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Gene: Trpv5 MGI:2429764

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transient receptor potential cation channel, subfamily V, member 5
Synonyms:
CaT2,  ECaC1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Trpv5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trpv5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300009
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Renal phosphate was... OMIM:612286
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos... ORPHA:99879
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Hereditary Central Diabetes Insipidus
Polydipsia, Vomiting, Diarrhea, Weight loss ORPHA:30925
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Renal phosphate wasting, Hypophosph... OMIM:612287
5-Oxoprolinase Deficiency
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Dent Disease
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... ORPHA:1652
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Gl... OMIM:615605
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300554
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,... ORPHA:157215
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemi... ORPHA:89937
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Rickets, Generalized aminoaciduria, H... OMIM:613388
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost... OMIM:614732
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium conc... OMIM:241530
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Coxa valga, Genu valgum, Hypophosphatemic rickets, Medullary nephrocalcinosis,... OMIM:613312
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Polydipsia, Failur... OMIM:125800
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Polydipsia, Failur... OMIM:304800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Hypophosphatemia, Nephrocalcinosis, Aminoa... OMIM:616026
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... OMIM:606528
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Hypercalcemia, Metaphys... OMIM:156400
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... ORPHA:2088
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Brunner Syndrome
Self-injurious behavior, Diarrhea, Impulsivity, Aggressive behavior OMIM:300615
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria OMIM:239199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Malabsorption, Nephrolithiasis, Abdominal pain OMIM:222900
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... ORPHA:352540
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... OMIM:179800
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci... ORPHA:18
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hypouricemia, Rickets, Hypercalciuria, G... OMIM:227810
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... ORPHA:411629
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating reni... OMIM:613677
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... ORPHA:199343
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp... ORPHA:289176
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl... ORPHA:223
Cystinosis
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Aminoaciduria, Hypokalemia,... ORPHA:213
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Weight loss ORPHA:52416
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ano... OMIM:241500
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciu... OMIM:612780
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst ORPHA:2668
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria OMIM:614265
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis OMIM:145980
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... ORPHA:3337
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Failure ... OMIM:608971
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... ORPHA:388
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Chronic Hiccup
Abnormal eating behavior, Malnutrition, Weight loss ORPHA:396
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, Hypocalcemia, Hypophosphatemia, Abnormal bo... ORPHA:93160
Rabies
Nausea and vomiting, Attention deficit hyperactivity disorder, Anorexia, Diarrhea ORPHA:770
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Chronic mucocutaneous candidiasis, Hyper... ORPHA:36913
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short humeru... OMIM:239000
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Parathormone-independent increased renal t... ORPHA:405
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal sa... OMIM:601678
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Mccune-Albright Syndrome
Hyperphosphaturia, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Hepati... ORPHA:562
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Nephrolithiasis OMIM:617343
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Hypokalemia, Dexamethasone... ORPHA:251274
Autosomal Dominant Hypocalcemia
Eczema, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypoca... ORPHA:428
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... ORPHA:141152
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive OMIM:615863
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Nephrolithiasis, Cystinuria, Hypocalcemia, Polyphagia OMIM:606407
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... OMIM:241200
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology ORPHA:85447
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, R... ORPHA:99880
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, R... ORPHA:143
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... OMIM:617638
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... OMIM:612075
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Familial Expansile Osteolysis
Hydroxyprolinuria, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal ... ORPHA:103907
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Osteomalacia, ... OMIM:277900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea OMIM:620270
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, ... ORPHA:231580
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... ORPHA:35710
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administrat... OMIM:612462
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria ORPHA:284400
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bone trabeculae, Hypo... OMIM:264700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive OMIM:560000
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Abnormality of the u... ORPHA:2204
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... OMIM:619743
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Immunodeficiency 48
Eczematoid dermatitis, Diarrhea, Failure to thrive, Pneumonia OMIM:269840
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... OMIM:606824
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Osteoporosis, Hypercalciuri... OMIM:615398
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteosclerosis, Chronic kid... ORPHA:416
Galactose Epimerase Deficiency
Nausea and vomiting, Aminoaciduria, Feeding difficulties, Weight loss ORPHA:79238
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia OMIM:618440
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density ORPHA:2611
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bone tr... ORPHA:289157
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldoste... ORPHA:369929
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokale... OMIM:617913
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Anorexia, Abdominal pain, Malabsor... ORPHA:3452
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Abdominal colic, C... ORPHA:976
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Chron... OMIM:619858
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Conjunctivit... ORPHA:94089
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Failure to thrive secondary to... OMIM:601457
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine ORPHA:46488
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Diar... ORPHA:2070
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Visceral Myopathy 1
Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Pancreatitis... OMIM:155310
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis ORPHA:2512
