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Gene: Ulk3 MGI:1918992

Gene Summary

Name:

unc-51-like kinase 3

Synonyms:

1200015E14Rik

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
abnormal epididymis morphology	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
increased circulating sodium level	Ulk3^em2(IMPC)Tcp	HOM	Early adult	2.22×10^-07
enlarged prostate gland	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
increased circulating cholesterol level	Ulk3^em2(IMPC)Tcp	HOM	Late adult	8.03×10^-05
abnormal lymph node morphology	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal spleen morphology	Ulk3^em2(IMPC)Tcp	HOM	Early adult	0.00
increased circulating creatinine level	Ulk3^em2(IMPC)Tcp	HOM	Late adult	4.32×10^-05
enlarged urinary bladder	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
enlarged lymph nodes	Ulk3^em2(IMPC)Tcp	HOM	Early adult	0.00
enlarged lymph nodes	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
small testis	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
abnormal uterus morphology	Ulk3^em2(IMPC)Tcp	HOM	Late adult	0.00
decreased circulating serum albumin level	Ulk3^em2(IMPC)Tcp	HOM	Early adult	6.10×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Histopathology

Images

22 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

77 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Ulk3 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 Ulk3 (0 diseases)
Human diseases predicted to be associated with Ulk3 (692 diseases)

