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Gene: Aqp3 MGI:1333777

Gene Summary

Name:

aquaporin 3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating total protein level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	3.45×10^-08
increased circulating calcium level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	9.40×10^-05
increased circulating HDL cholesterol level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	1.22×10^-05
increased circulating serum albumin level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	1.23×10^-06
increased circulating creatinine level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	3.22×10^-06
increased blood urea nitrogen level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	1.88×10^-11
increased circulating cholesterol level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	4.39×10^-05
increased circulating alkaline phosphatase level	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	8.14×10^-15
increased lean body mass	Aqp3^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	2.06×10^-05

Download data as: TSV XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Lung	N/A	heterozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	Not available
Skin	N/A	heterozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Aqp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aqp3 (0 diseases)
Human diseases predicted to be associated with Aqp3 (778 diseases)

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

The table below shows human diseases predicted to be associated to Aqp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l...	OMIM:619468
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria	OMIM:222100
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Adamantinoma	Hypercalcemia	ORPHA:55881
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Hyperaldosteronism, Polyuria	OMIM:613677
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ...	OMIM:618314
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss	ORPHA:29073
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul...	ORPHA:320
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hyperaldosteronism, Abnormal...	ORPHA:199343
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Central Diabetes Insipidus	Polydipsia, Nocturia, Anorexia	ORPHA:178029
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymphadenopathy, Weight loss, Inflam...	ORPHA:26790
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Hypocalciuria, Renal so...	OMIM:612780
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Failure to thrive	ORPHA:79301
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria	OMIM:304800
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips...	ORPHA:213
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Colitis	OMIM:619164
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Rhabdoid Tumor	Hypercalcemia, Weight loss	ORPHA:69077
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee...	OMIM:306900
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdomina...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdomina...	ORPHA:100082
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Minimal change glome...	ORPHA:567548
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Dexamethasone-suppressible pri...	ORPHA:251274
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Diar...	ORPHA:2070
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea	OMIM:615767
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Folliculitis, Inflamm...	OMIM:300635
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia	ORPHA:172
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive	OMIM:613845
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia, Cystinuria	ORPHA:163693
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,...	ORPHA:853
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia	OMIM:239200
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Increased urinary potassium	ORPHA:231580
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi...	ORPHA:85446
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Obesity	ORPHA:77296
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochez...	OMIM:617718
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration	ORPHA:275555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Elevated circulating creatinine concentration	OMIM:616733
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ...	ORPHA:169805
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, ...	ORPHA:99745
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm...	ORPHA:424019
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Cervic...	OMIM:142680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R...	OMIM:263800
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Nephrolith...	ORPHA:369929
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ...	ORPHA:329971
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Galactokinase Deficiency	Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole...	ORPHA:79237
Alg6-Cdg	Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97289
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Hepatosplenomegaly, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Linear Iga Dermatosis	Inflammation of the large intestine, Epistaxis	ORPHA:46488
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Splenom...	OMIM:616050
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole...	OMIM:616222
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Hypophosphatasia, Infantile	Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo...	ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Colitis, Recurrent sinusitis	OMIM:613101
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,...	ORPHA:79319
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Peritonitis, Vascu...	ORPHA:343
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Hyp...	ORPHA:199299
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy...	OMIM:263300
Familial Hyperaldosteronism Type I	Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Oculoskeletodental Syndrome	Hypercalcemia, Small for gestational age, Hypocalcemia	OMIM:618440
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me...	ORPHA:99147
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody...	OMIM:614602
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Bone ...	OMIM:617341
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa...	ORPHA:2137
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc...	ORPHA:95409
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs...	ORPHA:85450
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Splenomegaly, Mediastinal lymphaden...	ORPHA:91138
Immunodeficiency 70	Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia	OMIM:618969
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Hypersplenism, Ma...	ORPHA:98850
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Microscopic Polyangiitis	Nausea and vomiting, Episcleritis, Gastrointestinal hemorrhage, Sinusitis, Increased inflammatory...	ORPHA:727
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5...	OMIM:219800
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Anterior uveitis, Colitis, Skin rash	OMIM:616744
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Failure to thrive, Hematochezia, Prolonged prothrombin time, Fat malabsorpt...	OMIM:214950
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia	OMIM:608104
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged pro...	OMIM:613812
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi...	ORPHA:732
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity	ORPHA:96184
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Splenomegaly, Lymphadenitis, Chronic diarrhea, Dilated cardiomyopathy, Co...	OMIM:615895
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor...	ORPHA:319218
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Omenn Syndrome	Failure to thrive, Hypoproteinemia	OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Pneumonia, Erythema nodosum, Sp...	OMIM:614700
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Monosomy 13Q34	Hypercalcemia, Obesity	ORPHA:96168
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, L...	ORPHA:79456
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Splenomega...	ORPHA:1414