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... OMIM:145001
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... ORPHA:31824
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Dys... ORPHA:537
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Proteinuria, Thyroiditis, Hyperlipidemia, Osteoporosis, Nephrol... ORPHA:79259
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Abnormal circulating calcium concentration, Reduced bone mineral densit... OMIM:619795
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... ORPHA:247353
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre... OMIM:610600
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Abdominal pain, Malabsorption, Chronic kidney disease, Ch... ORPHA:85445
Sandhoff Disease, Juvenile Form
Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive ORPHA:309162
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Esophageal atresia, Obesity, Tracheoesophageal fistula, Cleft palate, Consti... ORPHA:3157
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Glutaric Aciduria Iii
Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting OMIM:231690
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp... ORPHA:358
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Hype... ORPHA:369837
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... OMIM:600081
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ... ORPHA:36234
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Dysuria, Eczema, Allergic r... OMIM:618131
Familial Hyperaldosteronism Type I
Polydipsia, Nausea ORPHA:403
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Increased... ORPHA:251004
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures OMIM:241410
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Hyperactivity, Keratitis, Diarrhea, Polydipsia, Failure to thr... ORPHA:525731
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Intermediate Osteopetrosis
Osteomyelitis, Cortical sclerosis, Generalized osteosclerosis, Hypocalcemia, Osteosclerosis of th... ORPHA:210110
Immunodeficiency 19
Recurrent otitis media, Chronic diarrhea, Failure to thrive OMIM:615617
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Liposarcoma
Nausea and vomiting, Abdominal pain, Abnormality of the kidney, Weight loss ORPHA:69078
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, C... OMIM:618999
Erdheim-Chester Disease
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Skin rash, Osteolysi... ORPHA:35687
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... ORPHA:31826
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... OMIM:616050
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Low urinary cyclic AMP response to PT... OMIM:103580
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Aggressive behavior, Abdominal pain, Feeding difficulties, High palate... OMIM:616809
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Tuberculosis
Weight loss ORPHA:3389
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low ... ORPHA:79444
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive beh... ORPHA:534
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Feeding ... ORPHA:3463
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:619971
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Oliguria, Weight loss, ... ORPHA:188
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Aggressive behavior, Chronic diarrhea, Feeding difficulties, Chronic constipat... OMIM:617788
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Hyposthenuria, Polydipsia, Hashimoto thyroiditis ORPHA:95513
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi... OMIM:176000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Neuroendocrine Tumor Of The Rectum
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... ORPHA:100082
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Diarrhea, Failure to thrive OMIM:613501
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting OMIM:264350
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypercalciuria, Reticulocytope... OMIM:557000
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc... ORPHA:2237
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Self-injurious behavior, Constipation, Vomiting OMIM:613638
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Gracile Bone Dysplasia
Micropenis, Decreased skull ossification, Hypocalcemia OMIM:602361
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia... ORPHA:398063
Albers-Schönberg Osteopetrosis
Osteomyelitis, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoarthritis, Arthritis, H... ORPHA:53
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac... OMIM:248360
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury ORPHA:54057
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Cachexia,... ORPHA:298
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr... ORPHA:330001
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... OMIM:614034
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Furrowed tongu... ORPHA:2930
Opsismodysplasia
Short metacarpal, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, Hypophosphat... OMIM:258480
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Thin bony... OMIM:265900
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
Microscopic Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Sinusitis, Episcleritis, Gastrointestin... ORPHA:727
Cog7-Cdg
Small for gestational age, Abnormality of the kidney, Diarrhea, Feeding difficulties, Failure to ... ORPHA:79333
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphate... OMIM:277440
Neuroendocrine Tumor Of The Colon
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Prot... ORPHA:100080
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Nausea, Abdominal pain, Abnormal fear-induced beh... ORPHA:100924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protracted diarrhea,... ORPHA:169160
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... ORPHA:229717
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph... ORPHA:1267
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, Esophageal neoplasm, Chr... ORPHA:1018
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Coxa valga, ... ORPHA:2484
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting OMIM:614736
Immunodeficiency 69
Diarrhea, Failure to thrive, Skin rash OMIM:618963
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Nephroblastoma
Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver, Nephroblastoma ORPHA:654
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Sclerosis of skull base, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis m... OMIM:607944
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent urinary tract infections, Anorexia, Diarrhea, Cheilitis, Gastroeso... ORPHA:90045
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Salmonella osteomyel... OMIM:209950
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... ORPHA:2290
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchie... OMIM:301220
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of... ORPHA:2635
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Gastroesophageal reflux, ... ORPHA:589821
Immunodeficiency 46
Chronic diarrhea, Failure to thrive, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Vomiting, Failure to thrive OMIM:616069
Caffey Disease
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... OMIM:114000
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Vomiting, Protein-l... OMIM:602579
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph... ORPHA:228371
Immunodeficiency 15B
Chronic diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615592
Galactosemia I
Diarrhea, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Vomit... OMIM:230400
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... ORPHA:653
Immunodeficiency 56
Cholangitis, Hepatic failure, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent si... OMIM:615207
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic aciduria, Vomiting, Intermittent diarrhea, Failure to thrive... ORPHA:289504
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic ... ORPHA:90038
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Fatal Familial Insomnia
Constipation, Urinary retention, Dysphagia, Weight loss OMIM:600072
