377
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Decreased circulating parathyro... OMIM:241530
Immunodeficiency 56
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic failure OMIM:615207
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hydrops fetalis, Congenital hydrocele, Abdominal pain, Diarrhea, Parotit... OMIM:620376
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia, Constipation, Malabsorption OMIM:250250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Distal Deletion 12Q
High, narrow palate, Annular pancreas, Maturity-onset diabetes of the young, Esophageal atresia, ... ORPHA:96149
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Anteri... ORPHA:2255
Dubowitz Syndrome
Hypospadias, Episodic vomiting, Gastroesophageal reflux, Chronic diarrhea, High palate, Hypochole... OMIM:223370
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Immunodeficiency 92
Chronic diarrhea, Esophagitis OMIM:619652
Hyper-Igd Syndrome
Diarrhea, Chronic diarrhea, Abdominal pain, Vomiting, Elevated urine mevalonic acid level, Renal ... OMIM:260920
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, High palate, Constipation, Feeding difficulties OMIM:618050
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia OMIM:617913
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Hyperhidrosis, Secretory diarrhea OMIM:167100
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea, High palate, Pyloric stenosis, Submucous cleft hard palate, Supernumerary nipple ORPHA:457279
African Trypanosomiasis
Myocarditis, Congestive heart failure, Abnormality of renin-angiotensin system, Urinary incontine... ORPHA:3385
Hurler Syndrome
Angina pectoris, Chronic diarrhea, Hypertension, Cardiomyopathy, Mucopolysacchariduria, Feeding d... ORPHA:93473
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Polyhydramnios, Gastroesophageal reflux, Cholelithiasis, C... OMIM:618268
Listeriosis
Myocarditis, Acute kidney injury, Congestive heart failure, Arteritis, Diarrhea, Abdominal pain, ... ORPHA:533
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Specific Granule Deficiency 2
Intractable diarrhea OMIM:617475
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Phimosis, Esophagitis, Inflammation of the large intestine, Dysphagia, A... ORPHA:2908
Erythroderma Desquamativum
Diarrhea ORPHA:314
Transcobalamin Ii Deficiency
Diarrhea, Methylmalonic aciduria, Vomiting OMIM:275350
Primary Ciliary Dyskinesia
Intestinal malrotation, Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... OMIM:618213
Immunodeficiency 112
Chronic diarrhea OMIM:620449
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism... ORPHA:64
Trisomy 18
Narrow palate, Esophageal atresia, Anal atresia, Abnormality of the upper urinary tract, Cleft pa... ORPHA:3380
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Vasculitis in the skin, High palate, Esophageal stricture OMIM:615816
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Selective Igm Deficiency
Thyroid carcinoma, Stomach cancer, Recurrent urinary tract infections, Chronic diarrhea, Crohn's ... ORPHA:331235
Immunodeficiency 7
Diarrhea OMIM:615387
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Pancreatic hypoplasia, D... ORPHA:99885
Apert Syndrome
Narrow palate, Esophageal atresia, Ectopic anus, Pyloric stenosis, Bifid uvula, Cleft palate, Hyd... OMIM:101200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Agammaglobulinemia, X-Linked
Prostatitis, Recurrent urinary tract infections, Chronic diarrhea, Hepatocellular carcinoma, Epid... OMIM:300755
Pancreatoblastoma
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Pancreatic calcification ORPHA:677
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Glycosuria, Pulm... OMIM:600001
Rothmund-Thomson Syndrome Type 2
Facial edema, Diarrhea, Functional abnormality of the gastrointestinal tract, High palate, Vomiti... ORPHA:221016
Zttk Syndrome
Polyuria, Intestinal atresia, Unilateral renal agenesis, Horseshoe kidney, Aortic regurgitation, ... OMIM:617140
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Uterus didelphys, Cleft palate, Absent gallbladder, Septate vagina, Hamartoma of to... OMIM:617925
Immunodeficiency 12
Esophageal stricture, Recurrent aphthous stomatitis OMIM:615468
Occipital Horn Syndrome
Orthostatic hypotension, Chronic diarrhea, High palate, Ureteral obstruction, Hydronephrosis, Bla... OMIM:304150
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Microphthalmia, Syndromic 3
