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Gene: Btbd17 MGI:1919264

Gene Summary

Name:

BTB domain containing 17

Synonyms:

Tango10a, 1500005I02Rik

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
abnormal kidney morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult
enlarged spleen	Btbd17^em1(IMPC)Mbp	HOM	Late adult
abnormal epididymis morphology	Btbd17^em1(IMPC)Mbp	HOM	Early adult
enlarged epididymis	Btbd17^em1(IMPC)Mbp	HOM	Early adult
abnormal pancreas morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult
enlarged uterus	Btbd17^em1(IMPC)Mbp	HOM	Late adult
polycystic kidney	Btbd17^em1(IMPC)Mbp	HOM	Late adult
abnormal spleen morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult
abnormal ovary morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult
abnormal uterus morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult
abnormal thymus morphology	Btbd17^em1(IMPC)Mbp	HOM	Late adult

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Histopathology

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Human diseases caused by Btbd17 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 Btbd17 (0 diseases)
Human diseases predicted to be associated with Btbd17 (690 diseases)

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

The table below shows human diseases predicted to be associated to Btbd17 by phenotypic similarity.

Disease	Matching phenotypes	Source
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Recurrent pancreatiti...	OMIM:145001
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Renal cyst	OMIM:615987
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Porta...	OMIM:619902
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Rudiger Syndrome	Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus,...	ORPHA:2578
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Bardet-Biedl Syndrome 16	External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c...	OMIM:615993
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Bardet-Biedl Syndrome 4	Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism	OMIM:615982
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Bicornuate uterus, Periportal fibrosis	OMIM:263210
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne...	ORPHA:1988
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multiple...	OMIM:613095
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Ascites, Hepatomegaly, Splenomegaly	OMIM:608776
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis...	OMIM:236700
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma, Cryptorchidism	ORPHA:2849
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Ascites, Peritonitis, Gonadal calcifi...	ORPHA:314473
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number...	OMIM:137920
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Renal agenesis, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix mo...	ORPHA:3411
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Apla...	ORPHA:93111
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatit...	ORPHA:480520
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Caudal Duplication	Renal hypoplasia/aplasia, Ureteral duplication, Cryptorchidism, Uterus didelphys, Abnormal penis ...	ORPHA:1756
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Ovarian Fibrothecoma	Ovarian fibroma, Abnormality of the ovary, Ascites, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Isolated Polycystic Liver Disease	Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease	ORPHA:2924
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Hydronephros...	ORPHA:314588
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, Hepatic fibrosis	OMIM:614091
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Polyc...	OMIM:614866
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Rhyns Syndrome	Abnormality of the liver, Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
Branchiootorenal Syndrome 1	Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ...	OMIM:113650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology	ORPHA:145
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Meckel Syndrome 14	Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega...	OMIM:608836
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis	ORPHA:261290
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Acute pancreatitis, Hepatic peripor...	ORPHA:26791
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Absent nipple, Unicornuat...	OMIM:200980
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t...	ORPHA:1834
Bardet-Biedl Syndrome 6	Vaginal atresia, External genital hypoplasia, Hypospadias, Renal cyst	OMIM:605231
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Gonadal dysgenesis, male	OMIM:231060
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc...	OMIM:613390
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean pl...	ORPHA:84064
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Renal dysplasia	OMIM:191830
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R...	ORPHA:237
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Hypoplasia of penis	ORPHA:2491
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Neut...	OMIM:617056
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hydroureter, Abdominal mass, Hydronephrosis, Vaginal atresia, Hypogonadism, Cys...	OMIM:615989
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct...	OMIM:154230
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis	OMIM:263520
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hypopl...	OMIM:601186
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr...	ORPHA:261265