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Lymphocytic interstitial pneumonia, Diarrhea, Recurrent otiti... OMIM:618495
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Recurrent pne... ORPHA:731
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... OMIM:203800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Enlarged kidney OMIM:615285
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Hydroxyprolinuria OMIM:602080
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Steatorrhea, Hypoph... ORPHA:699
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Weight loss, Keratoconjunctivitis, Organic aciduria, Perio... ORPHA:79242
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Recurrent otitis ... ORPHA:277
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Ep... OMIM:249100
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short foot, Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly ORPHA:166277
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... OMIM:256700
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... ORPHA:544482
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain OMIM:615399
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Hypocalcemia, Micropenis OMIM:607143
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Senior-Loken Syndrome 9
Osteopenia, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Agitation, ... ORPHA:927
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia OMIM:235255
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hypocalcemia, Osteopetrosis, Cal... OMIM:259700
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Rabson-Mendenhall Syndrome
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Abdo... ORPHA:79101
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Junctional Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Gastrointestinal inflammation ORPHA:79405
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Raine Syndrome
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Hydr... OMIM:259775
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Abnormal pelvic girdle bone morphology, A... ORPHA:2097
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Abnormalit... ORPHA:166119
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium OMIM:611489
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic syndrome, Focal segmental g... OMIM:617303
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Osteolysis, Abnormality of the kidney ORPHA:2591
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia OMIM:244460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... ORPHA:340
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Poor appetite, Anorexia, Bowel urgency, Hematemesis, Lack of bowel sounds, B... ORPHA:100075
Familial Pancreatic Carcinoma
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... ORPHA:1333
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Osteogenesis Imperfecta
Osteopenia, Bowing of the long bones, Protrusio acetabuli, Fractures of the long bones, Abnormal ... ORPHA:666
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver func... ORPHA:79319
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Salt craving, Hypercalce... ORPHA:95409
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... ORPHA:77297
Cranioectodermal Dysplasia 1
Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteoporosis, Stage 5... OMIM:218330
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis ORPHA:2221
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation ORPHA:254504
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Focal Myositis
Myositis, Weight loss ORPHA:48918
Late-Onset Junctional Epidermolysis Bullosa
Abnormality of the urinary system, Gastrointestinal inflammation ORPHA:79406
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperaldosteronism, Increased circulat... ORPHA:508
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Ethylmalonic aciduria ORPHA:51188
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper ta... ORPHA:73223
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Elevated circ... OMIM:620366
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Sepsis In Premature Infants
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Oliguria... ORPHA:90051
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex OMIM:176920
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... ORPHA:75233
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Patent ductus arteriosus, Renal dysplasia OMIM:300990
Celiac Disease, Susceptibility To, 1
Eczema, Osteoporosis, Rickets, Thyroiditis, Hypocalcemia, Recurrent aphthous stomatitis, Steatorr... OMIM:212750
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis OMIM:612692
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Hypocalcemia OMIM:601005
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bone cyst, Bronchiectasis, Hypercalciuria, Uveitis, Arthritis, Inflammat... OMIM:181000
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular infla... ORPHA:49041
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the urinary system, Gastrointestinal inflammation ORPHA:79411
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Hypercalciuria, Osteolysis, Nephrolithiasis, Reduced bone mineral densit... ORPHA:652
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Diarrhea, Weight loss, Agitation ORPHA:424
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Malabsorption, Xerostomia, Oliguria, Arthritis, Gastroe... ORPHA:220393
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Bone cyst, Nephrol... ORPHA:797
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Abnormality of the kidney, Weight loss ORPHA:54251
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Poor appetite, Nausea, Diarrhea, Vomiting, Acute kidn... ORPHA:542323
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Incre... ORPHA:183
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad... ORPHA:29073
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroidit... ORPHA:139402
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic oral candidiasis, Failure to... OMIM:300400
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Abnormality of the urinary s... ORPHA:2552
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, ... OMIM:619802
Acute Intermittent Porphyria
Dark urine, Restlessness, Renal insufficiency, Nausea and vomiting, Dysuria, Urinary incontinence... ORPHA:79276
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Conjunctivitis, Dysphagia ORPHA:99824
Cranio-Osteoarthropathy
Deviation of finger, Abnormal tibia morphology, Abnormal cortical bone morphology, Clubbing of toes ORPHA:1525
Williams-Beuren Syndrome
Osteopenia, Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal rena... OMIM:194050
Classic Hodgkin Lymphoma
Poor appetite, Skin rash, Anorexia, Weight loss ORPHA:391
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome ORPHA:2575
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea OMIM:235555
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Nephrolithiasis, Dysphagia, Nausea ORPHA:352447
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Osteomalacia, Nephrocalcinosis, Abnormal calcification of the carpal bones, Hy... ORPHA:51608
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss ORPHA:83469
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Polyphagia, Enuresis, Self-injur... ORPHA:293987
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting OMIM:300200
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis OMIM:203300
Huntington Disease-Like 2
Weight loss ORPHA:98934
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria ORPHA:90035
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteolysis involving bones of the upper limbs, Abnor... ORPHA:73
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent oti... OMIM:240500
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Ethylmalonic aciduria, Feeding difficulties OMIM:602473
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappropriate laughter, Dysph... ORPHA:85278
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Acrodermatitis Enteropathica
Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Weight l... ORPHA:37
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Delayed tarsal ossificatio... OMIM:140000
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Abdom... OMIM:619377
