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Gene: Bsg MGI:88208

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
basigin
Synonyms:
EMMPRIN,  gp 42,  neurothelin,  CD147,  HT-7,  5A11/Basigin

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bsg mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Young Syndrome
Abnormality of the pancreas, Recurrent bronchitis, Recurrent sinopulmonary infections, Obstructiv... ORPHA:3471
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Membranoproliferative gl... OMIM:613779
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity OMIM:613652
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Absent isohemagglutinin leve... OMIM:615559
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, External genital hypoplasia, Rod-cone dystrophy, Re... OMIM:615993
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Young Syndrome
Recurrent bronchitis, Bronchiectasis, Azoospermia, Recurrent sinopulmonary infections, Congenital... OMIM:279000
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Small for gestational... OMIM:275400
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... OMIM:152700
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Non-caseating epithelioid cell granulomatosis, Anterior uve... OMIM:607665
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... OMIM:608709
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... OMIM:615982
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Pneumocystosis
Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory i... ORPHA:723
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy OMIM:268010
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... OMIM:603278
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, C3 nephritic factor positivity, Glomerular subendothe... ORPHA:54370
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Arthritis, Cre... OMIM:616414
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Galactosemia I
Increased level of galactitol in urine, Hepatomegaly, Aminoaciduria, Increased level of galactito... OMIM:230400
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Obesity, Hepatic steatosis OMIM:615703
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Ar... OMIM:602390
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Acquired Partial Lipodystrophy
Lymphocytosis, Microscopic hematuria, Autoimmunity, Proteinuria, Glomerulopathy, Hepatic steatosis ORPHA:79087
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Bardet-Biedl Syndrome 2
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Diabetes mellitus, Obesity... OMIM:615981
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent otit... OMIM:618495
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Hepatosplenomegaly, Eosinophilia, Atopic der... OMIM:618999
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Cough, Elevated... ORPHA:139402
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... ORPHA:99931
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male ... OMIM:612444
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Reduced sperm motility, Cone/cone-rod dys... OMIM:602271
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... OMIM:620010
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Morm Syndrome
Retinal dystrophy, Retinal atrophy, Truncal obesity, Micropenis ORPHA:75858
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Immotile sperm, Chronic bronchitis, Reduced sperm motility, Otitis media, Absent ... OMIM:613807
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... OMIM:618449
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Hepatic steatosis OMIM:615595
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro... ORPHA:93126
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive... OMIM:619644
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Thrombocytop... OMIM:304790
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy ORPHA:276183
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... ORPHA:3261
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Absent central microtubular pair morphology of respiratory motile... OMIM:617091
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... ORPHA:84090
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cerebellar atrophy OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Stt3B-Cdg
Respiratory distress, Failure to thrive, Micropenis, Optic atrophy, Cerebellar atrophy, Cryptorch... ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Micropenis, Optic atrophy, Cerebellar atrophy, Cryptorch... OMIM:615597
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... OMIM:618300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Asthma, Congenital ... ORPHA:8
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal lung morphology, ... ORPHA:50251
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creati... OMIM:614376
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... OMIM:618801
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:615234
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po... ORPHA:49041
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Interstitial pneumoniti... OMIM:615952
48,Xxyy Syndrome
Infertility, Apnea, Type II diabetes mellitus, Asthma, Hypoplasia of penis, Hypergonadotropic hyp... ORPHA:10
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... ORPHA:37042
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... ORPHA:567546
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Infertility, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, A... OMIM:606763
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... ORPHA:70589
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Absent outer dynein... OMIM:614874
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... OMIM:619436
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia, Abnormal motor neuron morphology OMIM:613724
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... OMIM:603909
Ciliary Dyskinesia, Primary, 32
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, R... OMIM:616481
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
48,Xyyy Syndrome
Asthma, Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Male hypogon... ORPHA:99329
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent... OMIM:300991
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... ORPHA:275555
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... OMIM:614878
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Aplastic anemia, Myositis, Ulcerative colitis... ORPHA:99867
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Senior-Loken Syndrome 9
Rod-cone dystrophy, Macular degeneration, Cholestasis, Retinal dystrophy, Tubulointerstitial neph... OMIM:616629
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue ... ORPHA:261519
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, R... OMIM:608971
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Cervical lymphade... OMIM:618534
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... ORPHA:91139
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Ciliary Dyskinesia, Primary, 26
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615500
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration, Recurre... ORPHA:77260
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Primary Ciliary Dyskinesia
Airway obstruction, Female infertility, Anomalous pulmonary venous return, Recurrent otitis media... ORPHA:244
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Anemia ORPHA:2668
Ciliary Dyskinesia, Primary, 29
Infertility, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Coombs-positive hemolytic ... OMIM:614034
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Decreased response to growth hormone stimulation test, Retinal degeneration, Hypospadias... ORPHA:96179