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Donnai-Barrow Syndrome	Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreat...	OMIM:311200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Distal Deletion 12Q	Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re...	ORPHA:96149
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Pheochromocytoma, Renal cell carcinoma, R...	ORPHA:805
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Meckel Syndrome, Type 6	Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic ...	OMIM:612284
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t...	OMIM:616258
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Renal Hypoplasia, Bilateral	Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re...	ORPHA:97362
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h...	OMIM:267010
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Ehlers-Danlos Syndrome, Classic-Like, 1	Vesicoureteral reflux, Unilateral renal agenesis, Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Bifid scrotum, ...	ORPHA:887
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cholelithiasis, Abnormality of the tonsils, Polycystic kidney dy...	ORPHA:567
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter...	ORPHA:2438
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Omodysplasia 2	Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis	OMIM:164745
Fryns Microphthalmia Syndrome	Unicornuate uterus	OMIM:600776
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Exstrophy-Epispadias Complex	Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen...	ORPHA:322
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem...	ORPHA:2973
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia	OMIM:606232
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:99880
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem...	ORPHA:231222
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphol...	ORPHA:449432
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph...	ORPHA:2075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephro...	ORPHA:143
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot...	OMIM:140000
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemi...	OMIM:193300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Pagod Syndrome	Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o...	ORPHA:991
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Joubert Syndrome 18	Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst	OMIM:614815
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Roberts Syndrome	Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Cryptorchidism	ORPHA:3103
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis	OMIM:602579
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Meckel Syndrome, Type 10	Micropenis, Malformation of the hepatic ductal plate, Renal cyst, Hypospadias	OMIM:614175
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Hajdu-Cheney Syndrome	Polycystic kidney dysplasia, Cryptorchidism, Hypospadias, Renal cyst	OMIM:102500
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cyst, Prolonged neonatal jaundic...	ORPHA:79303
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Senior-Boichis Syndrome	Tubular luminal dilatation, Cholestasis, Ascites, Abnormal renal insterstitial morphology, Stage ...	ORPHA:84081
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Mody	Abnormality of the kidney, Hepatocellular adenoma, Pancreatic hypoplasia, Renal cyst, Glycosuria,...	ORPHA:552
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Multiple renal cysts, Multicystic kidney dysplasia, Abnormality o...	ORPHA:1318
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Pelvic kidn...	OMIM:227646
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal agenesis, Varicocele,...	ORPHA:2044
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple...	OMIM:235200
Microsporidiosis	Urethritis, Abnormality of the urinary system physiology, Pancreatitis, Cholangitis, Prostatitis,...	ORPHA:2552
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal bladder morphology, Abnormal spleen morpho...	ORPHA:284
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol...	ORPHA:99776
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis, Endometriosis	OMIM:613680
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico...	OMIM:300707
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:2348
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Trisomy X	Precocious puberty, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Male pseudohermap...	ORPHA:564
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome...	OMIM:606003
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus...	ORPHA:140952
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea...	OMIM:614922
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Renal insufficiency, Renal cyst, B...	ORPHA:445038
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Micropenis	OMIM:616546
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep...	OMIM:208500
Joubert Syndrome 20	Renal cyst	OMIM:614970
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go...	ORPHA:91348
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Nephronophthisis 1	Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ...	OMIM:256100
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Meacham Syndrome	Hydrometrocolpos, Abnormal fallopian tube morphology, Abnormal vagina morphology, Hypoplasia of p...	ORPHA:3097
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidn...	ORPHA:3320
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Fryns Syndrome	Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Renal agenesis, ...	OMIM:229850