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

The table below shows human diseases predicted to be associated to Ulk3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total...	OMIM:619868
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis	OMIM:620357
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest...	OMIM:615703
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isoform...	OMIM:613752
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Chronic Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly	OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Lymphadeno...	OMIM:267700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	OMIM:308240
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp...	OMIM:616050
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Abnormality of the ovary, Hyperuricemia	ORPHA:543
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h...	OMIM:617872
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to...	OMIM:618528
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary ameno...	OMIM:612526
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low ...	OMIM:615751
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive prot...	ORPHA:158061
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta...	OMIM:161900
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in...	ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, An...	OMIM:603553
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:619013
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:618805
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Adrenal calcification, Hypercholesterolemia	ORPHA:75234
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concen...	OMIM:616828
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le...	ORPHA:94093
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ...	OMIM:610644
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ...	ORPHA:100083
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,...	OMIM:620211
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:610600
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C...	ORPHA:90362
Immunodeficiency 43	B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin...	OMIM:241600
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:203400
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr...	ORPHA:3008
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Decreased testicular size, Precocious...	OMIM:616222
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Hepatomegaly, Precocious puberty in...	ORPHA:528
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Jaundice, Hepatomegaly, Lymphadenopathy, Hemopha...	ORPHA:540
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Increased circulating renin level, Hyponatremia	ORPHA:171876
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Kerion Celsi	Lymphadenopathy	ORPHA:499
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis	OMIM:602579
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology, ...	ORPHA:54251
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Laron Syndrome	Delayed puberty, Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis	ORPHA:633
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentra...	OMIM:242150
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy	OMIM:313200
Nephrogenic Diabetes Insipidus	Hypernatremia	ORPHA:223
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Portal hypertension	ORPHA:79319
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoa...	OMIM:226300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Portal hypertension, Hepatocellu...	OMIM:251880
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Elevated cir...	OMIM:614817
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:177735
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen...	OMIM:615517
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Eos...	ORPHA:2070
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556037
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Granulomatous Slack Skin	Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury	ORPHA:33111
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:608971
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Elevated circulating...	ORPHA:567544
Preeclampsia	Acute kidney injury, Type I diabetes mellitus, Proteinuria, Chronic kidney disease, Elevated circ...	ORPHA:275555
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly	OMIM:608776
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Congenital Isolated Acth Deficiency	Hyponatremia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,...	OMIM:613845
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati...	ORPHA:247585
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creati...	OMIM:608104
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Azoospermia, Impotence, Increased cir...	OMIM:235200
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia	OMIM:620423
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Decreased numbers of nephrons, Epididymal cyst, Stage 5 chronic kidney dise...	OMIM:137920
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom...	ORPHA:97290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni...	OMIM:617021
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:556030
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism, Hypercholesterolemia	ORPHA:96184
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia	ORPHA:367
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating ferritin...	OMIM:603552
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Hyper...	OMIM:613070
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Hyponatremia, Splenomegaly,...	ORPHA:549
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hyperammonemia, Leukopenia, Th...	ORPHA:292
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:100025
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia	ORPHA:682
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal in...	OMIM:619468
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va...	OMIM:158330
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Jaundice, Intrahepatic cholestasis, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru...	OMIM:617093
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Mediastinal lymphadenopathy, Ovarian neoplasm, Lymphadenopathy, Hepatom...	ORPHA:83469
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatomegaly, Renal tubular acidosis, Myoglobinuria, Elevated circulating c...	ORPHA:79240
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Increased circulating fe...	OMIM:613101
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Reduced proportion of CD4-n...	ORPHA:37042
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Steatorrhea, Increas...	OMIM:278000
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent ...	OMIM:602450
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
C3 Glomerulopathy	Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Membrano...	ORPHA:329918
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatomegaly, Renal tubular acidosis, Myoglobinuria, Eleva...	ORPHA:264580
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Elevated circu...	OMIM:614376
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Porphyria Due To Ala Dehydratase Deficiency	Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro...	ORPHA:100924
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma	ORPHA:79273
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellularity, Leukopenia, ...	OMIM:617303
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Abnormality of the endocrine system, Hypothyroidism, Abnormality of the thyroid gl...	ORPHA:77296
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, L...	OMIM:616733
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:214700
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u...	ORPHA:432
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive prote...	OMIM:615559
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Stage 3 chronic kidney disease, Hype...	OMIM:620366
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci...	ORPHA:186
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia	OMIM:617053
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Elevat...	ORPHA:49041