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Abdominal pai... ORPHA:767
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, ... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Early os... OMIM:208500
Legionnaires Disease
Nausea and vomiting, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Abdominal pain, My... ORPHA:549
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Urinary incontinence, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Pituitary Dermoid And Epidermoid Cysts
Nausea and vomiting, Polydipsia ORPHA:91351
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypercalcemia, Anorexia, Decrea... ORPHA:85138
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal OMIM:619638
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Inflammation of the large intestin... OMIM:614576
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia, Weight loss ORPHA:514
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Immunodeficiency, Common Variable, 1
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Re... OMIM:607594
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Diarrhea, Weight loss ORPHA:99819
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Hypospadias, Hydronephrosis, Hypocalcemia OMIM:300712
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Caspase 8 Deficiency
Pneumonia, Chronic diarrhea, Failure to thrive, Eczema OMIM:607271
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... ORPHA:904
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Cachexia, Ileus, Constipation, Self-mutilation ORPHA:52503
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abdominal pain, Orchitis, ... ORPHA:556
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea ORPHA:90003
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal cortical bone morphology, Abnormal hip bone morphology ORPHA:1486
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Steatorrhea, Chronic sinusitis, Pancreatitis OMIM:219700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia, Diarrhea, Vomiting, Decr... ORPHA:42
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Osteoporosis, Thickened glomerular b... ORPHA:2614
Isaacs Syndrome
Weight loss ORPHA:84142
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Malabsorption, Di... ORPHA:98850
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Anorexia,... ORPHA:361
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Abnormal cor... OMIM:614886
Hennekam Syndrome
Craniosynostosis, Ectopic kidney, Horseshoe kidney, Hypocalcemia, Erysipelas ORPHA:2136
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Pneumon... ORPHA:26793
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Mucopolysacchariduria, Hypocalcemia, Abnormal bone ossification ORPHA:175
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin rash, A... ORPHA:36412
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Typhoid
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... ORPHA:99745
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Patent ductus arteriosus, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss ORPHA:33276
Immunodeficiency 7
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615387
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Vomiting... OMIM:619510
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection o... OMIM:613489
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Renal Fanconi syndrome, ... ORPHA:263455
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis media OMIM:618523
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Sagittal craniosynostosis OMIM:616901
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gast... ORPHA:732
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Hyperactivity, Diarrhea, Aggressive behavior OMIM:252920
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... ORPHA:116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, F... OMIM:242860
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... OMIM:150550
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapul... OMIM:619644
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Nausea ORPHA:83313
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Increased cir... ORPHA:231625
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Methanol Poisoning
Diarrhea, Addictive alcohol use, Vomiting, Abdominal pain ORPHA:31825
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Diarrhea ORPHA:56425
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Aggressive behavior, Compulsive behaviors, Attention deficit... ORPHA:476126
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency, Crohn's disease OMIM:619621
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Esophageal stricture, Abnormality of the urinary system, Gastrointestinal inf... ORPHA:79409
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophagea... OMIM:201475
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Failure to thrive, Colitis, Pancreatitis OMIM:615947
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Neonatal epiphyseal stippling, Epiphyseal stippling, Hyperphosphatemia... OMIM:101800
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Mulibrey Nanism
Cachexia ORPHA:2576
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Wilson Disease
Acute hepatic failure, Aggressive behavior, Hypersexuality, Increased body weight, Hepatitis, Wei... ORPHA:905
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney injury ORPHA:449285
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... ORPHA:171876
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation ORPHA:36397
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... OMIM:259720
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
American Trypanosomiasis
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss ORPHA:1842
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... OMIM:304790
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... ORPHA:391641
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Nausea, Gastrointestinal obstruction, Weig... ORPHA:100078
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Chronic diarrhea OMIM:614699
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Dys... ORPHA:36426
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... ORPHA:572
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Adamantinoma
Hypercalcemia ORPHA:55881
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho... ORPHA:100086
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Diarrhea, Renal tubular acidosis, Dysphagia, Failure to thrive OMIM:616457
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy, Pancreatitis OMIM:618805
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Familial Colorectal Cancer Type X
Nausea and vomiting, Renal neoplasm, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, ... ORPHA:440437
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Feeding difficulties in infancy, Chronic diarrhea, ... ORPHA:500055
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... OMIM:270420
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... OMIM:620330
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... ORPHA:679
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea ORPHA:79455
Immunodeficiency 17
Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent... OMIM:615607
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Aspiration pneumonia, Dysphagia, Weight loss ORPHA:216866
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Abnormal eating behavior, Pancreatitis, Diarrhe... ORPHA:247585
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a... ORPHA:100079
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic diarrhea, Submucous... OMIM:617140
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Abdominal pain, Weight loss, Hydronephrosis ORPHA:449400
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss ORPHA:1164
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Failure to thrive in infancy, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis OMIM:617099
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic... ORPHA:488627
22Q11.2 Deletion Syndrome
Hypospadias, Acne, Seborrheic dermatitis, Patent ductus arteriosus, Renal hypoplasia, Multiple su... ORPHA:567
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr... ORPHA:343
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... ORPHA:99867