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Fryns Syndrome	Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchidism, Multicysti...	ORPHA:2059
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:79083
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Teebi Hypertelorism Syndrome 1	Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification	OMIM:167800
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Nephronophthisis 4	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c...	OMIM:606966
Currarino Syndrome	Urinary incontinence, Rectovaginal fistula, Recurrent urinary tract infections, Neurogenic bladde...	OMIM:176450
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Polycysti...	OMIM:268300
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde...	OMIM:615710
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr...	ORPHA:2473
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Small scrotum, Hypoplastic labia minora, Hypoplastic nipples, Bicornuat...	OMIM:269150
Pseudotrisomy 13 Syndrome	Bicornuate uterus, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:264480
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Hydronephrosis, Cryptorchidism, Multic...	ORPHA:912
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Enlarged labia minora, Polycystic kidney dysplasia, Abnormal external genit...	ORPHA:3404
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi...	ORPHA:699
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia	ORPHA:73246
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Abnorma...	ORPHA:538
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Hydronephrosis, Asplenia	ORPHA:210122
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Renal cyst, Prolonged neonatal jaundice, Renal hypoplasia, Cryptorch...	OMIM:210710
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hypercalciuria, Reticulocyto...	OMIM:557000
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Cryptor...	OMIM:134780
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Biliary tract abn...	OMIM:209900
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst	OMIM:236500
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Bifid scrotum, Renal cyst, Micropenis, Nephroblastoma, Ambiguous genitalia, Cryptorc...	OMIM:257300
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Congenital hepatic fibrosis, Multicystic kidney dysplasia	ORPHA:2031
46,Xx Gonadal Dysgenesis	Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Increased circulating gonadotropin level, S...	ORPHA:243
Trisomy 1Q	Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic...	ORPHA:261344
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuria, H...	ORPHA:79240
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Horseshoe kidney, Renal cyst	ORPHA:166035
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Renal insufficiency, Intrahepatic biliary atresia, Nephropathy, Portal h...	ORPHA:1454
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hepatic st...	OMIM:270400
Donnai-Barrow Syndrome	Bicornuate uterus, Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint...	OMIM:174000
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Renal hypoplasia/aplasia, Bicornuate uterus	ORPHA:958
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Endometriosis, Recurrent urina...	ORPHA:363444
Fanconi Anemia	Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Hypogonadism, Hypospadias, Azoos...	ORPHA:84
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation	OMIM:611134
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu...	ORPHA:64744
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Rectovaginal fistula, Perineal fistula, Renal agenesis, A...	ORPHA:2538
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,...	ORPHA:79328
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydron...	ORPHA:261494
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus...	OMIM:236680
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Nephrotic syndrom...	OMIM:212065
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Aceruloplasminemia	Elevated hepatic iron concentration, Refractory anemia, Hypochromic microcytic anemia, Abnormal p...	ORPHA:48818
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Opitz Gbbb Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Hydronephrosis, Shawl scrot...	ORPHA:2745
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit...	OMIM:146510
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Genitopatellar Syndrome	Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:85201
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Tuberous Sclerosis 1	Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Pulmonary lymphangiomyoma...	OMIM:191100
Cornelia De Lange Syndrome 1	Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external genitalia, Vesi...	OMIM:122470
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ascites, Ovarian cyst, Increased circulati...	ORPHA:64739
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Thro...	OMIM:617941
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Le...	OMIM:274000
D-Bifunctional Protein Deficiency	Hepatomegaly, Cholestasis, Renal cyst, Bile duct proliferation, Splenomegaly, Fetal ascites, Hepa...	OMIM:261515
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Splenomegaly,...	OMIM:608594
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis	OMIM:615503
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, C...	OMIM:266920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis	OMIM:615398
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Tuberous Sclerosis 2	Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Renal angiomyolipoma, Pul...	OMIM:613254
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Aspleni...	OMIM:265380