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Trichohepatoenteric Syndrome 1	Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ...	OMIM:222470
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothyroidism, Incr...	ORPHA:90674
Cog4-Cdg	Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort...	OMIM:602088
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemi...	OMIM:619487
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Nephropathy	ORPHA:100024
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Ext...	OMIM:176270
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Hypertyrosinemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Chol...	OMIM:617156
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency	ORPHA:54057
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Whipple Disease	Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Hyponatremia, Splenomegaly	ORPHA:3452
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Proteinuria, Micropenis, Male hypogonadism, Hypercholesterolemia	OMIM:619471
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Abnormality of the ureter, Precocious puberty, Hypothyroid...	ORPHA:819
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:167
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Erectile dysfuncti...	ORPHA:465508
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Ty...	OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Increased serum bile acid concentration, Bile duct proliferation, Elevated circulat...	OMIM:619662
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E...	ORPHA:36234
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:603776
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly...	OMIM:235510
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Liver abscess, Anemia, Leukocytosis	ORPHA:67
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612925
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the thyroid gland	OMIM:182290
Familial Hypoaldosteronism	Hyperkalemia, Hyponatremia, Increased circulating renin level	ORPHA:427
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ...	OMIM:614034
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease...	ORPHA:470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Multiple renal cysts, Elevated circulatin...	OMIM:613095
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis	OMIM:179830
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Adrenal insuffic...	OMIM:609981
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Decreased circulating ceruloplasmin concentration, Hepatome...	OMIM:277900
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Hypotriglyceridemia, Hy...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis	OMIM:618329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ...	ORPHA:89842
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Decreased circulating iron concentration	OMIM:212050
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Shigellosis	Splenic abscess, Cholestasis, Leukocytosis, Hyponatremia, Thrombocytopenia, Peritonitis, Microang...	ORPHA:810
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Porphyria Variegata	Anemia, Hepatocellular carcinoma, Hyponatremia, Abnormal circulating porphyrin concentration, Abn...	ORPHA:79473
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma...	ORPHA:85443
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Igg4-Related Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu...	ORPHA:449395
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:79126
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Jaundice, Anemia, Vacuolated lymphocytes, Microvesicular hepa...	ORPHA:275761
Lig4 Syndrome	Hepatomegaly, Lymphadenopathy, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cr...	ORPHA:99812
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Distal renal tubular acidosis, Hematuria, Aplasia of the vagina, Aplasia of t...	OMIM:146255
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Testicular atrophy	OMIM:613987
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism	ORPHA:353298
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:240500
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas...	ORPHA:412
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad...	OMIM:620514
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega...	OMIM:210250
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:613090
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Hepatic ste...	OMIM:212065
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:618348
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ...	ORPHA:209902
Renal Hypoplasia, Bilateral	Hyperkalemia, Hyponatremia, Anemia	ORPHA:97362
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Xanthelasma, Hyperuricemia,...	ORPHA:79259
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu...	OMIM:174000
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, D...	ORPHA:3109
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Autosomal Recessive Polycystic Kidney Disease	Jaundice, Increased serum bile acid concentration, Cholangitis, Periportal fibrosis, Cholestasis,...	ORPHA:731
Multiple Myeloma	Acute kidney injury, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hyperprote...	ORPHA:29073
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia, H...	ORPHA:199299
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Hype...	ORPHA:99826
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypothyroidism, Hepatospl...	OMIM:619750
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:858
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Glomerular sclerosis, Hyperlipidemia, Proteinuria, Chronic kid...	ORPHA:439232
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ...	ORPHA:91547
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Hypoalbumi...	ORPHA:505248
H Syndrome	Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Hypotriglyceridemia, Decreased ser...	OMIM:618885
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Thyroiditis, Splenomegaly, Glomerulonephritis	OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia, Hypouricemi...	ORPHA:411634
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Schnitzler Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:37748
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Lesch-Nyhan Syndrome	Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy	OMIM:300322
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hypercholesterolemia, Hypothyroidism, Left ventricular hypertrophy	ORPHA:90065
Amed Syndrome, Digenic	Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus	OMIM:619151
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating trans...	ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr...	OMIM:235400
Satoyoshi Syndrome	Mildly elevated creatine kinase, Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hyperinsulinemia, Increased circulating free fatty acid level, Hypercholest...	ORPHA:2457
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hypercholesterolemia	OMIM:620454
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia	ORPHA:90791
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Infant Botulism	Hyponatremia	ORPHA:178478
Sickle Cell Anemia	Cholelithiasis, Splenic infarction, Unconjugated hyperbilirubinemia, Priapism, Abnormality of the...	ORPHA:232
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:607115
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Elevated circulating C-reactive protein...	OMIM:619644
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc...	ORPHA:2331
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Leukopenia, Thr...	ORPHA:2298
Rhabdoid Tumor	Hematuria, Hypercalcemia, Lymphadenopathy	ORPHA:69077
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel...	OMIM:222300
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria	ORPHA:90060
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia, Jaundice	ORPHA:90790
Medullary Thyroid Carcinoma	Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin c...	ORPHA:1332
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Portal hypertension, Unconjugated hyp...	OMIM:613658
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal urinary color	ORPHA:56425
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia	ORPHA:361
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El...	OMIM:266900