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Recurrent respir... OMIM:269840
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus, Cryptorchidism OMIM:249270
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal pro... ORPHA:1830
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Respiratory distress, Cerebral atrophy, Hypo... OMIM:160900
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly ORPHA:231154
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Interstitial Lung Disease 2
Alveolar cell carcinoma, Usual interstitial pneumonia, Cirrhosis, Decreased DLCO, Cough, Exertion... OMIM:178500
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Respiratory fai... ORPHA:264675
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Renal interstitial amyloi... ORPHA:85443
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:617729
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Systemic Sclerosis
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... ORPHA:90291
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent otitis media, Immotile sperm, Chronic bronchitis, Abnormal axonemal organi... OMIM:613808
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... ORPHA:400
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Micropenis, Macular atrophy, Cone/cone-rod dystrophy, H... OMIM:615994
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Mac... OMIM:617303
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Reduced sperm motility, Abnormal central microtubular pair morphology of resp... OMIM:612649
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Increased extra... OMIM:204200
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Perching Syndrome
Respiratory distress, Rod-cone dystrophy OMIM:617055
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Failure to thrive OMIM:300934
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Respiratory insufficiency, Reduced forced vital capacity, ... OMIM:619518
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Lupus anticoagulan... ORPHA:93552
Bardet-Biedl Syndrome 1
Abdominal obesity, Asthma, Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degener... OMIM:209900
48,Xxxy Syndrome
Infertility, Asthma, Type II diabetes mellitus, Hypoplasia of penis, Recurrent respiratory infect... ORPHA:96263
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Abnormal central microtubu... OMIM:612650
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronod... OMIM:215250
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... ORPHA:54057
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Antineutrophil antibody positivity, Rheumatoi... ORPHA:90060
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration ORPHA:404451
8P11.2 Deletion Syndrome
Hypoplasia of penis, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus... ORPHA:251066
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... OMIM:300845
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... OMIM:618892
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Hepatomegaly, External genital hypoplasia, Optic atrophy... ORPHA:329178
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Hypoplasia of the uterus OMIM:617442
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Ciliary Dyskinesia, Primary, 25
Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B... OMIM:615482
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu... OMIM:617056
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Immunodeficiency 23
Lymphopenia, Eosinophilia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, ... OMIM:615816
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia, Diabetes insipidus ORPHA:1445
Bacterial Toxic-Shock Syndrome
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... ORPHA:36234
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... ORPHA:1145
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocytopenia, Absence of lymph... ORPHA:277
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hepatic steatosis, Respiratory distress ORPHA:26792
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, ... ORPHA:1304
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Abdominal situs inversus, Male infertility, Chronic sinusitis, Recurrent otitis media, Dec... OMIM:619607
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... ORPHA:48435
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Retinal degeneration OMIM:225755
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Respiratory... OMIM:610127
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Lymphatic Filariasis
Nephrotic syndrome, Urethral obstruction, Orchitis, Abnormality of the kidney, Lymphadenitis, Hem... ORPHA:2035
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... OMIM:618852
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... OMIM:612310
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Vaginal dryness, Abnormal pulmonary interstitial mo... ORPHA:289390
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Microscopic hematuria, Proteinuria OMIM:261100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
49,Xxxxy Syndrome
Infertility, Asthma, Type II diabetes mellitus, Hypoplasia of penis, Pulmonary embolism, Chronic ... ORPHA:96264
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Delayed menarche, Parietal c... ORPHA:412057
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilater... OMIM:300219
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Ciliary Dyskinesia, Primary, 13
Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine... OMIM:613193
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury OMIM:160010
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Cirrhosis, Hepa... OMIM:276700
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly ORPHA:228312
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Ciliary Dyskinesia, Primary, 24
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 22
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency ORPHA:225
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cerebral cortical atrophy, Abnormality of pattern visual evo... ORPHA:166035
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid habitus, Hy... ORPHA:91
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Abnormality of the kidney, Cirr... ORPHA:369
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Respiratory distress, Apnea, Hepatomegaly,... ORPHA:79330
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:251300
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Macular degeneration ORPHA:85334
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness OMIM:300580
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, P... ORPHA:91138
Alg6-Cdg
Failure to thrive, Jaundice, Retinal degeneration, Rod-cone dystrophy, Puberty and gonadal disord... ORPHA:79320
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Neonatal death, Pulmonary arterial hypertension, Stillbirth OMIM:619751
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of retinal blood ve... OMIM:615986
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Ciliary Dyskinesia, Primary, 38
Infertility, Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory... OMIM:618063
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Splenomegaly, Hematuria, Arthritis, Episcleritis, Uveitis, Autoimmunity,... ORPHA:36412
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jaundice, Cholestatic ... OMIM:613404
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadia... OMIM:214100
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Choroideremia, Optic atrophy, Clitoral hypertrophy, Abno... ORPHA:2707
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:618347
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemoglo... OMIM:194380
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Bloom Syndrome