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Failure to thrive, Fat malabsorption OMIM:211600
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Nephr... ORPHA:449427
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Hematur... ORPHA:90068
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dicarboxylic aciduria, Vomiting, Diarrhea OMIM:212140
Fabry Disease
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom... OMIM:301500
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to th... ORPHA:35858
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Recurrent urinary tract infections, Rickets, Reduced bone mineral density, Hypoalbumi... OMIM:613658
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver function, F... OMIM:608104
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Prot... ORPHA:85443
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Aggressive behavior ORPHA:97229
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Micropenis, High palate, Diarrhea OMIM:300215
Oromandibular Dystonia
Bruxism, Dysphagia, Weight loss ORPHA:93958
Lynch Syndrome
Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorp... ORPHA:144
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis, Hypophosphatemia, Ot... ORPHA:667
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Diarrhea, Weight loss, Agitation, Vomiting, Oral aversion ORPHA:134
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Feeding difficulties OMIM:255120
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Acne, Renal salt wasting, Long penis, Hypokalemia, Increase... ORPHA:90795
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Abnormal urine potassium ... ORPHA:168558
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hepatitis, Steatorrhea, Hematochezia, Acholic stools, Hepatic failure, Failure to thrive OMIM:613812
Liver Disease, Severe Congenital
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... OMIM:619991
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Polyuria, Diarrhea, Feeding difficulties, Vomiting, Recurrent pancreat... OMIM:606721
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Hypospadias, Esophagitis, Feeding difficulties ORPHA:79350
Young-Onset Parkinson Disease
Restless legs, Gastroparesis, Impulsivity, Diarrhea, Constipation, Agitation, Nausea ORPHA:2828
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Bronchial Neuroendocrine Tumor
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure ORPHA:97287
Glycogen Storage Disease Ib
Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis,... OMIM:232220
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Hyperactivity, Diarrhea OMIM:252900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Abnormal urine potassium ... ORPHA:289548
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Malabsorption, Atypical or prolonged he... ORPHA:83471
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena... OMIM:619351
Tropical Pancreatitis
Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea ORPHA:103918
Hypophosphatasia
Hypercalcemia, Craniosynostosis ORPHA:436
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pneumonia, Abdominal pain, Diarrhea, Rhinitis, Periodontitis, Recurren... ORPHA:486
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Hyperkalemia... ORPHA:90791
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Functional abnormality o... ORPHA:391487
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal o... ORPHA:160
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Dysphagia, Weight loss ORPHA:142
Acute Promyelocytic Leukemia
Anorexia, Abdominal pain, Weight loss, Hematuria, Addictive alcohol use, Stomatitis ORPHA:520
Relapsing Fever
Abdominal pain, Diarrhea, Hematuria, Abnormality of the urinary system, Vomiting, Acute kidney in... ORPHA:91547
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Phimosis, Esophageal stricture, Neoplasm of the ur... ORPHA:2908
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Odynop... ORPHA:319213
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Pneumonia, Skin rash, Abnormal circulating... ORPHA:2298
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Broad metacarpals,... OMIM:259600
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Stomatitis, Chronic pancreatitis, Gout, Hematuria, Focal segmen... OMIM:232240
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoid de... OMIM:242700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Vomiting, Abnormal intestine mor... OMIM:226300
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Abdominal pain... ORPHA:275761
Igg4-Related Thyroid Disease
Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Dysphagia, Hashimoto thyroiditis ORPHA:64744
Leishmaniasis
Rhinitis, Anorexia, Weight loss ORPHA:507
Syndromic Diarrhea
Villous atrophy, Small for gestational age, Hepatoblastoma, Gastritis, Renal hypoplasia, Bloody d... ORPHA:84064
Grfoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u... ORPHA:913
Digeorge Syndrome
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Patent ductus arteri... OMIM:188400
Immunodeficiency 22
Pericarditis, Diarrhea, Protracted diarrhea, Panniculitis, Chronic oral candidiasis, Failure to t... OMIM:615758
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Hepatitis, Weight loss, ... ORPHA:199299
Rett Syndrome
Cachexia, Gastroesophageal reflux, Constipation, Bruxism, Stereotypical hand wringing OMIM:312750
Moynahan Syndrome
Cachexia ORPHA:2574
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Intermittent diarrhea, Feeding difficulties, High palate, Constipation, Attention defic... OMIM:618050
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss ORPHA:221098
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Hyperactivity, Diarrhea, Dysphagia OMIM:252930
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Renal Nutcracker Syndrome
Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria... ORPHA:71273
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Failure to thrive, Recurrent aphthous stomatitis OMIM:612782
Osteogenesis Imperfecta, Type X
Osteopenia, Bowing of the long bones, Short femur, Nephrolithiasis, Tibial bowing, Genu valgum, D... OMIM:613848
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Glucagonoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Poor appetit... ORPHA:97280
Omenn Syndrome
Pneumonia, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Erythroderma, Failure to thrive ORPHA:39041
Classic Galactosemia
Diarrhea, Feeding difficulties, Vomiting, Attention deficit hyperactivity disorder, Hepatic failure ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Hereditary Late-Onset Parkinson Disease
Impulsivity, Spastic/hyperactive bladder, Weight loss, Chronic constipation, Agitation, Dysphagia ORPHA:411602
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, H... ORPHA:324636
Huntington Disease-Like 2
Weight loss OMIM:606438
Felty Syndrome
Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Recurrent pneumonia, S... ORPHA:47612
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormality of the urinary system, Gastrointestinal inflammation ORPHA:79410
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent ... OMIM:601495
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Good Syndrome
Recurrent urinary tract infections, Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasi... ORPHA:169105
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate, Pneumonia OMIM:614069
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis OMIM:619652
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea ORPHA:99828
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Feeding difficulties in infancy, Weight loss ORPHA:3208
Serotonin Syndrome
Restlessness, Diarrhea, Agitation, Hepatic failure, Acute kidney injury, Nausea ORPHA:43116
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Anorexia, Chronic kidney disease, Cranial hyp... ORPHA:330015
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Hyper-Igd Syndrome
Skin rash, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis, Vomiting, Chroni... OMIM:260920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Vomiting, Gastroesophageal reflux, Constipation, Glome... OMIM:223900
B4Galt1-Cdg
Inflammatory abnormality of the skin, Small for gestational age, Diarrhea ORPHA:79332