Hypospadias, Esophageal atresia, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypog... OMIM:206900
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Enlarged kidney, Epis... OMIM:615873
Biliary, Renal, Neurologic, And Skeletal Syndrome
Ascites, Left-to-right shunt, Dark urine, Edema, Stage 5 chronic kidney disease, Dilatation of th... OMIM:619534
Feingold Syndrome
Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea OMIM:619824
Waardenburg Syndrome, Type 4C
Cryptorchidism, Lacrimal gland hypoplasia, Aganglionic megacolon, Hypogonadism OMIM:613266
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea, Adrenal cortical sclerosis, Aplasia of the thymus, Diffuse mesangial ... OMIM:102700
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Vomiting ORPHA:3240
Rat-Bite Fever
Myocarditis, Pancreatitis, Diarrhea, Parotitis, Vomiting, Pericarditis ORPHA:31205
Acrodermatitis Enteropathica
Anorexia, Glossitis, Chronic diarrhea, Furrowed tongue, Poor appetite, Malabsorption ORPHA:37
Vater/Vacterl Association
Ectopic kidney, Esophageal atresia, Hypospadias, Vesicoureteral reflux, Anal atresia, Tracheoesop... OMIM:192350
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea, Rectal abscess OMIM:116920
Sarcoidosis
Hypercalcemia ORPHA:797
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Esophageal atresia, Feeding difficulties in infancy OMIM:610536
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Charge Syndrome
Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Decreased response to g... OMIM:214800
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abdominal distention, Hydrops fetalis, Esophageal atresia, Hypoplasia of penis, Ectopic anus, Ana... ORPHA:93271
Japanese Encephalitis
Anorexia, Pulmonary edema, Diarrhea, Abdominal pain, Inappropriate antidiuretic hormone secretion... ORPHA:79139
Mucopolysaccharidosis Type 3
Intermittent diarrhea, Reduced left ventricular ejection fraction, Constipation, Mucopolysacchari... ORPHA:581
Gabriele-De Vries Syndrome
Breast hypoplasia, Decreased response to growth hormone stimulation test, Esophageal atresia, Ora... ORPHA:506358
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Rectal abscess OMIM:601495
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Arteritis, Chronic diarrhea, High palate, Malabsorption OMIM:233600
Abetalipoproteinemia
Congestive heart failure, Steatorrhea, Chronic diarrhea, Vomiting, Hypothyroidism, Hypocholestero... ORPHA:14
Ectodermal Dysplasia-Skin Fragility Syndrome
Anoperineal fistula, Abnormal tongue morphology, Chronic diarrhea, Hypohidrosis, Urethral stricture ORPHA:158668
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:612782
Dyskeratosis Congenita, X-Linked
Hypospadias, Phimosis, Decreased testicular size, Hyperhidrosis, Oral leukoplakia, Urethral steno... OMIM:305000
Riddle Syndrome
Diarrhea, Abdominal pain, Enuresis nocturna, Conjunctival telangiectasia, Intraventricular hemorr... ORPHA:420741
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Nijmegen Breakage Syndrome
Anal stenosis, Anorectal anomaly, Chronic diarrhea, Pollakisuria, Anal atresia, Cleft palate ORPHA:647
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Chronic diarrhea OMIM:600802
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Rothmund-Thomson Syndrome
Diarrhea, Infertility, Vomiting, Telangiectasia of the skin, Facial edema, Nasogastric tube feedi... ORPHA:2909
Feingold Syndrome 1
Gastrointestinal atresia, Annular pancreas, Polyhydramnios, Esophageal atresia, High palate, Tric... OMIM:164280
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Bifid uvula, Feeding difficulties, Hypogonadotropi... OMIM:301030
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Maternal Phenylketonuria
Abnormal renal morphology, High palate, Esophageal atresia, Bladder exstrophy ORPHA:2209
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Unicornuate uterus, Dysphagia, Oligohydramnios, Decrea... OMIM:619503
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Perianal dermatitis, Bloody diarrhea, Anal fissure ORPHA:294023
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Farber Disease
Hydrops fetalis, Chronic diarrhea, Ascites, Feeding difficulties, Joint swelling, Hepatic failure ORPHA:333
Phoar2-Enteropathy Syndrome
Hyperhidrosis, Secretory diarrhea OMIM:614441
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Diarrhea OMIM:308230
Sotos Syndrome
Hypercalcemia ORPHA:821