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ...	ORPHA:542323
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:618495
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hepatomegaly	OMIM:610505
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Increased blood urea nitrogen, Microscopic hematuria, Abnormal renal p...	OMIM:274150
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Indolent Systemic Mastocytosis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:98848
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Type II diab...	OMIM:615812
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa...	ORPHA:100093
Griscelli Syndrome	Abnormal circulating lipid concentration, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellular...	ORPHA:381
Adenohypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95512
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, He...	OMIM:619991
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Retrograde ejaculation, Increased blood urea nitrogen, Elevated urinary dopamin...	ORPHA:230
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary...	ORPHA:247768
Omenn Syndrome	Hepatomegaly, Lymphadenopathy, Hypoproteinemia, Hypoplasia of the thymus, Splenomegaly	OMIM:603554
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Panhypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95513
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Decreased circu...	OMIM:219800
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Tafro Syndrome	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplen...	ORPHA:457077
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology	ORPHA:1764
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Splenomegaly	OMIM:614470
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Oligomeganephronia	Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary pyramid morph...	ORPHA:2260
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Multiple ren...	OMIM:193300
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia	ORPHA:293978
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:615387
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Hypercholesterolemia, Cholelithiasis	ORPHA:69663
Pituitary Apoplexy	Hyponatremia, Normochromic anemia	ORPHA:95613
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Generalized lymphadenopathy, Elevated cir...	ORPHA:829
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Orchitis, Abnormality ...	ORPHA:556
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc...	ORPHA:534
Lymphoproliferative Syndrome 1	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:613011
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy, Proteinuria	ORPHA:69126
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Proteinuria, Elevated circulating creatinine concentration, Nephropathy, Co...	ORPHA:247691
Castleman Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	ORPHA:160
Roifman Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomeg...	OMIM:619802
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Nephrotic syndrome, Nephrit...	OMIM:603909
Seckel Syndrome 7	Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal...	ORPHA:90041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys...	OMIM:223900
Neuhauser Syndrome	Primary hypothyroidism, Hypercholesterolemia	OMIM:249310
Japanese Encephalitis	Hyponatremia, Neutrophilia	ORPHA:79139
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Refractory anemia, Anemia	ORPHA:79076
Immunodeficiency 47	Hepatomegaly, Decreased circulating copper concentration, Accessory spleen, Splenomegaly, Hyperch...	OMIM:300972
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Bartter Syndrome Type 4	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia	ORPHA:89938
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Stage 5 chronic kidney disease, Low-molecular-weight proteinuria, Renal insuffici...	OMIM:309000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic...	ORPHA:544482
Acute Intermittent Porphyria	Hyponatremia, Hepatocellular carcinoma	ORPHA:79276
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3226
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia	OMIM:602522
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Hemolytic-uremic syndrome, Proteinuria, Moderate proteinuria, Elevated...	OMIM:301110
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:618048
Omenn Syndrome	Hepatomegaly, Lymphadenopathy, Thyroiditis, Hypothyroidism, Nephrotic syndrome, Splenomegaly	ORPHA:39041
Holoprosencephaly	Hyponatremia, Abnormality of the spleen	ORPHA:2162
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating 7-dehydrocholesterol con...	OMIM:270400
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Boutonneuse Fever	Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy	ORPHA:83313
Sheehan Syndrome	Hyponatremia, Normochromic anemia	ORPHA:91355
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia	OMIM:601859
Cinca Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:1451
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor...	ORPHA:273
Meckel Syndrome 12	Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia	OMIM:616258
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hypoplastic spleen, Hy...	OMIM:601186
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Sézary Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Insulin-resista...	OMIM:248370
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Nephrotic syndrome, Hepatosplenomegaly, Sp...	OMIM:618935
Niemann-Pick Disease, Type A	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:257200
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ...	OMIM:614527
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly, Pancreatic adenocarcinoma, Ovarian carcinoma, Diabetes mellitus	ORPHA:1333
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp...	ORPHA:449432
Primary Myelofibrosis	Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Nephroblastoma	Hematuria, Lymphadenopathy	ORPHA:654
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ...	ORPHA:93126
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Renal angiomyolipoma, Multiple r...	ORPHA:538
Pagod Syndrome	Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Abnormality ...	ORPHA:991
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Intrahepatic bile duct dilatation, Cholest...	OMIM:619534
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration,...	OMIM:610377
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Hypoproteinemia, Vesicoureteral reflux, Lymphadenitis, Elevated ci...	OMIM:615895
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulat...	ORPHA:97287
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:617591
Pancreatoblastoma	Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Type I diabetes mellitus	OMIM:301078
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Splenomegaly, Proteinuria, Renal insufficiency	ORPHA:36412
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Immunodeficiency 10	Nephrotic syndrome, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:612783
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Hepatomegaly, Abnormality of the spleen	ORPHA:79456
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine tumor, Adren...	ORPHA:892
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616100
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi...	ORPHA:340
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Lymphadenopathy, Thyroiditis, Splenomegaly, Type I diabetes mellitus	ORPHA:436159
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur...	ORPHA:653
Tangier Disease	Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatospl...	ORPHA:31150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Lymphadenopathy, Thyroiditis, Hypothyroidism, Enlarged tonsils, Hepatosplenomegaly, Type I diabet...	OMIM:606367
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia	OMIM:619879
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hypothyroidism, Type I diabetes mellitus, Lymphadenopathy, Glomerulonephritis	OMIM:304790
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
Felty Syndrome	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:47612
Kikuchi-Fujimoto Disease	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating C-reactive pr...	ORPHA:50918
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypoplasia, ...	OMIM:614083