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Immunodeficiency 32B	Failure to thrive, Hypoalbuminemia	OMIM:226990
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Abdominal pain, Malabsorption, Spl...	ORPHA:3452
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:187900
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:99880
Leptospirosis	Hyperproteinemia	ORPHA:509
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastriti...	ORPHA:809
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:143
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis, Bone marrow hypocellularity	OMIM:615190
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdomina...	ORPHA:100080
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus	ORPHA:1059
Johanson-Blizzard Syndrome	Failure to thrive, Hypoproteinemia	ORPHA:2315
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc...	ORPHA:85138
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarrhea, Lymphocyt...	ORPHA:436159
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Panhypophysitis	Decreased circulating cortisol level, Hyposthenuria, Polydipsia	ORPHA:95513
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Hypoplas...	ORPHA:906
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia, Cystinuria	OMIM:606407
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C...	OMIM:618999
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C...	ORPHA:810
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,...	ORPHA:679
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Pheochromocytoma	Hypercalcemia	OMIM:171300
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia	ORPHA:476126
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:612462
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Transient ischemi...	ORPHA:774
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Splenomegaly,...	ORPHA:64743
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia	ORPHA:525731
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly...	ORPHA:3463
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Xanthelasma, Polydipsia, Hydronephrosis	ORPHA:35687
Neuroendocrine Tumor Of Stomach	Poor appetite, Anorexia, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Tricu...	ORPHA:100075
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co...	OMIM:301074
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight	ORPHA:1667
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren...	OMIM:618935
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen...	OMIM:603909
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Cervical lymphadenopathy,...	ORPHA:2686
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit...	OMIM:620133
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ...	ORPHA:358
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Splenomegaly, Mediastinal lymphadenopathy, Dia...	OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ...	ORPHA:98813
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Hypoalbuminemia	OMIM:617021
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ...	ORPHA:324964
Igg4-Related Retroperitoneal Fibrosis	Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote...	ORPHA:49041
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Colitis, Decreased liver funct...	ORPHA:540
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D...	ORPHA:67
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Splenomegaly, Diarrhea, Vasculit...	ORPHA:33226
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy...	ORPHA:85443
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Obesity	ORPHA:69663
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia	ORPHA:249
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures	OMIM:264700
Behçet Disease	Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd...	ORPHA:117
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto...	ORPHA:93672
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp...	OMIM:619055
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Small for gestational age, Splenomegaly, Gastrointestinal dysmoti...	ORPHA:90051
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Hypoalbuminemia	ORPHA:367
Lynch Syndrome	Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorp...	ORPHA:144
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease...	ORPHA:731
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Ppoma	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97278
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper...	ORPHA:90674
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hypoalbuminemia,...	OMIM:251880
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Weight loss	ORPHA:47
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Somatostatinoma	Increased circulating cortisol level, Weight loss, Hypercalcemia, Steatorrhea	ORPHA:97283
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Cockayne Syndrome Type 1	Failure to thrive, Increased blood urea nitrogen	ORPHA:90321
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Hyperlipoproteinemia, Type Id	Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Familial Colorectal Cancer Type X	Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Hepatocellular c...	ORPHA:440437
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste...	ORPHA:363705
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Vipoma	Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97282
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Chilblains, Pneumonia, Hematemesis, S...	OMIM:615846
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia	OMIM:602361
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl...	ORPHA:424016
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Polydipsia, Long penis	ORPHA:769
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In...	ORPHA:3260
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an...	ORPHA:900
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis	OMIM:301220
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circula...	ORPHA:89842
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures	ORPHA:289157
Grfoma	Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:97261
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas...	ORPHA:758
Glucagonoma	Increased circulating cortisol level, Weight loss, Hypercalcemia, Steatorrhea	ORPHA:97280
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia	OMIM:618329
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe...	ORPHA:90068
Immunoglobulin A Vasculitis	Nausea and vomiting, Episcleritis, Gastrointestinal hemorrhage, Skin rash, Anorexia, Abdominal pa...	ORPHA:761
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Hyperlipidemia, Self-injurious behavior, Enuresis, Compulsive behaviors, Pol...	ORPHA:293987
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Giant cell hepatitis	ORPHA:79095
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Failure to thrive, Splenomegaly, Paralytic il...	OMIM:276700
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia	OMIM:127000
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Myocardial infarction, A...	ORPHA:36426
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hypocalcemia	OMIM:259700
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Splenomegaly, Chronic diarrhea, Esophageal varix, Inflammation of the large in...	OMIM:614576
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatitis, Malabsorpt...	ORPHA:2796
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast...	OMIM:201475
20Q13.33 Microdeletion Syndrome	Hematochezia, Small for gestational age, Failure to thrive in infancy	ORPHA:261311
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l...	ORPHA:247691
Plague	Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o...	ORPHA:707
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	ORPHA:14
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi...	ORPHA:974
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia...	ORPHA:90038
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,...	ORPHA:309031
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Hypercalcemia	ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia	OMIM:212065
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypocalcemia	OMIM:607143