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive, Recurrent otitis media, Recurrent pneumonia OMIM:617475
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Sagittal craniosynostosis, Tubulointerstitial nephritis, Enuresis, Att... ORPHA:459061
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Erythroderma ORPHA:79456
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... ORPHA:33001
Oculodentodigital Dysplasia
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Camptodactyly of finger, Short hallux, Apl... ORPHA:2710
Klatskin Tumor
Cholangiocarcinoma, Abdominal pain, Weight loss ORPHA:99978
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... OMIM:614162
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, D... ORPHA:32960
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss ORPHA:764
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive, High palate OMIM:620310
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Urinary retention, Weight loss ORPHA:2126
Lysinuric Protein Intolerance
Protein avoidance, Pancreatitis, Oroticaciduria, Malnutrition, Diarrhea, Stage 5 chronic kidney d... OMIM:222700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injurious behavior, Con... ORPHA:371364
Avian Influenza
Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Acute kidney injury, In... ORPHA:454836
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... ORPHA:100085
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne, Secretory diarrhea, Elevated urinary prostaglandin E2 level OMIM:167100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
Caroli Disease
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdomin... ORPHA:53035
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, High, narrow palate, Di... OMIM:162300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Bronchiectasis, Inflammation of the large intestine, Rectovaginal... OMIM:619708
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria OMIM:275350
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Recurrent pneumonia OMIM:619824
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen... OMIM:278000
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Bowel incontinence ORPHA:702
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Anorexia, Abdominal pain, Weight loss, Hematuria, Arthritis, G... ORPHA:397
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Glomerulopathy, Acne, Abdominal pain, Retrobulbar op... ORPHA:117
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Renal interstitial edema, Steril... ORPHA:91500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Diarrhea, Recurrent cutaneous fungal i... ORPHA:276
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis ORPHA:52417
Gaisböck Syndrome
Hypertriglyceridemia, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circula... ORPHA:90041
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... OMIM:240300
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Brucellosis
Anorexia, Knee osteoarthritis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Epididy... ORPHA:1304
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Finger syndactyly, Increased bone mineral density, Hypospadias, Aplast... ORPHA:2658
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, M... ORPHA:221008
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin bony cortex, Generalized osteoporosis, Femoral bowing OMIM:617952
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Esophageal varix, Increased body weight, Hepatocellular adenoma, Renal tubular acidosis... ORPHA:264580
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Diarrhea, Vomiting... ORPHA:71212
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Anal fiss... ORPHA:79408
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Esophageal Atresia
Barrett esophagus, Small for gestational age, Renal agenesis, Failure to thrive in infancy, Intes... ORPHA:1199
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Nausea and vomiting, Weight loss ORPHA:3226
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Vomiting, Diarrhea OMIM:610768
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplastic ane... ORPHA:2909
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Renal insufficiency, Abnormal large intestine physiolo... ORPHA:171
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr... OMIM:175200
Granulomatosis With Polyangiitis
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusit... ORPHA:900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Hypospadias, Poor appetite, Feeding difficulties in infancy, High, nar... ORPHA:96182
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Aggressive behavior, Oral-pharyngeal dysphag... ORPHA:2131
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Pancre... ORPHA:370348
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Impulsivity, Atopic dermatitis, Bruxism, Dysphagia, Urinary urgency, S... OMIM:619503
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, A... ORPHA:221016
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... OMIM:606812
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, H... ORPHA:2538
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Proteinuria, Feeding difficulties in infancy, Diarrhea, Renal cyst... OMIM:212065
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria, Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive OMIM:620358
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d... ORPHA:209905
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Follicular Lymphoma
Weight loss ORPHA:545
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Increased body weight, Hepatocellular adenoma, Renal tubular acidosis, Vomiting, Hepato... ORPHA:79240
Mast Cell Sarcoma
Weight loss ORPHA:66661
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior OMIM:192430
Pachydermoperiostosis
Splenomegaly, Osteoporosis, Osteolysis, Small hand, Clubbing of toes, Abnormal epiphysis morpholo... ORPHA:2796
Glycogen Storage Disease Ia
Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis,... OMIM:232200
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... ORPHA:533
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Chronic oral c... OMIM:308230
Mevalonic Aciduria
Failure to thrive in infancy, Skin rash, Diarrhea, Vomiting, Morbilliform rash, Failure to thrive... OMIM:610377
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... OMIM:615846
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, 3-Me... ORPHA:20
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:614441
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Diarrhea, Chronic mucocutaneous candidiasis, Urinary retention, Rec... ORPHA:79124
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hypocalcemia ORPHA:2306
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Diarrhea, M... OMIM:252940
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Feeding difficulties... OMIM:608836
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni... OMIM:102700
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Gm1 Gangliosidosis
Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Aspiration pneumonia, D... ORPHA:354
Renpenning Syndrome
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Anal atresia ORPHA:3242
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hepatocellular ca... ORPHA:186
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis... ORPHA:781
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Feeding difficulties, Abnormality o... ORPHA:813
Perry Syndrome
Weight loss ORPHA:178509
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Constipation, Gastroesophageal reflux OMIM:608643
Monosomy 13Q34
Fetal pyelectasis, Hypercalcemia ORPHA:96168
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... ORPHA:93672
Omenn Syndrome
Diarrhea, Failure to thrive, Pneumonia, Erythroderma OMIM:603554
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain, Small in... ORPHA:100093
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... ORPHA:93325
Riddle Syndrome
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Enuresis nocturna, Arthrit... ORPHA:420741
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Wiskott-Aldrich Syndrome
Glomerulopathy, Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthri... ORPHA:906
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Weight loss, Hem... ORPHA:97282