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Orchitis, Elevated circulating C-reactive protein concentration	ORPHA:32960
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Thyroiditis, Hypothyroidism, Splenomegaly, Type I diabetes mellitus, Generalized...	OMIM:614700
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, El...	ORPHA:635
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Alagille Syndrome 1	Hypertriglyceridemia, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosis, Papil...	OMIM:118450
Gamma-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:100026
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:609441
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:169090
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectious lymphad...	ORPHA:100079
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration, Hepatomegaly	ORPHA:97292
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Adrenal o...	ORPHA:139411
Tropical Endomyocardial Fibrosis	Eosinophilia, Hypoalbuminemia, Hepatomegaly, Splenomegaly	ORPHA:75565
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Nephropathy	ORPHA:809
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Thyroiditis, Nephrotic syndrome, Renal insufficiency, Tubulointerstitial nephritis	ORPHA:139402
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100080
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Accessory spleen, Splenomegaly, Primary amen...	OMIM:619418
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Hypothyroidism, Hypocalcemic tetany, Aplasia of the thymus	ORPHA:83471
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Nephrotic syndrome, Nephritis, Dark urine, Proteinuria, Renal insuffi...	ORPHA:93552
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly, Hepatomegaly	OMIM:308230
Cutaneous Neuroendocrine Carcinoma	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In...	ORPHA:99889
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Oliguria, Cervical lymphadenopathy	ORPHA:514
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Acute Promyelocytic Leukemia	Metrorrhagia, Hematuria, Lymphadenopathy	ORPHA:520
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of...	ORPHA:228123
Familial Mediterranean Fever	Lymphadenopathy, Nephrotic syndrome, Nephrocalcinosis, Splenomegaly, Orchitis, Proteinuria, Nephr...	ORPHA:342
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop...	OMIM:110100
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Lymphadenopathy, Elevated circulating C-reactive protein c...	ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H...	OMIM:256040
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph ...	ORPHA:79124
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100082
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Hepatomegaly, Abnormal lymph node mo...	ORPHA:797
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l...	OMIM:260920
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy	ORPHA:3063
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hashimoto t...	OMIM:615688
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:233710
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Precocious puberty, Varicocele, Nephrocalci...	ORPHA:2044
Brucellosis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegal...	ORPHA:1304
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Nephrocalcinosis, Hydronephrosis, Congenital post...	OMIM:136140
Waldenström Macroglobulinemia	Lymphadenopathy, Hepatomegaly, Renal insufficiency, Splenomegaly	ORPHA:33226
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:233690
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617718
Immunodeficiency 31C	Delayed puberty, Hepatomegaly, Lymphadenopathy, Hypothyroidism, Splenomegaly, Diabetes mellitus	OMIM:614162
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiect...	ORPHA:2136
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the thyroid gland	ORPHA:52417
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus...	OMIM:236680
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia	OMIM:606721
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Elevated circulating C-r...	ORPHA:91500
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Hepatosplenomegaly, Pancreati...	OMIM:274000
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Premature ovarian insufficiency, Hepatomegaly, Lymphadenopathy, Thyroiditis, C...	ORPHA:3261
Chediak-Higashi Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:214500
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Hematuria, Lymphadenopathy, Parotitis, Inappropriate antidiuretic hormone secretion...	ORPHA:99827
Q Fever	Hepatomegaly, Hematuria, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Lymphadenopathy	ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98849
Spondyloenchondrodysplasia With Immune Dysregulation	Hypothyroidism, Tubulointerstitial fibrosis, Lymphadenopathy	OMIM:607944
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor...	ORPHA:79078
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:306400
Selective Igm Deficiency	Lymphadenitis, Hashimoto thyroiditis, Thyroid carcinoma, Lymphadenopathy	ORPHA:331235
Congenital Syphilis	Nephrotic syndrome, Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Primary Sjögren Syndrome	Vaginal dryness, Lymphadenopathy, Thyroiditis, Parotitis, Renal insufficiency, Tubulointerstitial...	ORPHA:289390
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Hydronephrosis, Splenomegaly, Ureteropelvic junction obstruct...	ORPHA:2729
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism	OMIM:194190
Behçet Disease	Lymphadenopathy, Splenomegaly, Renal insufficiency, Orchitis	ORPHA:117
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly	ORPHA:1572
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia	ORPHA:667
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hydronephrosis, Increased serum serotonin, Small intestine carcinoid	ORPHA:100078
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Renal hypo...	OMIM:135900
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Hepato...	OMIM:181000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
African Trypanosomiasis	Abnormality of renin-angiotensin system, Urinary incontinence, Hepatomegaly, Lymphadenopathy, Abn...	ORPHA:3385
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Renal artery stenosis	ORPHA:391665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Pmm2-Cdg	Abnormal liver parenchyma morphology, Reduced thyroxin-binding globulin, Impaired neutrophil chem...	ORPHA:79318
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism	OMIM:256520
Blau Syndrome	Abnormal salivary gland morphology, Lymphadenopathy, Splenomegaly, Stage 5 chronic kidney disease...	ORPHA:90340
Norrie Disease	Delayed puberty, Erectile dysfunction, Uterine rupture, Cryptorchidism, Diabetes mellitus	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Hypokalemia, Uterine prolapse, Renovascular hypertension, Bladder d...	ORPHA:286
Leptospirosis	Acute kidney injury, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Hyperproteinemia	ORPHA:509
Peters Plus Syndrome	Ureteral duplication, Hypospadias, Anterior hypopituitarism, Multicystic kidney dysplasia, Clitor...	ORPHA:709
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Proteinuria, Lupus nephritis	ORPHA:536
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, H...	OMIM:261540
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, S...	OMIM:601803
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016

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 Ulk3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ulk3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Ulk3^em2(IMPC)Tcp	PMC8163790

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MGI Allele	Allele Type	Produced
Ulk3^em2(IMPC)Tcp	Exon Deletion	Mice, Tissue

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: Ulk3 MGI:1918992

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

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Eye Morphology

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X-ray

Gross Pathology and Tissue Collection

Gross Pathology and Tissue Collection

Immunophenotyping

Eye Morphology

Immunophenotyping

Human diseases caused by Ulk3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data