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Chronic diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux ORPHA:3164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea ORPHA:276
Omenn Syndrome
Diarrhea, Hypoplasia of the thymus OMIM:603554
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Azoospermia, Spontaneous, recurrent epistaxis, Esophageal varix,... ORPHA:2072
Aspartylglucosaminuria
Diarrhea, Aspartylglucosaminuria, Macroglossia, Mitral regurgitation, Macroorchidism OMIM:208400
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Genital ulcers, Aplasia of the thymus OMIM:602450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Palpebral edema, Chronic diarrhea, Recurrent urinary tract infections, Protruding ... ORPHA:99843
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Esophageal varix, Portal hypertension ORPHA:309854
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Rectovaginal fistula ORPHA:35078
Noonan Syndrome 1
High, narrow palate, Male infertility, Hypospadias, Chylothorax, Lymphedema, High palate, Hypertr... OMIM:163950
Ectodermal Dysplasia And Immunodeficiency 2
Chronic diarrhea, Hypohidrosis, Anhidrosis, Recurrent infection of the gastrointestinal tract, Ap... OMIM:612132
Ataxia-Telangiectasia
Delayed puberty, Chronic diarrhea, Abnormal spermatogenesis, Hypoplasia of the thymus, Female hyp... OMIM:208900
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Oral leukoplakia OMIM:224230
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Heart murmur... ORPHA:217085
Viss Syndrome
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Chr... OMIM:619472
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Heart murmur... ORPHA:217093
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea, Aplasia of the thymus OMIM:242700
Nmda Receptor Encephalitis
Orthostatic hypotension, Testicular teratoma, Diarrhea, Ovarian teratoma, Neoplasm of the thymus,... ORPHA:217253
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea ORPHA:169154
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Restrictive Dermopathy
Ureteral duplication, Polyhydramnios, Hypospadias, Congenital adrenal hypoplasia, Aplasia/Hypopla... ORPHA:1662
Chikungunya
Diarrhea, Vomiting, Epistaxis, Raynaud phenomenon, Joint swelling, Facial edema, Pedal edema ORPHA:324625
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Pulmonary arterial hypertension, Tracheoesophageal f... ORPHA:95430
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Horseshoe kidney, Gastroparesis, Gastroesophageal reflux, Unilateral renal agene... ORPHA:500150
Diamond-Blackfan Anemia 21
Chronic diarrhea, Aortic regurgitation OMIM:620072
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea OMIM:616005
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Immunodeficiency 47
Chronic diarrhea, Hypercholesterolemia, Exocrine pancreatic insufficiency, Tricuspid regurgitation OMIM:300972
Cerebrotendinous Xanthomatosis
Hypothyroidism, Chronic diarrhea, Cholelithiasis, Increased circulating lactate concentration ORPHA:909
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Protracted diarrhea ORPHA:331206
Mucopolysaccharidosis Type 2
Chronic diarrhea, Hypertension, Cardiomyopathy, Arrhythmia, Macroglossia ORPHA:580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Feeding difficulties OMIM:618278
Immunodeficiency 55
Diarrhea OMIM:617827
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800

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 Slc9a3

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 Slc9a3.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc9a3r2tm1a(EUCOMM)Wtsi Slc9a3r2tm2a(EUCOMM)Hmgu PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Slc9a3r2tm2a(EUCOMM)Hmgu PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc9a3r2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Slc9a3r2tm1a(EUCOMM)Wtsi PMC6459510
A high-throughput in vivo screening method in the mouse for identifying regulators of metastatic colonization. Nature protocols (November 2017) Slc9a3r2tm2a(EUCOMM)Hmgu 29095442
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Slc9a3r2tm2a(EUCOMM)Hmgu PMC5827107

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
Slc9a3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slc9a3tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Slc9a3tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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