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancrea...	ORPHA:892
Okamoto Syndrome	Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute...	ORPHA:2729
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Acrofacial Dysostosis, Rodríguez Type	Renal hypoplasia/aplasia, Abnormality of the uterus	ORPHA:1788
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis, Pancreatic fibr...	OMIM:616263
Braddock-Carey Syndrome 1	Thrombocytopenia, Multicystic kidney dysplasia	OMIM:619980
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Thrombocytopenia, Cryptorc...	OMIM:147791
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis	ORPHA:1692
Ulnar-Mammary Syndrome	Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Renal hypoplasia, Abnormality of the ut...	ORPHA:3138
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Elevated hemo...	OMIM:269700
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Renal am...	OMIM:249100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:260370
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Supernumerary nipple, Vesicoureteral reflux	OMIM:605039
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Hypoplastic nipples, Ascites, Renal hypoplasia, Splenomegaly, ...	OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Micropenis, Uterus didelphys	OMIM:617925
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Small scrotum,...	OMIM:618454
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,...	OMIM:263650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephro...	ORPHA:369837
Trisomy 8P	Annular pancreas, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Cryptorchidism, Micropenis...	ORPHA:264450
Transketolase Deficiency	Hepatomegaly, Renal cyst, Increased level of ribose in urine	ORPHA:488618
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Posterior pitu...	ORPHA:464311
Joubert Syndrome 2	Hypoplastic male external genitalia, Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Small pituitary gland, Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypo...	ORPHA:2232
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Rhombencephalosynapsis	Abnormal renal morphology, Abnormality of the uterus	ORPHA:59315
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Splen...	ORPHA:342
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Bicornuate uterus, Renal hypoplasia,...	OMIM:219000
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Abnormal female external genitalia morphology, Hypos...	ORPHA:1606
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr...	ORPHA:93271
Histiocytoid Cardiomyopathy	Cardiomegaly, Polycystic ovaries, Hepatomegaly, Renal cyst	ORPHA:137675
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypospadias, Hydroureter, Hypoplasia of penis, Supernumerary ...	ORPHA:373
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Anterior pituitary hypo...	ORPHA:464306
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism	OMIM:616975
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia	OMIM:220500
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Decreased testicular size, Hydronephrosis, Hypogonadism, Multicystic kidney...	ORPHA:261349
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia, Cryptorchidism, ...	ORPHA:2308
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Cholestasis, Biliary cirrhosis, Renal cyst, Bile duct...	OMIM:613610
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis...	OMIM:618460
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Renal cyst	OMIM:616300
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephr...	ORPHA:798
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Jaundi...	OMIM:301068
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Anemia, Hydroureter, Duplicated collecting system, Abnormality...	ORPHA:79404
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
2Q37 Microdeletion Syndrome	Nephroblastoma, Multicystic kidney dysplasia, Supernumerary nipple	ORPHA:1001
Ulnar-Mammary Syndrome	Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate hymen, Bicornu...	OMIM:181450
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Renal cyst	OMIM:615636
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Bardet-Biedl Syndrome	Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,...	ORPHA:110
Fraser Syndrome	Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuat...	ORPHA:2052
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Renal cyst	OMIM:213300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst	OMIM:617260
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Joubert Syndrome 14	Renal cyst	OMIM:614424
Cowden Syndrome	Abnormality of the kidney, Adenoma sebaceum, Renal cell carcinoma, Enlarged polycystic ovaries, A...	ORPHA:201
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Limb-Mammary Syndrome	Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Waardenburg Syndrome	Abnormality of the uterus, Abnormal vagina morphology	ORPHA:3440
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney	OMIM:617088
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Urinary incontinence, Endometriosis, Recurrent urinary tract infe...	OMIM:614075
Bohring-Opitz Syndrome	Annular pancreas, Cardiomegaly, Cholelithiasis, Nephroblastoma, Urinary retention	ORPHA:97297
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Mosaic Variegated Aneuploidy Syndrome	Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Nephroblastoma, Ambiguous genitalia, Mul...	ORPHA:1052
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Crypt...	ORPHA:495875
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism	OMIM:268400
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Anterior h...	ORPHA:709