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai...	ORPHA:79430
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia	ORPHA:514
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Failure to thrive, Epistaxis, Diarrhea, Prolonged bleeding following procedure...	ORPHA:79259
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive, Hypocalcemia, Steatorrhea	OMIM:212750
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hypoalbuminemia, Weight loss	OMIM:619487
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,...	ORPHA:29207
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Aminoaciduria, Hypokalemia, Hypocalcemia	OMIM:617913
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Eczema, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pn...	OMIM:301000
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Alg12-Cdg	Hyponatremia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Pseudohypoparathyroidism Type 1C	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Obesity	OMIM:103580
Pai Syndrome	Nasal polyposis, Depressed nasal bridge, Midline defect of the nose	ORPHA:1993
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,...	ORPHA:99827
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr...	OMIM:619575
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Hypotriglyceri...	ORPHA:2298
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Aminoaciduria, Hypoalbuminemia, ...	OMIM:277900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality...	OMIM:222470
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis	OMIM:155145
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Gastritis, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyperspl...	ORPHA:3261
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add...	ORPHA:31826
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia, Weight loss	ORPHA:652
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Diarrhea...	ORPHA:391487
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Polyuria, Dysphagia	OMIM:606721
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti...	ORPHA:340
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Syndromic Diarrhea	Aortic regurgitation, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Sple...	ORPHA:84064
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of...	ORPHA:171
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ...	ORPHA:70591
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ...	ORPHA:99867
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia	OMIM:251300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pa...	ORPHA:544482
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Hypoalbuminemia	ORPHA:79396
22Q11.2 Deletion Syndrome	Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal re...	ORPHA:567
Reynolds Syndrome	Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Raynaud phenomenon, Lip telangiectas...	OMIM:613471
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol...	ORPHA:3243
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis	OMIM:616037
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Williams Syndrome	Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinase concentration, ...	ORPHA:904
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Aminoaciduria, Hyperaldosteronism, Hypophosphatemia, Hy...	ORPHA:534
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failur...	OMIM:613658
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Immunodeficiency 87 And Autoimmunity	Villous atrophy, Necrotizing enterocolitis, Atrophic gastritis, Small for gestational age, Cervic...	OMIM:619573
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria	ORPHA:159
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi...	OMIM:175200
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult...	ORPHA:565
Glycogen Storage Disease Ib	Splenomegaly, Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen, Hepat...	OMIM:232220
Sarcoidosis	Hypercalcemia, Weight loss	ORPHA:797
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Acute Liver Failure	Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani...	ORPHA:90062
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Goodpasture Syndrome	Weight loss, Increased blood urea nitrogen	OMIM:233450
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea	OMIM:229600
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, Iridocyclitis, ...	OMIM:181000
Williams-Beuren Syndrome	Failure to thrive in infancy, Hypercalcemia, Obesity	OMIM:194050
Pearson Syndrome	Small for gestational age, Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatem...	ORPHA:699
Congenital Dyserythropoietic Anemia Type Iii	Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding	ORPHA:98870
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia	ORPHA:319213
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Failure to thrive, Elevated circulating creatine kinase concentration	ORPHA:2785
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru...	OMIM:225400
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hyperspl...	ORPHA:480520
Glycogen Storage Disease Ic	Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg...	OMIM:232240
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Cartilage-Hair Hypoplasia	Failure to thrive, Hypocalcemia	ORPHA:175
Rift Valley Fever	Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Mele...	ORPHA:319251
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abdominal pain, Lymphadenopathy	ORPHA:538
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Fumarase Deficiency	Failure to thrive, Necrotizing enterocolitis, Hepatic failure, High palate	OMIM:606812
Hardikar Syndrome	Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Hepatosplenomegaly...	OMIM:301068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Hypertension	OMIM:263200
Smith-Lemli-Opitz Syndrome	Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo...	OMIM:270400
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton...	OMIM:158310
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Sotos Syndrome	Hypercalcemia	ORPHA:821
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Failure to thrive	ORPHA:83471
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast...	ORPHA:508488
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion	ORPHA:289176
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Lipoid Proteinosis	Nasal polyposis	ORPHA:530
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestinal telang...	OMIM:612199
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala...	ORPHA:261584
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,...	ORPHA:881
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Cachexia	ORPHA:75565
Primary Ciliary Dyskinesia	Nasal congestion, Nasal polyposis, Chronic rhinitis	ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypocalcemia, Hypomagnesemia	OMIM:619503
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Digeorge Syndrome	Hypocalcemia, Obesity	OMIM:188400
Johanson-Blizzard Syndrome	Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi...	OMIM:243800
Mowat-Wilson Syndrome	Decreased body weight, Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gas...	ORPHA:2152
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis	ORPHA:183
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Charge Syndrome	Hypocalcemia	OMIM:214800
Pmm2-Cdg	Reduced thyroxin-binding globulin, Failure to thrive, Hypoalbuminemia	ORPHA:79318
Benign Schwannoma	Nasal polyposis	ORPHA:252164
Cystic Fibrosis	Nasal polyposis	OMIM:219700
Cystic Fibrosis	Nasal polyposis	ORPHA:586

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 Aqp3

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 Aqp3.

No publications found that use IMPC mice or data for Aqp3.

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MGI Allele	Allele Type	Produced
Aqp3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Aqp3^{tm2b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Aqp3^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aqp3^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Aqp3^{tm213839(pL1L2_GT0_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aqp3 MGI:1333777

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Embryo LacZ

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Aqp3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data