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture... ORPHA:99921
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation, Urinary incontinence OMIM:105210
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,... ORPHA:79128
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Intractable diarrhea, Congenital pyloric atresia OMIM:226730
Charge Syndrome
Renal agenesis, Patent ductus arteriosus, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hy... OMIM:214800
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Diarrhea, Recurrent pneumonia,... OMIM:309900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive OMIM:600802
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption ORPHA:96180
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Poor appetite OMIM:201100
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hypocalcemic seizures, Osteope... OMIM:612301
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Aplasia/hypoplasia of the femur, Hyperuricemia, Clinodactyly of t... ORPHA:2769
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Narrow palate, High palate, Cachexia OMIM:618186
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Melas
Proteinuria, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Focal segment... ORPHA:550
Adrenocortical Carcinoma
Increased urinary cortisol level, Abdominal pain, Increased body weight, Weight loss, Abnormality... ORPHA:1501
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Esophageal stricture, Chronic diarrhea, Gastroes... OMIM:617053
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia ORPHA:300605
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Malabsorption, Diarrhea ORPHA:33226
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea ORPHA:454831
Pneumocystosis
Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss ORPHA:723
Kawasaki Disease
Nausea and vomiting, Pericarditis, Proteinuria, Skin rash, Abdominal pain, Myocarditis, Diarrhea,... ORPHA:2331
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting, Atopic dermatitis ORPHA:3240
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Aggressive behavior, Diarrhea, Vomiting, Episodic vomiting OMIM:618321
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... ORPHA:3261
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Increased circulating cortisol level, Esophagiti... ORPHA:276152
Immunodeficiency 25
Recurrent pneumonia, Erythroderma, Protracted diarrhea OMIM:610163
Nijmegen Breakage Syndrome
Hyperactivity, Recurrent urinary tract infections, Sinusitis, Anal stenosis, Diarrhea, Recurrent ... OMIM:251260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Skin rash, Pustule, Chronic diarrhea, Acute otitis media, Recurrent... ORPHA:35078
Mcdonough Syndrome
Cachexia ORPHA:2471
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Atopic dermatitis, Weight loss ORPHA:2902
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Shwachman-Diamond Syndrome 2
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Abdominal pain, Malabsorption, Weight... ORPHA:79430
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Elevated urinary dopamine level, Rhinitis, Vomiting, Nocturia ORPHA:230
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Coxa valga OMIM:230600
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Increased urinary glycerol, Vomiting ORPHA:348
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Pgm3-Cdg
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... ORPHA:443811
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diarrhea, High pal... OMIM:233600
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Hepatitis, Gastr... OMIM:613385
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Esophageal stricture, Chronic diarrhea, Failure to thrive, Oral leukoplakia OMIM:613989
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Villous atrophy, Secret... OMIM:619573
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Diarrhea, Uveitis, Conjunctivitis, Failure to thrive ORPHA:90321
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Chronic constipation, High palate, Attention deficit hyperactivity disorder, De... OMIM:619005
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... OMIM:158310
Osteosarcoma
Weight loss ORPHA:668
Multiple Endocrine Neoplasia, Type I
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis OMIM:131100
19Q13.11 Microdeletion Syndrome
Failure to thrive, Hypospadias, Cachexia, Feeding difficulties ORPHA:217346
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Thymic Carcinoma
Weight loss ORPHA:99868
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Abdominal pain, Weight loss, Arthritis, Hepatocellular carcinoma, Chronic hep... ORPHA:465508
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Acne, Renal salt wasting, Long penis, Hyperka... ORPHA:90794
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... OMIM:620233
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea ORPHA:98849
Autosomal Dominant Cutis Laxa
Osteopenia, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Met... ORPHA:3206
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... ORPHA:206436
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic dia... OMIM:300755
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis OMIM:116920
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesis, Diarrhea,... ORPHA:221139
Cystic Echinococcosis
Abdominal symptom, Membranous nephropathy, Renal cyst, Weight loss ORPHA:400
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... OMIM:249420
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Alveolar Echinococcosis
Cholangitis, Abdominal pain, Renal cyst, Weight loss, Vomiting, Decreased liver function, Abnorma... ORPHA:284
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Diamond-Blackfan Anemia 7
Cleft palate, Horseshoe kidney, Recurrent otitis media, Esophagitis, Vesicoureteral reflux OMIM:612562
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, Failure to thrive, Erythroderma ORPHA:169154
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Failure to thrive, Pneumonia, Otitis media OMIM:602450
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, ... ORPHA:436252
Johanson-Blizzard Syndrome
Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Conjugated hyperbi... OMIM:243800
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Renal insufficiency, Pericarditis, Maculopapular exant... ORPHA:99826
Pitt-Hopkins Syndrome
Aganglionic megacolon, Aggressive behavior, Hiatus hernia, Feeding difficulties, Self-injurious b... ORPHA:2896
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... ORPHA:85408
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Pyloric stenosis, Chronic diarrhea, Submucous cleft hard palate, High palate... ORPHA:457279
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Feeding difficulties, Esophagitis, Hepatic failure, Hydronephrosis ORPHA:541423
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Cellular urinary casts, D... ORPHA:509
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Chronic diarrhea OMIM:300953
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Intestinal perforation, Hematemesis, Abno... ORPHA:464321
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Skin rash, Abdominal pain, Hematemesis, Diarrhea... ORPHA:99829
8P23.1 Microdeletion Syndrome
Hypospadias, Obesity, Weight loss, High palate, Attention deficit hyperactivity disorder ORPHA:251071
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99413
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc... OMIM:601675
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:881
Polycythemia Vera
Gastrointestinal hemorrhage, Abdominal pain, Weight loss ORPHA:729
Sandhoff Disease
Macroglossia, Chronic diarrhea, Urinary incontinence, Episodic abdominal pain OMIM:268800
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227990
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t... OMIM:256810
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... ORPHA:647
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative c... OMIM:617137
Dominant Beta-Thalassemia
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Chronic hepatitis, Hepatocellular c... ORPHA:231226
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic d... ORPHA:158668
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media OMIM:608710