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Duplicated collecting system	ORPHA:488642
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Small pituitary...	OMIM:619503
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Thauvin-Robinet-Faivre Syndrome	Renal cyst, Transient neutropenia, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma	OMIM:617107
Townes-Brocks Syndrome	Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal vagina morp...	ORPHA:857
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus, Unilateral renal agenesis	OMIM:154400
Alagille Syndrome 1	Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Hepatocellular carcinoma, Choles...	OMIM:118450
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Exocrine pancreatic insufficie...	ORPHA:2750
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Lacrimal gland aplasia, Vesicoureteral reflux, Bicornuate ute...	ORPHA:2363
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula	ORPHA:171929
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypospadias, Hypo...	ORPHA:818
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Anemia, Hematuria, Azoospermia, Hypercalciuria,...	ORPHA:534
Robinow Syndrome	External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Hydronephrosis, W...	ORPHA:97360
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Increased circulating gonadotropi...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Increased circulating gonadotropi...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Increased circulating gonadotropi...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Increased circulating gonadotropi...	ORPHA:99226
Neu-Laxova Syndrome 1	Renal agenesis, Bifid uterus, Cryptorchidism	OMIM:256520
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Enuresis, Aplasia/hypoplasia of the uterus, Hydronephrosi...	ORPHA:96121
Radio-Renal Syndrome	Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Biliary tract abnor...	OMIM:261540
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Enlar...	ORPHA:744
Hajdu-Cheney Syndrome	Hepatomegaly, Splenomegaly, Multiple renal cysts, Hypospadias	ORPHA:955
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Supernumerary nipple, Hypospadias, Renal cyst, Cryptorchidism, Hyd...	OMIM:312870
Autosomal Recessive Robinow Syndrome	Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi...	ORPHA:1507
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali...	OMIM:194190
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Pallister-Hall Syndrome	Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias, Aplasia/Hypopla...	ORPHA:672
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis	ORPHA:2092
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites	ORPHA:1556
Tetrasomy 9P	Jaundice, Biliary atresia, Recurrent urinary tract infections, Renal dysplasia, Oligozoospermia, ...	ORPHA:3310
Distal Deletion 15Q	Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Cryptorchidism, Micro...	ORPHA:1596
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo...	OMIM:135900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Vesicoureteral reflux, Nephrolithiasis, Precocious puberty, Uterine prolapse, Hydronephro...	ORPHA:438213
Williams Syndrome	Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, Abnormal tubuloin...	ORPHA:904
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism	OMIM:136140
C Syndrome	Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchidism, Multicystic kidney dyspla...	ORPHA:1308
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ...	ORPHA:286
Cornelia De Lange Syndrome	Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Hypoplasti...	ORPHA:199
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyd...	OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Branchiooculofacial Syndrome	Hypospadias, Duplication of internal organs, Renal cyst, Renal agenesis, Ectopic thymus tissue, C...	OMIM:113620
Cerebrocostomandibular Syndrome	Horseshoe kidney, Ectopic kidney, Renal cyst	OMIM:117650
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261537
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261552
Classical Ehlers-Danlos Syndrome	Cervical insufficiency, Uterine prolapse, Bladder diverticulum	ORPHA:287
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Cryptorchidism, Multicys...	OMIM:308205
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse, Abnormal bladder morphology, Left ventricular hypertrophy	ORPHA:284984
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Hyperplastic labia majora...	ORPHA:79318
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Loeys-Dietz Syndrome 3	Cystocele, Uterine prolapse, Left ventricular hypertrophy	OMIM:613795
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic...	OMIM:164210

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.

Phenotype	Allele	Zygosity	Life Stage
Spleen - MPATH pathological process term hyperplasia	Btbd17^em1(IMPC)Mbp	HOM	Late adult
Bone marrow - MPATH pathological process term hyperplasia	Btbd17^em1(IMPC)Mbp	HOM	Late adult
Bone marrow - MPATH pathological entity term myeloid hyperplasia	Btbd17^em1(IMPC)Mbp	HOM	Late adult

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 Btbd17.

No publications found that use IMPC mice or data for Btbd17.

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MGI Allele	Allele Type	Produced
Btbd17^{tm38694(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Btbd17^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Btbd17^em1(IMPC)Mbp	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: Btbd17 MGI:1919264

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Histopathology

Human diseases caused by Btbd17 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data