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Failure to thrive, Skin rash, Protracted diarrhea ORPHA:331206
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Hypoplasia of penis, Cachexia, Aggressive behavior, Obesity, High palate ORPHA:85293
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failure to thrive ORPHA:79351
Mucopolysaccharidosis Type 3
Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Hypersexuality, Malabsorp... ORPHA:581
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, High, narrow p... OMIM:615873
Congenital Disorder Of Glycosylation, Type It
Chronic diarrhea, Hepatitis, Cleft palate, Chronic hepatitis, Hydronephrosis, Vomiting, Recurrent... OMIM:614921
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu... ORPHA:227982
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Leukocyte Adhesion Deficiency Type Ii
Recurrent urinary tract infections, Severe periodontitis, Small for gestational age, Protruding t... ORPHA:99843
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczema OMIM:617827
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Acute pancreatitis, Proteinuria, Anorexia, Abdominal pain, Erythema nodosum,... ORPHA:99827
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Weill-Marchesani Syndrome 1
Thin bony cortex, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly OMIM:277600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Long fingers, Osteoporosis, Long hallux, Thin bony cortex OMIM:309583
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Deeah Syndrome
Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Mic... OMIM:619004
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... ORPHA:2020
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis ORPHA:79139
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss OMIM:607459
9Q33.3Q34.11 Microdeletion Syndrome
Abnormality of the kidney, Constipation, Esophagitis, Dysphagia, Micropenis ORPHA:495818
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ketonuria, Abdominal pain, Myocarditis, Diarrhea, Vomiting, Gly... ORPHA:466677
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Steatorrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High ... OMIM:618268
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy,... ORPHA:247598
Alg9-Cdg
Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Diarrhea, Bifid uvula, Vomiting,... ORPHA:79328
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Short metatarsal, Short finger, Broad phalanges of the hand, ... OMIM:608328
Trichohepatoenteric Syndrome 1
Villous atrophy, Small for gestational age, Hypospadias, Galactosuria, Hepatic failure, Intractab... OMIM:222470
Dubowitz Syndrome
Hyperactivity, Hypospadias, Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency... OMIM:223370
Farber Disease
Failure to thrive, Chronic diarrhea, Feeding difficulties, Arthritis, Hepatic failure ORPHA:333
Beta-Thalassemia Major
Hepatocellular carcinoma, Diarrhea, Failure to thrive in infancy, Feeding difficulties ORPHA:231214
Aspartylglucosaminuria
Splenomegaly, Abnormal cortical bone morphology, Aspartylglucosaminuria, Abnormal morphology of ulna ORPHA:93
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... ORPHA:324625
Mowat-Wilson Syndrome
Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Vesicoureteral r... ORPHA:2152
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Aganglionic me... ORPHA:84
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia OMIM:610965
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea, Bronchiectasis OMIM:616005
African Trypanosomiasis
Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Keratitis, Myocardi... ORPHA:3385
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Acute Liver Failure
Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Agitation, Vomiting, Acute kidney in... ORPHA:90062
Ectodermal Dysplasia And Immunodeficiency 2
Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract OMIM:612132
Dubowitz Syndrome
Anal stenosis, Hypospadias, Eczema, Malabsorption, Rectal prolapse, Chronic diarrhea, Submucous c... ORPHA:235
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ... ORPHA:79078
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity ORPHA:70591
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... ORPHA:109
Oculopharyngodistal Myopathy 1
High palate, Dysphagia, Weight loss OMIM:164310
Ogden Syndrome
Global glomerulosclerosis, Eczema, Diarrhea, Narrow palate, Feeding difficulties, Vomiting, High ... OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria OMIM:124000
Diamond-Blackfan Anemia 21
Chronic diarrhea, Obesity OMIM:620072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Feeding difficulties OMIM:618278
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Weight loss... ORPHA:50918
Trisomy 18
Cachexia, Abnormality of the upper urinary tract, Esophageal atresia, Cleft palate, Narrow palate... ORPHA:3380
Hurler Syndrome
Chronic diarrhea, Feeding difficulties, Macroglossia, Rhinitis, Mucopolysacchariduria ORPHA:93473
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft pala... ORPHA:800
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Mucolipidosis Type Ii
Protuberant abdomen, Gastrostomy tube feeding in infancy, Otitis media, Weight loss ORPHA:576
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Aggressive behavior, Abnormality of the tongue muscle, Nasogastric... ORPHA:273
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Abetalipoproteinemia
Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorrhea, Fat malabsorption, Failure t... ORPHA:14
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Malignant gastrointestinal tract tumors, Acne, Neoplasm of the ... ORPHA:99889
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Hypospadias, Weight loss OMIM:613673
Camurati-Engelmann Disease
Cachexia, Anorexia, Feeding difficulties in infancy, Urinary retention, Slender build ORPHA:1328
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis,... ORPHA:198
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Small for gestational age, Intestinal malrotation, Feeding difficulties, In... ORPHA:2255
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Bronchiectasis, Weight loss ORPHA:60025
Dermatomyositis
Pericarditis, Feeding difficulties in infancy, Myocarditis, Gastrointestinal stroma tumor, Weight... ORPHA:221
Ataxia-Telangiectasia
Sinusitis, Chronic diarrhea, Failure to thrive, Bronchiectasis OMIM:208900
Immunodeficiency 47
Chronic diarrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:300972
Nmda Receptor Encephalitis
Hypersexuality, Diarrhea, Agitation, Vomiting, Abnormal repetitive mannerisms ORPHA:217253
Poems Syndrome
Weight loss ORPHA:2905
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Chronic diarrhea, Macroglossia, Abnormal temper ... ORPHA:580
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticulum, High palate, Hydrone... OMIM:304150
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Vomiting, Weight loss ORPHA:91347
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Gastroparesis, Bilateral renal dysplasia, Unilateral renal agenesis... ORPHA:500150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Abnormal temper tantrums, Bacter... ORPHA:2072
Stickler Syndrome
Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala... ORPHA:828
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Familial Thrombocytosis
Weight loss ORPHA:71493
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:909
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Attention deficit hyperactivit... ORPHA:558
Seckel Syndrome
Cachexia ORPHA:808
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Macrog... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Macrog... ORPHA:217093
Aspartylglucosaminuria
Macroglossia, Diarrhea, Aspartylglucosaminuria, Acne OMIM:208400
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia ORPHA:740
Norrie Disease
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... ORPHA:649
Proteus Syndrome
Cachexia, Long penis, Renal cyst ORPHA:744
Tropical Endomyocardial Fibrosis
Malnutrition, Cachexia ORPHA:75565

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 Trpv5

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 Trpv5.

No publications found that use IMPC mice or data for Trpv5.

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